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    VANGL1 VANGL planar cell polarity protein 1 [ Homo sapiens (human) ]

    Gene ID: 81839, updated on 26-Jun-2015
    Official Symbol
    VANGL1provided by HGNC
    Official Full Name
    VANGL planar cell polarity protein 1provided by HGNC
    Primary source
    HGNC:HGNC:15512
    See related
    Ensembl:ENSG00000173218; HPRD:18279; MIM:610132; Vega:OTTHUMG00000011971
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LPP2; STB2; STBM2; KITENIN
    Summary
    This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
    Orthologs
    See VANGL1 in Epigenomics, MapViewer
    Location:
    1p13.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (115641953..115698224)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (116184574..116240845)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tetraspanin 12 pseudogene Neighboring gene CCR4-NOT transcription complex, subunit 7 pseudogene 2 Neighboring gene calsequestrin 2 (cardiac muscle) Neighboring gene nescient helix loop helix 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Wnt signaling pathway, organism-specific biosystem (from KEGG)
      Wnt signaling pathway, organism-specific biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
    • Wnt signaling pathway, conserved biosystem (from KEGG)
      Wnt signaling pathway, conserved biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC5338

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    multicellular organismal development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    vang-like protein 1
    Names
    vang-like protein 1
    KAI1 C-terminal interacting tetraspanin
    loop-tail protein 2 homolog
    strabismus 2
    van Gogh-like protein 1
    vang-like 1 (van gogh, Drosophila)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016548.1 RefSeqGene

      Range
      5001..61272
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001172411.1NP_001165882.1  vang-like protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001165882.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AF481859, AL450389, BM146608
      Consensus CDS
      CCDS53350.1
      UniProtKB/Swiss-Prot
      Q8TAA9
      Related
      ENSP00000358523, OTTHUMP00000013750, ENST00000369510, OTTHUMT00000033094
      Conserved Domains (1) summary
      pfam06638
      Location:23522
      Strabismus; Strabismus protein
    2. NM_001172412.1NP_001165883.1  vang-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001165883.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AB057596, AL450389
      Consensus CDS
      CCDS883.1
      UniProtKB/TrEMBL
      A0A024R0E3
      UniProtKB/Swiss-Prot
      Q8TAA9
      Conserved Domains (1) summary
      pfam06638
      Location:23524
      Strabismus; Strabismus protein
    3. NM_138959.2NP_620409.1  vang-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_620409.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AB075805, AL450389, BM552933
      Consensus CDS
      CCDS883.1
      UniProtKB/TrEMBL
      A0A024R0E3
      UniProtKB/Swiss-Prot
      Q8TAA9
      Related
      ENSP00000347672, ENST00000355485
      Conserved Domains (1) summary
      pfam06638
      Location:23524
      Strabismus; Strabismus protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

      Range
      115641953..115698224
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      116299390..116355642
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)