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Q96CX2

- KCD12_HUMAN

UniProt

Q96CX2 - KCD12_HUMAN

Protein

BTB/POZ domain-containing protein KCTD12

Gene

KCTD12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G-protein signaling of the receptors by accelerating onset and promoting desensitization By similarity.By similarity

    GO - Molecular functioni

    1. poly(A) RNA binding Source: UniProtKB

    GO - Biological processi

    1. protein homooligomerization Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    BTB/POZ domain-containing protein KCTD12
    Alternative name(s):
    Pfetin
    Predominantly fetal expressed T1 domain
    Gene namesi
    Name:KCTD12
    Synonyms:C13orf2, KIAA1778, PFET1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:14678. KCTD12.

    Subcellular locationi

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. extracellular vesicular exosome Source: UniProt
    3. postsynaptic membrane Source: UniProtKB-SubCell
    4. presynaptic membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25512.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 325324BTB/POZ domain-containing protein KCTD12PRO_0000191295Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication
    Modified residuei119 – 1191PhosphotyrosineBy similarity
    Modified residuei151 – 1511PhosphoserineBy similarity
    Modified residuei185 – 1851Phosphoserine1 Publication
    Modified residuei196 – 1961PhosphothreonineBy similarity

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ96CX2.
    PaxDbiQ96CX2.
    PeptideAtlasiQ96CX2.
    PRIDEiQ96CX2.

    2D gel databases

    REPRODUCTION-2DPAGEIPI00060715.

    PTM databases

    PhosphoSiteiQ96CX2.

    Expressioni

    Tissue specificityi

    Present in a variety of fetal organs, with highest expression levels in the cochlea and brain and, in stark contrast, is detected only at extremely low levels in adult organs, such as brain and lung.1 Publication

    Gene expression databases

    BgeeiQ96CX2.
    CleanExiHS_KCTD12.
    GenevestigatoriQ96CX2.

    Interactioni

    Subunit structurei

    Interacts as a tetramer with GABRB1 and GABRB2.1 Publication

    Protein-protein interaction databases

    BioGridi125419. 15 interactions.
    IntActiQ96CX2. 1 interaction.
    MINTiMINT-1159110.
    STRINGi9606.ENSP00000317141.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96CX2.
    SMRiQ96CX2. Positions 36-127.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG295576.
    HOGENOMiHOG000041197.
    HOVERGENiHBG052218.
    InParanoidiQ96CX2.
    OMAiGVQKEGS.
    OrthoDBiEOG7K3TM1.
    PhylomeDBiQ96CX2.
    TreeFamiTF315332.

    Family and domain databases

    Gene3Di3.30.710.10. 1 hit.
    InterProiIPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR003131. T1-type_BTB.
    [Graphical view]
    PfamiPF02214. BTB_2. 1 hit.
    [Graphical view]
    SMARTiSM00225. BTB. 1 hit.
    [Graphical view]
    SUPFAMiSSF54695. SSF54695. 1 hit.

    Sequencei

    Sequence statusi: Complete.

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

    Q96CX2-1 [UniParc]FASTAAdd to Basket

    « Hide

    MALADSTRGL PNGGGGGGGS GSSSSSAEPP LFPDIVELNV GGQVYVTRRC    50
    TVVSVPDSLL WRMFTQQQPQ ELARDSKGRF FLDRDGFLFR YILDYLRDLQ 100
    LVLPDYFPER SRLQREAEYF ELPELVRRLG APQQPGPGPP PSRRGVHKEG 150
    SLGDELLPLG YSEPEQQEGA SAGAPSPTLE LASRSPSGGA AGPLLTPSQS 200
    LDGSRRSGYI TIGYRGSYTI GRDAQADAKF RRVARITVCG KTSLAKEVFG 250
    DTLNESRDPD RPPERYTSRY YLKFNFLEQA FDKLSESGFH MVACSSTGTC 300
    AFASSTDQSE DKIWTSYTEY VFCRE 325
    Length:325
    Mass (Da):35,701
    Last modified:December 1, 2001 - v1
    Checksum:i6254CC18E27275A9
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF359381 mRNA. Translation: AAQ15187.1.
    BC013764 mRNA. Translation: AAH13764.1.
    CCDSiCCDS9455.1.
    RefSeqiNP_612453.1. NM_138444.3.
    UniGeneiHs.644125.

    Genome annotation databases

    EnsembliENST00000377474; ENSP00000366694; ENSG00000178695.
    GeneIDi115207.
    KEGGihsa:115207.
    UCSCiuc001vka.1. human.

    Polymorphism databases

    DMDMi50401124.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF359381 mRNA. Translation: AAQ15187.1 .
    BC013764 mRNA. Translation: AAH13764.1 .
    CCDSi CCDS9455.1.
    RefSeqi NP_612453.1. NM_138444.3.
    UniGenei Hs.644125.

    3D structure databases

    ProteinModelPortali Q96CX2.
    SMRi Q96CX2. Positions 36-127.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125419. 15 interactions.
    IntActi Q96CX2. 1 interaction.
    MINTi MINT-1159110.
    STRINGi 9606.ENSP00000317141.

    PTM databases

    PhosphoSitei Q96CX2.

    Polymorphism databases

    DMDMi 50401124.

    2D gel databases

    REPRODUCTION-2DPAGE IPI00060715.

    Proteomic databases

    MaxQBi Q96CX2.
    PaxDbi Q96CX2.
    PeptideAtlasi Q96CX2.
    PRIDEi Q96CX2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000377474 ; ENSP00000366694 ; ENSG00000178695 .
    GeneIDi 115207.
    KEGGi hsa:115207.
    UCSCi uc001vka.1. human.

    Organism-specific databases

    CTDi 115207.
    GeneCardsi GC13M077454.
    H-InvDB HIX0171820.
    HGNCi HGNC:14678. KCTD12.
    MIMi 610521. gene.
    neXtProti NX_Q96CX2.
    PharmGKBi PA25512.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG295576.
    HOGENOMi HOG000041197.
    HOVERGENi HBG052218.
    InParanoidi Q96CX2.
    OMAi GVQKEGS.
    OrthoDBi EOG7K3TM1.
    PhylomeDBi Q96CX2.
    TreeFami TF315332.

    Miscellaneous databases

    ChiTaRSi KCTD12. human.
    GeneWikii KCTD12.
    GenomeRNAii 115207.
    NextBioi 79536.
    PROi Q96CX2.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q96CX2.
    CleanExi HS_KCTD12.
    Genevestigatori Q96CX2.

    Family and domain databases

    Gene3Di 3.30.710.10. 1 hit.
    InterProi IPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR003131. T1-type_BTB.
    [Graphical view ]
    Pfami PF02214. BTB_2. 1 hit.
    [Graphical view ]
    SMARTi SM00225. BTB. 1 hit.
    [Graphical view ]
    SUPFAMi SSF54695. SSF54695. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Isolation from cochlea of a novel human intronless gene with predominant fetal expression."
      Resendes B.L., Kuo S.F., Robertson N.G., Giersch A.B., Honrubia D., Ohara O., Adams J.C., Morton C.C.
      J. Assoc. Res. Otolaryngol. 5:185-202(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
      Tissue: Cochlea.
    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: Testis.
    3. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Embryonic kidney.
    4. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-185, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    5. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    6. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    7. Cited for: INTERACTION WITH GABRB1 AND GABRB2, TETRAMERIZATION.
    8. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiKCD12_HUMAN
    AccessioniPrimary (citable) accession number: Q96CX2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 19, 2004
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 112 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 13
      Human chromosome 13: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3