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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DCHS1 Gene

protein-coding   GIFtS: 52
GCID: GC11M006642

dachsous 1 (Drosophila)

(Previous name: protocadherin 16 )
(Previous symbols: CDH25, PCDH16)
 Explore 1 disease affiliated with
DCHS1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DCHS1    

Aliases
for DCHS1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Dachsous 1 (Drosophila)1 2     Cadherin-193
CDH251 2 3     Cadherin-253
FIB11 2 3     Cadherin-Related Family Member 62
PCDH161 2 3     Fibroblast Cadherin 12
CDHR61 2     Fibroblast Cadherin FIB12
Protocadherin 161 2     Protocadherin-161
KIAA17731 3     CDH193
Fibroblast Cadherin-12 3     Cadherin-193
Protein Dachsous Homolog 12 3     Cadherin-253
FLJ117901     

External Ids:    HGNC: 136811   Entrez Gene: 86422   Ensembl: ENSG000001663417   OMIM: 6030575   UniProtKB: Q96JQ03   

Export aliases for DCHS1 gene to outside databases

Previous GC identifers: GC11M006599 GC11M006301


Summaries
for DCHS1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for DCHS1:
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)

UniProtKB/Swiss-Prot: PCD16_HUMAN, Q96JQ0
Function: Calcium-dependent cell-adhesion protein (Potential)

Gene Wiki entry for DCHS1


Genomic Views
for DCHS1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DCHS1 gene promoter:
         AML1a   AP-1   HTF   E47   Egr-4   Max   FOXO4   PPAR-gamma2   ATF6   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DCHS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DCHS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DCHS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.4   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15.4

DCHS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DCHS1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M006642:  view genomic region     (about GC identifiers)

Start:
 6,642,556 bp from pter      End:
 6,677,085 bp from pter
Size:
 34,530 bases      Orientation:
 minus strand

Proteins
for DCHS1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PCD16_HUMAN, Q96JQ0 (See protein sequence)
Recommended Name: Protocadherin-16 precursor  
Size: 3298 amino acids; 346181 Da
Subcellular location: Cell membrane; Single-pass type I membrane protein (By similarity)
Sequence caution: Sequence=BAB61903.2; Type=Erroneous initiation;
Secondary accessions: O15098

Explore the universe of human proteins at neXtProt for DCHS1: NX_Q96JQ0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96JQ0

    • DCHS1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003728.1  
    ENSEMBL proteins: 
     ENSP00000299441  

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    Uscn Proteins for DCHS1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016020membrane NAS9199196
    GO:0016021integral to membrane IEA--


    DCHS1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for DCHS1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DCHS1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR015919 Cadherin-like
     IPR020894 Cadherin_CS
     IPR002126 Cadherin

    Graphical View of Domain Structure for InterPro Entry Q96JQ0

    ProtoNet protein and cluster: Q96JQ0

    1 Blocks protein family: IPB002126 Cadherin

    UniProtKB/Swiss-Prot: PCD16_HUMAN, Q96JQ0
    Similarity: Contains 27 cadherin domains


    Function
    for DCHS1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: PCD16_HUMAN, Q96JQ0
    Function: Calcium-dependent cell-adhesion protein (Potential)

    miRNA
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    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate DCHS1 (see all 21):
    hsa-miR-142-5p hsa-miR-485-5p hsa-miR-2110 hsa-miR-1285 hsa-miR-520a-5p hsa-miR-759 hsa-miR-3150a-3p hsa-miR-4314
    SwitchGear 3'UTR luciferase reporter plasmid: DCHS1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--


    DCHS1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for DCHS1:
     G0/1 arrest  Increased G1 DNA content 

    Animal Models:
         Mouse knock-out Dchs1tm1.2Irv for DCHS1
         12 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Dchs1):
     cardiovascular system  digestive/alimentary  embryogenesis  growth/size  hearing/vestibular/ear 
     limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis  renal/urinary system 
     respiratory system  skeleton 

    DCHS1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for DCHS1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DCHS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/28 Interacting proteins for DCHS1 (Q96JQ03 ENSP000002994414) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FAT4Q6V0I73, ENSP000003778624I2D: score=1 STRING: ENSP00000377862
    FJX1Q86VR83, ENSP000004002234I2D: score=1 STRING: ENSP00000400223
    RYKP349253, ENSP000002960844I2D: score=1 STRING: ENSP00000296084
    KLC1Q078663I2D: score=5 
    LIX1LQ8IVB53I2D: score=5 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007156homophilic cell adhesion IEA--
    GO:0016339calcium-dependent cell-cell adhesion NAS9199196


    DCHS1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for DCHS1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DCHS1

    1 HMDB Compound for DCHS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Search CenterWatch for drugs/clinical trials and news about DCHS1 / PCD16 

    Transcripts
    for DCHS1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for DCHS1 gene (2 alternative transcripts): 
    NM_003737.2  NM_024542.1  

    Unigene Cluster for DCHS1:

    Dachsous 1 (Drosophila)
    Hs.199850  [show with all ESTs]
    Unigene Representative Sequence: AB053446
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000299441(uc001mem.1)

    miRNA
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    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate DCHS1 (see all 21):
    hsa-miR-142-5p hsa-miR-485-5p hsa-miR-2110 hsa-miR-1285 hsa-miR-520a-5p hsa-miR-759 hsa-miR-3150a-3p hsa-miR-4314
    SwitchGear 3'UTR luciferase reporter plasmid: DCHS1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DCHS1

    Additional cDNA sequence: 

    AB000895.1 AB053446.1 AK021852.1 AL831828.1 BC038382.1 

    6 DOTS entries:

    DT.442759  DT.92421739  DT.95168984  DT.100750224  DT.99952741  DT.120751357 

    24/676 AceView cDNA sequences (see all 676):

    BU185308 BI056171 BM971099 AL543280 BF001914 AJ712396 BP379315 BQ684142 
    BG427285 BQ680818 BE301529 BE501632 AI696153 BF904079 BG231932 N39806 
    AI220944 BQ679283 AW300039 AA861148 CR614001 N45929 T54160 BQ066572 

    GeneLoc Exon Structure


    Expression
    for DCHS1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DCHS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTGGACCCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    DCHS1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor SM22 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See DCHS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DCHS1

    SOURCE GeneReport for Unigene cluster: Hs.199850

    UniProtKB/Swiss-Prot: PCD16_HUMAN, Q96JQ0
    Tissue specificity: Fibroblast specific

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    In Situ
    Assay Products:     
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    Orthologs
    for DCHS1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for DCHS1 gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves DCHS11 dachsous 1 (Drosophila) 64.26(n)
    61.22(a)    		   419073  XM_417264.3  XP_417264.3 
    lizard
    (Anolis carolinensis)    		 Reptilia DCHS16
    		 --
    		 54(a)
    		 1 ↔ 1
    		 GL344198.1(35744-64855)
    African clawed frog
    (Xenopus laevis)    		 Amphibia BJ072271.12   -- 70.05(n)    BJ072271.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii dchs1b1 dachsous 1b (Drosophila) 56.61(n)
    52.92(a)    		   553300  XM_001921249.2  XP_001921284.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta ds1 dachsous 46.54(n)
    38.89(a)    		   33245  NM_078722.2  NP_523446.2 
    worm
    (Caenorhabditis elegans)    		 Secernentea cdh-11 Protein CDH-1 40.59(n)
    29.18(a)    		   187783  NM_065240.2  NP_497641.2 


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

    Paralogs
    for DCHS1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DCHS1 gene
    CDH232  CDHR22  DCHS22  CELSR32  FAT22  CELSR12  CDHR12  PCDH152  
    FAT42  FAT32  CELSR22  FAT12  
    7 SIMAP similar genes for DCHS1 using alignment to 1 protein entry:     PCD16_HUMAN:
    DCHS2    PCDHB18    PCDHB11    PCDHB16    PCDHB17    PCDHB15
    PCDHB5

    DCHS1 for paralogs           About GeneDecksing



    Genomic Variants
    for DCHS1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/779 NCBI SNPs in DCHS1 are shown (see all 779)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs617353291,2
    		--6642745(+) GGGCAG/CGGATC 1 -- ut312Minor allele frequency- C:0.38NS NA 192
    rs1442676221,2
    		C,--6642758(+) TCACT-/GAGGAGAA 1 -- ut310--------
    rs773077731,2
    		--6642835(+) CAGGGC/TTTCTG 1 -- ut310--------
    rs2014367861,2
    		--6643073(+) GAGGCC/TGAGGG 2 S syn10--------
    rs617353311,2
    		C,F--6643110(+) CAACGG/AGTGAG 2 /P /L mis12Minor allele frequency- A:0.00NS NA 4494
    rs2009635311,2
    		--6643117(+) TGAGCA/GAGCAG 2 R C mis10--------
    rs1397630431,2
    		C--6643120(+) GCGAGC/TAGCCA 2 T A mis11Minor allele frequency- T:0.00NA 4430
    rs1882981001,2
    		C,--6643162(+) CATGGA/CAGCTG 2 A S mis10--------
    rs1807723211,2
    		--6643163(+) ATGGCA/GGCTGA 2 A syn10--------
    rs2000884871,2
    		C,--6643290(+) CGGCAA/GTGATG 2 T I mis10--------

    HapMap Linkage Disequilibrium report for DCHS1 (6642556 - 6677085 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for DCHS1
         1 CNV: 65855

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DCHS1
    DNA2.0 Custom Variant and Variant Library Synthesis for DCHS1

    Disorders / Diseases
    for DCHS1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    DCHS1 for disorders           About GeneDecksing

    OMIM gene information: 603057    OMIM disorders: --

    1 disease for DCHS1:    About MalaCards
    marfan syndrome

    Human Genome Epidemiology (HuGE) Navigator: DCHS1 (1 document)

    Export disorders for DCHS1 gene to outside databases

    Publications
    for DCHS1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DCHS1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with DCHS1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Multiple cadherins are expressed in human fibroblasts. (PubMed id 9199196)1, 2, 3 Matsuyoshi N. and Imamura S. (1997)
    2. Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs. (PubMed id 11597768)1, 2 Nakajima D.... Ohara O. (2001)
    3. Mindbomb 1, an E3 ubiquitin ligase, forms a complex w ith RYK to activate Wnt/I^-catenin signaling. (PubMed id 21875946)1 Berndt J.D....Moon R.T. (2011)
    4. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    8. Cadherin-19 expression is restricted to myelin-formin g cells in the chicken embryo. (PubMed id 19850111)9 Lin J....Redies C. (2010)

    External Searches for DCHS1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing DCHS1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8642 HGNC: 13681 AceView: CLN2andDCHS1 Ensembl:ENSG00000166341 euGenes: HUgn8642
    ECgene: DCHS1 H-InvDB: DCHS1

    Other Databases showing DCHS1 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1773

    Specialized Databases showing DCHS1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DCHS1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
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    Licensable technologies from WIS Yeda, Salk, Tufts,
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    		Patent Information for DCHS1 gene:
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