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

    Gene ID: 8642, updated on 2-May-2024

    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; AllianceGenome:HGNC:13681
    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; MMVP2; 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
    NEW
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    Genomic context

    See DCHS1 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (6621330..6655809, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (6679797..6714267, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (6642561..6677040, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4347 Neighboring gene Sharpr-MPRA regulatory region 730 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:6632062-6632650 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:6632651-6633238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4349 Neighboring gene integrin linked kinase Neighboring gene TATA-box binding protein associated factor 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4350 Neighboring gene tripeptidyl peptidase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4352 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:6662561-6663130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:6668387-6668887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4354 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:6704113-6704875 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, myxomatous 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

    Clone Names

    • FLJ11790, KIAA1773

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    protocadherin-16
    Names
    cadherin-19
    cadherin-25
    cadherin-related family member 6
    fibroblast cadherin 1
    fibroblast cadherin FIB1
    myxomatous mitral valve prolapse 2
    protein dachsous homolog 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      O15098, Q96JQ0
      Related
      ENSP00000299441.3, ENST00000299441.5
      Conserved Domains (1) summary
      cd11304
      Location:11141207
      Cadherin_repeat; Cadherin tandem repeat domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      6679797..6714267 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.