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P55291

- CAD15_HUMAN

UniProt

P55291 - CAD15_HUMAN

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Protein

Cadherin-15

Gene

CDH15

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. calcium ion binding Source: InterPro

GO - Biological processi

  1. adherens junction organization Source: Reactome
  2. cell adhesion Source: ProtInc
  3. cell-cell junction organization Source: Reactome
  4. cell junction assembly Source: Reactome
  5. homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
  6. muscle cell differentiation Source: Reactome
  7. positive regulation of muscle cell differentiation Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

ReactomeiREACT_19195. Adherens junctions interactions.
REACT_21402. CDO in myogenesis.

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
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:1754. CDH15.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini61 – 606546ExtracellularSequence AnalysisAdd
BLAST
Transmembranei607 – 62620HelicalSequence AnalysisAdd
BLAST
Topological domaini627 – 814188CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. caveola Source: Ensembl
  2. extracellular vesicular exosome Source: UniProtKB
  3. integral component of membrane Source: UniProtKB-KW
  4. neuromuscular junction Source: Ensembl
  5. plasma membrane Source: Reactome
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) [MIM:612580]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81V → L in MRD3; uncertain pathological significance. 1 Publication
VAR_054966
Natural varianti60 – 601R → C in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 Publication
VAR_054967
Natural varianti92 – 921R → W in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 Publication
VAR_054968
Natural varianti122 – 1221A → V in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 Publication
Corresponds to variant rs121434541 [ dbSNP | Ensembl ].
VAR_054969

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi103 – 1031K → R: No effect on cell-cell adhesion. 1 Publication
Mutagenesisi109 – 1091M → T: No effect on cell-cell adhesion. 1 Publication

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121Sequence AnalysisAdd
BLAST
Propeptidei22 – 6039Sequence AnalysisPRO_0000003805Add
BLAST
Chaini61 – 814754Cadherin-15PRO_0000003806Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi227 – 2271N-linked (GlcNAc...)Sequence Analysis
Glycosylationi531 – 5311N-linked (GlcNAc...)Sequence Analysis
Glycosylationi538 – 5381N-linked (GlcNAc...)Sequence Analysis
Glycosylationi576 – 5761N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Cleavage on pair of basic residues, Glycoprotein

Proteomic databases

PaxDbiP55291.
PeptideAtlasiP55291.
PRIDEiP55291.

PTM databases

PhosphoSiteiP55291.

Expressioni

Tissue specificityi

Expressed in the brain and cerebellum.1 Publication

Gene expression databases

BgeeiP55291.
CleanExiHS_CDH15.
HS_CDH3.
GenevestigatoriP55291.

Organism-specific databases

HPAiHPA009139.

Interactioni

Protein-protein interaction databases

BioGridi107448. 4 interactions.
STRINGi9606.ENSP00000289746.

Structurei

3D structure databases

ProteinModelPortaliP55291.
SMRiP55291. Positions 47-580, 702-779.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini61 – 15292Cadherin 1PROSITE-ProRule annotationAdd
BLAST
Domaini153 – 260108Cadherin 2PROSITE-ProRule annotationAdd
BLAST
Domaini261 – 375115Cadherin 3PROSITE-ProRule annotationAdd
BLAST
Domaini376 – 481106Cadherin 4PROSITE-ProRule annotationAdd
BLAST
Domaini482 – 590109Cadherin 5PROSITE-ProRule annotationAdd
BLAST

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

eggNOGiNOG306443.
GeneTreeiENSGT00760000118906.
HOGENOMiHOG000231254.
HOVERGENiHBG106438.
InParanoidiP55291.
KOiK06809.
OMAiWVARFTI.
OrthoDBiEOG7RJPQM.
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81V → L in MRD3; uncertain pathological significance. 1 Publication
VAR_054966
Natural varianti60 – 601R → C in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 Publication
VAR_054967
Natural varianti92 – 921R → W in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 Publication
VAR_054968
Natural varianti122 – 1221A → V in MRD3; affects cell-cell adhesion but not surface expression of the protein. 1 Publication
Corresponds to variant rs121434541 [ dbSNP | Ensembl ].
VAR_054969

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.3. human.

Polymorphism databases

DMDMi1705553.

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 .
CCDSi CCDS10976.1.
PIRi G02878.
RefSeqi NP_004924.1. NM_004933.2.
UniGenei Hs.148090.

3D structure databases

ProteinModelPortali P55291.
SMRi P55291. Positions 47-580, 702-779.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107448. 4 interactions.
STRINGi 9606.ENSP00000289746.

PTM databases

PhosphoSitei P55291.

Polymorphism databases

DMDMi 1705553.

Proteomic databases

PaxDbi P55291.
PeptideAtlasi P55291.
PRIDEi P55291.

Protocols and materials databases

DNASUi 1013.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000289746 ; ENSP00000289746 ; ENSG00000129910 .
GeneIDi 1013.
KEGGi hsa:1013.
UCSCi uc002fmt.3. human.

Organism-specific databases

CTDi 1013.
GeneCardsi GC16P089238.
HGNCi HGNC:1754. CDH15.
HPAi HPA009139.
MIMi 114019. gene.
612580. phenotype.
neXtProti NX_P55291.
Orphaneti 178469. Autosomal dominant non-syndromic intellectual disability.
PharmGKBi PA26288.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG306443.
GeneTreei ENSGT00760000118906.
HOGENOMi HOG000231254.
HOVERGENi HBG106438.
InParanoidi P55291.
KOi K06809.
OMAi WVARFTI.
OrthoDBi EOG7RJPQM.
PhylomeDBi P55291.
TreeFami TF316817.

Enzyme and pathway databases

Reactomei REACT_19195. Adherens junctions interactions.
REACT_21402. CDO in myogenesis.

Miscellaneous databases

GeneWikii CDH15.
GenomeRNAii 1013.
NextBioi 4257.
PROi P55291.
SOURCEi Search...

Gene expression databases

Bgeei P55291.
CleanExi HS_CDH15.
HS_CDH3.
Genevestigatori P55291.

Family and domain databases

Gene3Di 2.60.40.60. 5 hits.
4.10.900.10. 1 hit.
InterProi IPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR000233. Cadherin_cytoplasmic-dom.
IPR027397. Catenin_binding_dom.
[Graphical view ]
Pfami PF00028. Cadherin. 4 hits.
PF01049. Cadherin_C. 1 hit.
[Graphical view ]
PRINTSi PR00205. CADHERIN.
SMARTi SM00112. CA. 4 hits.
[Graphical view ]
SUPFAMi SSF49313. SSF49313. 5 hits.
PROSITEi PS00232. CADHERIN_1. 2 hits.
PS50268. CADHERIN_2. 5 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.

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: October 29, 2014
This is version 132 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

External Data

Dasty 3