InnateDB Protein
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IDBP-101352.6
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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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VANGL1
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Protein Name
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vang-like 1 (van gogh, Drosophila)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000347672
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InnateDB Gene
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IDBG-101350 (VANGL1)
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Protein Structure
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Function |
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Subcellular Localization |
Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
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Disease Associations |
Neural tube defects (NTD) [MIM:182940]: Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. {ECO:0000269PubMed:17409324, ECO:0000269PubMed:19319979}. Note=The disease is caused by mutations affecting the gene represented in this entry.Sacral defect with anterior meningocele (SDAM) [MIM:600145]: Form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant. {ECO:0000269PubMed:17409324}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
According to PubMed:11956595, ubiquitously expressed. According to PubMed:12011995, expressed specifically in testis and ovary. {ECO:0000269PubMed:11956595, ECO:0000269PubMed:12011995}.
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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 13 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated |
Total |
13
[view]
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Protein-Protein |
13
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
6 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR009539
Strabismus
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PFAM |
PF06638
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PRINTS |
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PIRSF |
PIRSF007991
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8TAA9
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PhosphoSite |
PhosphoSite-Q8TAA9
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TrEMBL |
A0A024R0E3
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UniProt Splice Variant |
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Entrez Gene |
81839
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UniGene |
Hs.604930
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RefSeq |
NP_620409
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HUGO |
HGNC:15512
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OMIM |
610132
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CCDS |
CCDS883
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HPRD |
18279
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IMGT |
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EMBL |
AB057596
AB075805
AF481859
AL450389
BC032773
BC065272
CH471122
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GenPept |
AAH32773
AAH65272
AAO61751
BAB86334
BAB86362
CAI23371
CAI23372
EAW56630
EAW56631
EAW56632
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