Gene HBA1 - ENSG00000206172 | NCBI Gene ID: 3039

Details for: HBA1

Gene ID: 3039

Symbol: HBA1

Ensembl ID: ENSG00000206172

Description: hemoglobin subunit alpha 1

Associated with

Binding and uptake of ligands by scavenger receptors
(R-HSA-2173782)
Cellular responses to stimuli
(R-HSA-8953897)
Cellular responses to stress
(R-HSA-2262752)
Cellular response to chemical stress
(R-HSA-9711123)
Cytoprotection by hmox1
(R-HSA-9707564)
Erythrocytes take up carbon dioxide and release oxygen
(R-HSA-1237044)
Erythrocytes take up oxygen and release carbon dioxide
(R-HSA-1247673)
Heme signaling
(R-HSA-9707616)
O2/co2 exchange in erythrocytes
(R-HSA-1480926)
Scavenging of heme from plasma
(R-HSA-2168880)
Transport of small molecules
(R-HSA-382551)
Vesicle-mediated transport
(R-HSA-5653656)
Blood microparticle
(GO:0072562)
Carbon dioxide transport
(GO:0015670)
Cellular oxidant detoxification
(GO:0098869)
Cytosol
(GO:0005829)
Endocytic vesicle lumen
(GO:0071682)
Extracellular exosome
(GO:0070062)
Extracellular region
(GO:0005576)
Extracellular space
(GO:0005615)
Haptoglobin-hemoglobin complex
(GO:0031838)
Haptoglobin binding
(GO:0031720)
Heme binding
(GO:0020037)
Hemoglobin complex
(GO:0005833)
Hydrogen peroxide catabolic process
(GO:0042744)
Iron ion binding
(GO:0005506)
Membrane
(GO:0016020)
Nitric oxide transport
(GO:0030185)
Organic acid binding
(GO:0043177)
Oxygen binding
(GO:0019825)
Oxygen carrier activity
(GO:0005344)
Oxygen transport
(GO:0015671)
Peroxidase activity
(GO:0004601)
Protein binding
(GO:0005515)
Response to hydrogen peroxide
(GO:0042542)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: hepatoblast (CL0005026)
Fold Change: 14.89
Marker Score: 48776
Cell Name: pulmonary interstitial fibroblast (CL0002241)
Fold Change: 3.75
Marker Score: 3001
Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
Fold Change: 3.07
Marker Score: 1323
Cell Name: endocardial cell (CL0002350)
Fold Change: 2.92
Marker Score: 1652
Cell Name: cell of skeletal muscle (CL0000188)
Fold Change: 2.83
Marker Score: 2153
Cell Name: fetal cardiomyocyte (CL0002495)
Fold Change: 2.46
Marker Score: 808
Cell Name: hepatic stellate cell (CL0000632)
Fold Change: 2.3
Marker Score: 868.5
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 2.27
Marker Score: 40313
Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: 2.2
Marker Score: 707
Cell Name: epithelial cell of lower respiratory tract (CL0002632)
Fold Change: 1.95
Marker Score: 8125
Cell Name: proerythroblast (CL0000547)
Fold Change: 1.9
Marker Score: 1287
Cell Name: erythroid progenitor cell (CL0000038)
Fold Change: 1.55
Marker Score: 1612
Cell Name: mural cell (CL0008034)
Fold Change: 1.47
Marker Score: 169195
Cell Name: syncytiotrophoblast cell (CL0000525)
Fold Change: 1.47
Marker Score: 1205
Cell Name: chromaffin cell (CL0000166)
Fold Change: 1.34
Marker Score: 1891
Cell Name: sympathetic neuron (CL0011103)
Fold Change: 1.33
Marker Score: 440
Cell Name: kidney interstitial cell (CL1000500)
Fold Change: 1.25
Marker Score: 892.5
Cell Name: erythroblast (CL0000765)
Fold Change: 1.1
Marker Score: 684
Cell Name: promyelocyte (CL0000836)
Fold Change: 1.07
Marker Score: 529
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71798
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48022
Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 0.98
Marker Score: 478
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30406
Cell Name: hematopoietic cell (CL0000988)
Fold Change: 0.95
Marker Score: 634
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2413
Cell Name: neural crest cell (CL0011012)
Fold Change: 0.94
Marker Score: 1009
Cell Name: cardiac mesenchymal cell (CL0000569)
Fold Change: 0.93
Marker Score: 228
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.92
Marker Score: 5273
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2733
Cell Name: peripheral nervous system neuron (CL2000032)
Fold Change: 0.87
Marker Score: 980
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5286
Cell Name: erythrocyte (CL0000232)
Fold Change: 0.85
Marker Score: 469
Cell Name: trophoblast giant cell (CL0002488)
Fold Change: 0.83
Marker Score: 269
Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
Fold Change: 0.79
Marker Score: 611
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1263
Cell Name: enucleated reticulocyte (CL0002422)
Fold Change: 0.76
Marker Score: 282
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.76
Marker Score: 578
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.75
Marker Score: 388
Cell Name: B-1b B cell (CL0000821)
Fold Change: 0.72
Marker Score: 166
Cell Name: myelocyte (CL0002193)
Fold Change: 0.72
Marker Score: 310
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.68
Marker Score: 174
