P55291 (CAD15_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Cadherin-15

Alternative name(s):
Cadherin-14
Muscle cadherin
Short name=M-cadherin

Gene names

Name:	CDH15
Synonyms:	CDH14, CDH3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	814 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 adaptative 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.

Ontologies

Keywords
Biological process	Cell adhesion
Cellular component	Cell membrane Membrane
Coding sequence diversity	Chromosomal rearrangement
Disease	Disease mutation Mental retardation
Domain	Repeat Signal Transmembrane Transmembrane helix
Ligand	Calcium Metal-binding
PTM	Cleavage on pair of basic residues Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	adherens junction organization Traceable author statement. Source: Reactome cell adhesion Traceable author statement PubMed 9545347. Source: ProtInc cell junction assembly Traceable author statement. Source: Reactome homophilic cell adhesion Inferred from electronic annotation. Source: InterPro muscle cell differentiation Traceable author statement. Source: Reactome positive regulation of muscle cell differentiation Traceable author statement. Source: Reactome
Cellular_component	caveola Inferred from electronic annotation. Source: Compara integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW neuromuscular junction Inferred from electronic annotation. Source: Compara plasma membrane Traceable author statement. Source: Reactome
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 21	21	Potential
	Propeptide	22 – 60	39	Potential		PRO_0000003805
	Chain	61 – 814	754	Cadherin-15		PRO_0000003806
Regions
	Topological domain	61 – 606	546	Extracellular Potential
	Transmembrane	607 – 626	20	Helical; Potential
	Topological domain	627 – 814	188	Cytoplasmic Potential
	Domain	61 – 152	92	Cadherin 1
	Domain	153 – 260	108	Cadherin 2
	Domain	261 – 375	115	Cadherin 3
	Domain	376 – 481	106	Cadherin 4
	Domain	482 – 590	109	Cadherin 5
Amino acid modifications
	Glycosylation	227	1	N-linked (GlcNAc...) Potential
	Glycosylation	531	1	N-linked (GlcNAc...) Potential
	Glycosylation	538	1	N-linked (GlcNAc...) Potential
	Glycosylation	576	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	8	1	V → L in MRD3; uncertain pathological significance. Ref.3		VAR_054966
	Natural variant	60	1	R → C in MRD3; affects cell-cell adhesion but not surface expression of the protein. Ref.3		VAR_054967
	Natural variant	92	1	R → W in MRD3; affects cell-cell adhesion but not surface expression of the protein. Ref.3		VAR_054968
	Natural variant	122	1	A → V in MRD3; affects cell-cell adhesion but not surface expression of the protein. Ref.3		VAR_054969
Experimental info
	Mutagenesis	103	1	K → R: No effect on cell-cell adhesion. Ref.3
	Mutagenesis	109	1	M → T: No effect on cell-cell adhesion. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	P55291 [UniParc]. Last modified October 1, 1996. Version 1. Checksum: 618A817DBF2B3343	FASTA	814	88,916
	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

References

	« Hide 'large scale' referencesShow '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.
IPI	IPI00024048.
PIR	G02878.
RefSeq	NP_004924.1. NM_004933.2.
UniGene	Hs.148090.
3D structure databases
ProteinModelPortal	P55291.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000289746.
PTM databases
PhosphoSite	P55291.
Polymorphism databases
DMDM	1705553.
Proteomic databases
PaxDb	P55291.
PeptideAtlas	P55291.
PRIDE	P55291.
Protocols and materials databases
DNASU	1013.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000289746; ENSP00000289746; ENSG00000129910.
GeneID	1013.
KEGG	hsa:1013.
UCSC	uc002fmt.3. human.
Organism-specific databases
CTD	1013.
GeneCards	GC16P089238.
HGNC	HGNC:1754. CDH15.
HPA	HPA009139.
MIM	114019. gene. 612580. phenotype.
neXtProt	NX_P55291.
Orphanet	178469. Autosomal dominant nonsyndromic intellectual deficit.
PharmGKB	PA26288.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG306443.
HOGENOM	HOG000231254.
HOVERGEN	HBG106438.
InParanoid	P55291.
KO	K06809.
OMA	WVARFTI.
OrthoDB	EOG4BRWK5.
PhylomeDB	P55291.
Enzyme and pathway databases
Reactome	REACT_111045. Developmental Biology. REACT_111155. Cell-Cell communication.
Gene expression databases
Bgee	P55291.
CleanEx	HS_CDH15. HS_CDH3.
Genevestigator	P55291.
GermOnline	ENSG00000129910. Homo sapiens.
Family and domain databases
Gene3D	2.60.40.60. 5 hits. 4.10.900.10. 1 hit.
InterPro	IPR002126. Cadherin. IPR015919. Cadherin-like. IPR020894. Cadherin_CS. IPR000233. Cadherin_cytoplasmic-dom. IPR027397. Catenin_binding_dom. [Graphical view]
Pfam	PF00028. Cadherin. 4 hits. PF01049. Cadherin_C. 1 hit. [Graphical view]
PRINTS	PR00205. CADHERIN.
SMART	SM00112. CA. 4 hits. [Graphical view]
SUPFAM	SSF49313. Cadherin. 5 hits.
PROSITE	PS00232. CADHERIN_1. 2 hits. PS50268. CADHERIN_2. 5 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	1013.
NextBio	4257.
SOURCE	Search...

Entry information

Entry name

CAD15_HUMAN

Accession

Primary (citable) accession number: P55291

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	October 1, 1996
Last modified:	May 29, 2013
This is version 117 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.