Details for: HOXA1

Gene ID: 3198

Symbol: HOXA1

Ensembl ID: ENSG00000105991

Description: homeobox A1

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: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.21
    Marker Score: 2506.5
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.15
    Marker Score: 7667
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4820
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 797
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71833
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48058
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 508
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 462
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5339
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 373
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.92
    Marker Score: 584
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 325
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5289
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.84
    Marker Score: 569
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1262
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 396
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.76
    Marker Score: 694
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.74
    Marker Score: 1293
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.53
    Marker Score: 342
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.53
    Marker Score: 1083
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.53
    Marker Score: 278
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.5
    Marker Score: 716
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.48
    Marker Score: 918.5
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.46
    Marker Score: 276
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.4
    Marker Score: 145
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.39
    Marker Score: 122
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.39
    Marker Score: 125
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.36
    Marker Score: 113
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.32
    Marker Score: 84
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.3
    Marker Score: 718
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.29
    Marker Score: 414
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.29
    Marker Score: 290
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.27
    Marker Score: 341
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.26
    Marker Score: 265
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.25
    Marker Score: 375
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.22
    Marker Score: 133
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 62
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.21
    Marker Score: 72
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.21
    Marker Score: 436
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.19
    Marker Score: 328
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.18
    Marker Score: 73
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 41
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.16
    Marker Score: 109
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.15
    Marker Score: 64
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.14
    Marker Score: 37
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 0.14
    Marker Score: 108
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.13
    Marker Score: 376
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.12
    Marker Score: 81
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.12
    Marker Score: 53
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.12
    Marker Score: 80
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.11
    Marker Score: 60
  • Cell Name: memory T cell (CL0000813)
    Fold Change: 0.1
    Marker Score: 45
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.1
    Marker Score: 900
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.1
    Marker Score: 31
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.1
    Marker Score: 30
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.1
    Marker Score: 107
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.1
    Marker Score: 607
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.09
    Marker Score: 30
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.09
    Marker Score: 65
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.09
    Marker Score: 66
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.09
    Marker Score: 1416
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.09
    Marker Score: 21
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.09
    Marker Score: 93
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.09
    Marker Score: 25
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.09
    Marker Score: 133
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.09
    Marker Score: 110
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.09
    Marker Score: 76
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.08
    Marker Score: 21
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.08
    Marker Score: 261
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.08
    Marker Score: 70.5
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.08
    Marker Score: 79
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.08
    Marker Score: 37
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.08
    Marker Score: 17
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.08
    Marker Score: 45
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.08
    Marker Score: 37
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.08
    Marker Score: 61
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 0.08
    Marker Score: 17
  • Cell Name: NKp44-negative group 3 innate lymphoid cell, human (CL0001080)
    Fold Change: 0.07
    Marker Score: 16
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.07
    Marker Score: 29
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.07
    Marker Score: 203
  • Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
    Fold Change: 0.07
    Marker Score: 62
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.07
    Marker Score: 927
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.07
    Marker Score: 76
  • Cell Name: type I enteroendocrine cell (CL0002277)
    Fold Change: 0.07
    Marker Score: 17
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.07
    Marker Score: 36
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.07
    Marker Score: 17
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.07
    Marker Score: 891.5
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.07
    Marker Score: 24
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.07
    Marker Score: 155.5
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.07
    Marker Score: 16
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.07
    Marker Score: 77
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 0.07
    Marker Score: 17
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.07
    Marker Score: 41
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.06
    Marker Score: 16
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.06
    Marker Score: 16

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Other Information

**Key characteristics:** * HOXA1 is a large gene with a complex structure that includes multiple exons and intron regions. * The protein encoded by HOXA1 is a transcription factor that is essential for the development of the abducens nerve. * HOXA1 is also involved in the activation of anterior hox genes during early embryogenesis. * The protein encoded by HOXA1 is also involved in the differentiation of the inner ear, the development of the outer ear, and the regulation of transcription by RNA polymerase II. **Pathways and functions:** * HOXA1 is involved in the formation of the abducens nerve by regulating the expression of genes that are essential for the development of the eye. * The protein encoded by HOXA1 is also involved in the activation of anterior hox genes during early embryogenesis. * HOXA1 is also involved in the differentiation of the inner ear, the development of the outer ear, and the regulation of transcription by RNA polymerase II. **Clinical significance:** HOXA1 mutations have been linked to a number of human diseases, including Hirschsprung's disease, which is characterized by an absence of the abducens nerve. HOXA1 mutations can also cause other developmental disorders, such as autism and schizophrenia. **Additional information:** * HOXA1 is a member of the homeobox gene family of transcription factors. * The homeodomain of HOXA1 is responsible for its DNA binding activity. * HOXA1 is a key regulator of gene expression in the developing embryo.

Genular Protein ID: 1721117382

Symbol: HXA1_HUMAN

Name: Homeobox protein Hox-A1

UniProtKB Accession Codes:

P49639 A4D184 B2R8U7 O43363

Database IDs:

AGR 1 AlphaFoldDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 12 GO 25 Gene3D 1 GeneCards 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MIM 4 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 Orphanet 2 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 1 RefSeq 2 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 2 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7622051

Title: Structure and function of the HOX A1 human homeobox gene cDNA.

PubMed ID: 7622051

DOI: 10.1016/0378-1119(95)92712-g

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

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: 7488013

Title: Retinoic acid induces three newly cloned HOXA1 transcripts in MCF7 breast cancer cells.

PubMed ID: 7488013

DOI: 10.1006/bbrc.1995.2522

PubMed ID: 9191052

Title: The highest affinity DNA element bound by Pbx complexes in t(1;19) leukemic cells fails to mediate cooperative DNA-binding or cooperative transactivation by E2a-Pbx1 and class I Hox proteins - evidence for selective targetting of E2a-Pbx1 to a subset of Pbx-recognition elements.

PubMed ID: 9191052

DOI: 10.1038/sj.onc.1201097

PubMed ID: 11091361

Title: Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders.

PubMed ID: 11091361

DOI: 10.1002/1096-9926(200012)62:6<393::aid-tera6>3.0.co;2-v

PubMed ID: 16155570

Title: Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.

PubMed ID: 16155570

DOI: 10.1038/ng1636

Sequence Information:

  • Length: 335
  • Mass: 36641
  • Checksum: 3C3A2D0A59A4181C
  • Sequence:
    • MDNARMNSFL EYPILSSGDS GTCSARAYPS DHRITTFQSC AVSANSCGGD DRFLVGRGVQ 
IGSPHHHHHH HHHHPQPATY QTSGNLGVSY SHSSCGPSYG SQNFSAPYSP YALNQEADVS 
GGYPQCAPAV YSGNLSSPMV QHHHHHQGYA GGAVGSPQYI HHSYGQEHQS LALATYNNSL 
SPLHASHQEA CRSPASETSS PAQTFDWMKV KRNPPKTGKV GEYGYLGQPN AVRTNFTTKQ 
LTELEKEFHF NKYLTRARRV EIAASLQLNE TQVKIWFQNR RMKQKKREKE GLLPISPATP 
PGNDEKAEES SEKSSSSPCV PSPGSSTSDT LTTSH

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.