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UniProtKB - Q8TAA9 (VANG1_HUMAN)

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Protein

Vang-like protein 1

Gene

VANGL1

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

Functioni

GO - Biological processi

View the complete GO annotation on QuickGO ...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000173218.14
HGNCiHGNC:15512 VANGL1
MIMi610132 gene
neXtProtiNX_Q8TAA9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

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 dbSNP:rs146695372Ensembl.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 dbSNP:rs761123443EnsemblClinVar.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 dbSNP:rs121918219EnsemblClinVar.1
Natural variantiVAR_035211328M → T in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3. 1 PublicationCorresponds to variant dbSNP:rs121918220EnsemblClinVar.1
Natural variantiVAR_062329404A → 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 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 dbSNP:rs121918218EnsemblClinVar.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
ProteomicsDBi73848
73849 [Q8TAA9-2]

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

Show more details

Protein-protein interaction databases

BioGridi123595, 55 interactors
CORUMiQ8TAA9
IntActiQ8TAA9, 21 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
OMAiIVFVLKC
OrthoDBiEOG091G056W
PhylomeDBiQ8TAA9
TreeFamiTF313467

Family and domain databases

InterProiView protein in InterPro
IPR009539 VANGL
PANTHERiPTHR20886 PTHR20886, 1 hit
PfamiView protein in Pfam
PF06638 Strabismus, 1 hit
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 → K1 PublicationCorresponds to variant dbSNP:rs61734296Ensembl.1
Natural variantiVAR_06232283S → L in NTD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs146695372Ensembl.1
Natural variantiVAR_027143116A → T1 PublicationCorresponds to variant dbSNP:rs4839469EnsemblClinVar.1
Natural variantiVAR_062323153F → S in NTD; unknown pathological significance. 1 Publication1
Natural variantiVAR_062324175R → Q1 PublicationCorresponds to variant dbSNP:rs201441696Ensembl.1
Natural variantiVAR_062325181R → Q in NTD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs761123443EnsemblClinVar.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 dbSNP:rs121918218EnsemblClinVar.1
Natural variantiVAR_062327251T → M1 PublicationCorresponds to variant dbSNP:rs201630629Ensembl.1
Natural variantiVAR_035210274R → Q in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3. 1 PublicationCorresponds to variant dbSNP:rs121918219EnsemblClinVar.1
Natural variantiVAR_062328290Y → H1 PublicationCorresponds to variant dbSNP:rs145309218Ensembl.1
Natural variantiVAR_035211328M → T in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3. 1 PublicationCorresponds to variant dbSNP:rs121918220EnsemblClinVar.1
Natural variantiVAR_035435347E → A. Corresponds to variant dbSNP:rs34059106EnsemblClinVar.1
Natural variantiVAR_062329404A → S in NTD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs775571796Ensembl.1
Natural variantiVAR_062330468D → E1 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 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
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

Similar proteinsi

Entry informationi

Entry nameiVANG1_HUMAN
AccessioniPrimary (citable) accession number: Q8TAA9
Secondary accession number(s): Q5T1D3
, Q5T1D4, Q86WG8, Q8N559
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: June 1, 2002
Last modified: July 18, 2018
This is version 131 of the entry and version 1 of the sequence. See 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

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