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

Gene ID: 81839, updated on 12-May-2019

Summary

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 MIM:610132
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]
Expression
Ubiquitous expression in esophagus (RPKM 4.2), thyroid (RPKM 3.8) and 25 other tissues See more
Orthologs

Genomic context

See VANGL1 in Genome Data Viewer
Location:
1p13.1
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 RNA, 7SL, cytoplasmic 420, pseudogene Neighboring gene calsequestrin 2 Neighboring gene nescient helix-loop-helix 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
Wnt signaling pathway, planar cell polarity pathway NAS
Non-traceable Author Statement
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
pigmentation 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
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
vang-like protein 1
Names
KAI1 C-terminal interacting tetraspanin
loop-tail protein 2 homolog
strabismus 2
van Gogh-like protein 1
vang-like 1 (van gogh, Drosophila)

NCBI Reference Sequences (RefSeq)

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
    ENSP00000358523.3, ENST00000369510.8
    Conserved Domains (1) summary
    pfam06638
    Location:26522
    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/Swiss-Prot
    Q8TAA9
    UniProtKB/TrEMBL
    A0A024R0E3
    Related
    ENSP00000310800.3, ENST00000310260.7
    Conserved Domains (1) summary
    pfam06638
    Location:25524
    Strabismus; Strabismus protein
  3. NM_138959.3NP_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/Swiss-Prot
    Q8TAA9
    UniProtKB/TrEMBL
    A0A024R0E3
    Related
    ENSP00000347672.2, ENST00000355485.7
    Conserved Domains (1) summary
    pfam06638
    Location:25524
    Strabismus; Strabismus protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

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