ENSG00000148704


Homo sapiens

Features
Gene ID: ENSG00000148704
  
Biological name :VAX1
  
Synonyms : Q5SQQ9 / VAX1 / ventral anterior homeobox 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: q25.3
Gene start: 117128521
Gene end: 117138301
  
Corresponding Affymetrix probe sets:
  
Cross references: Ensembl peptide - ENSP00000277905
Ensembl peptide - ENSP00000358207
NCBI entrez gene - 11023     See in Manteia.
OMIM - 604294
RefSeq - NM_001112704
RefSeq - NM_199131
RefSeq Peptide - NP_001106175
RefSeq Peptide - NP_954582
swissprot - Q5SQQ9
Ensembl - ENSG00000148704
  
Related genetic diseases (OMIM): 614402 - ?Microphthalmia, syndromic 11, 614402

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 vax1ENSDARG00000021916Danio rerio
 VAX1ENSGALG00000009261Gallus gallus
 Vax1ENSMUSG00000006270Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
VAX2 / Q9UIW0 / ventral anterior homeobox 2ENSG0000011603546
EMX1 / Q04741 / empty spiracles homeobox 1ENSG0000013563816
EN2 / P19622 / engrailed homeobox 2ENSG0000016477816
NOTO / A8MTQ0 / notochord homeoboxENSG0000021451316
EN1 / Q05925 / engrailed homeobox 1ENSG0000016306414
EMX2 / Q04743 / empty spiracles homeobox 2ENSG0000017037013


Protein motifs (from Interpro)
Interpro ID Name
 IPR000047  Helix-turn-helix motif
 IPR001356  Homeobox domain
 IPR009057  Homeobox-like domain superfamily
 IPR017970  Homeobox, conserved site
 IPR033020  Ventral anterior homeobox 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0001764 neuron migration IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007406 negative regulation of neuroblast proliferation IEA
 biological_processGO:0007411 axon guidance IEA
 biological_processGO:0007417 central nervous system development IEA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0035914 skeletal muscle cell differentiation IEA
 biological_processGO:0043010 camera-type eye development IEA
 biological_processGO:0060021 roof of mouth development IEA
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001162 RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0031490 chromatin DNA binding IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000175 Cleft palate "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators]
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 HP:0000204 Cleft lip "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson]
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 HP:0000568 Microphthalmos "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001274 Agenesis of corpus callosum "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators]
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 HP:0012687 Agenesis of pineal gland "Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present." [UToronto:htrang]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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