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Q9Y5H4

- PCDG1_HUMAN

UniProt

Q9Y5H4 - PCDG1_HUMAN

Protein

Protocadherin gamma-A1

Gene

PCDHGA1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 118 (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-A1
    Short name:
    PCDH-gamma-A1
    Gene namesi
    Name:PCDHGA1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:8696. PCDHGA1.

    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

    PharmGKBiPA33044.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2828Sequence AnalysisAdd
    BLAST
    Chaini29 – 931903Protocadherin gamma-A1PRO_0000003948Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi265 – 2651N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi419 – 4191N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi545 – 5451N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi685 – 6851N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9Y5H4.
    PRIDEiQ9Y5H4.

    PTM databases

    PhosphoSiteiQ9Y5H4.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9Y5H4.
    BgeeiQ9Y5H4.
    GenevestigatoriQ9Y5H4.

    Organism-specific databases

    HPAiHPA008755.
    HPA036547.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y5H4.
    SMRiQ9Y5H4. Positions 27-666.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini29 – 692664ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini714 – 931218CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei693 – 71321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini29 – 133105Cadherin 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 – 682113Cadherin 6PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 6 cadherin domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG256872.
    HOGENOMiHOG000220892.
    HOVERGENiHBG054878.
    InParanoidiQ9Y5H4.
    KOiK16495.
    OMAiRIRVQVV.
    OrthoDBiEOG7KSX80.
    PhylomeDBiQ9Y5H4.
    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: Q9Y5H4-1) [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

    MKIQKKLTGC SRLMLLCLSL ELLLEAGAGN IHYSVPEETD KGSFVGNIAK    50
    DLGLQPQELA DGGVRIVSRG RMPLFALNPR SGSLITARRI DREELCAQSM 100
    PCLVSFNILV EDKMKLFPVE VEIIDINDNT PQFQLEELEF KMNEITTPGT 150
    RVSLPFGQDL DVGMNSLQSY QLSSNPHFSL DVQQGADGPQ HPEMVLQSPL 200
    DREEEAVHHL ILTASDGGEP VRSGTLRIYI QVVDANDNPP AFTQAQYHIN 250
    VPENVPLGTQ LLMVNATDPD EGANGEVTYS FHNVDHRVAQ IFRLDSYTGE 300
    ISNKEPLDFE EYKMYSMEVQ AQDGAGLMAK VKVLIKVLDV NDNAPEVTIT 350
    SVTTAVPENF PPGTIIALIS VHDQDSGDNG YTTCFIPGNL PFKLEKLVDN 400
    YYRLVTERTL DRELISGYNI TITAIDQGTP ALSTETHISL LVTDINDNSP 450
    VFHQDSYSAY IPENNPRGAS IFSVRAHDLD SNENAQITYS LIEDTIQGAP 500
    LSAYLSINSD TGVLYALRSF DYEQFRDMQL KVMARDSGDP PLSSNVSLSL 550
    FLLDQNDNAP EILYPALPTD GSTGVELAPL SAEPGYLVTK VVAVDRDSGQ 600
    NAWLSYRLLK ASEPGLFSVG LHTGEVRTAR ALLDRDALKQ SLVVAVQDHG 650
    QPPLSATVTL TVAVADRISD ILADLGSLEP SAKPNDSDLT LYLVVAAAAV 700
    SCVFLAFVIV LLAHRLRRWH KSRLLQASGG GLASMPGSHF VGVDGVRAFL 750
    QTYSHEVSLT ADSRKSHLIF PQPNYADTLI SQESCEKKGF LSAPQSLLED 800
    KKEPFSQQAP PNTDWRFSQA QRPGTSGSQN GDDTGTWPNN QFDTEMLQAM 850
    ILASASEAAD GSSTLGGGAG TMGLSARYGP QFTLQHVPDY RQNVYIPGSN 900
    ATLTNAAGKR DGKAPAGGNG NKKKSGKKEK K 931
    Length:931
    Mass (Da):101,226
    Last modified:November 1, 1999 - v1
    Checksum:i7B2E8BB616116197
    GO
    Isoform 2 (identifier: Q9Y5H4-2) [UniParc]FASTAAdd to Basket

    Also known as: Short

    The sequence of this isoform differs from the canonical sequence as follows:
         808-823: QAPPNTDWRFSQAQRP → VNFCDECISYLEKNNS
         824-931: Missing.

    Show »
    Length:823
    Mass (Da):90,160
    Checksum:i94F394B6353AF82C
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti152 – 1521V → I.2 Publications
    Corresponds to variant rs2472647 [ dbSNP | Ensembl ].
    VAR_021882
    Natural varianti282 – 2821H → Q.
    Corresponds to variant rs17097185 [ dbSNP | Ensembl ].
    VAR_048555

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei808 – 82316QAPPN…QAQRP → VNFCDECISYLEKNNS in isoform 2. 2 PublicationsVSP_008659Add
    BLAST
    Alternative sequencei824 – 931108Missing in isoform 2. 2 PublicationsVSP_008660Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF152318 mRNA. Translation: AAD43712.1.
    CH471062 Genomic DNA. Translation: EAW61926.1.
    AF152507 mRNA. Translation: AAD43768.1.
    BC112082 mRNA. Translation: AAI12083.1.
    BC112084 mRNA. Translation: AAI12085.1.
    CCDSiCCDS54922.1. [Q9Y5H4-1]
    RefSeqiNP_061735.1. NM_018912.2. [Q9Y5H4-1]
    NP_114382.1. NM_031993.1. [Q9Y5H4-2]
    UniGeneiHs.368160.

    Genome annotation databases

    EnsembliENST00000378105; ENSP00000367345; ENSG00000204956. [Q9Y5H4-2]
    ENST00000517417; ENSP00000431083; ENSG00000204956. [Q9Y5H4-1]
    GeneIDi56114.
    KEGGihsa:56114.
    UCSCiuc003lji.2. human. [Q9Y5H4-1]
    uc011dan.2. human. [Q9Y5H4-2]

    Polymorphism databases

    DMDMi37999844.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF152318 mRNA. Translation: AAD43712.1 .
    CH471062 Genomic DNA. Translation: EAW61926.1 .
    AF152507 mRNA. Translation: AAD43768.1 .
    BC112082 mRNA. Translation: AAI12083.1 .
    BC112084 mRNA. Translation: AAI12085.1 .
    CCDSi CCDS54922.1. [Q9Y5H4-1 ]
    RefSeqi NP_061735.1. NM_018912.2. [Q9Y5H4-1 ]
    NP_114382.1. NM_031993.1. [Q9Y5H4-2 ]
    UniGenei Hs.368160.

    3D structure databases

    ProteinModelPortali Q9Y5H4.
    SMRi Q9Y5H4. Positions 27-666.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q9Y5H4.

    Polymorphism databases

    DMDMi 37999844.

    Proteomic databases

    PaxDbi Q9Y5H4.
    PRIDEi Q9Y5H4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000378105 ; ENSP00000367345 ; ENSG00000204956 . [Q9Y5H4-2 ]
    ENST00000517417 ; ENSP00000431083 ; ENSG00000204956 . [Q9Y5H4-1 ]
    GeneIDi 56114.
    KEGGi hsa:56114.
    UCSCi uc003lji.2. human. [Q9Y5H4-1 ]
    uc011dan.2. human. [Q9Y5H4-2 ]

    Organism-specific databases

    CTDi 56114.
    GeneCardsi GC05P141288.
    HGNCi HGNC:8696. PCDHGA1.
    HPAi HPA008755.
    HPA036547.
    MIMi 604968. gene.
    606288. gene.
    neXtProti NX_Q9Y5H4.
    PharmGKBi PA33044.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG256872.
    HOGENOMi HOG000220892.
    HOVERGENi HBG054878.
    InParanoidi Q9Y5H4.
    KOi K16495.
    OMAi RIRVQVV.
    OrthoDBi EOG7KSX80.
    PhylomeDBi Q9Y5H4.
    TreeFami TF332299.

    Miscellaneous databases

    ChiTaRSi PCDHGA1. human.
    GenomeRNAii 56114.
    NextBioi 61597.
    PROi Q9Y5H4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y5H4.
    Bgeei Q9Y5H4.
    Genevestigatori Q9Y5H4.

    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.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ILE-152.
    3. "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] (ISOFORM 2), VARIANT ILE-152.
      Tissue: Lung.

    Entry informationi

    Entry nameiPCDG1_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y5H4
    Secondary accession number(s): Q2M273, Q9Y5D6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 24, 2003
    Last sequence update: November 1, 1999
    Last modified: October 1, 2014
    This is version 118 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