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P55291 (CAD15_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 129. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cadherin-15
Alternative name(s):
Cadherin-14
Muscle cadherin
Short name=M-cadherin
Gene names
Name:CDH15
Synonyms:CDH14, CDH3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length814 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Cell membrane; Single-pass type I membrane protein.

Tissue specificity

Expressed in the brain and cerebellum. Ref.3

Domain

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.

Involvement in disease

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) [MIM:612580]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3

Sequence similarities

Contains 5 cadherin domains.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121 Potential
Propeptide22 – 6039 Potential
PRO_0000003805
Chain61 – 814754Cadherin-15
PRO_0000003806

Regions

Topological domain61 – 606546Extracellular Potential
Transmembrane607 – 62620Helical; Potential
Topological domain627 – 814188Cytoplasmic Potential
Domain61 – 15292Cadherin 1
Domain153 – 260108Cadherin 2
Domain261 – 375115Cadherin 3
Domain376 – 481106Cadherin 4
Domain482 – 590109Cadherin 5

Amino acid modifications

Glycosylation2271N-linked (GlcNAc...) Potential
Glycosylation5311N-linked (GlcNAc...) Potential
Glycosylation5381N-linked (GlcNAc...) Potential
Glycosylation5761N-linked (GlcNAc...) Potential

Natural variations

Natural variant81V → L in MRD3; uncertain pathological significance. Ref.3
VAR_054966
Natural variant601R → C in MRD3; affects cell-cell adhesion but not surface expression of the protein. Ref.3
VAR_054967
Natural variant921R → W in MRD3; affects cell-cell adhesion but not surface expression of the protein. Ref.3
VAR_054968
Natural variant1221A → V in MRD3; affects cell-cell adhesion but not surface expression of the protein. Ref.3
Corresponds to variant rs121434541 [ dbSNP | Ensembl ].
VAR_054969

Experimental info

Mutagenesis1031K → R: No effect on cell-cell adhesion. Ref.3
Mutagenesis1091M → T: No effect on cell-cell adhesion. Ref.3

Sequences

Sequence LengthMass (Da)Tools
P55291 [UniParc].

Last modified October 1, 1996. Version 1.
Checksum: 618A817DBF2B3343

FASTA81488,916
        10         20         30         40         50         60 
MDAAFLLVLG LLAQSLCLSL GVPGWRRPTT LYPWRRAPAL SRVRRAWVIP PISVSENHKR 

        70         80         90        100        110        120 
LPYPLVQIKS DKQQLGSVIY SIQGPGVDEE PRGVFSIDKF TGKVFLNAML DREKTDRFRL 

       130        140        150        160        170        180 
RAFALDLGGS TLEDPTDLEI VVVDQNDNRP AFLQEAFTGR VLEGAVPGTY VTRAEATDAD 

       190        200        210        220        230        240 
DPETDNAALR FSILQQGSPE LFSIDELTGE IRTVQVGLDR EVVAVYNLTL QVADMSGDGL 

       250        260        270        280        290        300 
TATASAIITL DDINDNAPEF TRDEFFMEAI EAVSGVDVGR LEVEDRDLPG SPNWVARFTI 

       310        320        330        340        350        360 
LEGDPDGQFT IRTDPKTNEG VLSIVKALDY ESCEHYELKV SVQNEAPLQA AALRAERGQA 

       370        380        390        400        410        420 
KVRVHVQDTN EPPVFQENPL RTSLAEGAPP GTLVATFSAR DPDTEQLQRL SYSKDYDPED 

       430        440        450        460        470        480 
WLQVDAATGR IQTQHVLSPA SPFLKGGWYR AIVLAQDDAS QPRTATGTLS IEILEVNDHA 

       490        500        510        520        530        540 
PVLAPPPPGS LCSEPHQGPG LLLGATDEDL PPHGAPFHFQ LSPRLPELGR NWSLSQVNVS 

       550        560        570        580        590        600 
HARLRPRHQV PEGLHRLSLL LRDSGQPPQQ REQPLNVTVC RCGKDGVCLP GAAALLAGGT 

       610        620        630        640        650        660 
GLSLGALVIV LASALLLLVL VLLVALRARF WKQSRGKGLL HGPQDDLRDN VLNYDEQGGG 

       670        680        690        700        710        720 
EEDQDAYDIS QLRHPTALSL PLGPPPLRRD APQGRLHPQP PRVLPTSPLD IADFINDGLE 

       730        740        750        760        770        780 
AADSDPSVPP YDTALIYDYE GDGSVAGTLS SILSSQGDED QDYDYLRDWG PRFARLADMY 

       790        800        810 
GHPCGLEYGA RWDHQAREGL SPGALLPRHR GRTA 

« Hide

References

« Hide 'large scale' references
[1]"Identification of human cadherin-14, a novel neurally specific type II cadherin, by protein interaction cloning."
Shibata T., Shimoyama Y., Gotoh M., Hirohashi S.
J. Biol. Chem. 272:5236-5240(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Skeletal muscle.
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Muscle.
[3]"Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability."
Bhalla K., Luo Y., Buchan T., Beachem M.A., Guzauskas G.F., Ladd S., Bratcher S.J., Schroer R.J., Balsamo J., DuPont B.R., Lilien J., Srivastava A.K.
Am. J. Hum. Genet. 83:703-713(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, CHROMOSOMAL TRANSLOCATION WITH KIRREL3, VARIANTS MRD3 LEU-8; CYS-60; TRP-92 AND VAL-122, MUTAGENESIS OF LYS-103 AND MET-109, CHARACTERIZATION OF VARIANTS MRD3 CYS-60; TRP-92 AND VAL-122.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
D83542 mRNA. Translation: BAA12012.1.
BC008951 mRNA. Translation: AAH08951.1.
CCDSCCDS10976.1.
PIRG02878.
RefSeqNP_004924.1. NM_004933.2.
UniGeneHs.148090.

3D structure databases

ProteinModelPortalP55291.
SMRP55291. Positions 47-580, 702-779.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107448. 4 interactions.
STRING9606.ENSP00000289746.

PTM databases

PhosphoSiteP55291.

Polymorphism databases

DMDM1705553.

Proteomic databases

PaxDbP55291.
PeptideAtlasP55291.
PRIDEP55291.

Protocols and materials databases

DNASU1013.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000289746; ENSP00000289746; ENSG00000129910.
GeneID1013.
KEGGhsa:1013.
UCSCuc002fmt.3. human.

Organism-specific databases

CTD1013.
GeneCardsGC16P089238.
HGNCHGNC:1754. CDH15.
HPAHPA009139.
MIM114019. gene.
612580. phenotype.
neXtProtNX_P55291.
Orphanet178469. Autosomal dominant nonsyndromic intellectual disability.
PharmGKBPA26288.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG306443.
HOGENOMHOG000231254.
HOVERGENHBG106438.
InParanoidP55291.
KOK06809.
OMAWVARFTI.
OrthoDBEOG7RJPQM.
PhylomeDBP55291.
TreeFamTF316817.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.
REACT_111155. Cell-Cell communication.

Gene expression databases

BgeeP55291.
CleanExHS_CDH15.
HS_CDH3.
GenevestigatorP55291.

Family and domain databases

Gene3D2.60.40.60. 5 hits.
4.10.900.10. 1 hit.
InterProIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR000233. Cadherin_cytoplasmic-dom.
IPR027397. Catenin_binding_dom.
[Graphical view]
PfamPF00028. Cadherin. 4 hits.
PF01049. Cadherin_C. 1 hit.
[Graphical view]
PRINTSPR00205. CADHERIN.
SMARTSM00112. CA. 4 hits.
[Graphical view]
SUPFAMSSF49313. SSF49313. 5 hits.
PROSITEPS00232. CADHERIN_1. 2 hits.
PS50268. CADHERIN_2. 5 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCDH15.
GenomeRNAi1013.
NextBio4257.
PROP55291.
SOURCESearch...

Entry information

Entry nameCAD15_HUMAN
AccessionPrimary (citable) accession number: P55291
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: July 9, 2014
This is version 129 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM