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UniProtKB - P55291 (CAD15_HUMAN)

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Protein

Cadherin-15

Gene

CDH15

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCell adhesion
LigandCalcium, Metal-binding

Enzyme and pathway databases

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000129910.7
HGNCiHGNC:1754 CDH15
MIMi114019 gene
neXtProtiNX_P55291

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

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

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 dbSNP:rs567903921Ensembl.1
Natural variantiVAR_05496760R → C in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 PublicationCorresponds to variant dbSNP:rs121434539EnsemblClinVar.1
Natural variantiVAR_05496892R → W in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 PublicationCorresponds to variant dbSNP:rs121434540EnsemblClinVar.1
Natural variantiVAR_054969122A → V in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 PublicationCorresponds to variant dbSNP:rs121434541EnsemblClinVar.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...) asparagineSequence analysis1
Glycosylationi531N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi538N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi576N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Cleavage on pair of basic residues, Glycoprotein

Proteomic databases

EPDiP55291
PaxDbiP55291
PeptideAtlasiP55291
PRIDEiP55291
ProteomicsDBi56843

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, 7 interactors
IntActiP55291, 3 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

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

Gene3Di4.10.900.10, 1 hit
InterProiView protein in InterPro
IPR002126 Cadherin
IPR015919 Cadherin-like
IPR020894 Cadherin_CS
IPR000233 Cadherin_cytoplasmic-dom
IPR027397 Catenin_binding_dom_sf
PfamiView protein in Pfam
PF00028 Cadherin, 4 hits
PF01049 Cadherin_C, 1 hit
PRINTSiPR00205 CADHERIN
SMARTiView protein in SMART
SM00112 CA, 4 hits
SUPFAMiSSF49313 SSF49313, 5 hits
PROSITEiView protein in PROSITE
PS00232 CADHERIN_1, 2 hits
PS50268 CADHERIN_2, 5 hits

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 dbSNP:rs567903921Ensembl.1
Natural variantiVAR_05496760R → C in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 PublicationCorresponds to variant dbSNP:rs121434539EnsemblClinVar.1
Natural variantiVAR_05496892R → W in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 PublicationCorresponds to variant dbSNP:rs121434540EnsemblClinVar.1
Natural variantiVAR_054969122A → V in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 PublicationCorresponds to variant dbSNP:rs121434541EnsemblClinVar.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

Similar proteinsi

Entry informationi

Entry nameiCAD15_HUMAN
AccessioniPrimary (citable) accession number: P55291
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: July 18, 2018
This is version 162 of the entry and version 1 of the sequence. See 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

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