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Q9Y5F9

- PCDGI_HUMAN

UniProt

Q9Y5F9 - PCDGI_HUMAN

Protein

Protocadherin gamma-B6

Gene

PCDHGB6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 1 (01 Nov 1999)
      Previous versions | rss
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    Functioni

    Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro

    GO - Biological processi

    1. homophilic cell adhesion Source: InterPro

    Keywords - Biological processi

    Cell adhesion

    Keywords - Ligandi

    Calcium

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protocadherin gamma-B6
    Short name:
    PCDH-gamma-B6
    Gene namesi
    Name:PCDHGB6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:8713. PCDHGB6.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA33061.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3030Sequence AnalysisAdd
    BLAST
    Chaini31 – 930900Protocadherin gamma-B6PRO_0000003981Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi304 – 3041N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi419 – 4191N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi545 – 5451N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ9Y5F9.
    PRIDEiQ9Y5F9.

    PTM databases

    PhosphoSiteiQ9Y5F9.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9Y5F9.
    BgeeiQ9Y5F9.
    GenevestigatoriQ9Y5F9.

    Organism-specific databases

    HPAiHPA008755.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y5F9.
    SMRiQ9Y5F9. Positions 33-686.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini31 – 691661ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini713 – 930218CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei692 – 71221HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini31 – 133103Cadherin 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini134 – 242109Cadherin 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini243 – 347105Cadherin 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini348 – 452105Cadherin 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini453 – 562110Cadherin 5PROSITE-ProRule annotationAdd
    BLAST
    Domaini570 – 675106Cadherin 6PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 6 cadherin domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    HOGENOMiHOG000220892.
    HOVERGENiHBG054878.
    KOiK16496.
    OMAiRVNSDGG.
    OrthoDBiEOG7J70DX.
    PhylomeDBiQ9Y5F9.
    TreeFamiTF332299.

    Family and domain databases

    Gene3Di2.60.40.60. 6 hits.
    InterProiIPR002126. Cadherin.
    IPR015919. Cadherin-like.
    IPR020894. Cadherin_CS.
    IPR013164. Cadherin_N.
    [Graphical view]
    PfamiPF00028. Cadherin. 5 hits.
    PF08266. Cadherin_2. 1 hit.
    [Graphical view]
    PRINTSiPR00205. CADHERIN.
    SMARTiSM00112. CA. 6 hits.
    [Graphical view]
    SUPFAMiSSF49313. SSF49313. 6 hits.
    PROSITEiPS00232. CADHERIN_1. 5 hits.
    PS50268. CADHERIN_2. 6 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9Y5F9-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MGGSCAQRRR AGPRQVLFPL LLPLFYPTLS EPIRYSIPEE LAKGSVVGNL    50
    AKDLGLSVLD VSARKLRVSA EKLHFSVDAE SGDLLVKNRI DREQICKERR 100
    RCELQLEAVV ENPLNIFHVI VVIEDVNDHA PQFDKKEIHL EIFESASAGT 150
    RLSLDPATDP DININSIKDY KINSNPYFSL MVRVNSDGGK YPELSLEKLL 200
    DREEQRSHSL ILTALDGGDP PRSATAHIEI SVKDTNDNPP VFSRDEYRIS 250
    LSENLPPGSP VLQVTATDQD EGVNAEINYY FRSTAQSTKH MFSLDEKTGM 300
    IKNNQSFDFE DVERYTMEVE AKDGGGLSTQ CKVIIEILDE NDNSPEIIIT 350
    SLSDQILENS PPGMVVALFK TRDLDFGGNG EVRCNIETDI PFKIYSSSNN 400
    YYKLVTDGAL DREQTPEYNV TIVATDRGKP PLSSSRSITL YVADINDNAP 450
    VFDQTSYVVH VAENNPPGAS IAQVSASDPD LGLNGHISYS IVASDLEPLA 500
    VSSYVSVSAQ SGVVFAQRAF DHEQLRAFAL TLQARDHGSP TLSANVSLRV 550
    LVGDRNDNAP RVLYPALGPD GSAFFDMVPR SAEPGYLVTK VVAVDADSGH 600
    NAWLSYHVLQ ASEPGLFSLG LRTGEVRTAR ALGDRDAARQ RLLVAVRDGG 650
    QPPLSATATL HLVFADNLQE ILPDLSDRPV LSDPQAELQF YLVVALALIS 700
    VLFLLAVILA IALRLRRSLS PATWDCFHPG LCVKSGPVVP PNYSEGTLPY 750
    SYNLCIAHTG TKEFNFLKCS VPLHSNEDMV CSVSPGALIP PHGGEDLTSH 800
    PETLTSQAPP NTDWRFSQAQ RPGTSGSQNG DDTGTWPNNQ FDTEMLQAMI 850
    LASASEAADG SSTLGGGAGT MGLSARYGPQ FTLQHVPDYR QNVYIPGSNA 900
    TLTNAAGKRD GKAPAGGNGN KKKSGKKEKK 930
    Length:930
    Mass (Da):101,043
    Last modified:November 1, 1999 - v1
    Checksum:i274409FD35D18E6E
    GO
    Isoform 2 (identifier: Q9Y5F9-2) [UniParc]FASTAAdd to Basket

    Also known as: Short

    The sequence of this isoform differs from the canonical sequence as follows:
         807-820: QAPPNTDWRFSQAQ → VSFSFLCVIYLIVY
         821-930: Missing.

    Show »
    Length:820
    Mass (Da):89,765
    Checksum:i83370B01C3D7F883
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti684 – 6841P → S.
    Corresponds to variant rs3749768 [ dbSNP | Ensembl ].
    VAR_021883
    Natural varianti722 – 7221A → T.
    Corresponds to variant rs3749767 [ dbSNP | Ensembl ].
    VAR_021884
    Natural varianti775 – 7751S → A.
    Corresponds to variant rs6891442 [ dbSNP | Ensembl ].
    VAR_048572

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei807 – 82014QAPPN…FSQAQ → VSFSFLCVIYLIVY in isoform 2. 1 PublicationVSP_008694Add
    BLAST
    Alternative sequencei821 – 930110Missing in isoform 2. 1 PublicationVSP_008695Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF152335 mRNA. Translation: AAD43729.1.
    AF152522 mRNA. Translation: AAD43782.1.
    CCDSiCCDS54929.1. [Q9Y5F9-1]
    RefSeqiNP_061749.1. NM_018926.2. [Q9Y5F9-1]
    NP_115271.1. NM_032100.1. [Q9Y5F9-2]
    UniGeneiHs.368160.

    Genome annotation databases

    EnsembliENST00000520790; ENSP00000428603; ENSG00000253305. [Q9Y5F9-1]
    GeneIDi56100.
    KEGGihsa:56100.
    UCSCiuc003lki.1. human. [Q9Y5F9-2]
    uc003lkj.2. human. [Q9Y5F9-1]

    Polymorphism databases

    DMDMi37999829.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF152335 mRNA. Translation: AAD43729.1 .
    AF152522 mRNA. Translation: AAD43782.1 .
    CCDSi CCDS54929.1. [Q9Y5F9-1 ]
    RefSeqi NP_061749.1. NM_018926.2. [Q9Y5F9-1 ]
    NP_115271.1. NM_032100.1. [Q9Y5F9-2 ]
    UniGenei Hs.368160.

    3D structure databases

    ProteinModelPortali Q9Y5F9.
    SMRi Q9Y5F9. Positions 33-686.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q9Y5F9.

    Polymorphism databases

    DMDMi 37999829.

    Proteomic databases

    MaxQBi Q9Y5F9.
    PRIDEi Q9Y5F9.

    Protocols and materials databases

    DNASUi 56100.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000520790 ; ENSP00000428603 ; ENSG00000253305 . [Q9Y5F9-1 ]
    GeneIDi 56100.
    KEGGi hsa:56100.
    UCSCi uc003lki.1. human. [Q9Y5F9-2 ]
    uc003lkj.2. human. [Q9Y5F9-1 ]

    Organism-specific databases

    CTDi 56100.
    GeneCardsi GC05P141333.
    HGNCi HGNC:8713. PCDHGB6.
    HPAi HPA008755.
    MIMi 604968. gene.
    606303. gene.
    neXtProti NX_Q9Y5F9.
    PharmGKBi PA33061.
    GenAtlasi Search...

    Phylogenomic databases

    HOGENOMi HOG000220892.
    HOVERGENi HBG054878.
    KOi K16496.
    OMAi RVNSDGG.
    OrthoDBi EOG7J70DX.
    PhylomeDBi Q9Y5F9.
    TreeFami TF332299.

    Miscellaneous databases

    GenomeRNAii 56100.
    NextBioi 61511.
    PROi Q9Y5F9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y5F9.
    Bgeei Q9Y5F9.
    Genevestigatori Q9Y5F9.

    Family and domain databases

    Gene3Di 2.60.40.60. 6 hits.
    InterProi IPR002126. Cadherin.
    IPR015919. Cadherin-like.
    IPR020894. Cadherin_CS.
    IPR013164. Cadherin_N.
    [Graphical view ]
    Pfami PF00028. Cadherin. 5 hits.
    PF08266. Cadherin_2. 1 hit.
    [Graphical view ]
    PRINTSi PR00205. CADHERIN.
    SMARTi SM00112. CA. 6 hits.
    [Graphical view ]
    SUPFAMi SSF49313. SSF49313. 6 hits.
    PROSITEi PS00232. CADHERIN_1. 5 hits.
    PS50268. CADHERIN_2. 6 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A striking organization of a large family of human neural cadherin-like cell adhesion genes."
      Wu Q., Maniatis T.
      Cell 97:779-790(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
      Tissue: Brain.

    Entry informationi

    Entry nameiPCDGI_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y5F9
    Secondary accession number(s): Q9Y5C5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 24, 2003
    Last sequence update: November 1, 1999
    Last modified: October 1, 2014
    This is version 113 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 5
      Human chromosome 5: 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