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Aliases for DCHS1 Gene

Aliases for DCHS1 Gene

  • Dachsous Cadherin-Related 1 2 3 5
  • Cadherin-Related Family Member 6 2 3
  • Protein Dachsous Homolog 1 3 4
  • Cadherin-19 3 4
  • Cadherin-25 3 4
  • PCDH16 3 4
  • CDH25 3 4
  • CDH19 3 4
  • FIB1 3 4
  • Fibroblast Cadherin FIB1 3
  • Dachsous 1 (Drosophila) 2
  • Fibroblast Cadherin 1 3
  • Fibroblast Cadherin-1 4
  • Protocadherin 16 2
  • KIAA1773 4
  • VMLDS1 3
  • CDHR6 3
  • MVP2 3

External Ids for DCHS1 Gene

Previous HGNC Symbols for DCHS1 Gene

  • CDH25
  • PCDH16

Previous GeneCards Identifiers for DCHS1 Gene

  • GC11M006599
  • GC11M006301

Summaries for DCHS1 Gene

Entrez Gene Summary for DCHS1 Gene

  • 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]

GeneCards Summary for DCHS1 Gene

DCHS1 (Dachsous Cadherin-Related 1) is a Protein Coding gene. Diseases associated with DCHS1 include van maldergem syndrome 1 and mitral valve prolapse, myxomatous 2. Among its related pathways are ERK Signaling and Cell junction organization. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is FAT4.

UniProtKB/Swiss-Prot for DCHS1 Gene

  • 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).

Gene Wiki entry for DCHS1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DCHS1 Gene

Genomics for DCHS1 Gene

Regulatory Elements for DCHS1 Gene

Promoters for DCHS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DCHS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DCHS1 Gene

Chromosome:
11
Start:
6,621,323 bp from pter
End:
6,655,854 bp from pter
Size:
34,532 bases
Orientation:
Minus strand

Genomic View for DCHS1 Gene

Genes around DCHS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DCHS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DCHS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DCHS1 Gene

Proteins for DCHS1 Gene

  • Protein details for DCHS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JQ0-PCD16_HUMAN
    Recommended name:
    Protocadherin-16
    Protein Accession:
    Q96JQ0
    Secondary Accessions:
    • O15098

    Protein attributes for DCHS1 Gene

    Size:
    3298 amino acids
    Molecular mass:
    346181 Da
    Quaternary structure:
    • Heterophilic interaction with FAT4; this interaction affects their respective protein levels.
    SequenceCaution:
    • Sequence=BAB61903.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for DCHS1 Gene

Proteomics data for DCHS1 Gene at MOPED

Post-translational modifications for DCHS1 Gene

  • Glycosylation at Asn 217, Asn 256, Asn 402, Asn 584, Asn 1249, Asn 1521, Asn 1718, Asn 1996, Asn 2361, Asn 2428, Asn 2569, Asn 2761, Asn 2792, and Asn 2862
  • Modification sites at PhosphoSitePlus

Other Protein References for DCHS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DCHS1 Gene

Domains & Families for DCHS1 Gene

Gene Families for DCHS1 Gene

Protein Domains for DCHS1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for DCHS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96JQ0

UniProtKB/Swiss-Prot:

PCD16_HUMAN :
  • Contains 27 cadherin domains.
Domain:
  • Contains 27 cadherin domains.
genes like me logo Genes that share domains with DCHS1: view

Function for DCHS1 Gene

Molecular function for DCHS1 Gene

UniProtKB/Swiss-Prot Function:
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).
genes like me logo Genes that share phenotypes with DCHS1: view

Human Phenotype Ontology for DCHS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DCHS1 Gene

MGI Knock Outs for DCHS1:

Animal Model Products

  • Taconic Biosciences Mouse Models for DCHS1

miRNA for DCHS1 Gene

miRTarBase miRNAs that target DCHS1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for DCHS1 Gene

Localization for DCHS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCHS1 Gene

Cell membrane; Single-pass type I membrane protein. Note=In the embryonic cortex, FAT4 and DCHS1 accumulated at the cell-cell boundaries located apical to the adherens junction. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DCHS1 Gene COMPARTMENTS Subcellular localization image for DCHS1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for DCHS1 Gene

Pathways & Interactions for DCHS1 Gene

genes like me logo Genes that share pathways with DCHS1: view

Gene Ontology (GO) - Biological Process for DCHS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEA --
GO:0003007 heart morphogenesis IEA --
GO:0003192 mitral valve formation IMP 26258302
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
genes like me logo Genes that share ontologies with DCHS1: view

No data available for SIGNOR curated interactions for DCHS1 Gene

Drugs & Compounds for DCHS1 Gene

(1) Drugs for DCHS1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with DCHS1: view

Transcripts for DCHS1 Gene

mRNA/cDNA for DCHS1 Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(676) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DCHS1 Gene

Dachsous 1 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DCHS1 Gene

No ASD Table

Relevant External Links for DCHS1 Gene

GeneLoc Exon Structure for
DCHS1
ECgene alternative splicing isoforms for
DCHS1

Expression for DCHS1 Gene

mRNA expression in normal human tissues for DCHS1 Gene

Protein differential expression in normal tissues from HIPED for DCHS1 Gene

This gene is overexpressed in Fetal Brain (31.3) and Liver, secretome (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DCHS1 Gene



SOURCE GeneReport for Unigene cluster for DCHS1 Gene Hs.199850

mRNA Expression by UniProt/SwissProt for DCHS1 Gene

Q96JQ0-PCD16_HUMAN
Tissue specificity: Expressed in fibroblasts but not in melanocytes or keratinocytes.
genes like me logo Genes that share expression patterns with DCHS1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for DCHS1 Gene

Orthologs for DCHS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DCHS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DCHS1 36
  • 99 (a)
OneToOne
DCHS1 35
  • 98.26 (n)
  • 97.96 (a)
cow
(Bos Taurus)
Mammalia DCHS1 35
  • 89.32 (n)
  • 93.78 (a)
DCHS1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DCHS1 36
  • 90 (a)
OneToOne
DCHS1 35
  • 90.41 (n)
  • 94.42 (a)
mouse
(Mus musculus)
Mammalia Dchs1 16
Dchs1 36
  • 93 (a)
OneToOne
Dchs1 35
  • 87.35 (n)
  • 92.71 (a)
oppossum
(Monodelphis domestica)
Mammalia DCHS1 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 23 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Dchs1 35
  • 87.15 (n)
  • 92.1 (a)
chicken
(Gallus gallus)
Aves DCHS1 35
  • 64.18 (n)
  • 61.04 (a)
DCHS1 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DCHS1 36
  • 54 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii dchs1b 35
  • 56.71 (n)
  • 52.99 (a)
dchs1a 36
  • 51 (a)
OneToMany
dchs1b 36
  • 51 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007905 35
  • 47.73 (n)
  • 37.18 (a)
fruit fly
(Drosophila melanogaster)
Insecta ds 35
  • 46.92 (n)
  • 39.65 (a)
ds 36
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cdh-1 36
  • 26 (a)
OneToMany
cdh-1 35
  • 40.93 (n)
  • 29.61 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToMany
Species with no ortholog for DCHS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for DCHS1 Gene

ENSEMBL:
Gene Tree for DCHS1 (if available)
TreeFam:
Gene Tree for DCHS1 (if available)

Paralogs for DCHS1 Gene

Paralogs for DCHS1 Gene

(5) SIMAP similar genes for DCHS1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DCHS1: view

Variants for DCHS1 Gene

Sequence variations from dbSNP and Humsavar for DCHS1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_036110 A colorectal cancer sample
rs4758443 - 6,627,193(+) GCACC(A/G)TGATG reference, missense
rs7924553 - 6,625,353(+) GGAGA(C/T)ACGGC reference, missense
rs2659875 - 6,625,269(-) AGGGC(C/T)GTGCC reference, missense
rs56920123 - 6,626,230(+) GCCGC(A/T)GGAAA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DCHS1 Gene

Variant ID Type Subtype PubMed ID
nsv825755 CNV Gain 20364138
esv24387 CNV Gain 19812545

Variation tolerance for DCHS1 Gene

Residual Variation Intolerance Score: 87.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.10; 87.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DCHS1 Gene

HapMap Linkage Disequilibrium report
DCHS1
Human Gene Mutation Database (HGMD)
DCHS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DCHS1 Gene

Disorders for DCHS1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for DCHS1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
van maldergem syndrome 1
  • cerebro-facio-articular syndrome
mitral valve prolapse, myxomatous 2
  • mitral valve prolapse 2
van maldergem syndrome
  • cerebro-facio-articular syndrome
van maldergem wetzburger verloes syndrome
  • van maldergem syndrome
mitral valve prolapse 2
  • mitral valve prolapse, myxomatous 2
- elite association - COSMIC cancer census association via MalaCards
Search DCHS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PCD16_HUMAN
  • Van Maldergem syndrome 1 (VMLDS1) [MIM:601390]: An 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. {ECO:0000269 PubMed:24056717}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitral valve prolapse 2 (MVP2) [MIM:607829]: A 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. {ECO:0000269 PubMed:26258302}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DCHS1

Genetic Association Database (GAD)
DCHS1
Human Genome Epidemiology (HuGE) Navigator
DCHS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DCHS1
genes like me logo Genes that share disorders with DCHS1: view

No data available for Genatlas for DCHS1 Gene

Publications for DCHS1 Gene

  1. Multiple cadherins are expressed in human fibroblasts. (PMID: 9199196) Matsuyoshi N. … Imamura S. (Biochem. Biophys. Res. Commun. 1997) 2 3 4 67
  2. Mutations in DCHS1 cause mitral valve prolapse. (PMID: 26258302) Durst R. … Slaugenhaupt S.A. (Nature 2015) 3
  3. Giant cadherins Fat and Dachsous self-bend to organize properly spaced intercellular junctions. (PMID: 25355906) Tsukasaki Y. … Takeichi M. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3
  4. Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. (PMID: 24056717) Cappello S. … Robertson S.P. (Nat. Genet. 2013) 3
  5. Mindbomb 1, an E3 ubiquitin ligase, forms a complex with RYK to activate Wnt/I^-catenin signaling. (PMID: 21875946) Berndt J.D. … Moon R.T. (J. Cell Biol. 2011) 3

Products for DCHS1 Gene

Sources for DCHS1 Gene

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