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UniProtKB - Q8TAA9 (VANG1_HUMAN)

Entry version 138 (08 May 2019)
Sequence version 1 (01 Jun 2002)
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Protein

Vang-like protein 1

Gene

VANGL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

  • multicellular organism development Source: InterPro
  • pigmentation Source: Ensembl
  • Wnt signaling pathway, planar cell polarity pathway Source: ParkinsonsUK-UCL
View the complete GO annotation on QuickGO ...

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Vang-like protein 1
Alternative name(s):
Loop-tail protein 2 homolog
Short name:
LPP2
Strabismus 2
Van Gogh-like protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:VANGL1
Synonyms:STB2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:15512 VANGL1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610132 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8TAA9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 117CytoplasmicSequence analysisAdd BLAST117
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei118 – 138Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini139 – 151ExtracellularSequence analysisAdd BLAST13
Transmembranei152 – 172Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini173 – 182CytoplasmicSequence analysis10
Transmembranei183 – 203Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini204 – 222ExtracellularSequence analysisAdd BLAST19
Transmembranei223 – 243Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini244 – 524CytoplasmicSequence analysisAdd BLAST281

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Neural tube defects (NTD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCongenital 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 OMIM:182940
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06232283S → L in NTD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs146695372Ensembl.1
Natural variantiVAR_062323153F → S in NTD; unknown pathological significance. 1 Publication1
Natural variantiVAR_062325181R → Q in NTD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs761123443EnsemblClinVar.1
Natural variantiVAR_062326202L → F in NTD; unknown pathological significance. 1 Publication1
Natural variantiVAR_035210274R → Q in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3. 1 PublicationCorresponds to variant dbSNP:rs121918219EnsemblClinVar.1
Natural variantiVAR_035211328M → T in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3. 1 PublicationCorresponds to variant dbSNP:rs121918220EnsemblClinVar.1
Natural variantiVAR_062329404A → S in NTD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs775571796Ensembl.1
Sacral defect with anterior meningocele (SDAM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionForm 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 OMIM:600145
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035209239V → I in SDAM; abolishes ability to interact with DVL1, DVL2 and DVL3. 1 PublicationCorresponds to variant dbSNP:rs121918218EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		81839

MalaCards human disease database

More...MalaCardsi		VANGL1
MIMi182940 phenotype
600145 phenotype

Open Targets

More...OpenTargetsi		ENSG00000173218

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		3027 Caudal regression sequence
268392 Cervical spina bifida aperta
268762 Cervical spina bifida cystica
268397 Cervicothoracic spina bifida aperta
268766 Cervicothoracic spina bifida cystica
268388 Lumbosacral spina bifida aperta
268758 Lumbosacral spina bifida cystica
268384 Thoracolumbosacral spina bifida aperta
268752 Thoracolumbosacral spina bifida cystica
268377 Total spina bifida aperta
268748 Total spina bifida cystica
268740 Upper thoracic spina bifida aperta
268770 Upper thoracic spina bifida cystica

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA37971

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		VANGL1

Domain mapping of disease mutations (DMDM)

More...DMDMi		38258809

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001861931 – 524Vang-like protein 1Add BLAST524

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei86PhosphoserineBy similarity1
Modified residuei88PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8TAA9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8TAA9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8TAA9

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8TAA9

PeptideAtlas

More...PeptideAtlasi		Q8TAA9

PRoteomics IDEntifications database

More...PRIDEi		Q8TAA9

ProteomicsDB human proteome resource

More...ProteomicsDBi		73848
73849 [Q8TAA9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8TAA9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8TAA9

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q8TAA9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

According to PubMed:11956595, ubiquitously expressed. According to PubMed:12011995, expressed specifically in testis and ovary.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000173218 Expressed in 180 organ(s), highest expression level in corpus epididymis

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8TAA9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8TAA9 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB076375
HPA025235

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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).By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		123595, 57 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q8TAA9

Protein interaction database and analysis system

More...IntActi		Q8TAA9, 22 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000347672

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the Vang family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3814 Eukaryota
ENOG410XPVT LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000012496

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000230590

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8TAA9

KEGG Orthology (KO)

More...KOi		K04510

Identification of Orthologs from Complete Genome Data

More...OMAi		GFACRRY

Database of Orthologous Groups

More...OrthoDBi		1492at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8TAA9

