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Protein

Cadherin-15

Gene

CDH15

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

Functioni

Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. M-cadherin is part of the myogenic program and may provide a trigger for terminal muscle differentiation.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000129910-MONOMER.
ReactomeiR-HSA-375170. CDO in myogenesis.
R-HSA-418990. Adherens junctions interactions.
SIGNORiP55291.

Names & Taxonomyi

Protein namesi
Recommended name:
Cadherin-15
Alternative name(s):
Cadherin-14
Muscle cadherin
Short name:
M-cadherin
Gene namesi
Name:CDH15
Synonyms:CDH14, CDH3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:1754. CDH15.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini61 – 606ExtracellularSequence analysisAdd BLAST546
Transmembranei607 – 626HelicalSequence analysisAdd BLAST20
Topological domaini627 – 814CytoplasmicSequence analysisAdd BLAST188

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving CDH15 and KIRREL3 is found in a patient with severe mental retardation and dysmorphic facial features. Translocation t(11;16)(q24.2;q24).

Mental retardation, autosomal dominant 3 (MRD3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
See also OMIM:612580
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0549668V → L in MRD3; uncertain pathological significance. 1 PublicationCorresponds to variant rs567903921dbSNPEnsembl.1
Natural variantiVAR_05496760R → C in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 PublicationCorresponds to variant rs121434539dbSNPEnsembl.1
Natural variantiVAR_05496892R → W in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 PublicationCorresponds to variant rs121434540dbSNPEnsembl.1
Natural variantiVAR_054969122A → V in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 PublicationCorresponds to variant rs121434541dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi103K → R: No effect on cell-cell adhesion. 1 Publication1
Mutagenesisi109M → T: No effect on cell-cell adhesion. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi1013.
MalaCardsiCDH15.
MIMi612580. phenotype.
OpenTargetsiENSG00000129910.
Orphaneti178469. Autosomal dominant non-syndromic intellectual disability.
PharmGKBiPA26288.

Polymorphism and mutation databases

BioMutaiCDH15.
DMDMi1705553.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
PropeptideiPRO_000000380522 – 60Sequence analysisAdd BLAST39
ChainiPRO_000000380661 – 814Cadherin-15Add BLAST754

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi227N-linked (GlcNAc...)Sequence analysis1
Glycosylationi531N-linked (GlcNAc...)Sequence analysis1
Glycosylationi538N-linked (GlcNAc...)Sequence analysis1
Glycosylationi576N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Cleavage on pair of basic residues, Glycoprotein

Proteomic databases

PaxDbiP55291.
PeptideAtlasiP55291.
PRIDEiP55291.

PTM databases

iPTMnetiP55291.
PhosphoSitePlusiP55291.

Expressioni

Tissue specificityi

Expressed in the brain and cerebellum.1 Publication

Gene expression databases

BgeeiENSG00000129910.
CleanExiHS_CDH15.
HS_CDH3.
GenevisibleiP55291. HS.

Organism-specific databases

HPAiHPA009139.
HPA070961.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
SGTAO437655EBI-10215061,EBI-347996

Protein-protein interaction databases

BioGridi107448. 6 interactors.
IntActiP55291. 2 interactors.
STRINGi9606.ENSP00000289746.

Structurei

3D structure databases

ProteinModelPortaliP55291.
SMRiP55291.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini61 – 152Cadherin 1PROSITE-ProRule annotationAdd BLAST92
Domaini153 – 260Cadherin 2PROSITE-ProRule annotationAdd BLAST108
Domaini261 – 375Cadherin 3PROSITE-ProRule annotationAdd BLAST115
Domaini376 – 481Cadherin 4PROSITE-ProRule annotationAdd BLAST106
Domaini482 – 590Cadherin 5PROSITE-ProRule annotationAdd BLAST109

Domaini

Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.By similarity

Sequence similaritiesi

Contains 5 cadherin domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00760000118906.
HOGENOMiHOG000231254.
HOVERGENiHBG106438.
InParanoidiP55291.
KOiK06809.
OMAiWVARFTI.
OrthoDBiEOG091G02MA.
PhylomeDBiP55291.
TreeFamiTF316817.

Family and domain databases

Gene3Di2.60.40.60. 5 hits.
4.10.900.10. 1 hit.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR000233. Cadherin_cytoplasmic-dom.
IPR027397. Catenin_binding_dom.
[Graphical view]
PfamiPF00028. Cadherin. 4 hits.
PF01049. Cadherin_C. 1 hit.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 4 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 5 hits.
PROSITEiPS00232. CADHERIN_1. 2 hits.
PS50268. CADHERIN_2. 5 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

P55291-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDAAFLLVLG LLAQSLCLSL GVPGWRRPTT LYPWRRAPAL SRVRRAWVIP
60 70 80 90 100
PISVSENHKR LPYPLVQIKS DKQQLGSVIY SIQGPGVDEE PRGVFSIDKF
110 120 130 140 150
TGKVFLNAML DREKTDRFRL RAFALDLGGS TLEDPTDLEI VVVDQNDNRP
160 170 180 190 200
AFLQEAFTGR VLEGAVPGTY VTRAEATDAD DPETDNAALR FSILQQGSPE
210 220 230 240 250
LFSIDELTGE IRTVQVGLDR EVVAVYNLTL QVADMSGDGL TATASAIITL
260 270 280 290 300
DDINDNAPEF TRDEFFMEAI EAVSGVDVGR LEVEDRDLPG SPNWVARFTI
310 320 330 340 350
LEGDPDGQFT IRTDPKTNEG VLSIVKALDY ESCEHYELKV SVQNEAPLQA
360 370 380 390 400
AALRAERGQA KVRVHVQDTN EPPVFQENPL RTSLAEGAPP GTLVATFSAR
410 420 430 440 450
DPDTEQLQRL SYSKDYDPED WLQVDAATGR IQTQHVLSPA SPFLKGGWYR
460 470 480 490 500
AIVLAQDDAS QPRTATGTLS IEILEVNDHA PVLAPPPPGS LCSEPHQGPG
510 520 530 540 550
LLLGATDEDL PPHGAPFHFQ LSPRLPELGR NWSLSQVNVS HARLRPRHQV
560 570 580 590 600
PEGLHRLSLL LRDSGQPPQQ REQPLNVTVC RCGKDGVCLP GAAALLAGGT
610 620 630 640 650
GLSLGALVIV LASALLLLVL VLLVALRARF WKQSRGKGLL HGPQDDLRDN
660 670 680 690 700
VLNYDEQGGG EEDQDAYDIS QLRHPTALSL PLGPPPLRRD APQGRLHPQP
710 720 730 740 750
PRVLPTSPLD IADFINDGLE AADSDPSVPP YDTALIYDYE GDGSVAGTLS
760 770 780 790 800
SILSSQGDED QDYDYLRDWG PRFARLADMY GHPCGLEYGA RWDHQAREGL
810
SPGALLPRHR GRTA
Length:814
Mass (Da):88,916
Last modified:October 1, 1996 - v1
Checksum:i618A817DBF2B3343
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0549668V → L in MRD3; uncertain pathological significance. 1 PublicationCorresponds to variant rs567903921dbSNPEnsembl.1
Natural variantiVAR_05496760R → C in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 PublicationCorresponds to variant rs121434539dbSNPEnsembl.1
Natural variantiVAR_05496892R → W in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 PublicationCorresponds to variant rs121434540dbSNPEnsembl.1
Natural variantiVAR_054969122A → V in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 PublicationCorresponds to variant rs121434541dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D83542 mRNA. Translation: BAA12012.1.
BC008951 mRNA. Translation: AAH08951.1.
CCDSiCCDS10976.1.
PIRiG02878.
RefSeqiNP_004924.1. NM_004933.2.
UniGeneiHs.148090.

Genome annotation databases

EnsembliENST00000289746; ENSP00000289746; ENSG00000129910.
GeneIDi1013.
KEGGihsa:1013.
UCSCiuc002fmt.4. human.

Keywords - Coding sequence diversityi

Chromosomal rearrangement

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D83542 mRNA. Translation: BAA12012.1.
BC008951 mRNA. Translation: AAH08951.1.
CCDSiCCDS10976.1.
PIRiG02878.
RefSeqiNP_004924.1. NM_004933.2.
UniGeneiHs.148090.

3D structure databases

ProteinModelPortaliP55291.
SMRiP55291.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107448. 6 interactors.
IntActiP55291. 2 interactors.
STRINGi9606.ENSP00000289746.

PTM databases

iPTMnetiP55291.
PhosphoSitePlusiP55291.

Polymorphism and mutation databases

BioMutaiCDH15.
DMDMi1705553.

Proteomic databases

PaxDbiP55291.
PeptideAtlasiP55291.
PRIDEiP55291.

Protocols and materials databases

DNASUi1013.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000289746; ENSP00000289746; ENSG00000129910.
GeneIDi1013.
KEGGihsa:1013.
UCSCiuc002fmt.4. human.

Organism-specific databases

CTDi1013.
DisGeNETi1013.
GeneCardsiCDH15.
HGNCiHGNC:1754. CDH15.
HPAiHPA009139.
HPA070961.
MalaCardsiCDH15.
MIMi114019. gene.
612580. phenotype.
neXtProtiNX_P55291.
OpenTargetsiENSG00000129910.
Orphaneti178469. Autosomal dominant non-syndromic intellectual disability.
PharmGKBiPA26288.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00760000118906.
HOGENOMiHOG000231254.
HOVERGENiHBG106438.
InParanoidiP55291.
KOiK06809.
OMAiWVARFTI.
OrthoDBiEOG091G02MA.
PhylomeDBiP55291.
TreeFamiTF316817.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000129910-MONOMER.
ReactomeiR-HSA-375170. CDO in myogenesis.
R-HSA-418990. Adherens junctions interactions.
SIGNORiP55291.

Miscellaneous databases

GeneWikiiCDH15.
GenomeRNAii1013.
PROiP55291.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000129910.
CleanExiHS_CDH15.
HS_CDH3.
GenevisibleiP55291. HS.

Family and domain databases

Gene3Di2.60.40.60. 5 hits.
4.10.900.10. 1 hit.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR000233. Cadherin_cytoplasmic-dom.
IPR027397. Catenin_binding_dom.
[Graphical view]
PfamiPF00028. Cadherin. 4 hits.
PF01049. Cadherin_C. 1 hit.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 4 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 5 hits.
PROSITEiPS00232. CADHERIN_1. 2 hits.
PS50268. CADHERIN_2. 5 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCAD15_HUMAN
AccessioniPrimary (citable) accession number: P55291
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: November 30, 2016
This is version 151 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 16
    Human chromosome 16: 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.