DCHS1

Protein identityUniProt · HPA

UniProt accession

Q96JQ0

Gene

DCHS1

Ensembl

ENSG00000166341

Chromosome

11

Canonical length

3298 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted membrane proteins

Subcellular location

Plasma membrane

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

3298 residues, UniProt reviewed canonical sequence.

>Q96JQ0|DCHS1
     1  MQKELGIVPS CPGMKSPRPH LLLPLLLLLL LLLGAGVPGA WGQAGSLDLQ IDEEQPAGTL
    61  IGDISAGLPA GTAAPLMYFI SAQEGSGVGT DLAIDEHSGV VRTARVLDRE QRDRYRFTAV
   121  TPDGATVEVT VRVADINDHA PAFPQARAAL QVPEHTAFGT RYPLEPARDA DAGRLGTQGY
   181  ALSGDGAGET FRLETRPGPD GTPVPELVVT GELDRENRSH YMLQLEAYDG GSPPRRAQAL
   241  LDVTLLDIND HAPAFNQSRY HAVVSESLAP GSPVLQVFAS DADAGVNGAV TYEINRRQSE
   301  GDGPFSIDAH TGLLQLERPL DFEQRRVHEL VVQARDGGAH PELGSAFVTV HVRDANDNQP
   361  SMTVIFLSAD GSPQVSEAAP PGQLVARISV SDPDDGDFAH VNVSLEGGEG HFALSTQDSV
   421  IYLVCVARRL DREERDAYNL RVTATDSGSP PLRAEAAFVL HVTDVNDNAP AFDRQLYRPE
   481  PLPEVALPGS FVVRVTARDP DQGTNGQVTY SLAPGAHTHW FSIDPTSGII TTAASLDYEL
   541  EPQPQLIVVA TDGGLPPLAS SATVSVALQD VNDNEPQFQR TFYNASLPEG TQPGTCFLQV
   601  TATDADSGPF GLLSYSLGAG LGSSGSPPFR IDAHSGDVCT TRTLDRDQGP SSFDFTVTAV
   661  DGGGLKSMVY VKVFLSDEND NPPQFYPREY AASISAQSPP GTAVLRLRAH DPDQGSHGRL
   721  SYHILAGNSP PLFTLDEQSG LLTVAWPLAR RANSVVQLEI GAEDGGGLQA EPSARVDISI
   781  VPGTPTPPIF EQLQYVFSVP EDVAPGTSVG IVQAHNPPGR LAPVTLSLSG GDPRGLFSLD
   841  AVSGLLQTLR PLDRELLGPV LELEVRAGSG VPPAFAVARV RVLLDDVNDN SPAFPAPEDT
   901  VLLPPNTAPG TPIYTLRALD PDSGVNSRVT FTLLAGGGGA FTVDPTTGHV RLMRPLGPSG
   961  GPAHELELEA RDGGSPPRTS HFRLRVVVQD VGTRGLAPRF NSPTYRVDLP SGTTAGTQVL
  1021  QVQAQAPDGG PITYHLAAEG ASSPFGLEPQ SGWLWVRAAL DREAQELYIL KVMAVSGSKA
  1081  ELGQQTGTAT VRVSILNQNE HSPRLSEDPT FLAVAENQPP GTSVGRVFAT DRDSGPNGRL
  1141  TYSLQQLSED SKAFRIHPQT GEVTTLQTLD REQQSSYQLL VQVQDGGSPP RSTTGTVHVA
  1201  VLDLNDNSPT FLQASGAAGG GLPIQVPDRV PPGTLVTTLQ AKDPDEGENG TILYTLTGPG
  1261  SELFSLHPHS GELLTAAPLI RAERPHYVLT LSAHDQGSPP RSASLQLLVQ VLPSARLAEP
  1321  PPDLAERDPA APVPVVLTVT AAEGLRPGSL LGSVAAPEPA GVGALTYTLV GGADPEGTFA
  1381  LDAASGRLYL ARPLDFEAGP PWRALTVRAE GPGGAGARLL RVQVQVQDEN EHAPAFARDP
  1441  LALALPENPE PGAALYTFRA SDADGPGPNS DVRYRLLRQE PPVPALRLDA RTGALSAPRG
  1501  LDRETTPALL LLVEATDRPA NASRRRAARV SARVFVTDEN DNAPVFASPS RVRLPEDQPP
  1561  GPAALHVVAR DPDLGEAARV SYRLASGGDG HFRLHSSTGA LSVVRPLDRE QRAEHVLTVV
  1621  ASDHGSPPRS ATQVLTVSVA DVNDEAPTFQ QQEYSVLLRE NNPPGTSLLT LRATDPDVGA
  1681  NGQVTYGGVS SESFSLDPDT GVLTTLRALD REEQEEINLT VYAQDRGSPP QLTHVTVRVA
  1741  VEDENDHAPT FGSAHLSLEV PEGQDPQTLT MLRASDPDVG ANGQLQYRIL DGDPSGAFVL
  1801  DLASGEFGTM RPLDREVEPA FQLRIEARDG GQPALSATLL LTVTVLDAND HAPAFPVPAY
  1861  SVEVPEDVPA GTLLLQLQAH DPDAGANGHV TYYLGAGTAG AFLLEPSSGE LRTAAALDRE
  1921  QCPSYTFSVS AVDGAAAGPL STTVSVTITV RDVNDHAPTF PTSPLRLRLP RPGPSFSTPT
  1981  LALATLRAED RDAGANASIL YRLAGTPPPG TTVDSYTGEI RVARSPVALG PRDRVLFIVA
  2041  TDLGRPARSA TGVIIVGLQG EAERGPRFPR ASSEATIREN APPGTPIVSP RAVHAGGTNG
  2101  PITYSILSGN EKGTFSIQPS TGAITVRSAE GLDFEVSPRL RLVLQAESGG AFAFTVLTLT
  2161  LQDANDNAPR FLRPHYVAFL PESRPLEGPL LQVEADDLDQ GSGGQISYSL AASQPARGLF
  2221  HVDPTTGTIT TTAILDREIW AETRLVLMAT DRGSPALVGS ATLTVMVIDT NDNRPTIPQP
  2281  WELRVSEDAL LGSEIAQVTG NDVDSGPVLW YVLSPSGPQD PFSVGRYGGR VSLTGPLDFE
  2341  QCDRYQLQLL AHDGPHEGRA NLTVLVEDVN DNAPAFSQSL YQVMLLEHTP PGSAILSVSA
  2401  TDRDSGANGH ISYHLASPAD GFSVDPNNGT LFTIVGTVAL GHDGSGAVDV VLEARDHGAP
  2461  GRAARATVHV QLQDQNDHAP SFTLSHYRVA VTEDLPPGST LLTLEATDAD GSRSHAAVDY
  2521  SIISGNWGRV FQLEPRLAEA GESAGPGPRA LGCLVLLEPL DFESLTQYNL TVAAADRGQP
  2581  PQSSVVPVTV TVLDVNDNPP VFTRASYRVT VPEDTPVGAE LLHVEASDAD PGPHGLVRFT
  2641  VSSGDPSGLF ELDESSGTLR LAHALDCETQ ARHQLVVQAA DPAGAHFALA PVTIEVQDVN
  2701  DHGPAFPLNL LSTSVAENQP PGTLVTTLHA IDGDAGAFGR LRYSLLEAGP GPEGREAFAL
  2761  NSSTGELRAR VPFDYEHTES FRLLVGAADA GNLSASVTVS VLVTGEDEYD PVFLAPAFHF
  2821  QVPEGARRGH SLGHVQATDE DGGADGLVLY SLATSSPYFG INQTTGALYL RVDSRAPGSG
  2881  TATSGGGGRT RREAPRELRL EVIARGPLPG SRSATVPVTV DITHTALGLA PDLNLLLVGA
  2941  VAASLGVVVV LALAALVLGL VRARSRKAEA APGPMSQAAP LASDSLQKLG REPPSPPPSE
  3001  HLYHQTLPSY GGPGAGGPYP RGGSLDPSHS SGRGSAEAAE DDEIRMINEF PRVASVASSL
  3061  AARGPDSGIQ QDADGLSDTS CEPPAPDTWY KGRKAGLLLP GAGATLYREE GPPATATAFL
  3121  GGCGLSPAPT GDYGFPADGK PCVAGALTAI VAGEEELRGS YNWDYLLSWC PQFQPLASVF
  3181  TEIARLKDEA RPCPPAPRID PPPLITAVAH PGAKSVPPKP ANTAAARAIF PPASHRSPIS
  3241  HEGSLSSAAM SPSFSPSLSP LAARSPVVSP FGVAQGPSAS ALSAESGLEP PDDTELHI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DCHS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0

