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Q8TAA9 (VANG1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Vang-like protein 1
Alternative name(s):
Loop-tail protein 2 homolog
Short name=LPP2
Strabismus 2
Van Gogh-like protein 1
Gene names
Name:VANGL1
Synonyms:STB2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length524 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

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.

Subcellular location

Cell membrane; Multi-pass membrane protein By similarity.

Tissue specificity

According to Ref.1, ubiquitously expressed. According to Ref.2, expressed specifically in testis and ovary. Ref.1 Ref.2

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.12

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11

Sequence similarities

Belongs to the Vang family.

Sequence caution

The sequence AAH32773.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   DomainTransmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmulticellular organismal development

Inferred from electronic annotation. Source: InterPro

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

CD82P277016EBI-682393,EBI-682379

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8TAA9-1)

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.
Isoform 2 (identifier: Q8TAA9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     67-68: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 524524Vang-like protein 1
PRO_0000186193

Regions

Topological domain1 – 117117Cytoplasmic Potential
Transmembrane118 – 13821Helical; Name=1; Potential
Topological domain139 – 15113Extracellular Potential
Transmembrane152 – 17221Helical; Name=2; Potential
Topological domain173 – 18210Cytoplasmic Potential
Transmembrane183 – 20321Helical; Name=3; Potential
Topological domain204 – 22219Extracellular Potential
Transmembrane223 – 24321Helical; Name=4; Potential
Topological domain244 – 524281Cytoplasmic Potential

Natural variations

Alternative sequence67 – 682Missing in isoform 2.
VSP_008742
Natural variant251E → K. Ref.12
VAR_062321
Natural variant831S → L in NTD; unknown pathological significance. Ref.12
Corresponds to variant rs146695372 [ dbSNP | Ensembl ].
VAR_062322
Natural variant1161A → T. Ref.10
Corresponds to variant rs4839469 [ dbSNP | Ensembl ].
VAR_027143
Natural variant1531F → S in NTD; unknown pathological significance. Ref.12
VAR_062323
Natural variant1751R → Q. Ref.12
Corresponds to variant rs201441696 [ dbSNP | Ensembl ].
VAR_062324
Natural variant1811R → Q in NTD; unknown pathological significance. Ref.12
VAR_062325
Natural variant2021L → F in NTD; unknown pathological significance. Ref.12
VAR_062326
Natural variant2391V → I in SDAM; abolishes ability to interact with DVL1, DVL2 and DVL3. Ref.11
VAR_035209
Natural variant2511T → M. Ref.12
VAR_062327
Natural variant2741R → Q in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3. Ref.11
VAR_035210
Natural variant2901Y → H. Ref.12
VAR_062328
Natural variant3281M → T in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3. Ref.11
VAR_035211
Natural variant3471E → A.
Corresponds to variant rs34059106 [ dbSNP | Ensembl ].
VAR_035435
Natural variant4041A → S in NTD; unknown pathological significance. Ref.12
VAR_062329
Natural variant4681D → E. Ref.12
VAR_062330

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 2002. Version 1.
Checksum: 65CB263D26274585

FASTA52459,975
        10         20         30         40         50         60 
MDTESTYSGY SYYSSHSKKS HRQGERTRER HKSPRNKDGR GSEKSVTIQP PTGEPLLGND 

        70         80         90        100        110        120 
STRTEEVQDD NWGETTTAIT GTSEHSISQE DIARISKDME DSVGLDCKRY LGLTVASFLG 

       130        140        150        160        170        180 
LLVFLTPIAF ILLPPILWRD ELEPCGTICE GLFISMAFKL LILLIGTWAL FFRKRRADMP 

       190        200        210        220        230        240 
RVFVFRALLL VLIFLFVVSY WLFYGVRILD SRDRNYQGIV QYAVSLVDAL LFIHYLAIVL 

       250        260        270        280        290        300 
LELRQLQPMF TLQVVRSTDG ESRFYSLGHL SIQRAALVVL ENYYKDFTIY NPNLLTASKF 

       310        320        330        340        350        360 
RAAKHMAGLK VYNVDGPSNN ATGQSRAMIA AAARRRDSSH NELYYEEAEH ERRVKKRKAR 

       370        380        390        400        410        420 
LVVAVEEAFI HIQRLQAEEQ QKAPGEVMDP REAAQAIFPS MARALQKYLR ITRQQNYHSM 

       430        440        450        460        470        480 
ESILQHLAFC ITNGMTPKAF LERYLSAGPT LQYDKDRWLS TQWRLVSDEA VTNGLRDGIV 

       490        500        510        520 
FVLKCLDFSL VVNVKKIPFI ILSEEFIDPK SHKFVLRLQS ETSV 

« Hide

Isoform 2 [UniParc].

Checksum: 8E06DD3BE2003F02
Show »

FASTA52259,748

References

« Hide 'large scale' references
[1]"Molecular cloning and characterization of Strabismus 2 (STB2)."
Katoh M.
Int. J. Oncol. 20:993-998(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[2]"Isolation and characterization of a novel human gene, VANGL1, as a therapeutic target for hepatocellular carcinoma."
Yagyu R., Hamamoto R., Furukawa Y., Okabe H., Yamamura T., Nakamura Y.
Int. J. Oncol. 20:1173-1178(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[3]"Identification of LPP2, a second Vang-like protein."
Doudney K., Paternotte C., Murdoch J.N., Copp A.J., Stanier P.
Submitted (FEB-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[4]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Prostate and Skin.
[7]"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[10]"Analysis of the planar cell polarity gene Vangl2 and its co-expressed paralogue Vangl1 in neural tube defect patients."
Doudney K., Ybot-Gonzalez P., Paternotte C., Stevenson R.E., Greene N.D., Moore G.E., Copp A.J., Stanier P.
Am. J. Med. Genet. A 136:90-92(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT THR-116.
[11]"Mutations in VANGL1 associated with neural-tube defects."
Kibar Z., Torban E., McDearmid J.R., Reynolds A., Berghout J., Mathieu M., Kirillova I., De Marco P., Merello E., Hayes J.M., Wallingford J.B., Drapeau P., Capra V., Gros P.
N. Engl. J. Med. 356:1432-1437(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SDAM ILE-239, VARIANTS NTD GLN-274 AND THR-328, CHARACTERIZATION OF VARIANT SDAM ILE-239, CHARACTERIZATION OF VARIANTS NTD GLN-274 AND THR-328.
[12]"Novel mutations in VANGL1 in neural tube defects."
Kibar Z., Bosoi C.M., Kooistra M., Salem S., Finnell R.H., De Marco P., Merello E., Bassuk A.G., Capra V., Gros P.
Hum. Mutat. 30:E706-E715(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NTD LEU-83; SER-153; GLN-181; PHE-202 AND SER-404, VARIANTS LYS-25; GLN-175; MET-251; HIS-290 AND GLU-468.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001165882.1. NM_001172411.1.
NP_001165883.1. NM_001172412.1.
NP_620409.1. NM_138959.2.
UniGeneHs.515130.

3D structure databases

ProteinModelPortalQ8TAA9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123595. 8 interactions.
IntActQ8TAA9. 10 interactions.
STRING9606.ENSP00000310800.

PTM databases

PhosphoSiteQ8TAA9.

Polymorphism databases

DMDM38258809.

Proteomic databases

PaxDbQ8TAA9.
PRIDEQ8TAA9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000310260; ENSP00000310800; ENSG00000173218. [Q8TAA9-1]
ENST00000355485; ENSP00000347672; ENSG00000173218. [Q8TAA9-1]
ENST00000369509; ENSP00000358522; ENSG00000173218. [Q8TAA9-1]
ENST00000369510; ENSP00000358523; ENSG00000173218. [Q8TAA9-2]
GeneID81839.
KEGGhsa:81839.
UCSCuc001efv.1. human. [Q8TAA9-1]
uc009wgy.1. human. [Q8TAA9-2]

Organism-specific databases

CTD81839.
GeneCardsGC01P116184.
HGNCHGNC:15512. VANGL1.
HPAHPA025235.
MIM182940. phenotype.
600145. phenotype.
610132. gene.
neXtProtNX_Q8TAA9.
Orphanet3027. 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.
PharmGKBPA37971.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG268286.
HOGENOMHOG000230590.
HOVERGENHBG058215.
InParanoidQ8TAA9.
KOK04510.
OMAKSRAAKH.
OrthoDBEOG7MSMNR.
PhylomeDBQ8TAA9.
TreeFamTF313467.

Gene expression databases

BgeeQ8TAA9.
CleanExHS_VANGL1.
GenevestigatorQ8TAA9.

Family and domain databases

InterProIPR009539. Strabismus.
[Graphical view]
PANTHERPTHR20886. PTHR20886. 1 hit.
PfamPF06638. Strabismus. 1 hit.
[Graphical view]
PIRSFPIRSF007991. Strabismus. 1 hit.
ProtoNetSearch...

Other

ChiTaRSVANGL1. human.
GenomeRNAi81839.
NextBio72138.
PROQ8TAA9.
SOURCESearch...

Entry information

Entry nameVANG1_HUMAN
AccessionPrimary (citable) accession number: Q8TAA9
Secondary accession number(s): Q5T1D3 expand/collapse secondary AC list , Q5T1D4, Q86WG8, Q8N559
Entry history
Integrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: June 1, 2002
Last modified: April 16, 2014
This is version 95 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM