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Q9UN73

- PCDA6_HUMAN

UniProt

Q9UN73 - PCDA6_HUMAN

Protein

Protocadherin alpha-6

Gene

PCDHA6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      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. cell adhesion Source: ProtInc
    2. homophilic cell adhesion Source: InterPro
    3. nervous system development Source: ProtInc

    Keywords - Biological processi

    Cell adhesion

    Keywords - Ligandi

    Calcium

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protocadherin alpha-6
    Short name:
    PCDH-alpha-6
    Gene namesi
    Name:PCDHA6
    Synonyms:CNRS2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:8672. PCDHA6.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular region Source: UniProtKB-SubCell
    2. integral component of plasma membrane Source: ProtInc

    Keywords - Cellular componenti

    Cell membrane, Membrane, Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA33018.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2929Sequence AnalysisAdd
    BLAST
    Chaini30 – 950921Protocadherin alpha-6PRO_0000003894Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi257 – 2571N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi265 – 2651N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi386 – 3861N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi548 – 5481N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9UN73.
    PRIDEiQ9UN73.

    PTM databases

    PhosphoSiteiQ9UN73.

    Expressioni

    Gene expression databases

    BgeeiQ9UN73.
    CleanExiHS_PCDHA6.
    GenevestigatoriQ9UN73.

    Organism-specific databases

    HPAiHPA008712.

    Interactioni

    Protein-protein interaction databases

    BioGridi121082. 2 interactions.
    IntActiQ9UN73. 2 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UN73.
    SMRiQ9UN73. Positions 27-681.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini30 – 697668ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini719 – 950232CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei698 – 71821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini34 – 133100Cadherin 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini157 – 24286Cadherin 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini243 – 350108Cadherin 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini351 – 455105Cadherin 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini456 – 565110Cadherin 5PROSITE-ProRule annotationAdd
    BLAST
    Domaini581 – 67898Cadherin 6PROSITE-ProRule annotationAdd
    BLAST
    Repeati799 – 8024PXXP 1
    Repeati832 – 8354PXXP 2
    Repeati873 – 8764PXXP 3
    Repeati891 – 8944PXXP 4

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni799 – 894964 X 4 AA repeats of P-X-X-PAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi923 – 9308Poly-Lys

    Sequence similaritiesi

    Contains 6 cadherin domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG267459.
    HOGENOMiHOG000220892.
    HOVERGENiHBG054878.
    InParanoidiQ9UN73.
    KOiK16493.
    OMAiEGACTAD.
    OrthoDBiEOG7KSX80.
    PhylomeDBiQ9UN73.
    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 (3)i

    Sequence statusi: Complete.

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

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform 1 (identifier: Q9UN73-1) [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

    MVFTPEDRLG KQCLLLPLLL LAAWKVGSGQ LHYSVPEEAK HGTFVGRIAQ    50
    DLGLELAELV PRLFRMASKD REDLLEVNLQ NGILFVNSRI DREELCGRSA 100
    ECSIHLEVIV DRPLQVFHVD VEVRDINDNP PLFPVEEQRV LIYESRLPDS 150
    VFPLEGASDA DVGSNSILTY KLSSSEYFGL DVKINSDDNK QIGLLLKKSL 200
    DREEAPAHNL FLTATDGGKP ELTGTVQLLV TVLDVNDNAP TFEQSEYEVR 250
    IFENADNGTT VIRLNASDRD EGANGAISYS FNSLVAAMVI DHFSIDRNTG 300
    EIVIRGNLDF EQENLYKILI DATDKGHPPM AGHCTVLVRI LDKNDNVPEI 350
    ALTSLSLPVR EDAQFGTVIA LISVNDLDSG ANGQVNCSLT PHVPFKLVST 400
    FKNYYSLVLD SALDRESVSA YELVVTARDG GSPSLWATAS LSVEVADMND 450
    NAPAFAQPEY TVFVKENNPP GCHIFTVSAR DADAQENALV SYSLVERRVG 500
    ERALSSYISV HAESGKVYAL QPLDHEELEL LQFQVSARDA GVPPLGSNVT 550
    LQVFVLDEND NAPALLAPRV GGTGGAVSEL VPRSLGAGQV VAKVRAVDAD 600
    SGYNAWLSYE LQPPASSARF PFRVGLYTGE ISTTRVLDEA DSPRHRLLVL 650
    VKDHGEPALT ATATVLVSLV ESGQAPKASS RASVGAAGPE AALVDVNVYL 700
    IIAICAVSSL LVLTLLLYTA LRCSAPPTEG ACTADKPTLV CSSAVGSWSY 750
    SQQRRQRVCS GEGPPKMDLM AFSPSLSPCP IMMGKAENQD LNEDHDAKPR 800
    QPNPDWRYSA SLRAGMHSSV HLEEAGILRA GPGGPDQQWP TVSSATPEPE 850
    AGEVSPPVGA GVNSNSWTFK YGPGNPKQSG PGELPDKFII PGSPAIISIR 900
    QEPTNSQIDK SDFITFGKKE ETKKKKKKKK GNKTQEKKEK GNSTTDNSDQ 950
    Length:950
    Mass (Da):102,716
    Last modified:May 1, 2000 - v1
    Checksum:i894B97B9737C52B9
    GO
    Isoform 2 (identifier: Q9UN73-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         535-798: Missing.

    Show »
    Length:686
    Mass (Da):75,250
    Checksum:i683E33D08C967700
    GO
    Isoform 3 (identifier: Q9UN73-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         799-803: PRQPN → VSEFS
         804-950: Missing.

    Show »
    Length:803
    Mass (Da):86,845
    Checksum:iD95B0E37DD1B0F17
    GO

    Sequence cautioni

    The sequence AAF89691.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti585 – 5851L → V.
    Corresponds to variant rs60309716 [ dbSNP | Ensembl ].
    VAR_061061

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei535 – 798264Missing in isoform 2. 1 PublicationVSP_000681Add
    BLAST
    Alternative sequencei799 – 8035PRQPN → VSEFS in isoform 3. 1 PublicationVSP_000682
    Alternative sequencei804 – 950147Missing in isoform 3. 1 PublicationVSP_000683Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF152314 mRNA. Translation: AAD43708.1.
    AF152484 mRNA. Translation: AAD43745.1.
    AF169694 mRNA. Translation: AAF89691.1. Different initiation.
    AC005609 Genomic DNA. Translation: AAC34320.1.
    BC036674 mRNA. Translation: AAH36674.1.
    CCDSiCCDS47281.1. [Q9UN73-1]
    CCDS47282.1. [Q9UN73-2]
    RefSeqiNP_061732.1. NM_018909.3. [Q9UN73-1]
    NP_114036.1. NM_031848.2. [Q9UN73-3]
    NP_114037.1. NM_031849.2. [Q9UN73-2]
    UniGeneiHs.199343.
    Hs.570901.
    Hs.599714.
    Hs.621225.

    Genome annotation databases

    EnsembliENST00000527624; ENSP00000434113; ENSG00000081842. [Q9UN73-2]
    ENST00000529310; ENSP00000433378; ENSG00000081842. [Q9UN73-1]
    GeneIDi56142.
    KEGGihsa:56142.
    UCSCiuc003lhn.2. human. [Q9UN73-2]
    uc003lho.2. human. [Q9UN73-1]
    uc011dab.2. human. [Q9UN73-3]

    Polymorphism databases

    DMDMi13878423.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF152314 mRNA. Translation: AAD43708.1 .
    AF152484 mRNA. Translation: AAD43745.1 .
    AF169694 mRNA. Translation: AAF89691.1 . Different initiation.
    AC005609 Genomic DNA. Translation: AAC34320.1 .
    BC036674 mRNA. Translation: AAH36674.1 .
    CCDSi CCDS47281.1. [Q9UN73-1 ]
    CCDS47282.1. [Q9UN73-2 ]
    RefSeqi NP_061732.1. NM_018909.3. [Q9UN73-1 ]
    NP_114036.1. NM_031848.2. [Q9UN73-3 ]
    NP_114037.1. NM_031849.2. [Q9UN73-2 ]
    UniGenei Hs.199343.
    Hs.570901.
    Hs.599714.
    Hs.621225.

    3D structure databases

    ProteinModelPortali Q9UN73.
    SMRi Q9UN73. Positions 27-681.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121082. 2 interactions.
    IntActi Q9UN73. 2 interactions.

    PTM databases

    PhosphoSitei Q9UN73.

    Polymorphism databases

    DMDMi 13878423.

    Proteomic databases

    PaxDbi Q9UN73.
    PRIDEi Q9UN73.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000527624 ; ENSP00000434113 ; ENSG00000081842 . [Q9UN73-2 ]
    ENST00000529310 ; ENSP00000433378 ; ENSG00000081842 . [Q9UN73-1 ]
    GeneIDi 56142.
    KEGGi hsa:56142.
    UCSCi uc003lhn.2. human. [Q9UN73-2 ]
    uc003lho.2. human. [Q9UN73-1 ]
    uc011dab.2. human. [Q9UN73-3 ]

    Organism-specific databases

    CTDi 56142.
    GeneCardsi GC05P140439.
    HGNCi HGNC:8672. PCDHA6.
    HPAi HPA008712.
    MIMi 604966. gene.
    606312. gene.
    neXtProti NX_Q9UN73.
    PharmGKBi PA33018.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG267459.
    HOGENOMi HOG000220892.
    HOVERGENi HBG054878.
    InParanoidi Q9UN73.
    KOi K16493.
    OMAi EGACTAD.
    OrthoDBi EOG7KSX80.
    PhylomeDBi Q9UN73.
    TreeFami TF332299.

    Miscellaneous databases

    GeneWikii PCDHA6.
    GenomeRNAii 56142.
    NextBioi 61718.
    PROi Q9UN73.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9UN73.
    CleanExi HS_PCDHA6.
    Genevestigatori Q9UN73.

    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 3).
      Tissue: Brain.
    2. "Alternative splicing within the human CNR family of protocadherins (PCDH-alpha) produces transcripts encoding secreted proteins."
      Kools P.F.J., van Roy F.
      Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Brain.
    3. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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 1).
      Tissue: Brain.

    Entry informationi

    Entry nameiPCDA6_HUMAN
    AccessioniPrimary (citable) accession number: Q9UN73
    Secondary accession number(s): O75283, Q9NRT8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 127 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