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Protein

Protocadherin-16

Gene

DCHS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000166341-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protocadherin-16
Alternative name(s):
Cadherin-19
Cadherin-25
Fibroblast cadherin-1
Protein dachsous homolog 1
Gene namesi
Name:DCHS1
Synonyms:CDH19, CDH25, FIB1, KIAA1773, PCDH16
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:13681. DCHS1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini43 – 2940ExtracellularSequence analysisAdd BLAST2898
Transmembranei2941 – 2961HelicalSequence analysisAdd BLAST21
Topological domaini2962 – 3298CytoplasmicSequence analysisAdd BLAST337

GO - Cellular componenti

  • apical part of cell Source: Ensembl
  • integral component of membrane Source: UniProtKB-KW
  • intracellular Source: GOC
  • membrane Source: UniProtKB
  • plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Van Maldergem syndrome 1 (VMLDS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:601390
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0709282370N → I in VMLDS1. 1 PublicationCorresponds to variant rs483352919dbSNPEnsembl.1
Mitral valve prolapse 2 (MVP2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:607829
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075048197P → L Probable neutral polymorphism; found in a MVP2 patient also carrying pathogenic mutation H-2513; has no significant effect on protein levels. 1 PublicationCorresponds to variant rs145099391dbSNPEnsembl.1
Natural variantiVAR_0750492330R → C in MVP2; loss-of-function mutation; results in reduced protein levels; results in increased protein degradation. 1 PublicationCorresponds to variant rs768737101dbSNPEnsembl.1
Natural variantiVAR_0750502513R → H in MVP2; the patient also carries L-197; loss-of-function mutation; results in reduced protein levels; results in increased protein degradation. 1 PublicationCorresponds to variant rs201457110dbSNPEnsembl.1

Keywords - Diseasei

Deafness, Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi8642.
MalaCardsiDCHS1.
MIMi601390. phenotype.
607829. phenotype.
OpenTargetsiENSG00000166341.
Orphaneti314679. Cerebro-facio-articular syndrome.
PharmGKBiPA33000.

Polymorphism and mutation databases

BioMutaiDCHS1.
DMDMi20139065.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 42Sequence analysisAdd BLAST42
ChainiPRO_000000400043 – 3298Protocadherin-16Add BLAST3256

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi217N-linked (GlcNAc...)Sequence analysis1
Glycosylationi256N-linked (GlcNAc...)Sequence analysis1
Glycosylationi402N-linked (GlcNAc...)Sequence analysis1
Glycosylationi584N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1249N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1521N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1718N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1996N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2361N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2428N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2569N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2761N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2792N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2862N-linked (GlcNAc...)Sequence analysis1
Modified residuei3055PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ96JQ0.
PaxDbiQ96JQ0.
PeptideAtlasiQ96JQ0.
PRIDEiQ96JQ0.

PTM databases

iPTMnetiQ96JQ0.
PhosphoSitePlusiQ96JQ0.

Expressioni

Tissue specificityi

Expressed in fibroblasts but not in melanocytes or keratinocytes.1 Publication

Gene expression databases

BgeeiENSG00000166341.
CleanExiHS_CDH19.
HS_DCHS1.
GenevisibleiQ96JQ0. HS.

Organism-specific databases

HPAiHPA017970.
HPA050246.

Interactioni

Subunit structurei

Heterophilic interaction with FAT4; this interaction affects their respective protein levels.By similarity

Protein-protein interaction databases

BioGridi114194. 4 interactors.
IntActiQ96JQ0. 2 interactors.
STRINGi9606.ENSP00000299441.

Structurei

3D structure databases

ProteinModelPortaliQ96JQ0.
SMRiQ96JQ0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini43 – 143Cadherin 1PROSITE-ProRule annotationAdd BLAST101
Domaini144 – 255Cadherin 2PROSITE-ProRule annotationAdd BLAST112
Domaini256 – 362Cadherin 3PROSITE-ProRule annotationAdd BLAST107
Domaini367 – 472Cadherin 4PROSITE-ProRule annotationAdd BLAST106
Domaini474 – 578Cadherin 5PROSITE-ProRule annotationAdd BLAST105
Domaini579 – 685Cadherin 6PROSITE-ProRule annotationAdd BLAST107
Domaini686 – 790Cadherin 7PROSITE-ProRule annotationAdd BLAST105
Domaini791 – 894Cadherin 8PROSITE-ProRule annotationAdd BLAST104
Domaini895 – 1000Cadherin 9PROSITE-ProRule annotationAdd BLAST106
Domaini1001 – 1111Cadherin 10PROSITE-ProRule annotationAdd BLAST111
Domaini1112 – 1211Cadherin 11PROSITE-ProRule annotationAdd BLAST100
Domaini1218 – 1324Cadherin 12PROSITE-ProRule annotationAdd BLAST107
Domaini1333 – 1436Cadherin 13PROSITE-ProRule annotationAdd BLAST104
Domaini1437 – 1546Cadherin 14PROSITE-ProRule annotationAdd BLAST110
Domaini1547 – 1649Cadherin 15PROSITE-ProRule annotationAdd BLAST103
Domaini1650 – 1751Cadherin 16PROSITE-ProRule annotationAdd BLAST102
Domaini1752 – 1855Cadherin 17PROSITE-ProRule annotationAdd BLAST104
Domaini1856 – 1960Cadherin 18PROSITE-ProRule annotationAdd BLAST105
Domaini1965 – 2068Cadherin 19PROSITE-ProRule annotationAdd BLAST104
Domaini2069 – 2171Cadherin 20PROSITE-ProRule annotationAdd BLAST103
Domaini2172 – 2277Cadherin 21PROSITE-ProRule annotationAdd BLAST106
Domaini2278 – 2376Cadherin 22PROSITE-ProRule annotationAdd BLAST99
Domaini2377 – 2482Cadherin 23PROSITE-ProRule annotationAdd BLAST106
Domaini2483 – 2602Cadherin 24PROSITE-ProRule annotationAdd BLAST120
Domaini2603 – 2706Cadherin 25PROSITE-ProRule annotationAdd BLAST104
Domaini2707 – 2813Cadherin 26PROSITE-ProRule annotationAdd BLAST107
Domaini2814 – 2933Cadherin 27PROSITE-ProRule annotationAdd BLAST120

Sequence similaritiesi

Contains 27 cadherin domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1219. Eukaryota.
ENOG410XPEI. LUCA.
GeneTreeiENSGT00760000118805.
HOGENOMiHOG000115466.
HOVERGENiHBG053522.
InParanoidiQ96JQ0.
KOiK16507.
OMAiFTRASYR.
OrthoDBiEOG091G0028.
PhylomeDBiQ96JQ0.
TreeFamiTF316403.

