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HOXA1 homeobox A1 [ Homo sapiens (human) ]

Gene ID: 3198, updated on 7-Apr-2024

Summary

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Official Symbol
HOXA1provided by HGNC
Official Full Name
homeobox A1provided by HGNC
Primary source
HGNC:HGNC:5099
See related
Ensembl:ENSG00000105991 MIM:142955; AllianceGenome:HGNC:5099
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BSAS; HOX1; HOX1F
Summary
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region. [provided by RefSeq, Jul 2008]
Expression
Biased expression in urinary bladder (RPKM 4.0), skin (RPKM 1.0) and 13 other tissues See more
Orthologs
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Genomic context

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Location:
7p15.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (27092993..27096000, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (27228895..27231899, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (27132612..27135619, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene tropomyosin 3 pseudogene 4 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:27069907-27070612 Neighboring gene NHP2 ribonucleoprotein pseudogene 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:27131207-27132117 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:27133706-27134206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:27134207-27134707 Neighboring gene Sharpr-MPRA regulatory region 2148 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:27136009-27136581 Neighboring gene HOXA transcript antisense RNA, myeloid-specific 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:27142137-27142976 Neighboring gene homeobox A2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. HOXA1, a breast cancer oncogene. Belpaire M, et al. Biochim Biophys Acta Rev Cancer, 2022 Jul. PMID 35675857
  2. Homeobox A1 Facilitates Immune Escape and Alleviates Oxidative Stress in Lung Adenocarcinoma. Zhao F, et al. Oxid Med Cell Longev, 2022. PMID 35633885, Free PMC Article
  3. Upregulation of HOXA1 promotes tumorigenesis and development of non‑small cell lung cancer: A comprehensive investigation based on reverse transcription-quantitative polymerase chain reaction and bioinformatics analysis. Zhang Y, et al. Int J Oncol, 2018 Jul. PMID 29658571, Free PMC Article
  4. HOXA1 enhances the cell proliferation, invasion and metastasis of prostate cancer cells. Wang H, et al. Oncol Rep, 2015 Sep. PMID 26135141
  5. HOXA1 Mutations are Not Commonly Associated with Non-Syndromic Deafness. Abu-Amero KK, et al. Can J Neurol Sci, 2014 Jul. PMID 24878468

See all (116) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A poly-histidine motif of HOXA1 is involved in regulatory interactions with cysteine-rich proteins.
    Title: A poly-histidine motif of HOXA1 is involved in regulatory interactions with cysteine-rich proteins.
  2. Downregulation of homeobox A1 in human granulosa cells is involved in diminished ovarian reserve through promoting cell apoptosis and mitochondrial dysfunction.
    Title: Downregulation of homeobox A1 in human granulosa cells is involved in diminished ovarian reserve through promoting cell apoptosis and mitochondrial dysfunction.
  3. Circ_0058063 regulates the development of esophageal cancer through miR-377-3p/HOXA1 axis.
    Title: Circ_0058063 regulates the development of esophageal cancer through miR-377-3p/HOXA1 axis.
  4. HOXA1 promotes proliferation and metastasis of bladder cancer by enhancing SMAD3 transcription.
    Title: HOXA1 promotes proliferation and metastasis of bladder cancer by enhancing SMAD3 transcription.
  5. HOXA1, a breast cancer oncogene.
    Title: HOXA1, a breast cancer oncogene.
  6. Hsa_circ_0074032 promotes prostate cancer progression through elevating homeobox A1 expression by serving as a microRNA-198 decoy.
    Title: Hsa_circ_0074032 promotes prostate cancer progression through elevating homeobox A1 expression by serving as a microRNA-198 decoy.
  7. CircRASSF2 acts as a prognostic factor and promotes breast cancer progression by modulating miR-1205/HOXA1 axis.
    Title: CircRASSF2 acts as a prognostic factor and promotes breast cancer progression by modulating miR-1205/HOXA1 axis.
  8. MiR-10a-5p restrains the aggressive phenotypes of ovarian cancer cells by inhibiting HOXA1.
    Title: MiR-10a-5p restrains the aggressive phenotypes of ovarian cancer cells by inhibiting HOXA1.
  9. LncRNA HOTAIRM1 promotes MDSC expansion and suppressive functions through the HOXA1-miR124 axis during HCV infection.
    Title: LncRNA HOTAIRM1 promotes MDSC expansion and suppressive functions through the HOXA1-miR124 axis during HCV infection.
  10. miR-18a-3p Encourages Apoptosis of Chondrocyte in Osteoarthritis via HOXA1 Pathway.
    Title: miR-18a-3p Encourages Apoptosis of Chondrocyte in Osteoarthritis via HOXA1 Pathway.
Submit: New GeneRIF Correction See all GeneRIFs (76)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Human HOXA1 syndromes
MedGen: C1832215 OMIM: 601536 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat specifically associates with HOXA1 promoter to upregulate HOXA1 expression in T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC45232

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in abducens nerve formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in anatomical structure morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in artery development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in artery morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cochlea development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cochlea morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cognition IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in embryonic neurocranium morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in inner ear development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in neuromuscular process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in optokinetic behavior IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in outer ear morphogenesis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of behavior IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in semicircular canal formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sensory perception of sound IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
homeobox protein Hox-A1
Names
HOX A1 homeodomain protein
Hox 1.6-like protein
homeo box A1
homeobox 1F
homeobox protein Hox-1F
lab-like protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011813.2 RefSeqGene

    Range
    5000..8007
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005522.5 → NP_005513.2  homeobox protein Hox-A1 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC004079
    Consensus CDS
    CCDS5401.1
    UniProtKB/Swiss-Prot
    A4D184, B2R8U7, O43363, P49639
    UniProtKB/TrEMBL
    A0A2R8Y4R9
    Related
    ENSP00000494260.2, ENST00000643460.2
    Conserved Domains (2) summary
    COG5576
    Location:176 → 286
    COG5576; Homeodomain-containing transcription factor [Transcription]
    pfam00046
    Location:233 → 286
    Homeobox; Homeobox domain

  2. NM_153620.3 → NP_705873.3  homeobox protein Hox-A1 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC004079
    Consensus CDS
    CCDS5402.2
    UniProtKB/TrEMBL
    A4D185, E7ERT8
    Related
    ENSP00000347851.5, ENST00000355633.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    27092993..27096000 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    27228895..27231899 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P49639.2 GenPept UniProtKB/Swiss-Prot:P49639

Gene LinkOut

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