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Q96CX2

- KCD12_HUMAN

UniProt

Q96CX2 - KCD12_HUMAN

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Protein

BTB/POZ domain-containing protein KCTD12

Gene

KCTD12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
  2. regulation of G-protein coupled receptor protein signaling pathway Source: Ensembl
Complete GO annotation...

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-KW
  4. presynaptic membrane Source: Ensembl
  5. receptor complex Source: Ensembl
Complete GO annotation...

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. 17 interactions.
IntActiQ96CX2. 1 interaction.
MINTiMINT-1159110.
STRINGi9606.ENSP00000317141.

Structurei

3D structure databases

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

Family & Domainsi

Phylogenomic databases

eggNOGiNOG295576.
GeneTreeiENSGT00760000119013.
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

        10         20         30         40         50
MALADSTRGL PNGGGGGGGS GSSSSSAEPP LFPDIVELNV GGQVYVTRRC
60 70 80 90 100
TVVSVPDSLL WRMFTQQQPQ ELARDSKGRF FLDRDGFLFR YILDYLRDLQ
110 120 130 140 150
LVLPDYFPER SRLQREAEYF ELPELVRRLG APQQPGPGPP PSRRGVHKEG
160 170 180 190 200
SLGDELLPLG YSEPEQQEGA SAGAPSPTLE LASRSPSGGA AGPLLTPSQS
210 220 230 240 250
LDGSRRSGYI TIGYRGSYTI GRDAQADAKF RRVARITVCG KTSLAKEVFG
260 270 280 290 300
DTLNESRDPD RPPERYTSRY YLKFNFLEQA FDKLSESGFH MVACSSTGTC
310 320
AFASSTDQSE DKIWTSYTEY VFCRE
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. 17 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.
GeneTreei ENSGT00760000119013.
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

« Hide 'large scale' publications
  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 29, 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 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