Family and domain databases

Gene3Di2.60.40.60. 27 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
[Graphical view]
PfamiPF00028. Cadherin. 23 hits.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 27 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 27 hits.
PROSITEiPS00232. CADHERIN_1. 18 hits.
PS50268. CADHERIN_2. 27 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q96JQ0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MQKELGIVPS CPGMKSPRPH LLLPLLLLLL LLLGAGVPGA WGQAGSLDLQ
60 70 80 90 100
IDEEQPAGTL IGDISAGLPA GTAAPLMYFI SAQEGSGVGT DLAIDEHSGV
110 120 130 140 150
VRTARVLDRE QRDRYRFTAV TPDGATVEVT VRVADINDHA PAFPQARAAL
160 170 180 190 200
QVPEHTAFGT RYPLEPARDA DAGRLGTQGY ALSGDGAGET FRLETRPGPD
210 220 230 240 250
GTPVPELVVT GELDRENRSH YMLQLEAYDG GSPPRRAQAL LDVTLLDIND
260 270 280 290 300
HAPAFNQSRY HAVVSESLAP GSPVLQVFAS DADAGVNGAV TYEINRRQSE
310 320 330 340 350
GDGPFSIDAH TGLLQLERPL DFEQRRVHEL VVQARDGGAH PELGSAFVTV
360 370 380 390 400
HVRDANDNQP SMTVIFLSAD GSPQVSEAAP PGQLVARISV SDPDDGDFAH
410 420 430 440 450
VNVSLEGGEG HFALSTQDSV IYLVCVARRL DREERDAYNL RVTATDSGSP
460 470 480 490 500
PLRAEAAFVL HVTDVNDNAP AFDRQLYRPE PLPEVALPGS FVVRVTARDP
510 520 530 540 550
DQGTNGQVTY SLAPGAHTHW FSIDPTSGII TTAASLDYEL EPQPQLIVVA
560 570 580 590 600
TDGGLPPLAS SATVSVALQD VNDNEPQFQR TFYNASLPEG TQPGTCFLQV
610 620 630 640 650
TATDADSGPF GLLSYSLGAG LGSSGSPPFR IDAHSGDVCT TRTLDRDQGP
660 670 680 690 700
SSFDFTVTAV DGGGLKSMVY VKVFLSDEND NPPQFYPREY AASISAQSPP
710 720 730 740 750
GTAVLRLRAH DPDQGSHGRL SYHILAGNSP PLFTLDEQSG LLTVAWPLAR
760 770 780 790 800
RANSVVQLEI GAEDGGGLQA EPSARVDISI VPGTPTPPIF EQLQYVFSVP
810 820 830 840 850
EDVAPGTSVG IVQAHNPPGR LAPVTLSLSG GDPRGLFSLD AVSGLLQTLR
860 870 880 890 900
PLDRELLGPV LELEVRAGSG VPPAFAVARV RVLLDDVNDN SPAFPAPEDT
910 920 930 940 950
VLLPPNTAPG TPIYTLRALD PDSGVNSRVT FTLLAGGGGA FTVDPTTGHV
960 970 980 990 1000
RLMRPLGPSG GPAHELELEA RDGGSPPRTS HFRLRVVVQD VGTRGLAPRF
1010 1020 1030 1040 1050
NSPTYRVDLP SGTTAGTQVL QVQAQAPDGG PITYHLAAEG ASSPFGLEPQ
1060 1070 1080 1090 1100
SGWLWVRAAL DREAQELYIL KVMAVSGSKA ELGQQTGTAT VRVSILNQNE
1110 1120 1130 1140 1150
HSPRLSEDPT FLAVAENQPP GTSVGRVFAT DRDSGPNGRL TYSLQQLSED
1160 1170 1180 1190 1200
SKAFRIHPQT GEVTTLQTLD REQQSSYQLL VQVQDGGSPP RSTTGTVHVA
1210 1220 1230 1240 1250
VLDLNDNSPT FLQASGAAGG GLPIQVPDRV PPGTLVTTLQ AKDPDEGENG
1260 1270 1280 1290 1300
TILYTLTGPG SELFSLHPHS GELLTAAPLI RAERPHYVLT LSAHDQGSPP
1310 1320 1330 1340 1350
RSASLQLLVQ VLPSARLAEP PPDLAERDPA APVPVVLTVT AAEGLRPGSL
1360 1370 1380 1390 1400
LGSVAAPEPA GVGALTYTLV GGADPEGTFA LDAASGRLYL ARPLDFEAGP
1410 1420 1430 1440 1450
PWRALTVRAE GPGGAGARLL RVQVQVQDEN EHAPAFARDP LALALPENPE
1460 1470 1480 1490 1500
PGAALYTFRA SDADGPGPNS DVRYRLLRQE PPVPALRLDA RTGALSAPRG
1510 1520 1530 1540 1550
LDRETTPALL LLVEATDRPA NASRRRAARV SARVFVTDEN DNAPVFASPS
1560 1570 1580 1590 1600