Cell Name: reticulocyte (CL0000558)
Fold Change: 0.66
Marker Score: 280
Cell Name: brush cell (CL0002204)
Fold Change: 0.66
Marker Score: 599
Cell Name: enteric smooth muscle cell (CL0002504)
Fold Change: 0.65
Marker Score: 1534
Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
Fold Change: 0.62
Marker Score: 1799
Cell Name: primitive red blood cell (CL0002355)
Fold Change: 0.6
Marker Score: 446.5
Cell Name: respiratory basal cell (CL0002633)
Fold Change: 0.59
Marker Score: 841
Cell Name: enterocyte of colon (CL1000347)
Fold Change: 0.57
Marker Score: 886
Cell Name: osteoblast (CL0000062)
Fold Change: 0.56
Marker Score: 302
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.56
Marker Score: 443
Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
Fold Change: 0.55
Marker Score: 120
Cell Name: granulocyte monocyte progenitor cell (CL0000557)
Fold Change: 0.51
Marker Score: 326
Cell Name: kidney cell (CL1000497)
Fold Change: 0.5
Marker Score: 335
Cell Name: skeletal muscle satellite cell (CL0000594)
Fold Change: 0.5
Marker Score: 335
Cell Name: Schwann cell (CL0002573)
Fold Change: 0.48
Marker Score: 167
Cell Name: mesodermal cell (CL0000222)
Fold Change: 0.47
Marker Score: 6248
Cell Name: fraction A pre-pro B cell (CL0002045)
Fold Change: 0.45
Marker Score: 458
Cell Name: nasal mucosa goblet cell (CL0002480)
Fold Change: 0.45
Marker Score: 303
Cell Name: granulocyte (CL0000094)
Fold Change: 0.44
Marker Score: 199
Cell Name: kidney collecting duct cell (CL1001225)
Fold Change: 0.44
Marker Score: 86
Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
Fold Change: 0.43
Marker Score: 212
Cell Name: lung ciliated cell (CL1000271)
Fold Change: 0.43
Marker Score: 206
Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.43
Marker Score: 115
Cell Name: preosteoblast (CL0007010)
Fold Change: 0.43
Marker Score: 122
Cell Name: nephron tubule epithelial cell (CL1000494)
Fold Change: 0.43
Marker Score: 101
Cell Name: mesenchymal stem cell (CL0000134)
Fold Change: 0.42
Marker Score: 648
Cell Name: enucleate erythrocyte (CL0000595)
Fold Change: 0.41
Marker Score: 161
Cell Name: myeloid cell (CL0000763)
Fold Change: 0.41
Marker Score: 651
Cell Name: pre-B-I cell (CL0000956)
Fold Change: 0.4
Marker Score: 101
Cell Name: enteric neuron (CL0007011)
Fold Change: 0.39
Marker Score: 210
Cell Name: early lymphoid progenitor (CL0000936)
Fold Change: 0.39
Marker Score: 190
Cell Name: chondrocyte (CL0000138)
Fold Change: 0.38
Marker Score: 171
Cell Name: mesangial cell (CL0000650)
Fold Change: 0.38
Marker Score: 455
Cell Name: mesenchymal cell (CL0008019)
Fold Change: 0.37
Marker Score: 628
Cell Name: erythroid lineage cell (CL0000764)
Fold Change: 0.37
Marker Score: 182
Cell Name: germ cell (CL0000586)
Fold Change: 0.36
Marker Score: 633.5
Cell Name: intermediate monocyte (CL0002393)
Fold Change: 0.36
Marker Score: 124
Cell Name: photoreceptor cell (CL0000210)
Fold Change: 0.35
Marker Score: 263
Cell Name: naive regulatory T cell (CL0002677)
Fold Change: 0.35
Marker Score: 106
Cell Name: male germ cell (CL0000015)
Fold Change: 0.35
Marker Score: 100
Cell Name: megakaryocyte (CL0000556)
Fold Change: 0.35
Marker Score: 197
Cell Name: blood vessel smooth muscle cell (CL0019018)
Fold Change: 0.35
Marker Score: 91
Cell Name: vascular associated smooth muscle cell (CL0000359)
Fold Change: 0.34
Marker Score: 157
Cell Name: inflammatory macrophage (CL0000863)
Fold Change: 0.34
Marker Score: 106
Cell Name: dermis microvascular lymphatic vessel endothelial cell (CL2000041)
Fold Change: 0.34
Marker Score: 109
Cell Name: pre-conventional dendritic cell (CL0002010)
Fold Change: 0.33
Marker Score: 97
Cell Name: innate lymphoid cell (CL0001065)
Fold Change: 0.32
Marker Score: 116
Cell Name: natural killer cell (CL0000623)
Fold Change: 0.32
Marker Score: 418
Cell Name: late pro-B cell (CL0002048)
Fold Change: 0.32
Marker Score: 379.5
Cell Name: epithelial cell of glomerular capsule (CL1000450)
Fold Change: 0.32
Marker Score: 81
Cell Name: hematopoietic stem cell (CL0000037)
Fold Change: 0.32
Marker Score: 167
Cell Name: eukaryotic cell (CL0000255)
Fold Change: 0.32
Marker Score: 163
Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
Fold Change: 0.31
Marker Score: 197
Cell Name: acinar cell (CL0000622)
Fold Change: 0.31
Marker Score: 220
Cell Name: motor neuron (CL0000100)
Fold Change: 0.31
Marker Score: 184
Cell Name: type I NK T cell (CL0000921)
Fold Change: 0.31
Marker Score: 241
Cell Name: large pre-B-II cell (CL0000957)
Fold Change: 0.31
Marker Score: 830
Cell Name: promonocyte (CL0000559)
Fold Change: 0.3
Marker Score: 194
Cell Name: endothelial cell of sinusoid (CL0002262)
Fold Change: 0.3
Marker Score: 72
Cell Name: endothelial cell of artery (CL1000413)
Fold Change: 0.3
Marker Score: 123

