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Q96JQ0

- PCD16_HUMAN

UniProt

Q96JQ0 - PCD16_HUMAN

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Protein

Protocadherin-16

Gene
DCHS1, CDH19, CDH25, FIB1, KIAA1773, PCDH16
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

GO - Molecular functioni

  1. calcium ion binding Source: InterPro

GO - Biological processi

  1. calcium-dependent cell-cell adhesion Source: UniProtKB
  2. heterophilic cell-cell adhesion Source: UniProtKB
  3. hippo signaling Source: UniProtKB
  4. homophilic cell adhesion Source: InterPro
  5. neurogenesis Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium

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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:13681. DCHS1.

Subcellular locationi

Cell membrane; Single-pass type I membrane protein By similarity
Note: In the embryonic cortex, FAT4 and DCHS1 accumulated at the cell-cell boundaries located apical to the adherens junction By similarity.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini43 – 29402898Extracellular Reviewed predictionAdd
BLAST
Transmembranei2941 – 296121Helical; Reviewed predictionAdd
BLAST
Topological domaini2962 – 3298337Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. membrane Source: UniProtKB
  3. plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2370 – 23701N → I in VMLDS1. 1 Publication
VAR_070928

Keywords - Diseasei

Deafness, Disease mutation, Mental retardation

Organism-specific databases

MIMi601390. phenotype.
Orphaneti314679. Cerebro-facio-articular syndrome.
PharmGKBiPA33000.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 4242 Reviewed predictionAdd
BLAST
Chaini43 – 32983256Protocadherin-16PRO_0000004000Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi217 – 2171N-linked (GlcNAc...) Reviewed prediction
Glycosylationi256 – 2561N-linked (GlcNAc...) Reviewed prediction
Glycosylationi402 – 4021N-linked (GlcNAc...) Reviewed prediction
Glycosylationi584 – 5841N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1249 – 12491N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1521 – 15211N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1718 – 17181N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1996 – 19961N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2361 – 23611N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2428 – 24281N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2569 – 25691N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2761 – 27611N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2792 – 27921N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2862 – 28621N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ96JQ0.
PRIDEiQ96JQ0.

PTM databases

PhosphoSiteiQ96JQ0.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ96JQ0.
CleanExiHS_CDH19.
HS_DCHS1.
GenevestigatoriQ96JQ0.

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. 2 interactions.
IntActiQ96JQ0. 2 interactions.
STRINGi9606.ENSP00000299441.

Structurei

3D structure databases

ProteinModelPortaliQ96JQ0.
SMRiQ96JQ0. Positions 56-2923.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini43 – 143101Cadherin 1Add
BLAST
Domaini144 – 255112Cadherin 2Add
BLAST
Domaini256 – 362107Cadherin 3Add
BLAST
Domaini367 – 472106Cadherin 4Add
BLAST
Domaini474 – 578105Cadherin 5Add
BLAST
Domaini579 – 685107Cadherin 6Add
BLAST
Domaini686 – 790105Cadherin 7Add
BLAST
Domaini791 – 894104Cadherin 8Add
BLAST
Domaini895 – 1000106Cadherin 9Add
BLAST
Domaini1001 – 1111111Cadherin 10Add
BLAST
Domaini1112 – 1211100Cadherin 11Add
BLAST
Domaini1218 – 1324107Cadherin 12Add
BLAST
Domaini1333 – 1436104Cadherin 13Add
BLAST
Domaini1437 – 1546110Cadherin 14Add
BLAST
Domaini1547 – 1649103Cadherin 15Add
BLAST
Domaini1650 – 1751102Cadherin 16Add
BLAST
Domaini1752 – 1855104Cadherin 17Add
BLAST
Domaini1856 – 1960105Cadherin 18Add
BLAST
Domaini1965 – 2068104Cadherin 19Add
BLAST
Domaini2069 – 2171103Cadherin 20Add
BLAST
Domaini2172 – 2277106Cadherin 21Add
BLAST
Domaini2278 – 237699Cadherin 22Add
BLAST
Domaini2377 – 2482106Cadherin 23Add
BLAST
Domaini2483 – 2602120Cadherin 24Add
BLAST
Domaini2603 – 2706104Cadherin 25Add
BLAST
Domaini2707 – 2813107Cadherin 26Add
BLAST
Domaini2814 – 2933120Cadherin 27Add
BLAST

Sequence similaritiesi

Contains 27 cadherin domains.

