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Aliases for VANGL1 Gene

Aliases for VANGL1 Gene

  • VANGL Planar Cell Polarity Protein 1 2 3
  • Vang-Like 1 (Van Gogh, Drosophila) 2 3
  • Loop-Tail Protein 2 Homolog 3 4
  • Van Gogh-Like Protein 1 3 4
  • Strabismus 2 3 4
  • STBM2 3 6
  • LPP2 3 4
  • STB2 3 4
  • Vang (Van Gogh, Drosophila)-Like 1, Vang, Van Gogh-Like 1 (Drosophila) 2
  • KAI1 C-Terminal Interacting Tetraspanin 3
  • Vang-Like Protein 1 3
  • KITENIN 3

External Ids for VANGL1 Gene

Summaries for VANGL1 Gene

Entrez Gene Summary for VANGL1 Gene

  • 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]

GeneCards Summary for VANGL1 Gene

VANGL1 (VANGL Planar Cell Polarity Protein 1) is a Protein Coding gene. Diseases associated with VANGL1 include caudal regression syndrome and rudd klimek syndrome. Among its related pathways are Wnt signaling pathway (KEGG). An important paralog of this gene is VANGL2.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VANGL1 Gene

Genomics for VANGL1 Gene

Genomic Location for VANGL1 Gene

Start:
115,641,953 bp from pter
End:
115,698,224 bp from pter
Size:
56,272 bases
Orientation:
Plus strand

Genomic View for VANGL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for VANGL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VANGL1 Gene

Regulatory Elements for VANGL1 Gene

Proteins for VANGL1 Gene

  • Protein details for VANGL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TAA9-VANG1_HUMAN
    Recommended name:
    Vang-like protein 1
    Protein Accession:
    Q8TAA9
    Secondary Accessions:
    • Q5T1D3
    • Q5T1D4
    • Q86WG8
    • Q8N559

    Protein attributes for VANGL1 Gene

    Size:
    524 amino acids
    Molecular mass:
    59975 Da
    Quaternary 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).
    SequenceCaution:
    • Sequence=AAH32773.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for VANGL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VANGL1 Gene

Proteomics data for VANGL1 Gene at MOPED

Post-translational modifications for VANGL1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys299, Lys310, and Lys382

Other Protein References for VANGL1 Gene

No data available for DME Specific Peptides for VANGL1 Gene

Domains for VANGL1 Gene

Protein Domains for VANGL1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for VANGL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TAA9

UniProtKB/Swiss-Prot:

VANG1_HUMAN
Family:
  • Belongs to the Vang family.:
    • Q8TAA9
genes like me logo Genes that share domains with VANGL1: view

No data available for Gene Families for VANGL1 Gene

Function for VANGL1 Gene

Gene Ontology (GO) - Molecular Function for VANGL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15205336
genes like me logo Genes that share ontologies with VANGL1: view
genes like me logo Genes that share phenotypes with VANGL1: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for VANGL1 Gene

Localization for VANGL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VANGL1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VANGL1 Gene COMPARTMENTS Subcellular localization image for VANGL1 gene
Compartment Confidence
plasma membrane 3
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for VANGL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0016328 lateral plasma membrane IEA --
genes like me logo Genes that share ontologies with VANGL1: view

Pathways for VANGL1 Gene

SuperPathways for VANGL1 Gene

Superpath Contained pathways
1 Wnt signaling pathway (KEGG)
genes like me logo Genes that share pathways with VANGL1: view

Pathways by source for VANGL1 Gene

1 KEGG pathway for VANGL1 Gene

Gene Ontology (GO) - Biological Process for VANGL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organismal development IEA --
genes like me logo Genes that share ontologies with VANGL1: view

Transcripts for VANGL1 Gene

Unigene Clusters for VANGL1 Gene

VANGL planar cell polarity protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for VANGL1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: - - -
SP2: - - -
SP3: - -
SP4:
SP5:

Relevant External Links for VANGL1 Gene

GeneLoc Exon Structure for
VANGL1
ECgene alternative splicing isoforms for
VANGL1

Expression for VANGL1 Gene

mRNA expression in normal human tissues for VANGL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for VANGL1 Gene

SOURCE GeneReport for Unigene cluster for VANGL1 Gene Hs.515130

mRNA Expression by UniProt/SwissProt for VANGL1 Gene

Q8TAA9-VANG1_HUMAN
Tissue specificity: According to PubMed:11956595, ubiquitously expressed. According to PubMed:12011995, expressed specifically in testis and ovary.
genes like me logo Genes that share expressions with VANGL1: view

