Details for: HBA1

Gene ID: 3039

Symbol: HBA1

Ensembl ID: ENSG00000206172

Description: hemoglobin subunit alpha 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: basophilic erythroblast (CL0000549)
    Fold Change: 224.7444
    Cell Significance Index: 102.3500
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 29.8339
    Cell Significance Index: -12.2900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 28.7411
    Cell Significance Index: -7.2900
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 24.0598
    Cell Significance Index: 404.6700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 23.7565
    Cell Significance Index: -12.2200
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 10.4718
    Cell Significance Index: 30.0100
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 8.7909
    Cell Significance Index: 23.1900
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 6.3264
    Cell Significance Index: 39.1400
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 5.9979
    Cell Significance Index: 51.8800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.4100
    Cell Significance Index: -9.5100
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 2.2887
    Cell Significance Index: 25.9100
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.9768
    Cell Significance Index: 16.1200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.8679
    Cell Significance Index: 50.0500
  • Cell Name: reticulocyte (CL0000558)
    Fold Change: 1.8420
    Cell Significance Index: 9.6900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.7973
    Cell Significance Index: 37.6200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 1.7431
    Cell Significance Index: 18.9500
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 1.4877
    Cell Significance Index: 6.5900
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 1.2003
    Cell Significance Index: 15.1200
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 1.1577
    Cell Significance Index: 6.8400
  • Cell Name: chondroblast (CL0000058)
    Fold Change: 1.0732
    Cell Significance Index: 6.3000
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.0188
    Cell Significance Index: 4.2400
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 0.6344
    Cell Significance Index: 6.7500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4482
    Cell Significance Index: 28.2500
  • Cell Name: cardiac mesenchymal cell (CL0000569)
    Fold Change: 0.2670
    Cell Significance Index: 1.1400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2532
    Cell Significance Index: 15.5600
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.1893
    Cell Significance Index: 1.1900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1476
    Cell Significance Index: 3.9400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1453
    Cell Significance Index: 28.8400
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: 0.0983
    Cell Significance Index: 0.4700
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.0828
    Cell Significance Index: 0.5000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0795
    Cell Significance Index: 1.3300
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: 0.0555
    Cell Significance Index: 0.3400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0310
    Cell Significance Index: 3.9800
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.0281
    Cell Significance Index: 0.3600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0064
    Cell Significance Index: 1.8500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0054
    Cell Significance Index: 4.0500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0021
    Cell Significance Index: 0.3700
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.0016
    Cell Significance Index: -0.0100
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.0016
    Cell Significance Index: -0.0100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0048
    Cell Significance Index: -9.1200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0090
    Cell Significance Index: -4.9200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0122
    Cell Significance Index: -9.0400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0132
    Cell Significance Index: -5.8200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0148
    Cell Significance Index: -5.3200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0171
    Cell Significance Index: -10.8800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0211
    Cell Significance Index: -11.9200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0238
    Cell Significance Index: -10.7900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0264
    Cell Significance Index: -3.2400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0312
    Cell Significance Index: -6.2600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0431
    Cell Significance Index: -5.9200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0515
    Cell Significance Index: -10.8400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0543
    Cell Significance Index: -5.5500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0582
    Cell Significance Index: -1.4000
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0593
    Cell Significance Index: -0.9400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0641
    Cell Significance Index: -10.9500
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0738
    Cell Significance Index: -1.8800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0741
    Cell Significance Index: -10.7700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0791
    Cell Significance Index: -10.2200
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.0809
    Cell Significance Index: -0.4800
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.0895
    Cell Significance Index: -0.8500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0952
    Cell Significance Index: -9.9100
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0956
    Cell Significance Index: -0.9900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0965
    Cell Significance Index: -11.0600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0986
    Cell Significance Index: -1.1200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1112
    Cell Significance Index: -5.8400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1191
    Cell Significance Index: -14.0500
  • Cell Name: erythroblast (CL0000765)
    Fold Change: -0.1325
    Cell Significance Index: -1.5800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1330
    Cell Significance Index: -9.9200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1343
    Cell Significance Index: -6.3100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1349
    Cell Significance Index: -10.3500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1396
    Cell Significance Index: -3.9000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1620
    Cell Significance Index: -10.8900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1697
    Cell Significance Index: -10.9500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1770
    Cell Significance Index: -4.7400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1873
    Cell Significance Index: -6.5100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2018
    Cell Significance Index: -12.3700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2023
    Cell Significance Index: -11.3500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2166
    Cell Significance Index: -7.0900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2190
    Cell Significance Index: -5.6300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.2317
    Cell Significance Index: -10.5000
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.2327
    Cell Significance Index: -3.6000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2350
    Cell Significance Index: -6.1800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2354
    Cell Significance Index: -12.2300
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: -0.2449
    Cell Significance Index: -2.7000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2608
    Cell Significance Index: -9.1400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2694
    Cell Significance Index: -11.9200
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.2708
    Cell Significance Index: -3.9600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2801
    Cell Significance Index: -8.2500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3024
    Cell Significance Index: -9.6300
  • Cell Name: peridermal cell (CL0000078)
    Fold Change: -0.3046
    Cell Significance Index: -1.9000
  • Cell Name: articular chondrocyte (CL1001607)
    Fold Change: -0.3081
    Cell Significance Index: -1.6700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3108
    Cell Significance Index: -11.7700
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.3140
    Cell Significance Index: -4.5000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.3205
    Cell Significance Index: -11.7700
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.3224
    Cell Significance Index: -3.1900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.3289
    Cell Significance Index: -6.4200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3369
    Cell Significance Index: -15.7100
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.3415
    Cell Significance Index: -14.8500
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.3443
    Cell Significance Index: -3.3700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.3537
    Cell Significance Index: -12.4300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** The HBA1 gene is a crucial component of the hemoglobin complex, which consists of four subunits: two alpha and two beta subunits. The alpha subunit is responsible for binding oxygen and releasing carbon dioxide, a process essential for maintaining the balance of oxygen and carbon dioxide in the body. The alpha subunit also exhibits a range of other functions, including: 1. **Heme binding and signaling**: The alpha subunit binds heme, a crucial cofactor for various cellular processes, including electron transport and antioxidant defenses. 2. **Scavenging of heme**: The alpha subunit can bind and scavenge free heme from the plasma, preventing oxidative stress and cellular damage. 3. **Protein binding and interaction**: The alpha subunit interacts with various proteins, including cytoskeletal proteins, which regulate its stability and function. **Pathways and Functions:** The HBA1 gene is involved in several cellular pathways, including: 1. **Oxygen transport**: The alpha subunit binds oxygen and releases carbon dioxide, facilitating the transport of oxygen to tissues and organs. 2. **Cellular responses to stimuli**: The alpha subunit is involved in various cellular responses to stimuli, including stress, chemical signals, and oxidative stress. 3. **Cytoprotection**: The alpha subunit can protect cells from oxidative stress by scavenging free heme and binding to antioxidant enzymes. 4. **Cellular oxidant detoxification**: The alpha subunit can participate in the detoxification of reactive oxygen species (ROS) by binding to antioxidant enzymes. **Clinical Significance:** Dysregulation of the HBA1 gene has been implicated in various diseases, including: 1. **Sickle cell disease**: A genetic disorder caused by a mutation in the HBA1 gene, leading to abnormal hemoglobin production and tissue damage. 2. **Thalassemia**: A genetic disorder caused by mutations in the HBA1 and HBB genes, leading to reduced hemoglobin production and anemia. 3. **Oxidative stress and aging**: The alpha subunit's role in scavenging free heme and binding to antioxidant enzymes makes it a potential target for therapeutic interventions aimed at mitigating oxidative stress and promoting healthy aging. In conclusion, the HBA1 gene encodes for the alpha subunit of hemoglobin, a critical protein involved in oxygen transport, cellular homeostasis, and antioxidant defenses. Its dysregulation has been implicated in various diseases, highlighting the importance of further research into the mechanisms of HBA1 function and its potential therapeutic applications.

Genular Protein ID: 2087808431

Symbol: HBA_HUMAN

Name: Hemoglobin subunit alpha

UniProtKB Accession Codes:

P69905 P01922 Q1HDT5 Q3MIF5 Q53F97 Q96KF1 Q9NYR7 Q9UCM0

Database IDs:

ABCD 1 AGR 2 AlphaFoldDB 1 Antibodypedia 2 Bgee 1 BindingDB 1 BioGRID 2 BioGRID-ORCS 2 BioMuta 1 CCDS 2 CDD 1 CPTAC 2 CTD 2 CarbonylDB 1 ChEBI 3 ChEMBL 1 ChiTaRS 2 ComplexPortal 5 DIP 1 DMDM 1 DNASU 1 DisGeNET 2 DrugBank 29 DrugCentral 1 EMBL 27 EMDB 7 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 20 Gene3D 1 GeneCards 2 GeneReviews 2 GeneTree 1 GeneWiki 3 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 2 HPA 2 InParanoid 1 IntAct 1 InterPro 6 KEGG 2 MANE-Select 2 MIM 9 MINT 1 MalaCards 2 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 2 Orphanet 5 OrthoDB 1 PANTHER 2 PDB 100 PDBsum 100 PIR 3 PRIDE 1 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 5 RefSeq 2 SASBDB 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 2 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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

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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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.