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**Key characteristics:** * The HBA1 gene is a member of the globin family of blood proteins. * It is expressed in all erythrocytes, including red blood cells, white blood cells, and platelets. * The protein is synthesized as a large precursor protein that is then processed to form the mature hemoglobin subunit. * The mature protein is a tetrameric structure, with each subunit having a molecular weight of approximately 64,500 Da. * The hemoglobin subunit is a very efficient oxygen carrier, with a high affinity for oxygen. **Pathways and functions:** * The HBA1 gene is involved in the binding and uptake of ligands by scavenger receptors, cellular responses to stimuli, cellular responses to stress, and cellular response to chemical stress. * The protein is also involved in the transport of small molecules, such as carbon dioxide and oxygen. * In healthy individuals, the HBA1 gene is expressed at low levels in red blood cells. * However, in people with sickle cell anemia, the HBA1 gene is mutated, resulting in the production of a defective hemoglobin subunit that is unable to bind oxygen. This leads to the characteristic symptoms of sickle cell anemia, including pain in the lower back, joints, and abdomen. **Clinical significance:** The HBA1 gene is a major target for the treatment of sickle cell anemia. By replacing the mutated HBA1 gene with a normal one, it is possible to correct the genetic defect and restore normal oxygen transport in red blood cells. This treatment can be effective in preventing the pain and other symptoms of sickle cell anemia.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Hemoglobin subunit alpha

Genular Protein ID: 2087808431

Symbol: HBA_HUMAN

Name: Hemoglobin subunit alpha

UniProtKB Accession Codes:

P69905 P01922 Q1HDT5 Q3MIF5 Q53F97 Q96KF1 Q9NYR7 Q9UCM0

Database IDs:

Citations:

PubMed ID: 7448866

Title: The 3' untranslated regions of the duplicated human alpha-globin genes are unexpectedly divergent.

PubMed ID: 7448866

DOI: 10.1016/0092-8674(80)90347-5

PubMed ID: 6244294

Title: Nucleotide sequence of the coding portion of human alpha globin messenger RNA.

PubMed ID: 6244294

DOI: 10.1016/s0021-9258(19)85810-6

PubMed ID: 6452630

Title: Cloning and complete nucleotide sequence of human 5'-alpha-globin gene.

PubMed ID: 6452630

DOI: 10.1073/pnas.77.12.7054

PubMed ID: 6946451

Title: Mutation in an intervening sequence splice junction in man.

PubMed ID: 6946451

DOI: 10.1073/pnas.78.8.5041

PubMed ID: 11410421

Title: Alpha2(CD31 AGG-->AAG, Arg-->Lys) causing non-deletional alpha-thalassemia in a Chinese family with HbH disease.

PubMed ID: 11410421

PubMed ID: 11402454

Title: Rapid detection of the common alpha-thalassemia-2 determinants by PCR assay.

PubMed ID: 11402454

PubMed ID: 16728641

Title: A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter.

PubMed ID: 16728641

DOI: 10.1126/science.1126431

PubMed ID: 11157797

Title: Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.

PubMed ID: 11157797

DOI: 10.1093/hmg/10.4.339

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 13872627

Title: The constitution of normal adult human haemoglobin.

PubMed ID: 13872627

DOI: 10.1515/bchm2.1961.325.1.283

PubMed ID: 13954546

Title: The structure of human hemoglobin: IV. The chymotryptic digestion of the alpha chain of human hemoglobin.

PubMed ID: 13954546

PubMed ID: 14093912

Title: The amino acid sequence of the alpha chain of human fetal hemoglobin.

PubMed ID: 14093912

DOI: 10.1021/bi00906a030

PubMed ID: 12665801

Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

PubMed ID: 12665801

DOI: 10.1038/nbt810

PubMed ID: 1428951

Title: Hb Ethiopia or alpha 2(140)(HC2)Tyr----His beta 2.

PubMed ID: 1428951

DOI: 10.3109/03630269209005699

PubMed ID: 7358733

Title: Sites of nonenzymatic glycosylation of human hemoglobin A.

PubMed ID: 7358733

DOI: 10.1016/s0021-9258(19)85860-x

PubMed ID: 12552433

Title: Hookworm aspartic protease, Na-APR-2, cleaves human hemoglobin and serum proteins in a host-specific fashion.

PubMed ID: 12552433

DOI: 10.1086/367708

PubMed ID: 18077343

Title: Hemopressin is an inverse agonist of CB1 cannabinoid receptors.

PubMed ID: 18077343

DOI: 10.1073/pnas.0706980105

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 1177322

Title: Three-dimensional Fourier synthesis of human deoxyhaemoglobin at 2.5-A resolution: refinement of the atomic model.

PubMed ID: 1177322

DOI: 10.1016/s0022-2836(75)80037-4

PubMed ID: 7373648

Title: The structure of human carbonmonoxy haemoglobin at 2.7-A resolution.

PubMed ID: 7373648

DOI: 10.1016/0022-2836(80)90308-3

PubMed ID: 1512262

Title: A third quaternary structure of human hemoglobin A at 1.7-A resolution.

PubMed ID: 1512262

DOI: 10.1016/s0021-9258(18)41919-9

PubMed ID: 9665850

Title: Crystal structure of a human embryonic haemoglobin: the carbonmonoxy form of Gower II (alpha2 epsilon2) haemoglobin at 2.9-A resolution.

PubMed ID: 9665850

DOI: 10.1006/jmbi.1998.1868

PubMed ID: 8448109

Title: Accommodation of insertions in helices: the mutation in hemoglobin Catonsville (Pro 37 alpha-Glu-Thr 38 alpha) generates a 3(10)-->alpha bulge.

PubMed ID: 8448109

DOI: 10.1021/bi00061a007

PubMed ID: 29109153

Title: Structure-function analyses reveal key features in Staphylococcus aureus IsdB-associated unfolding of the heme-binding pocket of human hemoglobin.

