UniProtKB - Q8TAA9 (VANG1_HUMAN)
Protein
Vang-like protein 1
Gene
VANGL1
Organism
Homo sapiens (Human)
Status
Functioni
GO - Biological processi
- multicellular organism development Source: InterPro
- pigmentation Source: Ensembl
- Wnt signaling pathway, planar cell polarity pathway Source: ParkinsonsUK-UCL
Enzyme and pathway databases
PathwayCommonsi | Q8TAA9 |
Protein family/group databases
TCDBi | 9.B.369.1.1, the van gogh-like protein (vangl) family |
Names & Taxonomyi
Protein namesi | Recommended name: Vang-like protein 1Alternative name(s): Loop-tail protein 2 homolog Short name: LPP2 Strabismus 2 Van Gogh-like protein 1 |
Gene namesi | Name:VANGL1 Synonyms:STB2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:15512, VANGL1 |
MIMi | 610132, gene |
neXtProti | NX_Q8TAA9 |
VEuPathDBi | HostDB:ENSG00000173218.14 |
Subcellular locationi
Plasma membrane
- Cell membrane By similarity; Multi-pass membrane protein By similarity
Plasma Membrane
- lateral plasma membrane Source: Ensembl
- plasma membrane Source: GO_Central
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 117 | CytoplasmicSequence analysisAdd BLAST | 117 | |
Transmembranei | 118 – 138 | Helical; Name=1Sequence analysisAdd BLAST | 21 | |
Topological domaini | 139 – 151 | ExtracellularSequence analysisAdd BLAST | 13 | |
Transmembranei | 152 – 172 | Helical; Name=2Sequence analysisAdd BLAST | 21 | |
Topological domaini | 173 – 182 | CytoplasmicSequence analysis | 10 | |
Transmembranei | 183 – 203 | Helical; Name=3Sequence analysisAdd BLAST | 21 | |
Topological domaini | 204 – 222 | ExtracellularSequence analysisAdd BLAST | 19 | |
Transmembranei | 223 – 243 | Helical; Name=4Sequence analysisAdd BLAST | 21 | |
Topological domaini | 244 – 524 | CytoplasmicSequence analysisAdd BLAST | 281 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Neural tube defects (NTD)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionCongenital 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_062322 | 83 | S → L in NTD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs146695372EnsemblClinVar. | 1 | |
Natural variantiVAR_062323 | 153 | F → S in NTD; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_062325 | 181 | R → Q in NTD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs761123443EnsemblClinVar. | 1 | |
Natural variantiVAR_062326 | 202 | L → F in NTD; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_035210 | 274 | R → Q in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3. 1 PublicationCorresponds to variant dbSNP:rs121918219EnsemblClinVar. | 1 | |
Natural variantiVAR_035211 | 328 | M → T in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3. 1 PublicationCorresponds to variant dbSNP:rs121918220EnsemblClinVar. | 1 | |
Natural variantiVAR_062329 | 404 | A → S in NTD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs775571796Ensembl. | 1 |
Sacral defect with anterior meningocele (SDAM)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionForm 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_035209 | 239 | V → I in SDAM; abolishes ability to interact with DVL1, DVL2 and DVL3. 1 PublicationCorresponds to variant dbSNP:rs121918218EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 81839 |
MalaCardsi | VANGL1 |
MIMi | 182940, phenotype 600145, phenotype |
OpenTargetsi | ENSG00000173218 |
Orphaneti | 3027, Caudal regression sequence 268392, Cervical spina bifida aperta 268762, Cervical spina bifida cystica 268397, Cervicothoracic spina bifida aperta 268766, Cervicothoracic spina bifida cystica 268388, Lumbosacral spina bifida aperta 268758, Lumbosacral spina bifida cystica 268384, Thoracolumbosacral spina bifida aperta 268752, Thoracolumbosacral spina bifida cystica 268377, Total spina bifida aperta 268748, Total spina bifida cystica 268740, Upper thoracic spina bifida aperta 268770, Upper thoracic spina bifida cystica |
PharmGKBi | PA37971 |
Miscellaneous databases
Pharosi | Q8TAA9, Tbio |
Genetic variation databases
BioMutai | VANGL1 |
DMDMi | 38258809 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000186193 | 1 – 524 | Vang-like protein 1Add BLAST | 524 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 86 | PhosphoserineBy similarity | 1 | |
Modified residuei | 88 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q8TAA9 |
jPOSTi | Q8TAA9 |
MassIVEi | Q8TAA9 |
MaxQBi | Q8TAA9 |
PaxDbi | Q8TAA9 |
PeptideAtlasi | Q8TAA9 |
PRIDEi | Q8TAA9 |
ProteomicsDBi | 73848 [Q8TAA9-1] 73849 [Q8TAA9-2] |
PTM databases
iPTMneti | Q8TAA9 |
PhosphoSitePlusi | Q8TAA9 |
SwissPalmi | Q8TAA9 |
Expressioni
Tissue specificityi
According to PubMed:11956595, ubiquitously expressed. According to PubMed:12011995, expressed specifically in testis and ovary.2 Publications
Gene expression databases
Bgeei | ENSG00000173218, Expressed in corpus epididymis and 196 other tissues |
ExpressionAtlasi | Q8TAA9, baseline and differential |
Genevisiblei | Q8TAA9, HS |
Organism-specific databases
HPAi | ENSG00000173218, Low tissue specificity |
Interactioni
Subunit structurei
Heterodimer with VANGL2.
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).
By similarityBinary interactionsi
Hide detailsQ8TAA9
With | #Exp. | IntAct |
---|---|---|
CD82 [P27701] | 6 | EBI-682393,EBI-682379 |
CREB3 - isoform 1 [O43889-2] | 3 | EBI-682393,EBI-625022 |
PTPN3 [P26045] | 3 | EBI-682393,EBI-1047946 |
Protein-protein interaction databases
BioGRIDi | 123595, 83 interactors |
CORUMi | Q8TAA9 |
IntActi | Q8TAA9, 43 interactors |
STRINGi | 9606.ENSP00000347672 |
Miscellaneous databases
RNActi | Q8TAA9, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the Vang family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3814, Eukaryota |
GeneTreei | ENSGT00390000012496 |
HOGENOMi | CLU_015742_1_0_1 |
InParanoidi | Q8TAA9 |
OMAi | GFACRRY |
PhylomeDBi | Q8TAA9 |
TreeFami | TF313467 |
Family and domain databases
InterProi | View protein in InterPro IPR009539, VANGL |
PANTHERi | PTHR20886, PTHR20886, 1 hit |
Pfami | View protein in Pfam PF06638, Strabismus, 1 hit |
PIRSFi | PIRSF007991, Strabismus, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q8TAA9-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MDTESTYSGY SYYSSHSKKS HRQGERTRER HKSPRNKDGR GSEKSVTIQP
60 70 80 90 100
PTGEPLLGND STRTEEVQDD NWGETTTAIT GTSEHSISQE DIARISKDME
110 120 130 140 150
DSVGLDCKRY LGLTVASFLG LLVFLTPIAF ILLPPILWRD ELEPCGTICE
160 170 180 190 200
GLFISMAFKL LILLIGTWAL FFRKRRADMP RVFVFRALLL VLIFLFVVSY
210 220 230 240 250
WLFYGVRILD SRDRNYQGIV QYAVSLVDAL LFIHYLAIVL LELRQLQPMF
260 270 280 290 300
TLQVVRSTDG ESRFYSLGHL SIQRAALVVL ENYYKDFTIY NPNLLTASKF
310 320 330 340 350
RAAKHMAGLK VYNVDGPSNN ATGQSRAMIA AAARRRDSSH NELYYEEAEH
360 370 380 390 400
ERRVKKRKAR LVVAVEEAFI HIQRLQAEEQ QKAPGEVMDP REAAQAIFPS
410 420 430 440 450
MARALQKYLR ITRQQNYHSM ESILQHLAFC ITNGMTPKAF LERYLSAGPT
460 470 480 490 500
LQYDKDRWLS TQWRLVSDEA VTNGLRDGIV FVLKCLDFSL VVNVKKIPFI
510 520
ILSEEFIDPK SHKFVLRLQS ETSV
Sequence cautioni
The sequence AAH32773 differs from that shown. Reason: Erroneous initiation.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_062321 | 25 | E → K1 PublicationCorresponds to variant dbSNP:rs61734296Ensembl. | 1 | |
Natural variantiVAR_062322 | 83 | S → L in NTD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs146695372EnsemblClinVar. | 1 | |
Natural variantiVAR_027143 | 116 | A → T1 PublicationCorresponds to variant dbSNP:rs4839469EnsemblClinVar. | 1 | |
Natural variantiVAR_062323 | 153 | F → S in NTD; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_062324 | 175 | R → Q1 PublicationCorresponds to variant dbSNP:rs201441696Ensembl. | 1 | |
Natural variantiVAR_062325 | 181 | R → Q in NTD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs761123443EnsemblClinVar. | 1 | |
Natural variantiVAR_062326 | 202 | L → F in NTD; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_035209 | 239 | V → I in SDAM; abolishes ability to interact with DVL1, DVL2 and DVL3. 1 PublicationCorresponds to variant dbSNP:rs121918218EnsemblClinVar. | 1 | |
Natural variantiVAR_062327 | 251 | T → M1 PublicationCorresponds to variant dbSNP:rs201630629Ensembl. | 1 | |
Natural variantiVAR_035210 | 274 | R → Q in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3. 1 PublicationCorresponds to variant dbSNP:rs121918219EnsemblClinVar. | 1 | |
Natural variantiVAR_062328 | 290 | Y → H1 PublicationCorresponds to variant dbSNP:rs145309218Ensembl. | 1 | |
Natural variantiVAR_035211 | 328 | M → T in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3. 1 PublicationCorresponds to variant dbSNP:rs121918220EnsemblClinVar. | 1 | |
Natural variantiVAR_035435 | 347 | E → A. Corresponds to variant dbSNP:rs34059106EnsemblClinVar. | 1 | |
Natural variantiVAR_062329 | 404 | A → S in NTD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs775571796Ensembl. | 1 | |
Natural variantiVAR_062330 | 468 | D → E1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_008742 | 67 – 68 | Missing in isoform 2. 1 Publication | 2 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB075805 mRNA Translation: BAB86362.1 AB057596 mRNA Translation: BAB86334.1 AF481859 mRNA Translation: AAO61751.1 AL450389 Genomic DNA No translation available. CH471122 Genomic DNA Translation: EAW56630.1 CH471122 Genomic DNA Translation: EAW56631.1 BC032773 mRNA Translation: AAH32773.1 Different initiation. BC065272 mRNA Translation: AAH65272.1 |
CCDSi | CCDS53350.1 [Q8TAA9-2] CCDS883.1 [Q8TAA9-1] |
RefSeqi | NP_001165882.1, NM_001172411.1 [Q8TAA9-2] NP_001165883.1, NM_001172412.1 [Q8TAA9-1] NP_620409.1, NM_138959.2 [Q8TAA9-1] |
Genome annotation databases
Ensembli | ENST00000310260; ENSP00000310800; ENSG00000173218 [Q8TAA9-1] ENST00000355485; ENSP00000347672; ENSG00000173218 [Q8TAA9-1] ENST00000369509; ENSP00000358522; ENSG00000173218 [Q8TAA9-1] ENST00000369510; ENSP00000358523; ENSG00000173218 [Q8TAA9-2] |
GeneIDi | 81839 |
KEGGi | hsa:81839 |
UCSCi | uc001efv.1, human [Q8TAA9-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB075805 mRNA Translation: BAB86362.1 AB057596 mRNA Translation: BAB86334.1 AF481859 mRNA Translation: AAO61751.1 AL450389 Genomic DNA No translation available. CH471122 Genomic DNA Translation: EAW56630.1 CH471122 Genomic DNA Translation: EAW56631.1 BC032773 mRNA Translation: AAH32773.1 Different initiation. BC065272 mRNA Translation: AAH65272.1 |
CCDSi | CCDS53350.1 [Q8TAA9-2] CCDS883.1 [Q8TAA9-1] |
RefSeqi | NP_001165882.1, NM_001172411.1 [Q8TAA9-2] NP_001165883.1, NM_001172412.1 [Q8TAA9-1] NP_620409.1, NM_138959.2 [Q8TAA9-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 123595, 83 interactors |
CORUMi | Q8TAA9 |
IntActi | Q8TAA9, 43 interactors |
STRINGi | 9606.ENSP00000347672 |
Protein family/group databases
TCDBi | 9.B.369.1.1, the van gogh-like protein (vangl) family |
PTM databases
iPTMneti | Q8TAA9 |
PhosphoSitePlusi | Q8TAA9 |
SwissPalmi | Q8TAA9 |
Genetic variation databases
BioMutai | VANGL1 |
DMDMi | 38258809 |
Proteomic databases
EPDi | Q8TAA9 |
jPOSTi | Q8TAA9 |
MassIVEi | Q8TAA9 |
MaxQBi | Q8TAA9 |
PaxDbi | Q8TAA9 |
PeptideAtlasi | Q8TAA9 |
PRIDEi | Q8TAA9 |
ProteomicsDBi | 73848 [Q8TAA9-1] 73849 [Q8TAA9-2] |
Protocols and materials databases
Antibodypediai | 20174, 176 antibodies |
Genome annotation databases
Ensembli | ENST00000310260; ENSP00000310800; ENSG00000173218 [Q8TAA9-1] ENST00000355485; ENSP00000347672; ENSG00000173218 [Q8TAA9-1] ENST00000369509; ENSP00000358522; ENSG00000173218 [Q8TAA9-1] ENST00000369510; ENSP00000358523; ENSG00000173218 [Q8TAA9-2] |
GeneIDi | 81839 |
KEGGi | hsa:81839 |
UCSCi | uc001efv.1, human [Q8TAA9-1] |
Organism-specific databases
CTDi | 81839 |
DisGeNETi | 81839 |
GeneCardsi | VANGL1 |
HGNCi | HGNC:15512, VANGL1 |
HPAi | ENSG00000173218, Low tissue specificity |
MalaCardsi | VANGL1 |
MIMi | 182940, phenotype 600145, phenotype 610132, gene |
neXtProti | NX_Q8TAA9 |
OpenTargetsi | ENSG00000173218 |
Orphaneti | 3027, Caudal regression sequence 268392, Cervical spina bifida aperta 268762, Cervical spina bifida cystica 268397, Cervicothoracic spina bifida aperta 268766, Cervicothoracic spina bifida cystica 268388, Lumbosacral spina bifida aperta 268758, Lumbosacral spina bifida cystica 268384, Thoracolumbosacral spina bifida aperta 268752, Thoracolumbosacral spina bifida cystica 268377, Total spina bifida aperta 268748, Total spina bifida cystica 268740, Upper thoracic spina bifida aperta 268770, Upper thoracic spina bifida cystica |
PharmGKBi | PA37971 |
VEuPathDBi | HostDB:ENSG00000173218.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3814, Eukaryota |
GeneTreei | ENSGT00390000012496 |
HOGENOMi | CLU_015742_1_0_1 |
InParanoidi | Q8TAA9 |
OMAi | GFACRRY |
PhylomeDBi | Q8TAA9 |
TreeFami | TF313467 |
Enzyme and pathway databases
PathwayCommonsi | Q8TAA9 |
Miscellaneous databases
BioGRID-ORCSi | 81839, 8 hits in 874 CRISPR screens |
ChiTaRSi | VANGL1, human |
GenomeRNAii | 81839 |
Pharosi | Q8TAA9, Tbio |
PROi | PR:Q8TAA9 |
RNActi | Q8TAA9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000173218, Expressed in corpus epididymis and 196 other tissues |
ExpressionAtlasi | Q8TAA9, baseline and differential |
Genevisiblei | Q8TAA9, HS |
Family and domain databases
InterProi | View protein in InterPro IPR009539, VANGL |
PANTHERi | PTHR20886, PTHR20886, 1 hit |
Pfami | View protein in Pfam PF06638, Strabismus, 1 hit |
PIRSFi | PIRSF007991, Strabismus, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | VANG1_HUMAN | |
Accessioni | Q8TAA9Primary (citable) accession number: Q8TAA9 Secondary accession number(s): Q5T1D3 Q8N559 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 31, 2003 |
Last sequence update: | June 1, 2002 | |
Last modified: | February 10, 2021 | |
This is version 150 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families