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DCHS1 dachsous cadherin-related 1 [ Homo sapiens (human) ]

Gene ID: 8642, updated on 4-May-2020

Summary

Official Symbol
DCHS1provided by HGNC
Official Full Name
dachsous cadherin-related 1provided by HGNC
Primary source
HGNC:HGNC:13681
See related
Ensembl:ENSG00000166341 MIM:603057
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FIB1; MVP2; CDH19; CDH25; CDHR6; PCDH16; VMLDS1
Summary
This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family member is expressed in fibroblasts but not in melanocytes or keratinocytes. The cell-cell adhesion of fibroblasts is thought to be necessary for wound healing. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in endometrium (RPKM 15.0), placenta (RPKM 6.8) and 22 other tissues See more
Orthologs

Genomic context

See DCHS1 in Genome Data Viewer
Location:
11p15.4
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (6621330..6655809, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (6642556..6685320, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 730 Neighboring gene integrin linked kinase Neighboring gene TATA-box binding protein associated factor 10 Neighboring gene tripeptidyl peptidase 1 Neighboring gene mitochondrial ribosomal protein L17 Neighboring gene ribosomal protein L21 pseudogene 94

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mitral valve prolapse 2
MedGen: C1843003 OMIM: 607829 GeneReviews: Not available
Compare labs
Van Maldergem syndrome 1
MedGen: C4551950 OMIM: 601390 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2018-08-31)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2018-08-31)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11790, KIAA1773

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
branching involved in ureteric bud morphogenesis IEA
Inferred from Electronic Annotation
more info
 
calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules NAS
Non-traceable Author Statement
more info
PubMed 
cell migration involved in endocardial cushion formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell-cell adhesion via plasma-membrane adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cochlea development IEA
Inferred from Electronic Annotation
more info
 
condensed mesenchymal cell proliferation IEA
Inferred from Electronic Annotation
more info
 
digestive tract development IEA
Inferred from Electronic Annotation
more info
 
heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
 
hippo signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
 
mitral valve formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
neural tube development IEA
Inferred from Electronic Annotation
more info
 
neurogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
ossification involved in bone maturation IEA
Inferred from Electronic Annotation
more info
 
pattern specification process IEA
Inferred from Electronic Annotation
more info
 
post-anal tail morphogenesis IEA
Inferred from Electronic Annotation
more info
 
protein localization to plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical part of cell IEA
Inferred from Electronic Annotation
more info
 
catenin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protocadherin-16
Names
cadherin-19
cadherin-25
cadherin-related family member 6
fibroblast cadherin 1
fibroblast cadherin FIB1
protein dachsous homolog 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033858.2 RefSeqGene

    Range
    5041..39520
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003737.4NP_003728.1  protocadherin-16 precursor

    See identical proteins and their annotated locations for NP_003728.1

    Status: REVIEWED

    Source sequence(s)
    AB053446, AC091564
    Consensus CDS
    CCDS7771.1
    UniProtKB/Swiss-Prot
    Q96JQ0
    Related
    ENSP00000299441.3, ENST00000299441.5
    Conserved Domains (1) summary
    cd11304
    Location:11141207
    Cadherin_repeat; Cadherin tandem repeat domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    6621330..6655809 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_024542.1: Suppressed sequence

    Description
    NM_024542.1: This RefSeq was permanently suppressed because it is primarily UTR sequence and contains the wrong CDS.
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