InnateDB Protein
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IDBP-90779.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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VAX1
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Protein Name
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ventral anterior homeobox 1
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Synonyms
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MCOPS11;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000277905
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InnateDB Gene
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IDBG-90777 (VAX1)
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Protein Structure
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Function |
Transcription factor that may function in dorsoventral specification of the forebrain. Required for axon guidance and major tract formation in the developing forebrain. May contribute to the differentiation of the neuroretina, pigmented epithelium and optic stalk (By similarity). {ECO:0000250}.
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Subcellular Localization |
Nucleus {ECO:0000255PROSITE- ProRule:PRU00108}.
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Disease Associations |
Microphthalmia, syndromic, 11 (MCOPS11) [MIM:614402]: A rare clinical entity including as main characteristics microphthalmia and small optic nerves, cleft lip and palate, absence of corpus callosum, hippocampal malformations, and absence of the pineal gland. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. {ECO:0000269PubMed:22095910}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
Accession |
GO Term |
GO:0000976
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transcription regulatory region sequence-specific DNA binding
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GO:0003677
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DNA binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001356
Homeobox domain
IPR009057
Homeodomain-like
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PFAM |
PF00046
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PRINTS |
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PIRSF |
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SMART |
SM00389
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TIGRFAMs |
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Modification |
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SwissProt |
Q5SQQ9
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PhosphoSite |
PhosphoSite-Q5SQQ9
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
11023
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UniGene |
Hs.441536
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RefSeq |
NP_954582
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HUGO |
HGNC:12660
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OMIM |
604294
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CCDS |
CCDS7597
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HPRD |
16052
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IMGT |
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EMBL |
AK127095
AL731557
BC101694
BC101696
CH471066
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GenPept |
AAI01695
AAI01697
BAC86826
CAI14824
CAI14825
EAW49433
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