TreeFam database of animal gene trees

More...TreeFami		TF313467

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009539 VANGL

The PANTHER Classification System

More...PANTHERi		PTHR20886 PTHR20886, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF06638 Strabismus, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF007991 Strabismus, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8TAA9-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MDTESTYSGY SYYSSHSKKS HRQGERTRER HKSPRNKDGR GSEKSVTIQP 
        60         70         80         90        100
PTGEPLLGND STRTEEVQDD NWGETTTAIT GTSEHSISQE DIARISKDME 
       110        120        130        140        150
DSVGLDCKRY LGLTVASFLG LLVFLTPIAF ILLPPILWRD ELEPCGTICE 
       160        170        180        190        200
GLFISMAFKL LILLIGTWAL FFRKRRADMP RVFVFRALLL VLIFLFVVSY 
       210        220        230        240        250
WLFYGVRILD SRDRNYQGIV QYAVSLVDAL LFIHYLAIVL LELRQLQPMF 
       260        270        280        290        300
TLQVVRSTDG ESRFYSLGHL SIQRAALVVL ENYYKDFTIY NPNLLTASKF 
       310        320        330        340        350
RAAKHMAGLK VYNVDGPSNN ATGQSRAMIA AAARRRDSSH NELYYEEAEH 
       360        370        380        390        400
ERRVKKRKAR LVVAVEEAFI HIQRLQAEEQ QKAPGEVMDP REAAQAIFPS 
       410        420        430        440        450
MARALQKYLR ITRQQNYHSM ESILQHLAFC ITNGMTPKAF LERYLSAGPT 
       460        470        480        490        500
LQYDKDRWLS TQWRLVSDEA VTNGLRDGIV FVLKCLDFSL VVNVKKIPFI 
       510        520 
ILSEEFIDPK SHKFVLRLQS ETSV
Length:524
Mass (Da):59,975
Last modified:June 1, 2002 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i65CB263D26274585
GO
Isoform 2 (identifier: Q8TAA9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     67-68: Missing.

Note: No experimental confirmation available.
Show »
Length:522
Mass (Da):59,748
Checksum:i8E06DD3BE2003F02
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06232125E → K1 PublicationCorresponds to variant dbSNP:rs61734296Ensembl.1
Natural variantiVAR_06232283S → L in NTD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs146695372Ensembl.1
Natural variantiVAR_027143116A → T1 PublicationCorresponds to variant dbSNP:rs4839469EnsemblClinVar.1
Natural variantiVAR_062323153F → S in NTD; unknown pathological significance. 1 Publication1
Natural variantiVAR_062324175R → Q1 PublicationCorresponds to variant dbSNP:rs201441696Ensembl.1
Natural variantiVAR_062325181R → Q in NTD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs761123443EnsemblClinVar.1
Natural variantiVAR_062326202L → F in NTD; unknown pathological significance. 1 Publication1
Natural variantiVAR_035209239V → I in SDAM; abolishes ability to interact with DVL1, DVL2 and DVL3. 1 PublicationCorresponds to variant dbSNP:rs121918218EnsemblClinVar.1
Natural variantiVAR_062327251T → M1 PublicationCorresponds to variant dbSNP:rs201630629Ensembl.1
Natural variantiVAR_035210274R → Q in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3. 1 PublicationCorresponds to variant dbSNP:rs121918219EnsemblClinVar.1
Natural variantiVAR_062328290Y → H1 PublicationCorresponds to variant dbSNP:rs145309218Ensembl.1
Natural variantiVAR_035211328M → T in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3. 1 PublicationCorresponds to variant dbSNP:rs121918220EnsemblClinVar.1
Natural variantiVAR_035435347E → A. Corresponds to variant dbSNP:rs34059106EnsemblClinVar.1
Natural variantiVAR_062329404A → S in NTD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs775571796Ensembl.1
Natural variantiVAR_062330468D → E1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_00874267 – 68Missing in isoform 2. 1 Publication2

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AB075805 mRNA Translation: BAB86362.1
AB057596 mRNA Translation: BAB86334.1
AF481859 mRNA Translation: AAO61751.1
AL450389 Genomic DNA No translation available.
CH471122 Genomic DNA Translation: EAW56630.1
CH471122 Genomic DNA Translation: EAW56631.1
BC032773 mRNA Translation: AAH32773.1 Different initiation.
BC065272 mRNA Translation: AAH65272.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS53350.1 [Q8TAA9-2]
CCDS883.1 [Q8TAA9-1]