RVRLPEDQPP GPAALHVVAR DPDLGEAARV SYRLASGGDG HFRLHSSTGA
1610 1620 1630 1640 1650
LSVVRPLDRE QRAEHVLTVV ASDHGSPPRS ATQVLTVSVA DVNDEAPTFQ
1660 1670 1680 1690 1700
QQEYSVLLRE NNPPGTSLLT LRATDPDVGA NGQVTYGGVS SESFSLDPDT
1710 1720 1730 1740 1750
GVLTTLRALD REEQEEINLT VYAQDRGSPP QLTHVTVRVA VEDENDHAPT
1760 1770 1780 1790 1800
FGSAHLSLEV PEGQDPQTLT MLRASDPDVG ANGQLQYRIL DGDPSGAFVL
1810 1820 1830 1840 1850
DLASGEFGTM RPLDREVEPA FQLRIEARDG GQPALSATLL LTVTVLDAND
1860 1870 1880 1890 1900
HAPAFPVPAY SVEVPEDVPA GTLLLQLQAH DPDAGANGHV TYYLGAGTAG
1910 1920 1930 1940 1950
AFLLEPSSGE LRTAAALDRE QCPSYTFSVS AVDGAAAGPL STTVSVTITV
1960 1970 1980 1990 2000
RDVNDHAPTF PTSPLRLRLP RPGPSFSTPT LALATLRAED RDAGANASIL
2010 2020 2030 2040 2050
YRLAGTPPPG TTVDSYTGEI RVARSPVALG PRDRVLFIVA TDLGRPARSA
2060 2070 2080 2090 2100
TGVIIVGLQG EAERGPRFPR ASSEATIREN APPGTPIVSP RAVHAGGTNG
2110 2120 2130 2140 2150
PITYSILSGN EKGTFSIQPS TGAITVRSAE GLDFEVSPRL RLVLQAESGG
2160 2170 2180 2190 2200
AFAFTVLTLT LQDANDNAPR FLRPHYVAFL PESRPLEGPL LQVEADDLDQ
2210 2220 2230 2240 2250
GSGGQISYSL AASQPARGLF HVDPTTGTIT TTAILDREIW AETRLVLMAT
2260 2270 2280 2290 2300
DRGSPALVGS ATLTVMVIDT NDNRPTIPQP WELRVSEDAL LGSEIAQVTG
2310 2320 2330 2340 2350
NDVDSGPVLW YVLSPSGPQD PFSVGRYGGR VSLTGPLDFE QCDRYQLQLL
2360 2370 2380 2390 2400
AHDGPHEGRA NLTVLVEDVN DNAPAFSQSL YQVMLLEHTP PGSAILSVSA
2410 2420 2430 2440 2450
TDRDSGANGH ISYHLASPAD GFSVDPNNGT LFTIVGTVAL GHDGSGAVDV
2460 2470 2480 2490 2500
VLEARDHGAP GRAARATVHV QLQDQNDHAP SFTLSHYRVA VTEDLPPGST
2510 2520 2530 2540 2550
LLTLEATDAD GSRSHAAVDY SIISGNWGRV FQLEPRLAEA GESAGPGPRA
2560 2570 2580 2590 2600
LGCLVLLEPL DFESLTQYNL TVAAADRGQP PQSSVVPVTV TVLDVNDNPP
2610 2620 2630 2640 2650
VFTRASYRVT VPEDTPVGAE LLHVEASDAD PGPHGLVRFT VSSGDPSGLF
2660 2670 2680 2690 2700
ELDESSGTLR LAHALDCETQ ARHQLVVQAA DPAGAHFALA PVTIEVQDVN
2710 2720 2730 2740 2750
DHGPAFPLNL LSTSVAENQP PGTLVTTLHA IDGDAGAFGR LRYSLLEAGP
2760 2770 2780 2790 2800
GPEGREAFAL NSSTGELRAR VPFDYEHTES FRLLVGAADA GNLSASVTVS
2810 2820 2830 2840 2850
VLVTGEDEYD PVFLAPAFHF QVPEGARRGH SLGHVQATDE DGGADGLVLY
2860 2870 2880 2890 2900
SLATSSPYFG INQTTGALYL RVDSRAPGSG TATSGGGGRT RREAPRELRL
2910 2920 2930 2940 2950
EVIARGPLPG SRSATVPVTV DITHTALGLA PDLNLLLVGA VAASLGVVVV
2960 2970 2980 2990 3000
LALAALVLGL VRARSRKAEA APGPMSQAAP LASDSLQKLG REPPSPPPSE
3010 3020 3030 3040 3050
HLYHQTLPSY GGPGAGGPYP RGGSLDPSHS SGRGSAEAAE DDEIRMINEF
3060 3070 3080 3090 3100
PRVASVASSL AARGPDSGIQ QDADGLSDTS CEPPAPDTWY KGRKAGLLLP
3110 3120 3130 3140 3150
GAGATLYREE GPPATATAFL GGCGLSPAPT GDYGFPADGK PCVAGALTAI
3160 3170 3180 3190 3200
VAGEEELRGS YNWDYLLSWC PQFQPLASVF TEIARLKDEA RPCPPAPRID
3210 3220 3230 3240 3250
PPPLITAVAH PGAKSVPPKP ANTAAARAIF PPASHRSPIS HEGSLSSAAM
3260 3270 3280 3290
SPSFSPSLSP LAARSPVVSP FGVAQGPSAS ALSAESGLEP PDDTELHI
Length:3,298
Mass (Da):346,181
Last modified:December 1, 2001 - v1
Checksum:i6EE8D28BEF0795DB
GO

Sequence cautioni

The sequence BAB61903 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075048197P → L Probable neutral polymorphism; found in a MVP2 patient also carrying pathogenic mutation H-2513; has no significant effect on protein levels. 1 PublicationCorresponds to variant rs145099391dbSNPEnsembl.1
Natural variantiVAR_0361101583R → W in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs148882462dbSNPEnsembl.1
Natural variantiVAR_0485771949T → M.Corresponds to variant rs4758443dbSNPEnsembl.1
Natural variantiVAR_0610742172L → Q.Corresponds to variant rs56920123dbSNPEnsembl.1
Natural variantiVAR_0750492330R → C in MVP2; loss-of-function mutation; results in reduced protein levels; results in increased protein degradation. 1 PublicationCorresponds to variant rs768737101dbSNPEnsembl.1
Natural variantiVAR_0485782331V → I.Corresponds to variant rs7924553dbSNPEnsembl.1
Natural variantiVAR_0485792359R → C.Corresponds to variant rs2659875dbSNPEnsembl.1
Natural variantiVAR_0709282370N → I in VMLDS1. 1 PublicationCorresponds to variant rs483352919dbSNPEnsembl.1
Natural variantiVAR_0750502513R → H in MVP2; the patient also carries L-197; loss-of-function mutation; results in reduced protein levels; results in increased protein degradation. 1 PublicationCorresponds to variant rs201457110dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB053446 mRNA. Translation: BAB61903.2. Different initiation.
AB000895 mRNA. Translation: BAA21133.1.
CCDSiCCDS7771.1.
PIRiPC4297.
RefSeqiNP_003728.1. NM_003737.3.
UniGeneiHs.199850.

Genome annotation databases

EnsembliENST00000299441; ENSP00000299441; ENSG00000166341.
GeneIDi8642.
KEGGihsa:8642.
UCSCiuc001mem.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB053446 mRNA. Translation: BAB61903.2. Different initiation.
AB000895 mRNA. Translation: BAA21133.1.
CCDSiCCDS7771.1.
PIRiPC4297.
RefSeqiNP_003728.1. NM_003737.3.
UniGeneiHs.199850.

3D structure databases

ProteinModelPortaliQ96JQ0.
SMRiQ96JQ0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114194. 4 interactors.
IntActiQ96JQ0. 2 interactors.
STRINGi9606.ENSP00000299441.

PTM databases

iPTMnetiQ96JQ0.
PhosphoSitePlusiQ96JQ0.

Polymorphism and mutation databases

BioMutaiDCHS1.
DMDMi20139065.

Proteomic databases

EPDiQ96JQ0.
PaxDbiQ96JQ0.
PeptideAtlasiQ96JQ0.
PRIDEiQ96JQ0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000299441; ENSP00000299441; ENSG00000166341.
GeneIDi8642.
KEGGihsa:8642.
UCSCiuc001mem.3. human.

Organism-specific databases

CTDi8642.
DisGeNETi8642.
GeneCardsiDCHS1.
HGNCiHGNC:13681. DCHS1.
HPAiHPA017970.
HPA050246.
MalaCardsiDCHS1.
MIMi601390. phenotype.
603057. gene.
607829. phenotype.
neXtProtiNX_Q96JQ0.
OpenTargetsiENSG00000166341.
Orphaneti314679. Cerebro-facio-articular syndrome.
PharmGKBiPA33000.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1219. Eukaryota.
ENOG410XPEI. LUCA.
GeneTreeiENSGT00760000118805.
HOGENOMiHOG000115466.
HOVERGENiHBG053522.
InParanoidiQ96JQ0.
KOiK16507.
OMAiFTRASYR.
OrthoDBiEOG091G0028.
PhylomeDBiQ96JQ0.
TreeFamiTF316403.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000166341-MONOMER.

Miscellaneous databases

GeneWikiiDCHS1.
GenomeRNAii8642.
PROiQ96JQ0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000166341.
CleanExiHS_CDH19.
HS_DCHS1.
GenevisibleiQ96JQ0. HS.

Family and domain databases

Gene3Di2.60.40.60. 27 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
[Graphical view]
PfamiPF00028. Cadherin. 23 hits.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 27 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 27 hits.
PROSITEiPS00232. CADHERIN_1. 18 hits.
PS50268. CADHERIN_2. 27 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPCD16_HUMAN
AccessioniPrimary (citable) accession number: Q96JQ0
Secondary accession number(s): O15098
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: December 1, 2001
Last modified: November 2, 2016
This is version 130 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.