PubMed ID: 29109153

DOI: 10.1074/jbc.m117.806562

PubMed ID: 5988206

Title: Hemoglobin J Cape Town-alpha-2 92 arginine replaced by glutamine beta-2.

PubMed ID: 5988206

DOI: 10.1038/212792a0

PubMed ID: 5440849

Title: Subunit dissociation of the unstable hemoglobin Bibba (alpha 2-136Pro(H19)beta 2).

PubMed ID: 5440849

DOI: 10.1016/s0021-9258(18)63222-3

PubMed ID: 5091982

Title: Ligand binding in hemoglobin J Capetown.

PubMed ID: 5091982

DOI: 10.1016/0022-2836(71)90029-5

PubMed ID: 5288820

Title: Clinical studies and physiological properties of Hopkins-2 haemoglobin.

PubMed ID: 5288820

DOI: 10.1038/newbio234248a0

PubMed ID: 5085669

Title: Haemoglobin Denmark Hill 95 (G2) Pro-Ala, a variant with unusual electrophoretic and oxygen-binding properties.

PubMed ID: 5085669

DOI: 10.1016/0005-2795(72)90006-2

PubMed ID: 4667378

Title: Hb Setif: G1 (94) Asp-Tyr. A new chain hemoglobin variant with substitution of the residue involved in hydrogen bond between unlike subunits.

PubMed ID: 4667378

DOI: 10.1016/0014-5793(72)80645-8

PubMed ID: 5033650

Title: Biosynthesis of hemoglobin Ann Arbor: evidence for catabolic and feedback regulation.

PubMed ID: 5033650

DOI: 10.1126/science.176.4042.1427

PubMed ID: 4744335

Title: Hemoglobin Sawara: alpha 6(A4) aspartic acid leads to alanine.

PubMed ID: 4744335

DOI: 10.1016/0005-2795(73)90169-4

PubMed ID: 4521212

Title: Structure of hemoglobin M Boston, a variant with a five-coordinated ferric heme.

PubMed ID: 4521212

DOI: 10.1073/pnas.70.12.3870

PubMed ID: 4824923

Title: A new haemoglobin variant: J-Rovigo alpha 53 (E-2) alanine leads to aspartic acid.

PubMed ID: 4824923

DOI: 10.1016/0005-2795(74)90099-3

PubMed ID: 1182166

Title: Hemoglobin Hirosaki (alpha 43 [CE 1] Phe replaced by Leu), a new unstable variant.

PubMed ID: 1182166

DOI: 10.1016/0005-2795(75)90325-6

PubMed ID: 849454

Title: Hemoglobin Pontoise alpha63 Ala replaced by Asp(E12). A new fast moving variant.

PubMed ID: 849454

DOI: 10.1016/0005-2795(77)90036-8

PubMed ID: 20980

Title: Increased oxygen affinity for hemoglobin Sawara: alphaA4(6) aspartic acid replaced by alanine.

PubMed ID: 20980

DOI: 10.1016/0005-2795(77)90253-7

PubMed ID: 902765

Title: Haemoglobin Port Phillip alpha91 (FG3) Leu replaced by Pro, a new unstable haemoglobin.

PubMed ID: 902765

DOI: 10.1016/0014-5793(77)80940-x

PubMed ID: 108887

Title: Hemoglobin Moabit: alpha 86 (F7) Leu leads to Arg: a new unstable abnormal hemoglobin.

PubMed ID: 108887

DOI: 10.1159/000207643

PubMed ID: 486536

Title: A new abnormal human hemoglobin: Hb Prato (alpha 2 31 (B12) Arg leads to Ser beta 2).

PubMed ID: 486536

DOI: 10.1016/0005-2795(79)90184-3

PubMed ID: 478975

Title: Hemoglobin Dunn: alpha 6 (A4) aspartic acid replaced by asparagine.

PubMed ID: 478975

DOI: 10.3109/03630267908998909

PubMed ID: 7435503

Title: Oxygen affinity and stability of hemoglobin Dunn alpha 6(A4)Asp replaced by Asn): use of isoelectric focusing in recognition of a new abnormal hemoglobin.

PubMed ID: 7435503

DOI: 10.1002/ajh.2830090203

PubMed ID: 7213661

Title: Hemoglobin Milledgeville (alpha 44 (CD2) Pro leads to Leu): a new variant with increased oxygen affinity.

PubMed ID: 7213661

DOI: 10.1016/0005-2795(80)90138-5

PubMed ID: 7462179

Title: Hemoglobin Legnano (alpha 2 141 (HC3) Arg leads to Leu beta2) a new high oxygen affinity variant. Functional and structural studies.

PubMed ID: 7462179

DOI: 10.1093/oxfordjournals.jbchem.a133091

PubMed ID: 7410435

Title: Structural and functional studies of hemoglobin Suresnes (arg 141 alpha 2 replaced by His beta 2). Consequences of disrupting an oxygen-linked anion-binding site.

PubMed ID: 7410435

DOI: 10.1016/s0021-9258(19)70585-7

PubMed ID: 7238857

Title: Haemoglobin Ferndown (alpha 6 [A4] aspartic acid replaced by valine).

PubMed ID: 7238857

DOI: 10.1016/0014-5793(81)81047-2

PubMed ID: 7275660

Title: Hemoglobin Tottori (alpha 59[E8] glycine replaced by valine).

PubMed ID: 7275660

DOI: 10.3109/03630268108991818

PubMed ID: 7068434

Title: Hemoglobin Kawachi [alpha 44 (CE2) Pro leads to Arg]: a new hemoglobin variant of high oxygen affinity with amino acid substitution at alpha 1 beta 2 contact.

PubMed ID: 7068434

DOI: 10.3109/03630268208996932

PubMed ID: 7068437

Title: HB Kokura [alpha 47 (CE 5) Asp leads to Gly]: a slightly unstable variant.

PubMed ID: 7068437

DOI: 10.3109/03630268208996936

PubMed ID: 6882779

Title: Hemoglobin Evanston: alpha 14(A12) Trp leads to Arg. A variant hemoglobin associated with alpha-thalassemia-2.

PubMed ID: 6882779

DOI: 10.1016/0167-4838(83)90122-x

PubMed ID: 6188720

Title: Hemoglobin Tokoname [alpha 139 (HC 1) Lys leads to Thr]: a new hemoglobin variant with a slightly increased oxygen affinity.

PubMed ID: 6188720

DOI: 10.3109/03630268309038404

PubMed ID: 6874376

Title: A case of hemoglobin Iwata [alpha 87(F8)His leads to Arg] in China.

PubMed ID: 6874376

PubMed ID: 6874377

Title: Hb Etobicoke, alpha 85(F5) Ser leads to Arg found in a newborn of French-Indian-English descent.

PubMed ID: 6874377

DOI: 10.3109/03630268309048660

PubMed ID: 6714429

Title: Hemoglobin Aichi [alpha 50(CE8) His----Arg]: a new slightly unstable hemoglobin variant discovered in Japan.

PubMed ID: 6714429

DOI: 10.1016/0014-5793(84)80337-3

PubMed ID: 6547117

Title: Hb Cordele alpha(2)47 (CE5)Asp----Ala beta 2. A mildly unstable variant observed in black twins.

PubMed ID: 6547117

DOI: 10.3109/03630268408996959

PubMed ID: 6547932

Title: The characterization of hemoglobin Manitoba or alpha (2)102(G9)Ser----Arg beta 2 and hemoglobin Contaldo or alpha (2)103(G10)His----Arg beta 2 by high performance liquid chromatography.

PubMed ID: 6547932

DOI: 10.3109/03630268408991710

PubMed ID: 6725558

Title: Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia.

PubMed ID: 6725558

DOI: 10.1172/jci111382

PubMed ID: 3973024

Title: A new hemoglobin variant, hemoglobin Nunobiki [alpha 141 (HC3) Arg----Cys]. Notable influence of the carboxy-terminal cysteine upon various physico-chemical characteristics of hemoglobin.

PubMed ID: 3973024

DOI: 10.1172/jci111749

PubMed ID: 3142772

Title: Increased oxygen affinity with normal heterotropic effects in hemoglobin Loire [alpha 88(F9)Ala----Ser].

PubMed ID: 3142772

DOI: 10.1111/j.1432-1033.1988.tb14377.x

PubMed ID: 2599879

Title: Hb Luxembourg [alpha 24(B5) Tyr----His]: a new unstable variant.

PubMed ID: 2599879

DOI: 10.3109/03630268908998082

PubMed ID: 2634665

Title: Hb Miyano or alpha 41(C6)Thr----Ser: a new high oxygen affinity alpha chain variant found in an erythremic blood donor.

PubMed ID: 2634665

DOI: 10.3109/03630268908998841

PubMed ID: 2634669

Title: Hb Reims [alpha 2(23)(B4)Glu----Gly beta 2]: a new alpha chain variant with slightly decreased stability.

PubMed ID: 2634669

DOI: 10.3109/03630268908998846

PubMed ID: 2108715

Title: Structural, functional, and subunit assembly properties of hemoglobin Attleboro [alpha 138 (H21) Ser----Pro], a variant possessing a site maturation at a critical C-terminal residue.

PubMed ID: 2108715

DOI: 10.1021/bi00453a023

PubMed ID: 2079432

Title: Hb Fukutomi [alpha 126(H9)Asp----Val]: a new hemoglobin variant with high oxygen affinity.

PubMed ID: 2079432

DOI: 10.3109/03630269009005803

PubMed ID: 1390940

Title: Hemoglobin Dallas (alpha 97(G4)Asn-->Lys): functional characterization of a high oxygen affinity natural mutant.

PubMed ID: 1390940

DOI: 10.1016/0925-4439(92)90021-e

PubMed ID: 1390944

Title: Hemoglobin Rouen (alpha-140 (HC2) Tyr-->His): alteration of the alpha-chain C-terminal region and moderate increase in oxygen affinity.

PubMed ID: 1390944

DOI: 10.1016/0925-4439(92)90026-j

PubMed ID: 1428941

Title: HB Al-Ain Abu Dhabi [alpha 18(A16)Gly-->Asp]: a new hemoglobin variant discovered in an Emiratee family.

PubMed ID: 1428941

DOI: 10.3109/03630269209005687

PubMed ID: 8493987

Title: Unstable alpha-chain hemoglobin variants with factitious beta-thalassemia biosynthetic ratio: Hb Questembert (alpha 131[H14]Ser-->Pro) and Hb Caen (alpha 132[H15]Val-->Gly).

PubMed ID: 8493987

DOI: 10.1002/ajh.2830420407

PubMed ID: 8237999

Title: Hb Adana or alpha 2(59)(E8)Gly-->Asp beta 2, a severely unstable alpha 1-globin variant, observed in combination with the -(alpha)20.5 Kb alpha-thal-1 deletion in two Turkish patients.

PubMed ID: 8237999

DOI: 10.1002/ajh.2830440410

PubMed ID: 8798486

Title: Hb Montefiore (126(H9)Asp-->Tyr). High oxygen affinity and loss of cooperativity secondary to C-terminal disruption.

PubMed ID: 8798486

DOI: 10.1074/jbc.271.38.22990

PubMed ID: 5115619

Title: Hemoglobin Atago (alpha2-85 Tyr beta-2) a new abnormal human hemoglobin found in Nagasaki. Biochemical studies on hemoglobins and myoglobins. VI.

PubMed ID: 5115619

PubMed ID: 9322075

Title: Hb Auckland [alpha 87(F8) His-->Asn]: a new mutation of the proximal histidine identified by electrospray mass spectrometry.

PubMed ID: 9322075

DOI: 10.3109/03630269708993126

PubMed ID: 8148419

Title: Hb Cemenelum [alpha 92 (FG4) Arg-->Trp]: a hemoglobin variant of the alpha 1/beta 2 interface that displays a moderate increase in oxygen affinity.

PubMed ID: 8148419

DOI: 10.1007/bf01715134

PubMed ID: 6526652

Title: Hemoglobin Chongqing [alpha 2(NA2)Leu-->Arg] and hemoglobin Harbin [alpha 16(A14)Lys-->Met] found in China.

PubMed ID: 6526652

DOI: 10.3109/03630268408991742

PubMed ID: 10206681

Title: Alpha-thalassaemia due to a single codon deletion in the alpha 1-globin gene. Computational structural analysis of the new alpha-chain variant.

PubMed ID: 10206681

DOI: 10.1002/(sici)1098-1004(1998)11:5<412::aid-humu15>3.0.co;2-o

PubMed ID: 2101836

Title: Hb Davenport or alpha 2(78)(EF7)Asn-->His beta 2.

PubMed ID: 2101836

DOI: 10.3109/03630269009046968

PubMed ID: 2606724

Title: Hb Evans or alpha 262(E11)Val-->Met beta 2; an unstable hemoglobin causing a mild hemolytic anemia.

PubMed ID: 2606724

DOI: 10.3109/03630268908993106

PubMed ID: 2752146

Title: Locus assignment of two alpha-globin structural mutants from the Caribbean basin: alpha Fort de France (alpha 45 Arg) and alpha Spanish Town (alpha 27 Val).

PubMed ID: 2752146

PubMed ID: 9494044

Title: Hb Godavari [alpha 95(G2)Pro-->Thr]: a neutral amino acid substitution in the alpha 1 beta 2 interface that modifies the electrophoretic mobility of hemoglobin.

PubMed ID: 9494044

DOI: 10.3109/03630269809071513

PubMed ID: 4528583

Title: Hemoglobin Grady: the first example of a variant with elongated chains due to an insertion of residues.

PubMed ID: 4528583

DOI: 10.1073/pnas.71.8.3270

PubMed ID: 1634363

Title: A new alpha chain variant, Hb Hanamaki or alpha 2(139)(HC1)Lys-->Glu beta 2, found in a Japanese family.

PubMed ID: 1634363

DOI: 10.3109/03630269209005677

PubMed ID: 6815131

Title: HB Handa [alpha 90 (FG 2) Lys replaced by Met]: structure and biosynthesis of a new slightly higher oxygen affinity variant.

PubMed ID: 6815131

DOI: 10.3109/03630268208996943

PubMed ID: 5780195

Title: Hemoglobin Hasharon (alpha-2-47 his(CD5)beta-2): a hemoglobin found in low concentration.

PubMed ID: 5780195

DOI: 10.1172/jci106041

PubMed ID: 3654264

Title: Hemoglobin Hobart or alpha 20(Bl)His-->Arg: a new alpha chain hemoglobin variant.

PubMed ID: 3654264

DOI: 10.3109/03630268709017887

PubMed ID: 4212045

Title: Haemoglobin Inkster (alpha2 85aspartic acid leads to valine beta2) coexisting with beta-thalassaemia in a Caucasian family.

PubMed ID: 4212045

DOI: 10.1111/j.1365-2141.1974.tb00489.x

PubMed ID: 1634355

Title: Hb Kanagawa [alpha 40(C5)Lys-->Met]: a new alpha chain variant with an increased oxygen affinity.

PubMed ID: 1634355

DOI: 10.3109/03630269209005670

PubMed ID: 8195005

Title: Hb Kurdistan [alpha 47(CE5)Asp-->Tyr], a new alpha chain variant in combination with beta (0)-thalassemia.

PubMed ID: 8195005

DOI: 10.3109/03630269409014141

PubMed ID: 7558876

Title: Hb Kurosaki [alpha 7(A5)Lys-->Glu]: a new alpha chain variant found in a Japanese woman.

PubMed ID: 7558876

DOI: 10.3109/03630269509036940

PubMed ID: 7713747

Title: A case of HB J-Meerut (or Hb J-Birmingham) [alpha 120(H3)Ala-->Glu].

PubMed ID: 7713747

DOI: 10.3109/03630269409045775

PubMed ID: 8294199

Title: Hb Melusine [alpha 114(GH2)Pro-->Ser]: a new neutral hemoglobin variant.

PubMed ID: 8294199

DOI: 10.3109/03630269308997494

PubMed ID: 1115799

Title: Two new hemoglobins. Hemoglobin Alabama (beta39(C5)Gln leads to Lys) and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg).

PubMed ID: 1115799

PubMed ID: 7470621

Title: Hemoglobin Petah Tikva (alpha 110 Ala replaced by Asp): a new unstable variant with alpha-thalassemia-like expression.

PubMed ID: 7470621

PubMed ID: 9452028

Title: Hemoglobin Phnom Penh [alpha117Phe(H1)-Ile-alpha118Thr(H2)]; evidence for a hotspot for insertion of residues in the third exon of the alpha1-globin gene.

PubMed ID: 9452028

DOI: 10.1002/humu.1380110107

PubMed ID: 1802882

Title: Hb Port Huron [alpha 56 (E5)Lys-->Arg]: a new alpha chain variant.

PubMed ID: 1802882

DOI: 10.3109/03630269108998858

PubMed ID: 7161109

Title: Hb Shenyang (alpha 26 (B7) Ala replaced by Glu): a new unstable variant found in China.

PubMed ID: 7161109

PubMed ID: 478977

Title: Hemoglobin Suan-Dok (alpha 2 109 (G16) Leu replaced by Arg beta 2): an unstable variant associated with alpha-thalassemia.

PubMed ID: 478977

DOI: 10.3109/03630267908998911

Sequence Information:

Length: 142
Mass: 15258
Checksum: 15E13666573BBBAE
Sequence:

MVLSPADKTN VKAAWGKVGA HAGEYGAEAL ERMFLSFPTT KTYFPHFDLS HGSAQVKGHG 
KKVADALTNA VAHVDDMPNA LSALSDLHAH KLRVDPVNFK LLSHCLLVTL AAHLPAEFTP 
AVHASLDKFL ASVSTVLTSK YR

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.

Details for: HBA1

Associated with

Cells (max top 100)

Other Information

The 3' untranslated regions of the duplicated human alpha-globin genes are unexpectedly divergent. PubMed ID: 7448866

Nucleotide sequence of the coding portion of human alpha globin messenger RNA. PubMed ID: 6244294

Cloning and complete nucleotide sequence of human 5'-alpha-globin gene. PubMed ID: 6452630

Mutation in an intervening sequence splice junction in man. PubMed ID: 6946451

Alpha2(CD31 AGG--&gt;AAG, Arg--&gt;Lys) causing non-deletional alpha-thalassemia in a Chinese family with HbH disease. PubMed ID: 11410421

Rapid detection of the common alpha-thalassemia-2 determinants by PCR assay. PubMed ID: 11402454

A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. PubMed ID: 16728641

Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. PubMed ID: 11157797

The sequence and analysis of duplication-rich human chromosome 16. PubMed ID: 15616553

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

The constitution of normal adult human haemoglobin. PubMed ID: 13872627

The structure of human hemoglobin: IV. The chymotryptic digestion of the alpha chain of human hemoglobin. PubMed ID: 13954546

The amino acid sequence of the alpha chain of human fetal hemoglobin. PubMed ID: 14093912

Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. PubMed ID: 12665801

Hb Ethiopia or alpha 2(140)(HC2)Tyr----His beta 2. PubMed ID: 1428951

Sites of nonenzymatic glycosylation of human hemoglobin A. PubMed ID: 7358733

Hookworm aspartic protease, Na-APR-2, cleaves human hemoglobin and serum proteins in a host-specific fashion. PubMed ID: 12552433

Hemopressin is an inverse agonist of CB1 cannabinoid receptors. PubMed ID: 18077343

Lysine acetylation targets protein complexes and co-regulates major cellular functions. PubMed ID: 19608861

Initial characterization of the human central proteome. PubMed ID: 21269460

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Three-dimensional Fourier synthesis of human deoxyhaemoglobin at 2.5-A resolution: refinement of the atomic model. PubMed ID: 1177322

The structure of human carbonmonoxy haemoglobin at 2.7-A resolution. PubMed ID: 7373648

A third quaternary structure of human hemoglobin A at 1.7-A resolution. PubMed ID: 1512262

Crystal structure of a human embryonic haemoglobin: the carbonmonoxy form of Gower II (alpha2 epsilon2) haemoglobin at 2.9-A resolution. PubMed ID: 9665850

Accommodation of insertions in helices: the mutation in hemoglobin Catonsville (Pro 37 alpha-Glu-Thr 38 alpha) generates a 3(10)--&gt;alpha bulge. PubMed ID: 8448109

Structure-function analyses reveal key features in Staphylococcus aureus IsdB-associated unfolding of the heme-binding pocket of human hemoglobin. PubMed ID: 29109153

Hemoglobin J Cape Town-alpha-2 92 arginine replaced by glutamine beta-2. PubMed ID: 5988206

Subunit dissociation of the unstable hemoglobin Bibba (alpha 2-136Pro(H19)beta 2). PubMed ID: 5440849

Ligand binding in hemoglobin J Capetown. PubMed ID: 5091982

Clinical studies and physiological properties of Hopkins-2 haemoglobin. PubMed ID: 5288820

Haemoglobin Denmark Hill 95 (G2) Pro-Ala, a variant with unusual electrophoretic and oxygen-binding properties. PubMed ID: 5085669

Hb Setif: G1 (94) Asp-Tyr. A new chain hemoglobin variant with substitution of the residue involved in hydrogen bond between unlike subunits. PubMed ID: 4667378

Biosynthesis of hemoglobin Ann Arbor: evidence for catabolic and feedback regulation. PubMed ID: 5033650

Hemoglobin Sawara: alpha 6(A4) aspartic acid leads to alanine. PubMed ID: 4744335

Structure of hemoglobin M Boston, a variant with a five-coordinated ferric heme. PubMed ID: 4521212

A new haemoglobin variant: J-Rovigo alpha 53 (E-2) alanine leads to aspartic acid. PubMed ID: 4824923

Hemoglobin Hirosaki (alpha 43 [CE 1] Phe replaced by Leu), a new unstable variant. PubMed ID: 1182166

Hemoglobin Pontoise alpha63 Ala replaced by Asp(E12). A new fast moving variant. PubMed ID: 849454

Increased oxygen affinity for hemoglobin Sawara: alphaA4(6) aspartic acid replaced by alanine. PubMed ID: 20980

Haemoglobin Port Phillip alpha91 (FG3) Leu replaced by Pro, a new unstable haemoglobin. PubMed ID: 902765