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG12793.
HOGENOMiHOG000115466.
HOVERGENiHBG053522.
InParanoidiQ96JQ0.
KOiK16507.
OMAiLYQVMLL.
OrthoDBiEOG75TM9Z.
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

MQKELGIVPS CPGMKSPRPH LLLPLLLLLL LLLGAGVPGA WGQAGSLDLQ     50
IDEEQPAGTL IGDISAGLPA GTAAPLMYFI SAQEGSGVGT DLAIDEHSGV 100
VRTARVLDRE QRDRYRFTAV TPDGATVEVT VRVADINDHA PAFPQARAAL 150
QVPEHTAFGT RYPLEPARDA DAGRLGTQGY ALSGDGAGET FRLETRPGPD 200
GTPVPELVVT GELDRENRSH YMLQLEAYDG GSPPRRAQAL LDVTLLDIND 250
HAPAFNQSRY HAVVSESLAP GSPVLQVFAS DADAGVNGAV TYEINRRQSE 300
GDGPFSIDAH TGLLQLERPL DFEQRRVHEL VVQARDGGAH PELGSAFVTV 350
HVRDANDNQP SMTVIFLSAD GSPQVSEAAP PGQLVARISV SDPDDGDFAH 400
VNVSLEGGEG HFALSTQDSV IYLVCVARRL DREERDAYNL RVTATDSGSP 450
PLRAEAAFVL HVTDVNDNAP AFDRQLYRPE PLPEVALPGS FVVRVTARDP 500
DQGTNGQVTY SLAPGAHTHW FSIDPTSGII TTAASLDYEL EPQPQLIVVA 550
TDGGLPPLAS SATVSVALQD VNDNEPQFQR TFYNASLPEG TQPGTCFLQV 600
TATDADSGPF GLLSYSLGAG LGSSGSPPFR IDAHSGDVCT TRTLDRDQGP 650
SSFDFTVTAV DGGGLKSMVY VKVFLSDEND NPPQFYPREY AASISAQSPP 700
GTAVLRLRAH DPDQGSHGRL SYHILAGNSP PLFTLDEQSG LLTVAWPLAR 750
RANSVVQLEI GAEDGGGLQA EPSARVDISI VPGTPTPPIF EQLQYVFSVP 800
EDVAPGTSVG IVQAHNPPGR LAPVTLSLSG GDPRGLFSLD AVSGLLQTLR 850
PLDRELLGPV LELEVRAGSG VPPAFAVARV RVLLDDVNDN SPAFPAPEDT 900
VLLPPNTAPG TPIYTLRALD PDSGVNSRVT FTLLAGGGGA FTVDPTTGHV 950
RLMRPLGPSG GPAHELELEA RDGGSPPRTS HFRLRVVVQD VGTRGLAPRF 1000
NSPTYRVDLP SGTTAGTQVL QVQAQAPDGG PITYHLAAEG ASSPFGLEPQ 1050
SGWLWVRAAL DREAQELYIL KVMAVSGSKA ELGQQTGTAT VRVSILNQNE 1100
HSPRLSEDPT FLAVAENQPP GTSVGRVFAT DRDSGPNGRL TYSLQQLSED 1150
SKAFRIHPQT GEVTTLQTLD REQQSSYQLL VQVQDGGSPP RSTTGTVHVA 1200
VLDLNDNSPT FLQASGAAGG GLPIQVPDRV PPGTLVTTLQ AKDPDEGENG 1250
TILYTLTGPG SELFSLHPHS GELLTAAPLI RAERPHYVLT LSAHDQGSPP 1300
RSASLQLLVQ VLPSARLAEP PPDLAERDPA APVPVVLTVT AAEGLRPGSL 1350
LGSVAAPEPA GVGALTYTLV GGADPEGTFA LDAASGRLYL ARPLDFEAGP 1400
PWRALTVRAE GPGGAGARLL RVQVQVQDEN EHAPAFARDP LALALPENPE 1450
PGAALYTFRA SDADGPGPNS DVRYRLLRQE PPVPALRLDA RTGALSAPRG 1500
LDRETTPALL LLVEATDRPA NASRRRAARV SARVFVTDEN DNAPVFASPS 1550
RVRLPEDQPP GPAALHVVAR DPDLGEAARV SYRLASGGDG HFRLHSSTGA 1600
LSVVRPLDRE QRAEHVLTVV ASDHGSPPRS ATQVLTVSVA DVNDEAPTFQ 1650
QQEYSVLLRE NNPPGTSLLT LRATDPDVGA NGQVTYGGVS SESFSLDPDT 1700
GVLTTLRALD REEQEEINLT VYAQDRGSPP QLTHVTVRVA VEDENDHAPT 1750
FGSAHLSLEV PEGQDPQTLT MLRASDPDVG ANGQLQYRIL DGDPSGAFVL 1800
DLASGEFGTM RPLDREVEPA FQLRIEARDG GQPALSATLL LTVTVLDAND 1850
HAPAFPVPAY SVEVPEDVPA GTLLLQLQAH DPDAGANGHV TYYLGAGTAG 1900
AFLLEPSSGE LRTAAALDRE QCPSYTFSVS AVDGAAAGPL STTVSVTITV 1950
RDVNDHAPTF PTSPLRLRLP RPGPSFSTPT LALATLRAED RDAGANASIL 2000
YRLAGTPPPG TTVDSYTGEI RVARSPVALG PRDRVLFIVA TDLGRPARSA 2050
TGVIIVGLQG EAERGPRFPR ASSEATIREN APPGTPIVSP RAVHAGGTNG 2100
PITYSILSGN EKGTFSIQPS TGAITVRSAE GLDFEVSPRL RLVLQAESGG 2150
AFAFTVLTLT LQDANDNAPR FLRPHYVAFL PESRPLEGPL LQVEADDLDQ 2200
GSGGQISYSL AASQPARGLF HVDPTTGTIT TTAILDREIW AETRLVLMAT 2250
DRGSPALVGS ATLTVMVIDT NDNRPTIPQP WELRVSEDAL LGSEIAQVTG 2300
NDVDSGPVLW YVLSPSGPQD PFSVGRYGGR VSLTGPLDFE QCDRYQLQLL 2350
AHDGPHEGRA NLTVLVEDVN DNAPAFSQSL YQVMLLEHTP PGSAILSVSA 2400
TDRDSGANGH ISYHLASPAD GFSVDPNNGT LFTIVGTVAL GHDGSGAVDV 2450
VLEARDHGAP GRAARATVHV QLQDQNDHAP SFTLSHYRVA VTEDLPPGST 2500
LLTLEATDAD GSRSHAAVDY SIISGNWGRV FQLEPRLAEA GESAGPGPRA 2550
LGCLVLLEPL DFESLTQYNL TVAAADRGQP PQSSVVPVTV TVLDVNDNPP 2600
VFTRASYRVT VPEDTPVGAE LLHVEASDAD PGPHGLVRFT VSSGDPSGLF 2650
ELDESSGTLR LAHALDCETQ ARHQLVVQAA DPAGAHFALA PVTIEVQDVN 2700
DHGPAFPLNL LSTSVAENQP PGTLVTTLHA IDGDAGAFGR LRYSLLEAGP 2750
GPEGREAFAL NSSTGELRAR VPFDYEHTES FRLLVGAADA GNLSASVTVS 2800
VLVTGEDEYD PVFLAPAFHF QVPEGARRGH SLGHVQATDE DGGADGLVLY 2850
SLATSSPYFG INQTTGALYL RVDSRAPGSG TATSGGGGRT RREAPRELRL 2900
EVIARGPLPG SRSATVPVTV DITHTALGLA PDLNLLLVGA VAASLGVVVV 2950
LALAALVLGL VRARSRKAEA APGPMSQAAP LASDSLQKLG REPPSPPPSE 3000
HLYHQTLPSY GGPGAGGPYP RGGSLDPSHS SGRGSAEAAE DDEIRMINEF 3050
PRVASVASSL AARGPDSGIQ QDADGLSDTS CEPPAPDTWY KGRKAGLLLP 3100
GAGATLYREE GPPATATAFL GGCGLSPAPT GDYGFPADGK PCVAGALTAI 3150
VAGEEELRGS YNWDYLLSWC PQFQPLASVF TEIARLKDEA RPCPPAPRID 3200
PPPLITAVAH PGAKSVPPKP ANTAAARAIF PPASHRSPIS HEGSLSSAAM 3250
SPSFSPSLSP LAARSPVVSP FGVAQGPSAS ALSAESGLEP PDDTELHI 3298
Length:3,298
Mass (Da):346,181
Last modified:December 1, 2001 - v1
Checksum:i6EE8D28BEF0795DB
GO

Sequence cautioni

The sequence BAB61903.2 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1583 – 15831R → W in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036110
Natural varianti1949 – 19491T → M.
Corresponds to variant rs4758443 [ dbSNP | Ensembl ].
VAR_048577
Natural varianti2172 – 21721L → Q.
Corresponds to variant rs56920123 [ dbSNP | Ensembl ].
VAR_061074
Natural varianti2331 – 23311V → I.
Corresponds to variant rs7924553 [ dbSNP | Ensembl ].
VAR_048578
Natural varianti2359 – 23591R → C.
Corresponds to variant rs2659875 [ dbSNP | Ensembl ].
VAR_048579
Natural varianti2370 – 23701N → I in VMLDS1. 1 Publication
VAR_070928

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.1. human.

Polymorphism databases

DMDMi20139065.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB053446 mRNA. Translation: BAB61903.2 . Different initiation.
AB000895 mRNA. Translation: BAA21133.1 .
CCDSi CCDS7771.1.
PIRi PC4297.
RefSeqi NP_003728.1. NM_003737.3.
UniGenei Hs.199850.

3D structure databases

ProteinModelPortali Q96JQ0.
SMRi Q96JQ0. Positions 56-2923.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114194. 2 interactions.
IntActi Q96JQ0. 2 interactions.
STRINGi 9606.ENSP00000299441.

PTM databases

PhosphoSitei Q96JQ0.

Polymorphism databases

DMDMi 20139065.

Proteomic databases

PaxDbi Q96JQ0.
PRIDEi Q96JQ0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000299441 ; ENSP00000299441 ; ENSG00000166341 .
GeneIDi 8642.
KEGGi hsa:8642.
UCSCi uc001mem.1. human.

Organism-specific databases

CTDi 8642.
GeneCardsi GC11M006642.
HGNCi HGNC:13681. DCHS1.
HPAi HPA017970.
HPA050246.
MIMi 601390. phenotype.
603057. gene.
neXtProti NX_Q96JQ0.
Orphaneti 314679. Cerebro-facio-articular syndrome.
PharmGKBi PA33000.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG12793.
HOGENOMi HOG000115466.
HOVERGENi HBG053522.
InParanoidi Q96JQ0.
KOi K16507.
OMAi LYQVMLL.
OrthoDBi EOG75TM9Z.
PhylomeDBi Q96JQ0.
TreeFami TF316403.

Miscellaneous databases

GeneWikii DCHS1.
GenomeRNAii 8642.
NextBioi 32399.
PROi Q96JQ0.
SOURCEi Search...

Gene expression databases

Bgeei Q96JQ0.
CleanExi HS_CDH19.
HS_DCHS1.
Genevestigatori Q96JQ0.

Family and domain databases

Gene3Di 2.60.40.60. 27 hits.
InterProi IPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
[Graphical view ]
Pfami PF00028. Cadherin. 23 hits.
[Graphical view ]
PRINTSi PR00205. CADHERIN.
SMARTi SM00112. CA. 27 hits.
[Graphical view ]
SUPFAMi SSF49313. SSF49313. 27 hits.
PROSITEi PS00232. CADHERIN_1. 18 hits.
PS50268. CADHERIN_2. 27 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs."
    Nakajima D., Nakayama M., Kikuno R., Hirosawa M., Nagase T., Ohara O.
    Brain Res. Mol. Brain Res. 94:85-95(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Brain.
  2. Nakajima D., Nakayama M., Kikuno R., Nagase T., Ohara O.
    Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  3. "Multiple cadherins are expressed in human fibroblasts."
    Matsuyoshi N., Imamura S.
    Biochem. Biophys. Res. Commun. 235:355-358(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 434-570, TISSUE SPECIFICITY.
  4. Cited for: VARIANT [LARGE SCALE ANALYSIS] TRP-1583.
  5. Cited for: VARIANT VMLDS1 ILE-2370.

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: July 9, 2014
This is version 112 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

External Data

Dasty 3

Similar proteinsi