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    VAX1 ventral anterior homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 11023, updated on 17-Feb-2018
    Official Symbol
    VAX1provided by HGNC
    Official Full Name
    ventral anterior homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:12660
    See related
    Ensembl:ENSG00000148704 MIM:604294; Vega:OTTHUMG00000019117
    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
    MCOPS11
    Summary
    This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, called HOX genes are found in special gene clusters. This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family. Another member of VAX family is located on chromosome 2. The encoded protein may play an important role in the development of anterior ventral forebrain and visual system. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    Location:
    10q25.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (117128521..117138301, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (118888032..118897812, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene heat shock protein family A (Hsp70) member 12A Neighboring gene uncharacterized LOC105378498 Neighboring gene enolase 4 Neighboring gene shootin 1 Neighboring gene MIR3663 host gene Neighboring gene microRNA 3663 Neighboring gene ribosomal protein L12 pseudogene 26

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Anophthalmia-microphthalmia syndrome Compare labs
    Microphthalmia, syndromic 11
    MedGen: C3553077 OMIM: 614402 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.
    NHGRI GWA Catalog

    Markers

    Homology

    Clone Names

    • MGC126743, MGC126745

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    brain development IEA
    Inferred from Electronic Annotation
    more info
     
    camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    palate development IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    ventral anterior homeobox 1

    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_012317.1 RefSeqGene

      Range
      5001..10012
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001112704.1NP_001106175.1  ventral anterior homeobox 1 isoform a

      See identical proteins and their annotated locations for NP_001106175.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AK127095, AL731557
      Consensus CDS
      CCDS44483.1
      UniProtKB/Swiss-Prot
      Q5SQQ9
      Related
      ENSP00000358207.4, OTTHUMP00000020574, ENST00000369206.5, OTTHUMT00000050559
      Conserved Domains (2) summary
      COG5576
      Location:66184
      COG5576; Homeodomain-containing transcription factor [Transcription]
      pfam00046
      Location:103156
      Homeobox; Homeobox domain
    2. NM_199131.2NP_954582.1  ventral anterior homeobox 1 isoform b

      See identical proteins and their annotated locations for NP_954582.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and UTR compared to variant 1. The resulting isoform (b) has a shorter C-terminus compared to isoform a.
      Source sequence(s)
      AK127095, AL731557
      Consensus CDS
      CCDS7597.1
      UniProtKB/Swiss-Prot
      Q5SQQ9
      Related
      ENSP00000277905.2, OTTHUMP00000180555, ENST00000277905.6, OTTHUMT00000280394
      Conserved Domains (1) summary
      pfam00046
      Location:103143
      Homeobox; Homeobox domain

    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_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      117128521..117138301 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      119172341..119182118 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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