No data available for mRNA differential expression in normal tissues for VANGL1 Gene

Orthologs for VANGL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for VANGL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VANGL1 35
  • 99.49 (n)
  • 99.62 (a)
VANGL1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia VANGL1 35
  • 90.46 (n)
  • 96.18 (a)
VANGL1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VANGL1 35
  • 90.39 (n)
  • 96.56 (a)
VANGL1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vangl1 35
  • 88.74 (n)
  • 95.42 (a)
Vangl1 16
Vangl1 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia VANGL1 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vangl1 35
  • 88.74 (n)
  • 95.61 (a)
chicken
(Gallus gallus)
Aves VANGL1 35
  • 80.59 (n)
  • 88.51 (a)
VANGL1 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VANGL1 36
  • 81 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii vangl1 35
  • 66.54 (n)
  • 66.16 (a)
vangl1 36
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012288 35
  • 53.96 (n)
  • 51.3 (a)
fruit fly
(Drosophila melanogaster)
Insecta Vang 35
  • 53.93 (n)
  • 49 (a)
Vang 36
  • 43 (a)
OneToMany
Vang 37
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea vang-1 35
  • 46.26 (n)
  • 36.65 (a)
vang-1 36
  • 33 (a)
OneToMany
B0410.2b 37
  • 34 (a)
B0410.2a 37
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10649 36
  • 50 (a)
OneToMany
Species with no ortholog for VANGL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for VANGL1 Gene

ENSEMBL:
Gene Tree for VANGL1 (if available)
TreeFam:
Gene Tree for VANGL1 (if available)

Paralogs for VANGL1 Gene

Paralogs for VANGL1 Gene

Selected SIMAP similar genes for VANGL1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with VANGL1: view

Variants for VANGL1 Gene

Sequence variations from dbSNP and Humsavar for VANGL1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1128100 -- 115,695,046(+) AAATG(G/T)CTTTA utr-variant-3-prime
rs1140940 -- 115,692,403(+) TGCCC(G/T)GCCAA utr-variant-3-prime
rs2997739 -- 115,662,223(-) AAAAA(A/C/G)CCATG intron-variant, upstream-variant-2KB
rs2997740 -- 115,690,144(-) tgttt(C/T)tttaa intron-variant
rs2997743 -- 115,647,963(+) TAAGA(C/T)GTAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for VANGL1 Gene

Variant ID Type Subtype PubMed ID
essv18166 CNV CNV 17122850
esv27976 CNV Loss 19812545
nsv2509 CNV Loss 18451855
nsv831115 CNV Gain 17160897
esv994532 CNV Deletion 20482838
dgv69n67 CNV Loss 20364138
esv7661 CNV Loss 19470904
esv2716596 CNV Deletion 23290073
nsv524619 CNV Gain 19592680

Relevant External Links for VANGL1 Gene

HapMap Linkage Disequilibrium report
VANGL1
Human Gene Mutation Database (HGMD)
VANGL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VANGL1 Gene

Disorders for VANGL1 Gene

(2) OMIM Diseases for VANGL1 Gene (610132)

UniProtKB/Swiss-Prot

VANG1_HUMAN
  • 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. {ECO:0000269 PubMed:17409324, ECO:0000269 PubMed:19319979}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:17409324}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for VANGL1 Gene

Relevant External Links for VANGL1

Genetic Association Database (GAD)
VANGL1
Human Genome Epidemiology (HuGE) Navigator
VANGL1
genes like me logo Genes that share disorders with VANGL1: view

Publications for VANGL1 Gene

  1. Molecular cloning and characterization of Strabismus 2 (STB2). (PMID: 11956595) Katoh M. (Int. J. Oncol. 2002) 2 3 4 23
  2. Isolation and characterization of a novel human gene, VANGL1, as a therapeutic target for hepatocellular carcinoma. (PMID: 12011995) Yagyu R. … Nakamura Y. (Int. J. Oncol. 2002) 2 3 4
  3. Novel mutations in VANGL1 in neural tube defects. (PMID: 19319979) Kibar Z. … Gros P. (Hum. Mutat. 2009) 3 4 48
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Analysis of the planar cell polarity gene Vangl2 and its co-expressed paralogue Vangl1 in neural tube defect patients. (PMID: 15952208) Doudney K. … Stanier P. (Am. J. Med. Genet. A 2005) 3 4

Products for VANGL1 Gene

Sources for VANGL1 Gene

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