NCBI Reference Sequences

More...RefSeqi		NP_001165882.1, NM_001172411.1 [Q8TAA9-2]
NP_001165883.1, NM_001172412.1 [Q8TAA9-1]
NP_620409.1, NM_138959.2 [Q8TAA9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000310260; ENSP00000310800; ENSG00000173218 [Q8TAA9-1]
ENST00000355485; ENSP00000347672; ENSG00000173218 [Q8TAA9-1]
ENST00000369509; ENSP00000358522; ENSG00000173218 [Q8TAA9-1]
ENST00000369510; ENSP00000358523; ENSG00000173218 [Q8TAA9-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		81839

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:81839

UCSC genome browser

More...UCSCi		uc001efv.1 human [Q8TAA9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB075805 mRNA Translation: BAB86362.1
AB057596 mRNA Translation: BAB86334.1
AF481859 mRNA Translation: AAO61751.1
AL450389 Genomic DNA No translation available.
CH471122 Genomic DNA Translation: EAW56630.1
CH471122 Genomic DNA Translation: EAW56631.1
BC032773 mRNA Translation: AAH32773.1 Different initiation.
BC065272 mRNA Translation: AAH65272.1
CCDSiCCDS53350.1 [Q8TAA9-2]
CCDS883.1 [Q8TAA9-1]
RefSeqiNP_001165882.1, NM_001172411.1 [Q8TAA9-2]
NP_001165883.1, NM_001172412.1 [Q8TAA9-1]
NP_620409.1, NM_138959.2 [Q8TAA9-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGridi123595, 57 interactors
CORUMiQ8TAA9
IntActiQ8TAA9, 22 interactors
STRINGi9606.ENSP00000347672

PTM databases

iPTMnetiQ8TAA9
PhosphoSitePlusiQ8TAA9
SwissPalmiQ8TAA9

Polymorphism and mutation databases

BioMutaiVANGL1
DMDMi38258809

Proteomic databases

EPDiQ8TAA9
jPOSTiQ8TAA9
MaxQBiQ8TAA9
PaxDbiQ8TAA9
PeptideAtlasiQ8TAA9
PRIDEiQ8TAA9
ProteomicsDBi73848
73849 [Q8TAA9-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000310260; ENSP00000310800; ENSG00000173218 [Q8TAA9-1]
ENST00000355485; ENSP00000347672; ENSG00000173218 [Q8TAA9-1]
ENST00000369509; ENSP00000358522; ENSG00000173218 [Q8TAA9-1]
ENST00000369510; ENSP00000358523; ENSG00000173218 [Q8TAA9-2]
GeneIDi81839
KEGGihsa:81839
UCSCiuc001efv.1 human [Q8TAA9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		81839
DisGeNETi81839

GeneCards: human genes, protein and diseases

More...GeneCardsi		VANGL1
HGNCiHGNC:15512 VANGL1
HPAiCAB076375
HPA025235
MalaCardsiVANGL1
MIMi182940 phenotype
600145 phenotype
610132 gene
neXtProtiNX_Q8TAA9
OpenTargetsiENSG00000173218
Orphaneti3027 Caudal regression sequence
268392 Cervical spina bifida aperta
268762 Cervical spina bifida cystica
268397 Cervicothoracic spina bifida aperta
268766 Cervicothoracic spina bifida cystica
268388 Lumbosacral spina bifida aperta
268758 Lumbosacral spina bifida cystica
268384 Thoracolumbosacral spina bifida aperta
268752 Thoracolumbosacral spina bifida cystica
268377 Total spina bifida aperta
268748 Total spina bifida cystica
268740 Upper thoracic spina bifida aperta
268770 Upper thoracic spina bifida cystica
PharmGKBiPA37971

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3814 Eukaryota
ENOG410XPVT LUCA
GeneTreeiENSGT00390000012496
HOGENOMiHOG000230590
InParanoidiQ8TAA9
KOiK04510
OMAiGFACRRY
OrthoDBi1492at2759
PhylomeDBiQ8TAA9
TreeFamiTF313467

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		VANGL1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		81839

Protein Ontology

More...PROi		PR:Q8TAA9

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000173218 Expressed in 180 organ(s), highest expression level in corpus epididymis
ExpressionAtlasiQ8TAA9 baseline and differential
GenevisibleiQ8TAA9 HS

Family and domain databases

InterProiView protein in InterPro
IPR009539 VANGL
PANTHERiPTHR20886 PTHR20886, 1 hit
PfamiView protein in Pfam
PF06638 Strabismus, 1 hit
PIRSFiPIRSF007991 Strabismus, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiVANG1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8TAA9
Secondary accession number(s): Q5T1D3
, Q5T1D4, Q86WG8, Q8N559
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: June 1, 2002
Last modified: May 8, 2019
This is version 138 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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