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UniProtKB - P55291 (CAD15_HUMAN)
Protein
Cadherin-15
Gene
CDH15
Organism
Homo sapiens (Human)
Status
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
- cadherin binding Source: GO_Central
- calcium ion binding Source: GO_Central
GO - Biological processi
- cell adhesion Source: ProtInc
- cell-cell adhesion via plasma-membrane adhesion molecules Source: GO_Central
- homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
Keywordsi
Biological process | Cell adhesion |
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | P55291 |
Reactomei | R-HSA-418990, Adherens junctions interactions R-HSA-525793, Myogenesis |
SignaLinki | P55291 |
SIGNORi | P55291 |
Names & Taxonomyi
Protein namesi | Recommended name: Cadherin-15Alternative name(s): Cadherin-14 Muscle cadherin Short name: M-cadherin |
Gene namesi | Name:CDH15 Synonyms:CDH14, CDH3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1754, CDH15 |
MIMi | 114019, gene |
neXtProti | NX_P55291 |
VEuPathDBi | HostDB:ENSG00000129910 |
Subcellular locationi
Plasma membrane
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Golgi apparatus
- Golgi apparatus Source: HPA
Plasma Membrane
- catenin complex Source: GO_Central
- caveola Source: Ensembl
- plasma membrane Source: HPA
Other locations
- integral component of membrane Source: UniProtKB-KW
- neuromuscular junction Source: Ensembl
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 61 – 606 | ExtracellularSequence analysisAdd BLAST | 546 | |
Transmembranei | 607 – 626 | HelicalSequence analysisAdd BLAST | 20 | |
Topological domaini | 627 – 814 | CytoplasmicSequence analysisAdd BLAST | 188 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & 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 variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_054966 | 8 | V → L in MRD3; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs567903921Ensembl. | 1 | |
Natural variantiVAR_054967 | 60 | R → C in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 PublicationCorresponds to variant dbSNP:rs121434539EnsemblClinVar. | 1 | |
Natural variantiVAR_054968 | 92 | R → W in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 PublicationCorresponds to variant dbSNP:rs121434540EnsemblClinVar. | 1 | |
Natural variantiVAR_054969 | 122 | A → V in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 PublicationCorresponds to variant dbSNP:rs121434541EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 103 | K → R: No effect on cell-cell adhesion. 1 Publication | 1 | |
Mutagenesisi | 109 | M → T: No effect on cell-cell adhesion. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 1013 |
MalaCardsi | CDH15 |
MIMi | 612580, phenotype |
OpenTargetsi | ENSG00000129910 |
Orphaneti | 178469, Autosomal dominant non-syndromic intellectual disability |
PharmGKBi | PA26288 |
Miscellaneous databases
Pharosi | P55291, Tbio |
Genetic variation databases
BioMutai | CDH15 |
DMDMi | 1705553 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 21 | Sequence analysisAdd BLAST | 21 | |
PropeptideiPRO_0000003805 | 22 – 60 | Sequence analysisAdd BLAST | 39 | |
ChainiPRO_0000003806 | 61 – 814 | Cadherin-15Add BLAST | 754 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 227 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 531 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 538 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 576 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Cleavage on pair of basic residues, GlycoproteinProteomic databases
EPDi | P55291 |
jPOSTi | P55291 |
MassIVEi | P55291 |
PaxDbi | P55291 |
PeptideAtlasi | P55291 |
PRIDEi | P55291 |
ProteomicsDBi | 56843 |
PTM databases
GlyGeni | P55291, 4 sites |
iPTMneti | P55291 |
PhosphoSitePlusi | P55291 |
Expressioni
Tissue specificityi
Expressed in the brain and cerebellum.1 Publication
Gene expression databases
Bgeei | ENSG00000129910, Expressed in right hemisphere of cerebellum and 114 other tissues |
Genevisiblei | P55291, HS |
Organism-specific databases
HPAi | ENSG00000129910, Group enriched (brain, skeletal muscle) |
Interactioni
Binary interactionsi
P55291
With | #Exp. | IntAct |
---|---|---|
SGTA [O43765] | 8 | EBI-10215061,EBI-347996 |
SGTB [Q96EQ0] | 3 | EBI-10215061,EBI-744081 |
UBQLN2 [Q9UHD9] | 3 | EBI-10215061,EBI-947187 |
GO - Molecular functioni
- cadherin binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 107448, 13 interactors |
IntActi | P55291, 3 interactors |
STRINGi | 9606.ENSP00000289746 |
Miscellaneous databases
RNActi | P55291, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 61 – 152 | Cadherin 1PROSITE-ProRule annotationAdd BLAST | 92 | |
Domaini | 153 – 260 | Cadherin 2PROSITE-ProRule annotationAdd BLAST | 108 | |
Domaini | 261 – 375 | Cadherin 3PROSITE-ProRule annotationAdd BLAST | 115 | |
Domaini | 376 – 481 | Cadherin 4PROSITE-ProRule annotationAdd BLAST | 106 | |
Domaini | 482 – 590 | Cadherin 5PROSITE-ProRule annotationAdd BLAST | 109 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 636 – 663 | DisorderedSequence analysisAdd BLAST | 28 | |
Regioni | 676 – 703 | DisorderedSequence analysisAdd BLAST | 28 |
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 helixPhylogenomic databases
eggNOGi | KOG3594, Eukaryota |
GeneTreei | ENSGT00940000160118 |
HOGENOMi | CLU_005284_2_0_1 |
InParanoidi | P55291 |
OMAi | CGRRHHI |
OrthoDBi | 395835at2759 |
PhylomeDBi | P55291 |
TreeFami | TF316817 |
Family and domain databases
Gene3Di | 4.10.900.10, 1 hit |
InterProi | View protein in InterPro IPR039808, Cadherin IPR002126, Cadherin-like_dom IPR015919, Cadherin-like_sf IPR020894, Cadherin_CS IPR000233, Cadherin_cytoplasmic-dom IPR027397, Catenin-bd_sf |
PANTHERi | PTHR24027, PTHR24027, 1 hit |
Pfami | View protein in Pfam PF00028, Cadherin, 4 hits PF01049, Cadherin_C, 1 hit |
PRINTSi | PR00205, CADHERIN |
SMARTi | View protein in SMART SM00112, CA, 4 hits |
SUPFAMi | SSF49313, SSF49313, 5 hits |
PROSITEi | View protein in PROSITE PS00232, CADHERIN_1, 2 hits PS50268, CADHERIN_2, 5 hits |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
P55291-1 [UniParc]FASTAAdd to basket
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_054966 | 8 | V → L in MRD3; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs567903921Ensembl. | 1 | |
Natural variantiVAR_054967 | 60 | R → C in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 PublicationCorresponds to variant dbSNP:rs121434539EnsemblClinVar. | 1 | |
Natural variantiVAR_054968 | 92 | R → W in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 PublicationCorresponds to variant dbSNP:rs121434540EnsemblClinVar. | 1 | |
Natural variantiVAR_054969 | 122 | A → 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 |
CCDSi | CCDS10976.1 |
PIRi | G02878 |
RefSeqi | NP_004924.1, NM_004933.2 |
Genome annotation databases
Ensembli | ENST00000289746; ENSP00000289746; ENSG00000129910 |
GeneIDi | 1013 |
KEGGi | hsa:1013 |
MANE-Selecti | ENST00000289746.3; ENSP00000289746.2; NM_004933.3; NP_004924.1 |
UCSCi | uc002fmt.4, human |
Keywords - Coding sequence diversityi
Chromosomal rearrangementSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D83542 mRNA Translation: BAA12012.1 BC008951 mRNA Translation: AAH08951.1 |
CCDSi | CCDS10976.1 |
PIRi | G02878 |
RefSeqi | NP_004924.1, NM_004933.2 |
3D structure databases
SMRi | P55291 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107448, 13 interactors |
IntActi | P55291, 3 interactors |
STRINGi | 9606.ENSP00000289746 |
PTM databases
GlyGeni | P55291, 4 sites |
iPTMneti | P55291 |
PhosphoSitePlusi | P55291 |
Genetic variation databases
BioMutai | CDH15 |
DMDMi | 1705553 |
Proteomic databases
EPDi | P55291 |
jPOSTi | P55291 |
MassIVEi | P55291 |
PaxDbi | P55291 |
PeptideAtlasi | P55291 |
PRIDEi | P55291 |
ProteomicsDBi | 56843 |
Protocols and materials databases
Antibodypediai | 2417, 322 antibodies from 35 providers |
DNASUi | 1013 |
Genome annotation databases
Ensembli | ENST00000289746; ENSP00000289746; ENSG00000129910 |
GeneIDi | 1013 |
KEGGi | hsa:1013 |
MANE-Selecti | ENST00000289746.3; ENSP00000289746.2; NM_004933.3; NP_004924.1 |
UCSCi | uc002fmt.4, human |
Organism-specific databases
CTDi | 1013 |
DisGeNETi | 1013 |
GeneCardsi | CDH15 |
HGNCi | HGNC:1754, CDH15 |
HPAi | ENSG00000129910, Group enriched (brain, skeletal muscle) |
MalaCardsi | CDH15 |
MIMi | 114019, gene 612580, phenotype |
neXtProti | NX_P55291 |
OpenTargetsi | ENSG00000129910 |
Orphaneti | 178469, Autosomal dominant non-syndromic intellectual disability |
PharmGKBi | PA26288 |
VEuPathDBi | HostDB:ENSG00000129910 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3594, Eukaryota |
GeneTreei | ENSGT00940000160118 |
HOGENOMi | CLU_005284_2_0_1 |
InParanoidi | P55291 |
OMAi | CGRRHHI |
OrthoDBi | 395835at2759 |
PhylomeDBi | P55291 |
TreeFami | TF316817 |
Enzyme and pathway databases
PathwayCommonsi | P55291 |
Reactomei | R-HSA-418990, Adherens junctions interactions R-HSA-525793, Myogenesis |
SignaLinki | P55291 |
SIGNORi | P55291 |
Miscellaneous databases
BioGRID-ORCSi | 1013, 24 hits in 1035 CRISPR screens |
GeneWikii | CDH15 |
GenomeRNAii | 1013 |
Pharosi | P55291, Tbio |
PROi | PR:P55291 |
RNActi | P55291, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000129910, Expressed in right hemisphere of cerebellum and 114 other tissues |
Genevisiblei | P55291, HS |
Family and domain databases
Gene3Di | 4.10.900.10, 1 hit |
InterProi | View protein in InterPro IPR039808, Cadherin IPR002126, Cadherin-like_dom IPR015919, Cadherin-like_sf IPR020894, Cadherin_CS IPR000233, Cadherin_cytoplasmic-dom IPR027397, Catenin-bd_sf |
PANTHERi | PTHR24027, PTHR24027, 1 hit |
Pfami | View protein in Pfam PF00028, Cadherin, 4 hits PF01049, Cadherin_C, 1 hit |
PRINTSi | PR00205, CADHERIN |
SMARTi | View protein in SMART SM00112, CA, 4 hits |
SUPFAMi | SSF49313, SSF49313, 5 hits |
PROSITEi | View protein in PROSITE PS00232, CADHERIN_1, 2 hits PS50268, CADHERIN_2, 5 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | CAD15_HUMAN | |
Accessioni | P55291Primary (citable) accession number: P55291 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | October 1, 1996 | |
Last modified: | February 23, 2022 | |
This is version 183 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot