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Entry version 159 (02 Jun 2021)
Sequence version 1 (01 Dec 2001)
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Protein

Protocadherin-16

Gene

DCHS1

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

Calcium-dependent cell-adhesion protein. Mediates functions in neuroprogenitor cell proliferation and differentiation. In the heart, has a critical role for proper morphogenesis of the mitral valve, acting in the regulation of cell migration involved in valve formation (PubMed:26258302).

1 Publication

<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 - Molecular functioni

GO - Biological processi

<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>Keywordsi

Biological processCell adhesion
LigandCalcium

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q96JQ0

<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%5Fand%5Ftaxonomy%5Fsection">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:
Protocadherin-16
Alternative name(s):
Cadherin-19
Cadherin-25
Fibroblast cadherin-1
Protein dachsous homolog 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:DCHS1
Synonyms:CDH19, CDH25, FIB1, KIAA1773, PCDH16
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:13681, DCHS1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603057, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96JQ0

Eukaryotic Pathogen, Vector and Host Database Resources

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VEuPathDBi
HostDB:ENSG00000166341.7

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 domaini43 – 2940ExtracellularSequence analysisAdd BLAST2898
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei2941 – 2961HelicalSequence analysisAdd BLAST21
Topological domaini2962 – 3298CytoplasmicSequence analysisAdd BLAST337

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

Van Maldergem syndrome 1 (VMLDS1)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia.
Related information in OMIM
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_0709282370N → I in VMLDS1. 1 PublicationCorresponds to variant dbSNP:rs483352919EnsemblClinVar.1
Mitral valve prolapse 2 (MVP2)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of mitral valve prolapse, a valvular hearth disease characterized by abnormally elongated and thickened mitral valve leaflets, that typically show myxomatous degeneration with increased leaflet compliance. It is associated with mitral regurgitation. Myxomatous mitral valves have an abnormal layered architecture characterized by loose collagen in fibrosa, expanded spongiosa strongly positive for proteoglycans, and disrupted elastin in atrialis. In classic mitral valve prolapse, leaflets are at least 5 mm thick, whereas in the non-classic form, they are less than 5 mm thick. Severe classic mitral valve prolapse is strongly associated with arrhythmias, endocarditis, heart failure, and need for valve surgery.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0750492330R → C in MVP2; loss-of-function mutation; results in reduced protein levels; results in increased protein degradation. 1 PublicationCorresponds to variant dbSNP:rs768737101EnsemblClinVar.1
Natural variantiVAR_0750502513R → H in MVP2; the patient also carries L-197; loss-of-function mutation; results in reduced protein levels; results in increased protein degradation. 1 PublicationCorresponds to variant dbSNP:rs201457110EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease variant, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
8642

MalaCards human disease database

More...
MalaCardsi
DCHS1
MIMi601390, phenotype
607829, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000166341

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

More...
Orphaneti
314679, Cerebrofacioarticular syndrome
741, Familial mitral valve prolapse

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33000

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96JQ0, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
DCHS1

Domain mapping of disease mutations (DMDM)

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DMDMi
20139065

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 42Sequence analysisAdd BLAST42
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000400043 – 3298Protocadherin-16Add BLAST3256

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi217N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi256N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi402N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi584N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1249N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1521N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1718N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1996N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2361N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2428N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2569N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2761N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2792N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2862N-linked (GlcNAc...) asparagineSequence analysis1
<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 residuei3055PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96JQ0

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q96JQ0

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

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PaxDbi
Q96JQ0

PeptideAtlas

More...
PeptideAtlasi
Q96JQ0

PRoteomics IDEntifications database

More...
PRIDEi
Q96JQ0

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
77003

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

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GlyGeni
Q96JQ0, 14 sites

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q96JQ0

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

More...
PhosphoSitePlusi
Q96JQ0

<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

Expressed in fibroblasts but not in melanocytes or keratinocytes.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000166341, Expressed in stomach and 229 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96JQ0, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000166341, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterophilic interaction with FAT4; this interaction affects their respective protein levels.

By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
114194, 6 interactors

Protein interaction database and analysis system

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IntActi
Q96JQ0, 6 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000299441

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q96JQ0, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q96JQ0

Database of comparative protein structure models

More...
ModBasei
Search...

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini43 – 143Cadherin 1PROSITE-ProRule annotationAdd BLAST101
Domaini144 – 255Cadherin 2PROSITE-ProRule annotationAdd BLAST112
Domaini256 – 362Cadherin 3PROSITE-ProRule annotationAdd BLAST107
Domaini367 – 472Cadherin 4PROSITE-ProRule annotationAdd BLAST106
Domaini474 – 578Cadherin 5PROSITE-ProRule annotationAdd BLAST105
Domaini579 – 685Cadherin 6PROSITE-ProRule annotationAdd BLAST107
Domaini686 – 790Cadherin 7PROSITE-ProRule annotationAdd BLAST105
Domaini791 – 894Cadherin 8PROSITE-ProRule annotationAdd BLAST104
Domaini895 – 1000Cadherin 9PROSITE-ProRule annotationAdd BLAST106
Domaini1001 – 1111Cadherin 10PROSITE-ProRule annotationAdd BLAST111
Domaini1112 – 1211Cadherin 11PROSITE-ProRule annotationAdd BLAST100
Domaini1218 – 1324Cadherin 12PROSITE-ProRule annotationAdd BLAST107
Domaini1333 – 1436Cadherin 13PROSITE-ProRule annotationAdd BLAST104
Domaini1437 – 1546Cadherin 14PROSITE-ProRule annotationAdd BLAST110
Domaini1547 – 1649Cadherin 15PROSITE-ProRule annotationAdd BLAST103
Domaini1650 – 1751Cadherin 16PROSITE-ProRule annotationAdd BLAST102
Domaini1752 – 1855Cadherin 17PROSITE-ProRule annotationAdd BLAST104
Domaini1856 – 1960Cadherin 18PROSITE-ProRule annotationAdd BLAST105
Domaini1965 – 2068Cadherin 19PROSITE-ProRule annotationAdd BLAST104
Domaini2069 – 2171Cadherin 20PROSITE-ProRule annotationAdd BLAST103
Domaini2172 – 2277Cadherin 21PROSITE-ProRule annotationAdd BLAST106
Domaini2278 – 2376Cadherin 22PROSITE-ProRule annotationAdd BLAST99
Domaini2377 – 2482Cadherin 23PROSITE-ProRule annotationAdd BLAST106
Domaini2483 – 2602Cadherin 24PROSITE-ProRule annotationAdd BLAST120
Domaini2603 – 2706Cadherin 25PROSITE-ProRule annotationAdd BLAST104
Domaini2707 – 2813Cadherin 26PROSITE-ProRule annotationAdd BLAST107
Domaini2814 – 2933Cadherin 27PROSITE-ProRule annotationAdd BLAST120

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni2065 – 2094DisorderedSequence analysisAdd BLAST30
Regioni2986 – 3040DisorderedSequence analysisAdd BLAST55
Regioni3062 – 3082DisorderedSequence analysisAdd BLAST21
Regioni3233 – 3298DisorderedSequence analysisAdd BLAST66

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi3239 – 3262Polar residuesSequence analysisAdd BLAST24

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3594, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000161822

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_000265_2_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96JQ0

Identification of Orthologs from Complete Genome Data

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OMAi
TGHIRLM

Database of Orthologous Groups

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OrthoDBi
34489at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q96JQ0

TreeFam database of animal gene trees

More...
TreeFami
TF316403

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR039808, Cadherin
IPR002126, Cadherin-like_dom
IPR015919, Cadherin-like_sf
IPR020894, Cadherin_CS

The PANTHER Classification System

More...
PANTHERi
PTHR24027, PTHR24027, 8 hits

Pfam protein domain database

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Pfami
View protein in Pfam
PF00028, Cadherin, 23 hits

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00205, CADHERIN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00112, CA, 27 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49313, SSF49313, 27 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00232, CADHERIN_1, 18 hits
PS50268, CADHERIN_2, 27 hits

<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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

Q96JQ0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MQKELGIVPS CPGMKSPRPH LLLPLLLLLL LLLGAGVPGA WGQAGSLDLQ
60 70 80 90 100
IDEEQPAGTL IGDISAGLPA GTAAPLMYFI SAQEGSGVGT DLAIDEHSGV
110 120 130 140 150
VRTARVLDRE QRDRYRFTAV TPDGATVEVT VRVADINDHA PAFPQARAAL
160 170 180 190 200
QVPEHTAFGT RYPLEPARDA DAGRLGTQGY ALSGDGAGET FRLETRPGPD
210 220 230 240 250
GTPVPELVVT GELDRENRSH YMLQLEAYDG GSPPRRAQAL LDVTLLDIND
260 270 280 290 300
HAPAFNQSRY HAVVSESLAP GSPVLQVFAS DADAGVNGAV TYEINRRQSE
310 320 330 340 350
GDGPFSIDAH TGLLQLERPL DFEQRRVHEL VVQARDGGAH PELGSAFVTV
360 370 380 390 400
HVRDANDNQP SMTVIFLSAD GSPQVSEAAP PGQLVARISV SDPDDGDFAH
410 420 430 440 450
VNVSLEGGEG HFALSTQDSV IYLVCVARRL DREERDAYNL RVTATDSGSP
460 470 480 490 500
PLRAEAAFVL HVTDVNDNAP AFDRQLYRPE PLPEVALPGS FVVRVTARDP
510 520 530 540 550
DQGTNGQVTY SLAPGAHTHW FSIDPTSGII TTAASLDYEL EPQPQLIVVA
560 570 580 590 600
TDGGLPPLAS SATVSVALQD VNDNEPQFQR TFYNASLPEG TQPGTCFLQV
610 620 630 640 650
TATDADSGPF GLLSYSLGAG LGSSGSPPFR IDAHSGDVCT TRTLDRDQGP
660 670 680 690 700
SSFDFTVTAV DGGGLKSMVY VKVFLSDEND NPPQFYPREY AASISAQSPP
710 720 730 740 750
GTAVLRLRAH DPDQGSHGRL SYHILAGNSP PLFTLDEQSG LLTVAWPLAR
760 770 780 790 800
RANSVVQLEI GAEDGGGLQA EPSARVDISI VPGTPTPPIF EQLQYVFSVP
810 820 830 840 850
EDVAPGTSVG IVQAHNPPGR LAPVTLSLSG GDPRGLFSLD AVSGLLQTLR
860 870 880 890 900
PLDRELLGPV LELEVRAGSG VPPAFAVARV RVLLDDVNDN SPAFPAPEDT
910 920 930 940 950
VLLPPNTAPG TPIYTLRALD PDSGVNSRVT FTLLAGGGGA FTVDPTTGHV
960 970 980 990 1000
RLMRPLGPSG GPAHELELEA RDGGSPPRTS HFRLRVVVQD VGTRGLAPRF
1010 1020 1030 1040 1050
NSPTYRVDLP SGTTAGTQVL QVQAQAPDGG PITYHLAAEG ASSPFGLEPQ
1060 1070 1080 1090 1100
SGWLWVRAAL DREAQELYIL KVMAVSGSKA ELGQQTGTAT VRVSILNQNE
1110 1120 1130 1140 1150
HSPRLSEDPT FLAVAENQPP GTSVGRVFAT DRDSGPNGRL TYSLQQLSED
1160 1170 1180 1190 1200
SKAFRIHPQT GEVTTLQTLD REQQSSYQLL VQVQDGGSPP RSTTGTVHVA
1210 1220 1230 1240 1250
VLDLNDNSPT FLQASGAAGG GLPIQVPDRV PPGTLVTTLQ AKDPDEGENG
1260 1270 1280 1290 1300
TILYTLTGPG SELFSLHPHS GELLTAAPLI RAERPHYVLT LSAHDQGSPP
1310 1320 1330 1340 1350
RSASLQLLVQ VLPSARLAEP PPDLAERDPA APVPVVLTVT AAEGLRPGSL
1360 1370 1380 1390 1400
LGSVAAPEPA GVGALTYTLV GGADPEGTFA LDAASGRLYL ARPLDFEAGP
1410 1420 1430 1440 1450
PWRALTVRAE GPGGAGARLL RVQVQVQDEN EHAPAFARDP LALALPENPE
1460 1470 1480 1490 1500
PGAALYTFRA SDADGPGPNS DVRYRLLRQE PPVPALRLDA RTGALSAPRG
1510 1520 1530 1540 1550
LDRETTPALL LLVEATDRPA NASRRRAARV SARVFVTDEN DNAPVFASPS
1560 1570 1580 1590 1600
RVRLPEDQPP GPAALHVVAR DPDLGEAARV SYRLASGGDG HFRLHSSTGA
1610 1620 1630 1640 1650
LSVVRPLDRE QRAEHVLTVV ASDHGSPPRS ATQVLTVSVA DVNDEAPTFQ
1660 1670 1680 1690 1700
QQEYSVLLRE NNPPGTSLLT LRATDPDVGA NGQVTYGGVS SESFSLDPDT
1710 1720 1730 1740 1750
GVLTTLRALD REEQEEINLT VYAQDRGSPP QLTHVTVRVA VEDENDHAPT
1760 1770 1780 1790 1800
FGSAHLSLEV PEGQDPQTLT MLRASDPDVG ANGQLQYRIL DGDPSGAFVL
1810 1820 1830 1840 1850
DLASGEFGTM RPLDREVEPA FQLRIEARDG GQPALSATLL LTVTVLDAND
1860 1870 1880 1890 1900
HAPAFPVPAY SVEVPEDVPA GTLLLQLQAH DPDAGANGHV TYYLGAGTAG
1910 1920 1930 1940 1950
AFLLEPSSGE LRTAAALDRE QCPSYTFSVS AVDGAAAGPL STTVSVTITV
1960 1970 1980 1990 2000
RDVNDHAPTF PTSPLRLRLP RPGPSFSTPT LALATLRAED RDAGANASIL
2010 2020 2030 2040 2050
YRLAGTPPPG TTVDSYTGEI RVARSPVALG PRDRVLFIVA TDLGRPARSA
2060 2070 2080 2090 2100
TGVIIVGLQG EAERGPRFPR ASSEATIREN APPGTPIVSP RAVHAGGTNG
2110 2120 2130 2140 2150
PITYSILSGN EKGTFSIQPS TGAITVRSAE GLDFEVSPRL RLVLQAESGG
2160 2170 2180 2190 2200
AFAFTVLTLT LQDANDNAPR FLRPHYVAFL PESRPLEGPL LQVEADDLDQ
2210 2220 2230 2240 2250
GSGGQISYSL AASQPARGLF HVDPTTGTIT TTAILDREIW AETRLVLMAT
2260 2270 2280 2290 2300
DRGSPALVGS ATLTVMVIDT NDNRPTIPQP WELRVSEDAL LGSEIAQVTG
2310 2320 2330 2340 2350
NDVDSGPVLW YVLSPSGPQD PFSVGRYGGR VSLTGPLDFE QCDRYQLQLL
2360 2370 2380 2390 2400
AHDGPHEGRA NLTVLVEDVN DNAPAFSQSL YQVMLLEHTP PGSAILSVSA
2410 2420 2430 2440 2450
TDRDSGANGH ISYHLASPAD GFSVDPNNGT LFTIVGTVAL GHDGSGAVDV
2460 2470 2480 2490 2500
VLEARDHGAP GRAARATVHV QLQDQNDHAP SFTLSHYRVA VTEDLPPGST
2510 2520 2530 2540 2550
LLTLEATDAD GSRSHAAVDY SIISGNWGRV FQLEPRLAEA GESAGPGPRA
2560 2570 2580 2590 2600
LGCLVLLEPL DFESLTQYNL TVAAADRGQP PQSSVVPVTV TVLDVNDNPP
2610 2620 2630 2640 2650
VFTRASYRVT VPEDTPVGAE LLHVEASDAD PGPHGLVRFT VSSGDPSGLF
2660 2670 2680 2690 2700
ELDESSGTLR LAHALDCETQ ARHQLVVQAA DPAGAHFALA PVTIEVQDVN
2710 2720 2730 2740 2750
DHGPAFPLNL LSTSVAENQP PGTLVTTLHA IDGDAGAFGR LRYSLLEAGP
2760 2770 2780 2790 2800
GPEGREAFAL NSSTGELRAR VPFDYEHTES FRLLVGAADA GNLSASVTVS
2810 2820 2830 2840 2850
VLVTGEDEYD PVFLAPAFHF QVPEGARRGH SLGHVQATDE DGGADGLVLY
2860 2870 2880 2890 2900
SLATSSPYFG INQTTGALYL RVDSRAPGSG TATSGGGGRT RREAPRELRL
2910 2920 2930 2940 2950
EVIARGPLPG SRSATVPVTV DITHTALGLA PDLNLLLVGA VAASLGVVVV
2960 2970 2980 2990 3000
LALAALVLGL VRARSRKAEA APGPMSQAAP LASDSLQKLG REPPSPPPSE
3010 3020 3030 3040 3050
HLYHQTLPSY GGPGAGGPYP RGGSLDPSHS SGRGSAEAAE DDEIRMINEF
3060 3070 3080 3090 3100
PRVASVASSL AARGPDSGIQ QDADGLSDTS CEPPAPDTWY KGRKAGLLLP
3110 3120 3130 3140 3150
GAGATLYREE GPPATATAFL GGCGLSPAPT GDYGFPADGK PCVAGALTAI
3160 3170 3180 3190 3200
VAGEEELRGS YNWDYLLSWC PQFQPLASVF TEIARLKDEA RPCPPAPRID
3210 3220 3230 3240 3250
PPPLITAVAH PGAKSVPPKP ANTAAARAIF PPASHRSPIS HEGSLSSAAM
3260 3270 3280 3290
SPSFSPSLSP LAARSPVVSP FGVAQGPSAS ALSAESGLEP PDDTELHI
Length:3,298
Mass (Da):346,181
Last modified:December 1, 2001 - 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:i6EE8D28BEF0795DB
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 BAB61903 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075048197P → L Found in a MVP2 patient also carrying pathogenic mutation H-2513; has no significant effect on protein levels. 1 PublicationCorresponds to variant dbSNP:rs145099391Ensembl.1
Natural variantiVAR_0361101583R → W in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs148882462Ensembl.1
Natural variantiVAR_0485771949T → M. Corresponds to variant dbSNP:rs4758443EnsemblClinVar.1
Natural variantiVAR_0610742172L → Q. Corresponds to variant dbSNP:rs56920123EnsemblClinVar.1
Natural variantiVAR_0750492330R → C in MVP2; loss-of-function mutation; results in reduced protein levels; results in increased protein degradation. 1 PublicationCorresponds to variant dbSNP:rs768737101EnsemblClinVar.1
Natural variantiVAR_0485782331V → I. Corresponds to variant dbSNP:rs7924553Ensembl.1
Natural variantiVAR_0485792359R → C. Corresponds to variant dbSNP:rs2659875EnsemblClinVar.1
Natural variantiVAR_0709282370N → I in VMLDS1. 1 PublicationCorresponds to variant dbSNP:rs483352919EnsemblClinVar.1
Natural variantiVAR_0750502513R → H in MVP2; the patient also carries L-197; loss-of-function mutation; results in reduced protein levels; results in increased protein degradation. 1 PublicationCorresponds to variant dbSNP:rs201457110EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB053446 mRNA Translation: BAB61903.2 Different initiation.
AB000895 mRNA Translation: BAA21133.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS7771.1

Protein sequence database of the Protein Information Resource

More...
PIRi
PC4297

NCBI Reference Sequences

More...
RefSeqi
NP_003728.1, NM_003737.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000299441; ENSP00000299441; ENSG00000166341

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
8642

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:8642

UCSC genome browser

More...
UCSCi
uc001mem.3, human

<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
AB053446 mRNA Translation: BAB61903.2 Different initiation.
AB000895 mRNA Translation: BAA21133.1
CCDSiCCDS7771.1
PIRiPC4297
RefSeqiNP_003728.1, NM_003737.3

3D structure databases

SMRiQ96JQ0
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi114194, 6 interactors
IntActiQ96JQ0, 6 interactors
STRINGi9606.ENSP00000299441

PTM databases

GlyGeniQ96JQ0, 14 sites
iPTMnetiQ96JQ0
PhosphoSitePlusiQ96JQ0

Genetic variation databases

BioMutaiDCHS1
DMDMi20139065

Proteomic databases

jPOSTiQ96JQ0
MassIVEiQ96JQ0
PaxDbiQ96JQ0
PeptideAtlasiQ96JQ0
PRIDEiQ96JQ0
ProteomicsDBi77003

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
64000, 66 antibodies

The DNASU plasmid repository

More...
DNASUi
8642

Genome annotation databases

EnsembliENST00000299441; ENSP00000299441; ENSG00000166341
GeneIDi8642
KEGGihsa:8642
UCSCiuc001mem.3, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
8642
DisGeNETi8642

GeneCards: human genes, protein and diseases

More...
GeneCardsi
DCHS1
HGNCiHGNC:13681, DCHS1
HPAiENSG00000166341, Low tissue specificity
MalaCardsiDCHS1
MIMi601390, phenotype
603057, gene
607829, phenotype
neXtProtiNX_Q96JQ0
OpenTargetsiENSG00000166341
Orphaneti314679, Cerebrofacioarticular syndrome
741, Familial mitral valve prolapse
PharmGKBiPA33000
VEuPathDBiHostDB:ENSG00000166341.7

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3594, Eukaryota
GeneTreeiENSGT00940000161822
HOGENOMiCLU_000265_2_0_1
InParanoidiQ96JQ0
OMAiTGHIRLM
OrthoDBi34489at2759
PhylomeDBiQ96JQ0
TreeFamiTF316403

Enzyme and pathway databases

PathwayCommonsiQ96JQ0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
8642, 6 hits in 990 CRISPR screens

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

More...
ChiTaRSi
DCHS1, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
DCHS1

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

More...
GenomeRNAii
8642
PharosiQ96JQ0, Tbio

Protein Ontology

More...
PROi
PR:Q96JQ0
RNActiQ96JQ0, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000166341, Expressed in stomach and 229 other tissues
GenevisibleiQ96JQ0, HS

Family and domain databases

InterProiView protein in InterPro
IPR039808, Cadherin
IPR002126, Cadherin-like_dom
IPR015919, Cadherin-like_sf
IPR020894, Cadherin_CS
PANTHERiPTHR24027, PTHR24027, 8 hits
PfamiView protein in Pfam
PF00028, Cadherin, 23 hits
PRINTSiPR00205, CADHERIN
SMARTiView protein in SMART
SM00112, CA, 27 hits
SUPFAMiSSF49313, SSF49313, 27 hits
PROSITEiView protein in PROSITE
PS00232, CADHERIN_1, 18 hits
PS50268, CADHERIN_2, 27 hits

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiPCD16_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: Q96JQ0
Secondary accession number(s): O15098
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: December 1, 2001
Last modified: June 2, 2021
This is version 159 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

Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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