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    HOXA1 homeobox A1 [ Homo sapiens (human) ]

    Gene ID: 3198, updated on 5-Nov-2017
    Official Symbol
    HOXA1provided by HGNC
    Official Full Name
    homeobox A1provided by HGNC
    Primary source
    HGNC:HGNC:5099
    See related
    Ensembl:ENSG00000105991 MIM:142955; Vega:OTTHUMG00000023207
    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
    Location:
    7p15.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (27092993..27096006, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (27132612..27135625, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene tropomyosin 3 pseudogene 4 Neighboring gene NHP2 ribonucleoprotein pseudogene 2 Neighboring gene HOXA transcript antisense RNA, myeloid-specific 1 Neighboring gene homeobox A2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    • Activation of HOX genes during differentiation, organism-specific biosystem (from REACTOME)
      Activation of HOX genes during differentiation, organism-specific biosystemHox genes encode proteins that contain the DNA-binding homeobox motif and control early patterning of segments in the embryo as well as later events in development (reviewed in Rezsohazy et al. 2015)...
    • Activation of anterior HOX genes in hindbrain development during early embryogenesis, organism-specific biosystem (from REACTOME)
      Activation of anterior HOX genes in hindbrain development during early embryogenesis, organism-specific biosystemIn mammals, anterior Hox genes may be defined as paralog groups 1 to 4 (Natale et al. 2011), which are involved in development of the hindbrain through sequential expression in the rhombomeres, trans...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
      Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC45232

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    abducens nerve formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    anatomical structure morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    artery development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    artery morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cochlea development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cochlea morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cognition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    embryonic neurocranium morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    inner ear development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    multicellular organism development TAS
    Traceable Author Statement
    more info
    PubMed 
    neuromuscular process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    optokinetic behavior IDA
    Inferred from Direct Assay
    more info
    PubMed 
    outer ear morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of behavior IDA
    Inferred from Direct Assay
    more info
    PubMed 
    semicircular canal formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sensory perception of sound IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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_011813.1 RefSeqGene

      Range
      5001..8014
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005522.4NP_005513.1  homeobox protein Hox-A1 isoform a

      See identical proteins and their annotated locations for NP_005513.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      BC032547, DB246535
      Consensus CDS
      CCDS5401.1
      UniProtKB/Swiss-Prot
      P49639
      Related
      ENSP00000343246.4, OTTHUMP00000217129, ENST00000343060.4, OTTHUMT00000358454
      Conserved Domains (2) summary
      pfam00046
      Location:233285
      Homeobox; Homeobox domain
      cl27820
      Location:176286
      Abdominal-A; Homeobox protein
    2. NM_153620.2NP_705873.2  homeobox protein Hox-A1 isoform b

      See identical proteins and their annotated locations for NP_705873.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate coding segment compared to variant 1, which causes a frameshift. The resulting isoform (b) has a shorter, distinct C-terminus and lacks the homeodomain region compared to isoform a.
      Source sequence(s)
      BC032547, DB246535, S79871
      Consensus CDS
      CCDS5402.2
      UniProtKB/Swiss-Prot
      P49639
      Related
      ENSP00000347851.5, OTTHUMP00000217130, ENST00000355633.5, OTTHUMT00000358455

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      27092993..27096006 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      27132309..27135322 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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