Human Gene VANGL1 (ENST00000369509.1) Description and Page Index
Description: Interacts through its C-terminal region with the N- terminal half of DVL1, DVL2 and DVL3. The PDZ domain of DVL1, DVL2 and DVL3 is required for the interaction (By similarity). (from UniProt Q8TAA9) RefSeq Summary (NM_001172412): This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]. Gencode Transcript: ENST00000369509.1 Gencode Gene: ENSG00000173218.15 Transcript (Including UTRs) Position: hg38 chr1:115,651,402-115,691,854 Size: 40,453 Total Exon Count: 7 Strand: + Coding Region Position: hg38 chr1:115,651,414-115,691,379 Size: 39,966 Coding Exon Count: 7
ID:VANG1_HUMAN DESCRIPTION: RecName: Full=Vang-like protein 1; AltName: Full=Loop-tail protein 2 homolog; Short=LPP2; AltName: Full=Strabismus 2; AltName: Full=Van Gogh-like protein 1; SUBUNIT: Interacts through its C-terminal region with the N- terminal half of DVL1, DVL2 and DVL3. The PDZ domain of DVL1, DVL2 and DVL3 is required for the interaction (By similarity). INTERACTION: P27701:CD82; NbExp=6; IntAct=EBI-682393, EBI-682379; SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). TISSUE SPECIFICITY: According to PubMed:11956595, ubiquitously expressed. According to PubMed:12011995, expressed specifically in testis and ovary. DISEASE: Defects in VANGL1 are a cause of neural tube defects (NTD) [MIM:182940]. NTD are congenital malformations. The most common forms of NTD are described as open defects (including anencephaly and myelomeningocele, or spina bifida), which result from the failure of fusion in the cranial and spinal region of the neural tube, respectively. Other open dysraphisms (including myeloschisis, hemimyelomeningocele, and hemimyelocele) are sometimes associated with a Chiari type 2 malformation. A number of skin-covered (closed) NTD are categorized clinically depending on the presence of a subcutaneous mass (lipomyeloschisis, lipomyelomeningocele, meningocele, and myelocystocele) or the absence of such a mass (complex dysraphic states, including split cord malformations, dermal sinus, caudal regression, and segmental spinal dysgenesis). DISEASE: Defects in VANGL1 are a cause of sacral defect with anterior meningocele (SDAM) [MIM:600145]. SDAM is a 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. SIMILARITY: Belongs to the Vang family. SEQUENCE CAUTION: Sequence=AAH32773.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8TAA9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.