Highest tissue expression

27 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DCHS1.

Disease | AllUniProt

Conditions DCHS1 is implicated in, by any mechanism.

• Van Maldergem syndrome 1 (VMLDS1) MIM:601390
• Mitral valve prolapse 2 (MVP2) MIM:607829

Disease | GeneticClinVar

41 pathogenic / likely-pathogenic of 2,636 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Van Maldergem syndrome 1
• Mitral valve prolapse, myxomatous 2
• DCHS1-Related Disorders
• Fetal anomalies with a likely genetic cause

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.24

gnomAD pLI

1

gnomAD missense Z

2.4

DepMap mean gene effect

-0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• branching involved in ureteric bud morphogenesis
• calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
• cell migration
• cell migration involved in endocardial cushion formation
• cell-cell adhesion via plasma-membrane adhesion molecules
• cochlea development
• condensed mesenchymal cell proliferation
• digestive tract development
• gene expression
• heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules
• hippo signaling
• homophilic cell adhesion via plasma membrane adhesion molecules
• mitral valve formation
• neural tube development
• neurogenesis
• ossification involved in bone maturation
• pattern specification process
• post-anal tail morphogenesis
• protein localization to plasma membrane
• septin cytoskeleton organization

Molecular functions

• beta-catenin binding
• cadherin binding
• calcium ion binding

Cellular components

• apical part of cell
• catenin complex
• membrane

Protein domainsUniProt · Pfam · InterPro

• Cadherin-like
• Cadherin-like superfamily
• Cadherin conserved site
• Cadherin domain-containing protein
• Cadherin domain

KeywordsUniProt

• Calcium
• Cell adhesion
• Cell membrane
• Deafness
• Glycoprotein
• Intellectual disability
• Membrane
• Phosphoprotein
• Repeat
• Signal
• Transmembrane
• Transmembrane helix