Q8TAA9 · VANG1_HUMAN

  • Protein
    Vang-like protein 1
  • Gene
    VANGL1
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentlateral plasma membrane
Cellular Componentplasma membrane
Biological Processpigmentation
Biological ProcessWnt signaling pathway, planar cell polarity pathway

Enzyme and pathway databases

Protein family/group databases

Names & Taxonomy

Protein names

  • Recommended name
    Vang-like protein 1
  • Alternative names
    • Loop-tail protein 2 homolog (LPP2)
    • Strabismus 2
    • Van Gogh-like protein 1

Gene names

    • Name
      VANGL1
    • Synonyms
      STB2

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    Q8TAA9
  • Secondary accessions
    • Q5T1D3
    • Q5T1D4
    • Q86WG8
    • Q8N559

Proteomes

Organism-specific databases

Subcellular Location

Cell membrane
; Multi-pass membrane protein

Features

Showing features for topological domain, transmembrane.

TypeIDPosition(s)Description
Topological domain1-117Cytoplasmic
Transmembrane118-138Helical; Name=1
Topological domain139-151Extracellular
Transmembrane152-172Helical; Name=2
Topological domain173-182Cytoplasmic
Transmembrane183-203Helical; Name=3
Topological domain204-222Extracellular
Transmembrane223-243Helical; Name=4
Topological domain244-524Cytoplasmic

Keywords

Disease & Variants

Involvement in disease

Neural tube defects (NTD)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    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.
  • See also
    MIM:182940
Natural variants in NTD
Variant IDPosition(s)ChangeDescription
VAR_06232283S>Lin NTD; uncertain significance; dbSNP:rs146695372
VAR_062323153F>Sin NTD; uncertain significance
VAR_062325181R>Qin NTD; uncertain significance; dbSNP:rs761123443
VAR_062326202L>Fin NTD; uncertain significance
VAR_035210274R>Qin NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3; dbSNP:rs121918219
VAR_035211328M>Tin NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3; dbSNP:rs121918220
VAR_062329404A>Sin NTD; uncertain significance; dbSNP:rs775571796

Sacral defect with anterior meningocele (SDAM)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    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.
  • See also
    MIM:600145
Natural variants in SDAM
Variant IDPosition(s)ChangeDescription
VAR_035209239V>Iin SDAM; abolishes ability to interact with DVL1, DVL2 and DVL3; dbSNP:rs121918218

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_06232125in dbSNP:rs61734296
Natural variantVAR_06232283in NTD; uncertain significance; dbSNP:rs146695372
Natural variantVAR_027143116in dbSNP:rs4839469
Natural variantVAR_062323153in NTD; uncertain significance
Natural variantVAR_062324175in dbSNP:rs201441696
Natural variantVAR_062325181in NTD; uncertain significance; dbSNP:rs761123443
Natural variantVAR_062326202in NTD; uncertain significance
Natural variantVAR_035209239in SDAM; abolishes ability to interact with DVL1, DVL2 and DVL3; dbSNP:rs121918218
Natural variantVAR_062327251in dbSNP:rs201630629
Natural variantVAR_035210274in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3; dbSNP:rs121918219
Natural variantVAR_062328290in dbSNP:rs145309218
Natural variantVAR_035211328in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3; dbSNP:rs121918220
Natural variantVAR_035435347in dbSNP:rs34059106
Natural variantVAR_062329404in NTD; uncertain significance; dbSNP:rs775571796
Natural variantVAR_062330468

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 703 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for chain, modified residue (large scale data), modified residue.

TypeIDPosition(s)SourceDescription
ChainPRO_00001861931-524UniProtVang-like protein 1
Modified residue (large scale data)7PRIDEPhosphotyrosine
Modified residue (large scale data)8PRIDEPhosphoserine
Modified residue (large scale data)10PRIDEPhosphotyrosine
Modified residue (large scale data)12PRIDEPhosphotyrosine
Modified residue (large scale data)14PRIDEPhosphoserine
Modified residue (large scale data)15PRIDEPhosphoserine
Modified residue (large scale data)17PRIDEPhosphoserine
Modified residue (large scale data)45PRIDEPhosphoserine
Modified residue (large scale data)47PRIDEPhosphothreonine
Modified residue86UniProtPhosphoserine
Modified residue (large scale data)86PRIDEPhosphoserine
Modified residue88UniProtPhosphoserine
Modified residue (large scale data)88PRIDEPhosphoserine
Modified residue (large scale data)96PRIDEPhosphoserine
Modified residue (large scale data)296PRIDEPhosphothreonine
Modified residue (large scale data)312PRIDEPhosphotyrosine
Modified residue (large scale data)322PRIDEPhosphothreonine
Modified residue (large scale data)325PRIDEPhosphoserine
Modified residue (large scale data)338PRIDEPhosphoserine
Modified residue (large scale data)520PRIDEPhosphoserine
Modified residue (large scale data)523PRIDEPhosphoserine

Keywords

Proteomic databases

PTM databases

Expression

Tissue specificity

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

Gene expression databases

Organism-specific databases

Interaction

Subunit

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).

Binary interactions

TypeEntry 1Entry 2Number of experimentsIntact
BINARY Q8TAA9CD82 P277016EBI-682393, EBI-682379
BINARY Q8TAA9CREB3 O43889-23EBI-682393, EBI-625022
BINARY Q8TAA9PTPN3 P260454EBI-682393, EBI-1047946

Protein-protein interaction databases

Miscellaneous

Structure

Family & Domains

Features

Showing features for compositional bias, region.

TypeIDPosition(s)Description
Compositional bias1-17Polar residues
Region1-85Disordered
Compositional bias18-42Basic and acidic residues
Compositional bias43-62Polar residues
Compositional bias71-85Polar residues

Sequence similarities

Belongs to the Vang family.

Keywords

Phylogenomic databases

Family and domain databases

Sequence & Isoform

Align isoforms (2)
  • Sequence status
    Complete

This entry describes 2 isoforms produced by Alternative splicing.

Q8TAA9-1

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.

  • Length
    524
  • Mass (Da)
    59,975
  • Last updated
    2002-06-01 v1
  • Checksum
    65CB263D26274585
MDTESTYSGYSYYSSHSKKSHRQGERTRERHKSPRNKDGRGSEKSVTIQPPTGEPLLGNDSTRTEEVQDDNWGETTTAITGTSEHSISQEDIARISKDMEDSVGLDCKRYLGLTVASFLGLLVFLTPIAFILLPPILWRDELEPCGTICEGLFISMAFKLLILLIGTWALFFRKRRADMPRVFVFRALLLVLIFLFVVSYWLFYGVRILDSRDRNYQGIVQYAVSLVDALLFIHYLAIVLLELRQLQPMFTLQVVRSTDGESRFYSLGHLSIQRAALVVLENYYKDFTIYNPNLLTASKFRAAKHMAGLKVYNVDGPSNNATGQSRAMIAAAARRRDSSHNELYYEEAEHERRVKKRKARLVVAVEEAFIHIQRLQAEEQQKAPGEVMDPREAAQAIFPSMARALQKYLRITRQQNYHSMESILQHLAFCITNGMTPKAFLERYLSAGPTLQYDKDRWLSTQWRLVSDEAVTNGLRDGIVFVLKCLDFSLVVNVKKIPFIILSEEFIDPKSHKFVLRLQSETSV

Q8TAA9-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Sequence caution

The sequence AAH32773.1 differs from that shown. Reason: Erroneous initiation

Features

Showing features for compositional bias, alternative sequence.

TypeIDPosition(s)Description
Compositional bias1-17Polar residues
Compositional bias18-42Basic and acidic residues
Compositional bias43-62Polar residues
Alternative sequenceVSP_00874267-68in isoform 2
Compositional bias71-85Polar residues

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
AB075805
EMBL· GenBank· DDBJ
BAB86362.1
EMBL· GenBank· DDBJ
mRNA
AB057596
EMBL· GenBank· DDBJ
BAB86334.1
EMBL· GenBank· DDBJ
mRNA
AF481859
EMBL· GenBank· DDBJ
AAO61751.1
EMBL· GenBank· DDBJ
mRNA
AL450389
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
CH471122
EMBL· GenBank· DDBJ
EAW56630.1
EMBL· GenBank· DDBJ
Genomic DNA
CH471122
EMBL· GenBank· DDBJ
EAW56631.1
EMBL· GenBank· DDBJ
Genomic DNA
BC032773
EMBL· GenBank· DDBJ
AAH32773.1
EMBL· GenBank· DDBJ
mRNA Different initiation
BC065272
EMBL· GenBank· DDBJ
AAH65272.1
EMBL· GenBank· DDBJ
mRNA

Genome annotation databases

Similar Proteins

Disclaimer

Any 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. Our staff consists of biologists and biochemists that are not trained to give medical advice.
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