Details for: HBQ1

Gene ID: 3049

Symbol: HBQ1

Ensembl ID: ENSG00000086506

Description: hemoglobin subunit theta 1

Associated with

Cells (max top 100)

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

  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 5.06
    Marker Score: 6097
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 2.48
    Marker Score: 21753
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.84
    Marker Score: 1248
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.63
    Marker Score: 10811
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.51
    Marker Score: 1578.5
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 1.45
    Marker Score: 717
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.43
    Marker Score: 2505
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.25
    Marker Score: 7553
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 1.22
    Marker Score: 3646
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.08
    Marker Score: 1547
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 1.06
    Marker Score: 32727
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71834.5
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48059
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2400
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5322
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.83
    Marker Score: 516
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.8
    Marker Score: 734
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 605
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 398
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.74
    Marker Score: 1199
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 179
  • Cell Name: enucleated reticulocyte (CL0002422)
    Fold Change: 0.67
    Marker Score: 248
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 0.63
    Marker Score: 432
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.61
    Marker Score: 308
  • Cell Name: reticulocyte (CL0000558)
    Fold Change: 0.55
    Marker Score: 234
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.55
    Marker Score: 230
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 434
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.53
    Marker Score: 394
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.47
    Marker Score: 898
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 278
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.45
    Marker Score: 226
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.43
    Marker Score: 107
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.39
    Marker Score: 215
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.38
    Marker Score: 5907
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.33
    Marker Score: 161.5
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.3
    Marker Score: 80
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.27
    Marker Score: 1633
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.27
    Marker Score: 86
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 0.26
    Marker Score: 80
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.26
    Marker Score: 529
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.24
    Marker Score: 316
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 0.24
    Marker Score: 182
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.22
    Marker Score: 277
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.21
    Marker Score: 112
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.2
    Marker Score: 96
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.2
    Marker Score: 250
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.2
    Marker Score: 103
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.19
    Marker Score: 401.5
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.19
    Marker Score: 113
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.18
    Marker Score: 174
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.17
    Marker Score: 59
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.17
    Marker Score: 151
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.16
    Marker Score: 68
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.16
    Marker Score: 47
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.16
    Marker Score: 52
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.14
    Marker Score: 62
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.14
    Marker Score: 94
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.14
    Marker Score: 61
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.13
    Marker Score: 47
  • Cell Name: platelet (CL0000233)
    Fold Change: 0.13
    Marker Score: 60
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.13
    Marker Score: 44
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.13
    Marker Score: 135
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.13
    Marker Score: 153
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.12
    Marker Score: 136
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.12
    Marker Score: 60
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.11
    Marker Score: 951
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.11
    Marker Score: 70
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 0.11
    Marker Score: 46
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: 0.11
    Marker Score: 49
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.1
    Marker Score: 339
  • Cell Name: memory T cell (CL0000813)
    Fold Change: 0.1
    Marker Score: 43
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.1
    Marker Score: 66
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.1
    Marker Score: 52
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.1
    Marker Score: 390
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.1
    Marker Score: 100
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.09
    Marker Score: 145
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.09
    Marker Score: 43
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.09
    Marker Score: 52
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.09
    Marker Score: 92
  • Cell Name: enucleate erythrocyte (CL0000595)
    Fold Change: 0.09
    Marker Score: 36
  • Cell Name: T-helper 17 cell (CL0000899)
    Fold Change: 0.09
    Marker Score: 59
  • Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
    Fold Change: 0.08
    Marker Score: 246
  • Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
    Fold Change: 0.08
    Marker Score: 74
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.08
    Marker Score: 126
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.08
    Marker Score: 53
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.08
    Marker Score: 31
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 0.08
    Marker Score: 26
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.08
    Marker Score: 36
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 0.08
    Marker Score: 29
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.08
    Marker Score: 46
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.07
    Marker Score: 23
  • Cell Name: cord blood hematopoietic stem cell (CL2000095)
    Fold Change: 0.07
    Marker Score: 50
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.07
    Marker Score: 66
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.06
    Marker Score: 70
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.06
    Marker Score: 26
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.06
    Marker Score: 86
  • Cell Name: Schwann cell precursor (CL0002375)
    Fold Change: 0.06
    Marker Score: 16
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.06
    Marker Score: 34
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.06
    Marker Score: 640
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.06
    Marker Score: 170

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Other Information

**Key characteristics:** * The HBQ1 gene is located on chromosome 15q21.1. * It is a large gene, encoding for a protein of 1452 amino acids. * The gene is expressed in a variety of tissues, including blood, heart, liver, kidney, and immune cells. * It is a key regulator of oxygen transport, and its expression is tightly controlled by the levels of oxygen in the blood. **Pathways and functions:** * The HBQ1 gene is involved in cellular oxidant detoxification, the formation of the haptoglobin-hemoglobin complex, and the binding of oxygen to hemoglobin. * It is also involved in the heme binding pathway, the formation of the haptoglobin-hemoglobin complex, and the binding of hydrogen peroxide to hemoglobin. * The protein encoded by the HBQ1 gene is a key regulator of oxygen transport in red blood cells. It is responsible for the transport of oxygen from the lungs to the tissues. **Clinical significance:** Mutations in the HBQ1 gene have been linked to a number of human diseases, including sickle cell anemia, thalassemia, and hereditary spherocytosis. These diseases are caused by mutations in the genes that encode the alpha- and beta-globin proteins, which are the two subunits of hemoglobin. When these genes are mutated, they can produce hemoglobin that is non-functional or has reduced function. This can lead to the formation of sickle cell anemia or thalassemia, depending on which gene is mutated. **Conclusion:** The HBQ1 gene is an essential gene for oxygen transport in red blood cells. Its expression is tightly controlled by the levels of oxygen in the blood, and its mutation can lead to a number of human diseases.

Genular Protein ID: 122231094

Symbol: HBAT_HUMAN

Name: Hemoglobin subunit theta-1

UniProtKB Accession Codes:

P09105 Q13723 Q1W6G5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 4 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 1 ExpressionAtlas 1 GO 10 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 3422341

Title: Structure and expression of the human theta 1 globin gene.

PubMed ID: 3422341

DOI: 10.1038/331094a0

PubMed ID: 3408475

Title: Nucleotide sequence of the human theta 1-globin gene.

PubMed ID: 3408475

DOI: 10.1007/bf00561460

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: 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: 2569721

Title: Unique sequence organization and erythroid cell-specific nuclear factor-binding of mammalian theta 1 globin promoters.

PubMed ID: 2569721

DOI: 10.1093/nar/17.14.5687

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

Sequence Information:

  • Length: 142
  • Mass: 15508
  • Checksum: 9D4F103D758694D6
  • Sequence:
    • MALSAEDRAL VRALWKKLGS NVGVYTTEAL ERTFLAFPAT KTYFSHLDLS PGSSQVRAHG 
QKVADALSLA VERLDDLPHA LSALSHLHAC QLRVDPASFQ LLGHCLLVTL ARHYPGDFSP 
ALQASLDKFL SHVISALVSE 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.