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P55291

- CAD15_HUMAN

UniProt

P55291 - CAD15_HUMAN

Protein

Cadherin-15

Gene

CDH15

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 1 (01 Oct 1996)
      Previous versions | rss
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    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 Source: InterPro
    6. muscle cell differentiation Source: Reactome
    7. positive regulation of muscle cell differentiation Source: Reactome

    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

    GO - Cellular componenti

    1. caveola Source: Ensembl
    2. integral component of membrane Source: UniProtKB-KW
    3. neuromuscular junction Source: Ensembl
    4. plasma membrane Source: Reactome

    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 nonsyndromic 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...

    Topological domain

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

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei607 – 62620HelicalSequence AnalysisAdd
    BLAST

    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.
    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

    MDAAFLLVLG LLAQSLCLSL GVPGWRRPTT LYPWRRAPAL SRVRRAWVIP    50
    PISVSENHKR LPYPLVQIKS DKQQLGSVIY SIQGPGVDEE PRGVFSIDKF 100
    TGKVFLNAML DREKTDRFRL RAFALDLGGS TLEDPTDLEI VVVDQNDNRP 150
    AFLQEAFTGR VLEGAVPGTY VTRAEATDAD DPETDNAALR FSILQQGSPE 200
    LFSIDELTGE IRTVQVGLDR EVVAVYNLTL QVADMSGDGL TATASAIITL 250
    DDINDNAPEF TRDEFFMEAI EAVSGVDVGR LEVEDRDLPG SPNWVARFTI 300
    LEGDPDGQFT IRTDPKTNEG VLSIVKALDY ESCEHYELKV SVQNEAPLQA 350
    AALRAERGQA KVRVHVQDTN EPPVFQENPL RTSLAEGAPP GTLVATFSAR 400
    DPDTEQLQRL SYSKDYDPED WLQVDAATGR IQTQHVLSPA SPFLKGGWYR 450
    AIVLAQDDAS QPRTATGTLS IEILEVNDHA PVLAPPPPGS LCSEPHQGPG 500
    LLLGATDEDL PPHGAPFHFQ LSPRLPELGR NWSLSQVNVS HARLRPRHQV 550
    PEGLHRLSLL LRDSGQPPQQ REQPLNVTVC RCGKDGVCLP GAAALLAGGT 600
    GLSLGALVIV LASALLLLVL VLLVALRARF WKQSRGKGLL HGPQDDLRDN 650
    VLNYDEQGGG EEDQDAYDIS QLRHPTALSL PLGPPPLRRD APQGRLHPQP 700
    PRVLPTSPLD IADFINDGLE AADSDPSVPP YDTALIYDYE GDGSVAGTLS 750
    SILSSQGDED QDYDYLRDWG PRFARLADMY GHPCGLEYGA RWDHQAREGL 800
    SPGALLPRHR GRTA 814
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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 nonsyndromic intellectual disability.
    PharmGKBi PA26288.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG306443.
    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

    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 1, 2014
    This is version 131 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