Hemoglobin Moabit: alpha 86 (F7) Leu leads to Arg: a new unstable abnormal hemoglobin. PubMed ID: 108887

A new abnormal human hemoglobin: Hb Prato (alpha 2 31 (B12) Arg leads to Ser beta 2). PubMed ID: 486536

Hemoglobin Dunn: alpha 6 (A4) aspartic acid replaced by asparagine. PubMed ID: 478975

Oxygen affinity and stability of hemoglobin Dunn alpha 6(A4)Asp replaced by Asn): use of isoelectric focusing in recognition of a new abnormal hemoglobin. PubMed ID: 7435503

Hemoglobin Milledgeville (alpha 44 (CD2) Pro leads to Leu): a new variant with increased oxygen affinity. PubMed ID: 7213661

Hemoglobin Legnano (alpha 2 141 (HC3) Arg leads to Leu beta2) a new high oxygen affinity variant. Functional and structural studies. PubMed ID: 7462179

Structural and functional studies of hemoglobin Suresnes (arg 141 alpha 2 replaced by His beta 2). Consequences of disrupting an oxygen-linked anion-binding site. PubMed ID: 7410435

Haemoglobin Ferndown (alpha 6 [A4] aspartic acid replaced by valine). PubMed ID: 7238857

Hemoglobin Tottori (alpha 59[E8] glycine replaced by valine). PubMed ID: 7275660

Hemoglobin Kawachi [alpha 44 (CE2) Pro leads to Arg]: a new hemoglobin variant of high oxygen affinity with amino acid substitution at alpha 1 beta 2 contact. PubMed ID: 7068434

HB Kokura [alpha 47 (CE 5) Asp leads to Gly]: a slightly unstable variant. PubMed ID: 7068437

Hemoglobin Evanston: alpha 14(A12) Trp leads to Arg. A variant hemoglobin associated with alpha-thalassemia-2. PubMed ID: 6882779

Hemoglobin Tokoname [alpha 139 (HC 1) Lys leads to Thr]: a new hemoglobin variant with a slightly increased oxygen affinity. PubMed ID: 6188720

A case of hemoglobin Iwata [alpha 87(F8)His leads to Arg] in China. PubMed ID: 6874376

Hb Etobicoke, alpha 85(F5) Ser leads to Arg found in a newborn of French-Indian-English descent. PubMed ID: 6874377

Hemoglobin Aichi [alpha 50(CE8) His----Arg]: a new slightly unstable hemoglobin variant discovered in Japan. PubMed ID: 6714429

Hb Cordele alpha(2)47 (CE5)Asp----Ala beta 2. A mildly unstable variant observed in black twins. PubMed ID: 6547117

The characterization of hemoglobin Manitoba or alpha (2)102(G9)Ser----Arg beta 2 and hemoglobin Contaldo or alpha (2)103(G10)His----Arg beta 2 by high performance liquid chromatography. PubMed ID: 6547932

Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia. PubMed ID: 6725558

A new hemoglobin variant, hemoglobin Nunobiki [alpha 141 (HC3) Arg----Cys]. Notable influence of the carboxy-terminal cysteine upon various physico-chemical characteristics of hemoglobin. PubMed ID: 3973024

Increased oxygen affinity with normal heterotropic effects in hemoglobin Loire [alpha 88(F9)Ala----Ser]. PubMed ID: 3142772

Hb Luxembourg [alpha 24(B5) Tyr----His]: a new unstable variant. PubMed ID: 2599879

Hb Miyano or alpha 41(C6)Thr----Ser: a new high oxygen affinity alpha chain variant found in an erythremic blood donor. PubMed ID: 2634665

Hb Reims [alpha 2(23)(B4)Glu----Gly beta 2]: a new alpha chain variant with slightly decreased stability. PubMed ID: 2634669

Structural, functional, and subunit assembly properties of hemoglobin Attleboro [alpha 138 (H21) Ser----Pro], a variant possessing a site maturation at a critical C-terminal residue. PubMed ID: 2108715

Hb Fukutomi [alpha 126(H9)Asp----Val]: a new hemoglobin variant with high oxygen affinity. PubMed ID: 2079432

Hemoglobin Dallas (alpha 97(G4)Asn--&gt;Lys): functional characterization of a high oxygen affinity natural mutant. PubMed ID: 1390940

Hemoglobin Rouen (alpha-140 (HC2) Tyr--&gt;His): alteration of the alpha-chain C-terminal region and moderate increase in oxygen affinity. PubMed ID: 1390944

HB Al-Ain Abu Dhabi [alpha 18(A16)Gly--&gt;Asp]: a new hemoglobin variant discovered in an Emiratee family. PubMed ID: 1428941

Unstable alpha-chain hemoglobin variants with factitious beta-thalassemia biosynthetic ratio: Hb Questembert (alpha 131[H14]Ser--&gt;Pro) and Hb Caen (alpha 132[H15]Val--&gt;Gly). PubMed ID: 8493987

Hb Adana or alpha 2(59)(E8)Gly--&gt;Asp beta 2, a severely unstable alpha 1-globin variant, observed in combination with the -(alpha)20.5 Kb alpha-thal-1 deletion in two Turkish patients. PubMed ID: 8237999

Hb Montefiore (126(H9)Asp--&gt;Tyr). High oxygen affinity and loss of cooperativity secondary to C-terminal disruption. PubMed ID: 8798486

Hemoglobin Atago (alpha2-85 Tyr beta-2) a new abnormal human hemoglobin found in Nagasaki. Biochemical studies on hemoglobins and myoglobins. VI. PubMed ID: 5115619

Hb Auckland [alpha 87(F8) His--&gt;Asn]: a new mutation of the proximal histidine identified by electrospray mass spectrometry. PubMed ID: 9322075