Version 5.4
Homo sapiens Protein: VANGL1
Summary
InnateDB Protein IDBP-101358.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol VANGL1
Protein Name vang-like 1 (van gogh, Drosophila)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000358522
InnateDB Gene IDBG-101350 (VANGL1)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
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.
Tissue Specificity According to PubMed:11956595, ubiquitously expressed. According to PubMed:12011995, expressed specifically in testis and ovary. {ECO:0000269PubMed:11956595, ECO:0000269PubMed:12011995}.
Comments
Interactions
Number of Interactions 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]
Protein-Protein 13 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0007275 multicellular organismal development
Cellular Component
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR009539 Strabismus
PFAM PF06638
PRINTS
PIRSF PIRSF007991
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8TAA9
PhosphoSite PhosphoSite-Q8TAA9
TrEMBL A0A024R0E3
UniProt Splice Variant
Entrez Gene 81839
UniGene Hs.604930
RefSeq
HUGO HGNC:15512
OMIM 610132
CCDS CCDS883
HPRD 18279
IMGT
EMBL AB057596 AB075805 AF481859 AL450389 BC032773 BC065272 CH471122
GenPept AAH32773 AAH65272 AAO61751 BAB86334 BAB86362 CAI23371 CAI23372 EAW56630 EAW56631 EAW56632

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca