• Gene id: 8642

Gene Summary

• Gene Symbol: DCHS1   Gene   UCSC   Ensembl
• Aliases: CDH19, CDH25, CDHR6, FIB1, MVP2, PCDH16, VMLDS1
• Gene name: dachsous cadherin-related 1
• Alternate names: protocadherin-16, cadherin-19, cadherin-25, cadherin-related family member 6, fibroblast cadherin 1, fibroblast cadherin FIB1, protein dachsous homolog 1,
• Gene location: 11p15.4 (150978320: 150944955)     Exons: 19     NC_000007.14
• Gene summary(Entrez): 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 me
• OMIM: 603057

Protein Summary

• Protein general information: Q96JQ0  
  • Name: Protocadherin 16 (Cadherin 19) (Cadherin 25) (Fibroblast cadherin 1) (Protein dachsous homolog 1)
  • Length: 3298  
  • Mass: 346181
  • Tissue specificity: Expressed in fibroblasts but not in melanocytes or keratinocytes. {ECO
• Sequence:

  MQKELGIVPSCPGMKSPRPHLLLPLLLLLLLLLGAGVPGAWGQAGSLDLQIDEEQPAGTLIGDISAGLPAGTAAP
  LMYFISAQEGSGVGTDLAIDEHSGVVRTARVLDREQRDRYRFTAVTPDGATVEVTVRVADINDHAPAFPQARAAL
  QVPEHTAFGTRYPLEPARDADAGRLGTQGYALSGDGAGETFRLETRPGPDGTPVPELVVTGELDRENRSHYMLQL
  EAYDGGSPPRRAQALLDVTLLDINDHAPAFNQSRYHAVVSESLAPGSPVLQVFASDADAGVNGAVTYEINRRQSE
  GDGPFSIDAHTGLLQLERPLDFEQRRVHELVVQARDGGAHPELGSAFVTVHVRDANDNQPSMTVIFLSADGSPQV
  SEAAPPGQLVARISVSDPDDGDFAHVNVSLEGGEGHFALSTQDSVIYLVCVARRLDREERDAYNLRVTATDSGSP
  PLRAEAAFVLHVTDVNDNAPAFDRQLYRPEPLPEVALPGSFVVRVTARDPDQGTNGQVTYSLAPGAHTHWFSIDP
  TSGIITTAASLDYELEPQPQLIVVATDGGLPPLASSATVSVALQDVNDNEPQFQRTFYNASLPEGTQPGTCFLQV
  TATDADSGPFGLLSYSLGAGLGSSGSPPFRIDAHSGDVCTTRTLDRDQGPSSFDFTVTAVDGGGLKSMVYVKVFL
  SDENDNPPQFYPREYAASISAQSPPGTAVLRLRAHDPDQGSHGRLSYHILAGNSPPLFTLDEQSGLLTVAWPLAR
  RANSVVQLEIGAEDGGGLQAEPSARVDISIVPGTPTPPIFEQLQYVFSVPEDVAPGTSVGIVQAHNPPGRLAPVT
  LSLSGGDPRGLFSLDAVSGLLQTLRPLDRELLGPVLELEVRAGSGVPPAFAVARVRVLLDDVNDNSPAFPAPEDT
  VLLPPNTAPGTPIYTLRALDPDSGVNSRVTFTLLAGGGGAFTVDPTTGHVRLMRPLGPSGGPAHELELEARDGGS
  PPRTSHFRLRVVVQDVGTRGLAPRFNSPTYRVDLPSGTTAGTQVLQVQAQAPDGGPITYHLAAEGASSPFGLEPQ
  SGWLWVRAALDREAQELYILKVMAVSGSKAELGQQTGTATVRVSILNQNEHSPRLSEDPTFLAVAENQPPGTSVG
  RVFATDRDSGPNGRLTYSLQQLSEDSKAFRIHPQTGEVTTLQTLDREQQSSYQLLVQVQDGGSPPRSTTGTVHVA
  VLDLNDNSPTFLQASGAAGGGLPIQVPDRVPPGTLVTTLQAKDPDEGENGTILYTLTGPGSELFSLHPHSGELLT
  AAPLIRAERPHYVLTLSAHDQGSPPRSASLQLLVQVLPSARLAEPPPDLAERDPAAPVPVVLTVTAAEGLRPGSL
  LGSVAAPEPAGVGALTYTLVGGADPEGTFALDAASGRLYLARPLDFEAGPPWRALTVRAEGPGGAGARLLRVQVQ
  VQDENEHAPAFARDPLALALPENPEPGAALYTFRASDADGPGPNSDVRYRLLRQEPPVPALRLDARTGALSAPRG
  LDRETTPALLLLVEATDRPANASRRRAARVSARVFVTDENDNAPVFASPSRVRLPEDQPPGPAALHVVARDPDLG
  EAARVSYRLASGGDGHFRLHSSTGALSVVRPLDREQRAEHVLTVVASDHGSPPRSATQVLTVSVADVNDEAPTFQ
  QQEYSVLLRENNPPGTSLLTLRATDPDVGANGQVTYGGVSSESFSLDPDTGVLTTLRALDREEQEEINLTVYAQD
  RGSPPQLTHVTVRVAVEDENDHAPTFGSAHLSLEVPEGQDPQTLTMLRASDPDVGANGQLQYRILDGDPSGAFVL
  DLASGEFGTMRPLDREVEPAFQLRIEARDGGQPALSATLLLTVTVLDANDHAPAFPVPAYSVEVPEDVPAGTLLL
  QLQAHDPDAGANGHVTYYLGAGTAGAFLLEPSSGELRTAAALDREQCPSYTFSVSAVDGAAAGPLSTTVSVTITV
  RDVNDHAPTFPTSPLRLRLPRPGPSFSTPTLALATLRAEDRDAGANASILYRLAGTPPPGTTVDSYTGEIRVARS
  PVALGPRDRVLFIVATDLGRPARSATGVIIVGLQGEAERGPRFPRASSEATIRENAPPGTPIVSPRAVHAGGTNG
  PITYSILSGNEKGTFSIQPSTGAITVRSAEGLDFEVSPRLRLVLQAESGGAFAFTVLTLTLQDANDNAPRFLRPH
  YVAFLPESRPLEGPLLQVEADDLDQGSGGQISYSLAASQPARGLFHVDPTTGTITTTAILDREIWAETRLVLMAT
  DRGSPALVGSATLTVMVIDTNDNRPTIPQPWELRVSEDALLGSEIAQVTGNDVDSGPVLWYVLSPSGPQDPFSVG
  RYGGRVSLTGPLDFEQCDRYQLQLLAHDGPHEGRANLTVLVEDVNDNAPAFSQSLYQVMLLEHTPPGSAILSVSA
  TDRDSGANGHISYHLASPADGFSVDPNNGTLFTIVGTVALGHDGSGAVDVVLEARDHGAPGRAARATVHVQLQDQ
  NDHAPSFTLSHYRVAVTEDLPPGSTLLTLEATDADGSRSHAAVDYSIISGNWGRVFQLEPRLAEAGESAGPGPRA
  LGCLVLLEPLDFESLTQYNLTVAAADRGQPPQSSVVPVTVTVLDVNDNPPVFTRASYRVTVPEDTPVGAELLHVE
  ASDADPGPHGLVRFTVSSGDPSGLFELDESSGTLRLAHALDCETQARHQLVVQAADPAGAHFALAPVTIEVQDVN
  DHGPAFPLNLLSTSVAENQPPGTLVTTLHAIDGDAGAFGRLRYSLLEAGPGPEGREAFALNSSTGELRARVPFDY
  EHTESFRLLVGAADAGNLSASVTVSVLVTGEDEYDPVFLAPAFHFQVPEGARRGHSLGHVQATDEDGGADGLVLY
  SLATSSPYFGINQTTGALYLRVDSRAPGSGTATSGGGGRTRREAPRELRLEVIARGPLPGSRSATVPVTVDITHT
  ALGLAPDLNLLLVGAVAASLGVVVVLALAALVLGLVRARSRKAEAAPGPMSQAAPLASDSLQKLGREPPSPPPSE
  HLYHQTLPSYGGPGAGGPYPRGGSLDPSHSSGRGSAEAAEDDEIRMINEFPRVASVASSLAARGPDSGIQQDADG
  LSDTSCEPPAPDTWYKGRKAGLLLPGAGATLYREEGPPATATAFLGGCGLSPAPTGDYGFPADGKPCVAGALTAI
  VAGEEELRGSYNWDYLLSWCPQFQPLASVFTEIARLKDEARPCPPAPRIDPPPLITAVAHPGAKSVPPKPANTAA
  ARAIFPPASHRSPISHEGSLSSAAMSPSFSPSLSPLAARSPVVSPFGVAQGPSASALSAESGLEPPDDTELHI

• Structural information:
  • Protein Domains: (43..14-)
    (/note="Cadherin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (144..25-)
    (/note="Cadherin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (256..36-)
    (/note="Cadherin-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:-)
  • Interpro: IPR002126  IPR015919  IPR020894  
  • Prosite: PS00232 PS50268
  • STRING: ENSP00000299441
• Other Databases: GeneCards:  DCHS1  Malacards:  DCHS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045296	cadherin binding	IBA	molecular function
GO:0098742	cell-cell adhesion via plasma-membrane adhesion molecules	IBA	biological process
GO:0005509	calcium ion binding	IBA	molecular function
GO:0016342	catenin complex	IBA	cellular component
GO:0003273	cell migration involved in endocardial cushion formation	IMP	biological process
GO:0003192	mitral valve formation	IMP	biological process
GO:0035329	hippo signaling	ISS	biological process
GO:0022008	neurogenesis	ISS	biological process
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0072659	protein localization to plasma membrane	IEA	biological process
GO:0072137	condensed mesenchymal cell proliferation	IEA	biological process
GO:0045177	apical part of cell	IEA	cellular component
GO:0036342	post-anal tail morphogenesis	IEA	biological process
GO:0035329	hippo signaling	IEA	biological process
GO:0022008	neurogenesis	IEA	biological process
GO:0021915	neural tube development	IEA	biological process
GO:0016477	cell migration	IEA	biological process
GO:0009653	anatomical structure morphogenesis	IEA	biological process
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IEA	biological process
GO:0003183	mitral valve morphogenesis	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0090102	cochlea development	IEA	biological process
GO:0072006	nephron development	IEA	biological process
GO:0048565	digestive tract development	IEA	biological process
GO:0043931	ossification involved in bone maturation	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0003007	heart morphogenesis	IEA	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016339	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	NAS	biological process
GO:0016020	membrane	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04392	Hippo signaling pathway - multiple species

Diseases

Associated diseases	References
Van Maldergem syndrome	KEGG:H01393
Mitral valve prolapse	KEGG:H01868
Van Maldergem syndrome	KEGG:H01393
Mitral valve prolapse	KEGG:H01868
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq