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Protein

Vang-like protein 1

Gene

VANGL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000173218-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Vang-like protein 1
Alternative name(s):
Loop-tail protein 2 homolog
Short name:
LPP2
Strabismus 2
Van Gogh-like protein 1
Gene namesi
Name:VANGL1
Synonyms:STB2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:15512. VANGL1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 117CytoplasmicSequence analysisAdd BLAST117
Transmembranei118 – 138Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini139 – 151ExtracellularSequence analysisAdd BLAST13
Transmembranei152 – 172Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini173 – 182CytoplasmicSequence analysis10
Transmembranei183 – 203Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini204 – 222ExtracellularSequence analysisAdd BLAST19
Transmembranei223 – 243Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini244 – 524CytoplasmicSequence analysisAdd BLAST281

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Neural tube defects (NTD)2 Publications
The disease is caused by mutations 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.
See also OMIM:182940
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06232283S → L in NTD; unknown pathological significance. 1 PublicationCorresponds to variant rs146695372dbSNPEnsembl.1
Natural variantiVAR_062323153F → S in NTD; unknown pathological significance. 1 Publication1
Natural variantiVAR_062325181R → Q in NTD; unknown pathological significance. 1 PublicationCorresponds to variant rs761123443dbSNPEnsembl.1
Natural variantiVAR_062326202L → F in NTD; unknown pathological significance. 1 Publication1
Natural variantiVAR_035210274R → Q in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3. 1 PublicationCorresponds to variant rs121918219dbSNPEnsembl.1
Natural variantiVAR_035211328M → T in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3. 1 PublicationCorresponds to variant rs121918220dbSNPEnsembl.1
Natural variantiVAR_062329404A → S in NTD; unknown pathological significance. 1 PublicationCorresponds to variant rs775571796dbSNPEnsembl.1
Sacral defect with anterior meningocele (SDAM)1 Publication
The disease is caused by mutations 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.
See also OMIM:600145
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035209239V → I in SDAM; abolishes ability to interact with DVL1, DVL2 and DVL3. 1 PublicationCorresponds to variant rs121918218dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi81839.
MalaCardsiVANGL1.
MIMi182940. phenotype.
600145. phenotype.
OpenTargetsiENSG00000173218.
Orphaneti3027. Caudal regression sequence.
268392. Cervical spina bifida aperta.
268762. Cervical spina bifida cystica.
268397. Cervicothoracic spina bifida aperta.
268766. Cervicothoracic spina bifida cystica.
1768. Familial caudal dysgenesis.
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.
PharmGKBiPA37971.

Polymorphism and mutation databases

BioMutaiVANGL1.
DMDMi38258809.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001861931 – 524Vang-like protein 1Add BLAST524

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei86PhosphoserineBy similarity1
Modified residuei88PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8TAA9.
MaxQBiQ8TAA9.
PaxDbiQ8TAA9.
PeptideAtlasiQ8TAA9.
PRIDEiQ8TAA9.

PTM databases

iPTMnetiQ8TAA9.
PhosphoSitePlusiQ8TAA9.
SwissPalmiQ8TAA9.

Expressioni

Tissue specificityi

According to PubMed:11956595, ubiquitously expressed. According to PubMed:12011995, expressed specifically in testis and ovary.2 Publications

Gene expression databases

BgeeiENSG00000173218.
CleanExiHS_VANGL1.
ExpressionAtlasiQ8TAA9. baseline and differential.
GenevisibleiQ8TAA9. HS.

Organism-specific databases

HPAiCAB076375.
HPA025235.

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 similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
CD82P277016EBI-682393,EBI-682379

Protein-protein interaction databases

BioGridi123595. 35 interactors.
IntActiQ8TAA9. 15 interactors.
STRINGi9606.ENSP00000310800.

Structurei

3D structure databases

ProteinModelPortaliQ8TAA9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the Vang family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3814. Eukaryota.
ENOG410XPVT. LUCA.
GeneTreeiENSGT00390000012496.
HOGENOMiHOG000230590.
HOVERGENiHBG058215.
InParanoidiQ8TAA9.
KOiK04510.
OMAiRIHEYTS.
OrthoDBiEOG091G056W.
PhylomeDBiQ8TAA9.
TreeFamiTF313467.

Family and domain databases

InterProiIPR009539. VANGL.
[Graphical view]
PANTHERiPTHR20886. PTHR20886. 1 hit.
PfamiPF06638. Strabismus. 1 hit.
[Graphical view]
PIRSFiPIRSF007991. Strabismus. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8TAA9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:524
Mass (Da):59,975
Last modified:June 1, 2002 - v1
Checksum:i65CB263D26274585
GO
Isoform 2 (identifier: Q8TAA9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     67-68: Missing.

Note: No experimental confirmation available.
Show »
Length:522
Mass (Da):59,748
Checksum:i8E06DD3BE2003F02
GO

Sequence cautioni

The sequence AAH32773 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06232125E → K.1 PublicationCorresponds to variant rs61734296dbSNPEnsembl.1
Natural variantiVAR_06232283S → L in NTD; unknown pathological significance. 1 PublicationCorresponds to variant rs146695372dbSNPEnsembl.1
Natural variantiVAR_027143116A → T.1 PublicationCorresponds to variant rs4839469dbSNPEnsembl.1
Natural variantiVAR_062323153F → S in NTD; unknown pathological significance. 1 Publication1
Natural variantiVAR_062324175R → Q.1 PublicationCorresponds to variant rs201441696dbSNPEnsembl.1
Natural variantiVAR_062325181R → Q in NTD; unknown pathological significance. 1 PublicationCorresponds to variant rs761123443dbSNPEnsembl.1
Natural variantiVAR_062326202L → F in NTD; unknown pathological significance. 1 Publication1
Natural variantiVAR_035209239V → I in SDAM; abolishes ability to interact with DVL1, DVL2 and DVL3. 1 PublicationCorresponds to variant rs121918218dbSNPEnsembl.1
Natural variantiVAR_062327251T → M.1 PublicationCorresponds to variant rs201630629dbSNPEnsembl.1
Natural variantiVAR_035210274R → Q in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3. 1 PublicationCorresponds to variant rs121918219dbSNPEnsembl.1
Natural variantiVAR_062328290Y → H.1 PublicationCorresponds to variant rs145309218dbSNPEnsembl.1
Natural variantiVAR_035211328M → T in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3. 1 PublicationCorresponds to variant rs121918220dbSNPEnsembl.1
Natural variantiVAR_035435347E → A.Corresponds to variant rs34059106dbSNPEnsembl.1
Natural variantiVAR_062329404A → S in NTD; unknown pathological significance. 1 PublicationCorresponds to variant rs775571796dbSNPEnsembl.1
Natural variantiVAR_062330468D → E.1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00874267 – 68Missing in isoform 2. 1 Publication2

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. Translation: CAI23371.1.
AL450389 Genomic DNA. Translation: CAI23372.1.
CH471122 Genomic DNA. Translation: EAW56630.1.
CH471122 Genomic DNA. Translation: EAW56631.1.
BC032773 mRNA. Translation: AAH32773.1. Different initiation.
BC065272 mRNA. Translation: AAH65272.1.
CCDSiCCDS53350.1. [Q8TAA9-2]
CCDS883.1. [Q8TAA9-1]
RefSeqiNP_001165882.1. NM_001172411.1. [Q8TAA9-2]
NP_001165883.1. NM_001172412.1. [Q8TAA9-1]
NP_620409.1. NM_138959.2. [Q8TAA9-1]
UniGeneiHs.515130.

Genome annotation databases

EnsembliENST00000310260; ENSP00000310800; ENSG00000173218. [Q8TAA9-1]
ENST00000355485; ENSP00000347672; ENSG00000173218. [Q8TAA9-1]
ENST00000369509; ENSP00000358522; ENSG00000173218. [Q8TAA9-1]
ENST00000369510; ENSP00000358523; ENSG00000173218. [Q8TAA9-2]
GeneIDi81839.
KEGGihsa:81839.
UCSCiuc001efv.1. human. [Q8TAA9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. Translation: CAI23371.1.
AL450389 Genomic DNA. Translation: CAI23372.1.
CH471122 Genomic DNA. Translation: EAW56630.1.
CH471122 Genomic DNA. Translation: EAW56631.1.
BC032773 mRNA. Translation: AAH32773.1. Different initiation.
BC065272 mRNA. Translation: AAH65272.1.
CCDSiCCDS53350.1. [Q8TAA9-2]
CCDS883.1. [Q8TAA9-1]
RefSeqiNP_001165882.1. NM_001172411.1. [Q8TAA9-2]
NP_001165883.1. NM_001172412.1. [Q8TAA9-1]
NP_620409.1. NM_138959.2. [Q8TAA9-1]
UniGeneiHs.515130.

3D structure databases

ProteinModelPortaliQ8TAA9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123595. 35 interactors.
IntActiQ8TAA9. 15 interactors.
STRINGi9606.ENSP00000310800.

PTM databases

iPTMnetiQ8TAA9.
PhosphoSitePlusiQ8TAA9.
SwissPalmiQ8TAA9.

Polymorphism and mutation databases

BioMutaiVANGL1.
DMDMi38258809.

Proteomic databases

EPDiQ8TAA9.
MaxQBiQ8TAA9.
PaxDbiQ8TAA9.
PeptideAtlasiQ8TAA9.
PRIDEiQ8TAA9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000310260; ENSP00000310800; ENSG00000173218. [Q8TAA9-1]
ENST00000355485; ENSP00000347672; ENSG00000173218. [Q8TAA9-1]
ENST00000369509; ENSP00000358522; ENSG00000173218. [Q8TAA9-1]
ENST00000369510; ENSP00000358523; ENSG00000173218. [Q8TAA9-2]
GeneIDi81839.
KEGGihsa:81839.
UCSCiuc001efv.1. human. [Q8TAA9-1]

Organism-specific databases

CTDi81839.
DisGeNETi81839.
GeneCardsiVANGL1.
HGNCiHGNC:15512. VANGL1.
HPAiCAB076375.
HPA025235.
MalaCardsiVANGL1.
MIMi182940. phenotype.
600145. phenotype.
610132. gene.
neXtProtiNX_Q8TAA9.
OpenTargetsiENSG00000173218.
Orphaneti3027. Caudal regression sequence.
268392. Cervical spina bifida aperta.
268762. Cervical spina bifida cystica.
268397. Cervicothoracic spina bifida aperta.
268766. Cervicothoracic spina bifida cystica.
1768. Familial caudal dysgenesis.
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.
PharmGKBiPA37971.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3814. Eukaryota.
ENOG410XPVT. LUCA.
GeneTreeiENSGT00390000012496.
HOGENOMiHOG000230590.
HOVERGENiHBG058215.
InParanoidiQ8TAA9.
KOiK04510.
OMAiRIHEYTS.
OrthoDBiEOG091G056W.
PhylomeDBiQ8TAA9.
TreeFamiTF313467.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000173218-MONOMER.

Miscellaneous databases

ChiTaRSiVANGL1. human.
GenomeRNAii81839.
PROiQ8TAA9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000173218.
CleanExiHS_VANGL1.
ExpressionAtlasiQ8TAA9. baseline and differential.
GenevisibleiQ8TAA9. HS.

Family and domain databases

InterProiIPR009539. VANGL.
[Graphical view]
PANTHERiPTHR20886. PTHR20886. 1 hit.
PfamiPF06638. Strabismus. 1 hit.
[Graphical view]
PIRSFiPIRSF007991. Strabismus. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiVANG1_HUMAN
AccessioniPrimary (citable) accession number: Q8TAA9
Secondary accession number(s): Q5T1D3
, Q5T1D4, Q86WG8, Q8N559
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: June 1, 2002
Last modified: November 2, 2016
This is version 120 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.