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Aliases for VANGL1 Gene

Aliases for VANGL1 Gene

  • VANGL Planar Cell Polarity Protein 1 2 3 5
  • 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
  • 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
  • KITENIN 3
  • STBM2 3

External Ids for VANGL1 Gene

Previous GeneCards Identifiers for VANGL1 Gene

  • GC01P116607
  • GC01P115067
  • GC01P115332
  • GC01P115531
  • GC01P115896
  • GC01P115986
  • GC01P116184
  • GC01P114043

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 neural tube defects. 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

Regulatory Elements for VANGL1 Gene

Promoters for VANGL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around VANGL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for VANGL1 Gene

Chromosome:
1
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

Genes around VANGL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VANGL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VANGL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Ubiquitination at Lys 299, Lys 310, and Lys 382
  • Modification sites at PhosphoSitePlus

Other Protein References for VANGL1 Gene

Antibody Products

  • R&D Systems Antibodies for VANGL1 (Vang-like Protein 1/VANGL1)
  • Cell Signaling Technology (CST) Antibodies for VANGL1 (VANGL1)

No data available for DME Specific Peptides for VANGL1 Gene

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

No data available for Gene Families for VANGL1 Gene

Function for VANGL1 Gene

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

Human Phenotype Ontology for VANGL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for VANGL1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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 5
cytoskeleton 2
nucleus 2
endoplasmic reticulum 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 --
genes like me logo Genes that share ontologies with VANGL1: view

Pathways & Interactions 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:0060071 Wnt signaling pathway, planar cell polarity pathway NAS 24431302
genes like me logo Genes that share ontologies with VANGL1: view

No data available for SIGNOR curated interactions for VANGL1 Gene

Drugs & Compounds for VANGL1 Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for VANGL1 Gene

This gene is overexpressed in Lung (55.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with VANGL1: view

Protein tissue co-expression partners for VANGL1 Gene

Primer Products

In Situ Assay Products

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 36
  • 100 (a)
OneToOne
VANGL1 35
  • 99.49 (n)
  • 99.62 (a)
cow
(Bos Taurus)
Mammalia VANGL1 35
  • 90.46 (n)
  • 96.18 (a)
VANGL1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VANGL1 36
  • 97 (a)
OneToOne
VANGL1 35
  • 90.39 (n)
  • 96.56 (a)
mouse
(Mus musculus)
Mammalia Vangl1 16
Vangl1 36
  • 95 (a)
OneToOne
Vangl1 35
  • 88.74 (n)
  • 95.42 (a)
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 36
  • 43 (a)
OneToMany
Vang 35
  • 53.93 (n)
  • 49 (a)
Vang 37
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea vang-1 36
  • 33 (a)
OneToMany
B0410.2a 37
  • 34 (a)
B0410.2b 37
  • 34 (a)
vang-1 35
  • 46.26 (n)
  • 36.65 (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

(1) 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
rs4839469 - 115,663,802(+) CCGTC(A/C/G)CCTCT reference, missense
VAR_035209 Sacral defect with anterior meningocele (SDAM)
VAR_035210 Neural tube defects (NTD)
VAR_035211 Neural tube defects (NTD)
rs34059106 - 115,684,037(+) TGAAG(A/C)GGCCG reference, missense

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

Variation tolerance for VANGL1 Gene

Residual Variation Intolerance Score: 17.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.14; 75.69% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(22) MalaCards diseases for VANGL1 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
caudal regression syndrome
  • caudal dysplasia
neural tube defects
  • spina bifida
vangl1-related neural tube defect
  • spina bifida
strabismus
meningocele
  • meningocele [ambiguous]
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for VANGL1

Genetic Association Database (GAD)
VANGL1
Human Genome Epidemiology (HuGE) Navigator
VANGL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VANGL1
genes like me logo Genes that share disorders with VANGL1: view

No data available for Genatlas for VANGL1 Gene

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 67
  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
  3. Substrate trapping proteomics reveals targets of the I^TrCP2/FBXW11 ubiquitin ligase. (PMID: 25332235) Kim T.Y. … Major M.B. (Mol. Cell. Biol. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Identifying biological pathways that underlie primordial short stature using network analysis. (PMID: 24711643) Hanson D. … Clayton P.E. (J. Mol. Endocrinol. 2014) 3

Products for VANGL1 Gene

Sources for VANGL1 Gene

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