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

Gene ID: 11023, updated on 28-Mar-2020

Summary

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
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

Genomic context

See VAX1 in Genome Data Viewer
Location:
10q25.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (117128520..117138270, 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 enolase 4 Neighboring gene shootin 1 Neighboring gene VISTA enhancer hs841 Neighboring gene MIR3663 host gene Neighboring gene microRNA 3663 Neighboring gene ribosomal protein L12 pseudogene 26

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

General gene information

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
 
central nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron migration IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ventral anterior homeobox 1

NCBI Reference Sequences (RefSeq)

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
    5032..10012
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001112704.2NP_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, ENST00000369206.6
    Conserved Domains (2) summary
    COG5576
    Location:66184
    COG5576; Homeodomain-containing transcription factor [Transcription]
    pfam00046
    Location:103156
    Homeobox; Homeobox domain
  2. NM_199131.3NP_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, ENST00000277905.6
    Conserved Domains (1) summary
    pfam00046
    Location:103143
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    117128520..117138270 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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