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Q8TAA9

- VANG1_HUMAN

UniProt

Q8TAA9 - VANG1_HUMAN

Protein

Vang-like protein 1

Gene

VANGL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 1 (01 Jun 2002)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. multicellular organismal development Source: InterPro

    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
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:15512. VANGL1.

    Subcellular locationi

    Cell membrane By similarity; Multi-pass membrane protein By similarity

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti83 – 831S → L in NTD; unknown pathological significance. 1 Publication
    Corresponds to variant rs146695372 [ dbSNP | Ensembl ].
    VAR_062322
    Natural varianti153 – 1531F → S in NTD; unknown pathological significance. 1 Publication
    VAR_062323
    Natural varianti181 – 1811R → Q in NTD; unknown pathological significance. 1 Publication
    VAR_062325
    Natural varianti202 – 2021L → F in NTD; unknown pathological significance. 1 Publication
    VAR_062326
    Natural varianti274 – 2741R → Q in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3. 1 Publication
    VAR_035210
    Natural varianti328 – 3281M → T in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3. 1 Publication
    VAR_035211
    Natural varianti404 – 4041A → S in NTD; unknown pathological significance. 1 Publication
    VAR_062329
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti239 – 2391V → I in SDAM; abolishes ability to interact with DVL1, DVL2 and DVL3. 1 Publication
    VAR_035209

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi182940. phenotype.
    600145. phenotype.
    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.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 524524Vang-like protein 1PRO_0000186193Add
    BLAST

    Proteomic databases

    MaxQBiQ8TAA9.
    PaxDbiQ8TAA9.
    PRIDEiQ8TAA9.

    PTM databases

    PhosphoSiteiQ8TAA9.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    BgeeiQ8TAA9.
    CleanExiHS_VANGL1.
    GenevestigatoriQ8TAA9.

    Organism-specific databases

    HPAiHPA025235.

    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. 8 interactions.
    IntActiQ8TAA9. 10 interactions.
    STRINGi9606.ENSP00000310800.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TAA9.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 117117CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini139 – 15113ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini173 – 18210CytoplasmicSequence Analysis
    Topological domaini204 – 22219ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini244 – 524281CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei118 – 13821Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei152 – 17221Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei183 – 20321Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei223 – 24321Helical; Name=4Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the Vang family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG268286.
    HOGENOMiHOG000230590.
    HOVERGENiHBG058215.
    InParanoidiQ8TAA9.
    KOiK04510.
    OMAiKSRAAKH.
    OrthoDBiEOG7MSMNR.
    PhylomeDBiQ8TAA9.
    TreeFamiTF313467.

    Family and domain databases

    InterProiIPR009539. Strabismus.
    [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. Align

    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

    MDTESTYSGY SYYSSHSKKS HRQGERTRER HKSPRNKDGR GSEKSVTIQP    50
    PTGEPLLGND STRTEEVQDD NWGETTTAIT GTSEHSISQE DIARISKDME 100
    DSVGLDCKRY LGLTVASFLG LLVFLTPIAF ILLPPILWRD ELEPCGTICE 150
    GLFISMAFKL LILLIGTWAL FFRKRRADMP RVFVFRALLL VLIFLFVVSY 200
    WLFYGVRILD SRDRNYQGIV QYAVSLVDAL LFIHYLAIVL LELRQLQPMF 250
    TLQVVRSTDG ESRFYSLGHL SIQRAALVVL ENYYKDFTIY NPNLLTASKF 300
    RAAKHMAGLK VYNVDGPSNN ATGQSRAMIA AAARRRDSSH NELYYEEAEH 350
    ERRVKKRKAR LVVAVEEAFI HIQRLQAEEQ QKAPGEVMDP REAAQAIFPS 400
    MARALQKYLR ITRQQNYHSM ESILQHLAFC ITNGMTPKAF LERYLSAGPT 450
    LQYDKDRWLS TQWRLVSDEA VTNGLRDGIV FVLKCLDFSL VVNVKKIPFI 500
    ILSEEFIDPK SHKFVLRLQS ETSV 524
    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 AAH32773.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti25 – 251E → K.1 Publication
    VAR_062321
    Natural varianti83 – 831S → L in NTD; unknown pathological significance. 1 Publication
    Corresponds to variant rs146695372 [ dbSNP | Ensembl ].
    VAR_062322
    Natural varianti116 – 1161A → T.1 Publication
    Corresponds to variant rs4839469 [ dbSNP | Ensembl ].
    VAR_027143
    Natural varianti153 – 1531F → S in NTD; unknown pathological significance. 1 Publication
    VAR_062323
    Natural varianti175 – 1751R → Q.1 Publication
    Corresponds to variant rs201441696 [ dbSNP | Ensembl ].
    VAR_062324
    Natural varianti181 – 1811R → Q in NTD; unknown pathological significance. 1 Publication
    VAR_062325
    Natural varianti202 – 2021L → F in NTD; unknown pathological significance. 1 Publication
    VAR_062326
    Natural varianti239 – 2391V → I in SDAM; abolishes ability to interact with DVL1, DVL2 and DVL3. 1 Publication
    VAR_035209
    Natural varianti251 – 2511T → M.1 Publication
    VAR_062327
    Natural varianti274 – 2741R → Q in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3. 1 Publication
    VAR_035210
    Natural varianti290 – 2901Y → H.1 Publication
    VAR_062328
    Natural varianti328 – 3281M → T in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3. 1 Publication
    VAR_035211
    Natural varianti347 – 3471E → A.
    Corresponds to variant rs34059106 [ dbSNP | Ensembl ].
    VAR_035435
    Natural varianti404 – 4041A → S in NTD; unknown pathological significance. 1 Publication
    VAR_062329
    Natural varianti468 – 4681D → E.1 Publication
    VAR_062330

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei67 – 682Missing in isoform 2. 1 PublicationVSP_008742

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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]
    XP_006710998.1. XM_006710935.1. [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]
    uc009wgy.1. human. [Q8TAA9-2]

    Polymorphism databases

    DMDMi38258809.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    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 ]
    XP_006710998.1. XM_006710935.1. [Q8TAA9-1 ]
    UniGenei Hs.515130.

    3D structure databases

    ProteinModelPortali Q8TAA9.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123595. 8 interactions.
    IntActi Q8TAA9. 10 interactions.
    STRINGi 9606.ENSP00000310800.

    PTM databases

    PhosphoSitei Q8TAA9.

    Polymorphism databases

    DMDMi 38258809.

    Proteomic databases

    MaxQBi Q8TAA9.
    PaxDbi Q8TAA9.
    PRIDEi Q8TAA9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    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 ]
    uc009wgy.1. human. [Q8TAA9-2 ]

    Organism-specific databases

    CTDi 81839.
    GeneCardsi GC01P116184.
    HGNCi HGNC:15512. VANGL1.
    HPAi HPA025235.
    MIMi 182940. phenotype.
    600145. phenotype.
    610132. gene.
    neXtProti NX_Q8TAA9.
    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.
    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.
    PharmGKBi PA37971.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG268286.
    HOGENOMi HOG000230590.
    HOVERGENi HBG058215.
    InParanoidi Q8TAA9.
    KOi K04510.
    OMAi KSRAAKH.
    OrthoDBi EOG7MSMNR.
    PhylomeDBi Q8TAA9.
    TreeFami TF313467.

    Miscellaneous databases

    ChiTaRSi VANGL1. human.
    GenomeRNAii 81839.
    NextBioi 72138.
    PROi Q8TAA9.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8TAA9.
    CleanExi HS_VANGL1.
    Genevestigatori Q8TAA9.

    Family and domain databases

    InterProi IPR009539. Strabismus.
    [Graphical view ]
    PANTHERi PTHR20886. PTHR20886. 1 hit.
    Pfami PF06638. Strabismus. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF007991. Strabismus. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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.
      , 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. 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. 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. 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. 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.

    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: October 1, 2014
    This is version 99 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

    External Data

    Dasty 3