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Aliases for DCHS1 Gene

Aliases for DCHS1 Gene

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

External Ids for DCHS1 Gene

Previous Symbols for DCHS1 Gene

  • CDH25
  • PCDH16

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 van maldergem syndrome. Among its related pathways are ERK Signaling and ERK Signaling. 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

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

Genomic Location for DCHS1 Gene

Start:
6,621,323 bp from pter
End:
6,664,089 bp from pter
Size:
42,767 bases
Orientation:
Minus strand

Genomic View for DCHS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DCHS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DCHS1 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn217, Asn256, Asn402, Asn584, Asn1249, Asn1521, Asn1718, Asn1996, Asn2361, Asn2428, Asn2569, Asn2761, Asn2792, and Asn2862

Other Protein References for DCHS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DCHS1 Gene

Domains for DCHS1 Gene

Gene Families for DCHS1 Gene

HGNC:
  • CDHR :Cadherins / Cadherin-related

Protein Domains for DCHS1 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

PCD16_HUMAN
Domain:
  • Contains 27 cadherin domains.:
    • Q96JQ0
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

Gene Ontology (GO) - Molecular Function for DCHS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with DCHS1: view
genes like me logo Genes that share phenotypes with DCHS1: view

Animal Models for DCHS1 Gene

MGI Knock Outs for DCHS1:

miRNA for DCHS1 Gene

miRTarBase miRNAs that target DCHS1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for DCHS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane NAS 9199196
GO:0016021 integral component of membrane IEA --
GO:0045177 apical part of cell IEA --
genes like me logo Genes that share ontologies with DCHS1: view

Pathways 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:0001658 branching involved in ureteric bud morphogenesis IEA --
GO:0001822 kidney development --
GO:0003007 heart morphogenesis IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules ISS --
genes like me logo Genes that share ontologies with DCHS1: view

Compounds for DCHS1 Gene

(1) HMDB Compounds for DCHS1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with DCHS1: view

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
  • 98.26 (n)
  • 97.96 (a)
DCHS1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DCHS1 36
  • 89.32 (n)
  • 93.78 (a)
DCHS1 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DCHS1 36
  • 90.41 (n)
  • 94.42 (a)
DCHS1 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dchs1 36
  • 87.35 (n)
  • 92.71 (a)
Dchs1 16
Dchs1 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DCHS1 37
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 23 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Dchs1 36
  • 87.15 (n)
  • 92.1 (a)
chicken
(Gallus gallus)
Aves DCHS1 36
  • 64.18 (n)
  • 61.04 (a)
DCHS1 37
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DCHS1 37
  • 54 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii dchs1a 37
  • 51 (a)
OneToMany
dchs1b 36
  • 56.71 (n)
  • 52.99 (a)
dchs1b 37
  • 51 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007905 36
  • 47.73 (n)
  • 37.18 (a)
fruit fly
(Drosophila melanogaster)
Insecta ds 36
  • 46.92 (n)
  • 39.65 (a)
ds 37
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cdh-1 36
  • 40.93 (n)
  • 29.61 (a)
cdh-1 37
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs937850 -- 6,647,944(-) CCTTC(A/C)CCTCC intron-variant
rs937851 -- 6,646,122(-) GTGTG(C/T)GTATG intron-variant
rs937852 -- 6,645,859(-) ATGTG(A/C)ATCTG intron-variant
rs937855 -- 6,665,299(-) GGATA(C/T)ACTTT upstream-variant-2KB
rs937856 -- 6,662,311(-) GAGCC(A/C)AATCT intron-variant

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

Relevant External Links for DCHS1 Gene

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

Disorders for DCHS1 Gene

(1) OMIM Diseases for DCHS1 Gene (603057)

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.

Relevant External Links for DCHS1

Genetic Association Database (GAD)
DCHS1
Human Genome Epidemiology (HuGE) Navigator
DCHS1
genes like me logo Genes that share disorders with DCHS1: view

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
  2. Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs. (PMID: 11597768) Nakajima D. … Ohara O. (Brain Res. Mol. Brain Res. 2001) 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  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 4
  5. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. (PMID: 17903297) Seshadri S. … Wolf P.A. (BMC Med. Genet. 2007) 49

Products for DCHS1 Gene

Sources for DCHS1 Gene

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