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Protein

BTB/POZ domain-containing protein KCTD12

Gene

KCTD12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • poly(A) RNA binding Source: UniProtKB

GO - Biological processi

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 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:14678. KCTD12.

Subcellular locationi

GO - Cellular componenti

  • cell junction Source: UniProtKB-KW
  • extracellular exosome Source: UniProtKB
  • postsynaptic membrane Source: UniProtKB-SubCell
  • presynaptic membrane Source: UniProtKB-SubCell
  • 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.

Polymorphism and mutation databases

BioMutaiKCTD12.
DMDMi50401124.

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 – 1511Phosphoserine1 Publication
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.
GenevisibleiQ96CX2. HS.

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.
OMAiCITIGYR.
OrthoDBiEOG7K3TM1.
PhylomeDBiQ96CX2.
TreeFamiTF315332.

Family and domain databases

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:
EMBLi
GenBanki
DDBJi
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.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF359381 mRNA. Translation: AAQ15187.1.
BC013764 mRNA. Translation: AAH13764.1.
CCDSiCCDS9455.1.
RefSeqiNP_612453.1. NM_138444.3.
UniGeneiHs.644125.

3D structure databases

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

Protein-protein interaction databases

BioGridi125419. 17 interactions.
IntActiQ96CX2. 1 interaction.
MINTiMINT-1159110.
STRINGi9606.ENSP00000317141.

PTM databases

PhosphoSiteiQ96CX2.

Polymorphism and mutation databases

BioMutaiKCTD12.
DMDMi50401124.

2D gel databases

REPRODUCTION-2DPAGEIPI00060715.

Proteomic databases

MaxQBiQ96CX2.
PaxDbiQ96CX2.
PeptideAtlasiQ96CX2.
PRIDEiQ96CX2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi115207.
GeneCardsiGC13M077454.
H-InvDBHIX0171820.
HGNCiHGNC:14678. KCTD12.
MIMi610521. gene.
neXtProtiNX_Q96CX2.
PharmGKBiPA25512.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG295576.
GeneTreeiENSGT00760000119013.
HOGENOMiHOG000041197.
HOVERGENiHBG052218.
InParanoidiQ96CX2.
OMAiCITIGYR.
OrthoDBiEOG7K3TM1.
PhylomeDBiQ96CX2.
TreeFamiTF315332.

Miscellaneous databases

ChiTaRSiKCTD12. human.
GeneWikiiKCTD12.
GenomeRNAii115207.
NextBioi79536.
PROiQ96CX2.
SOURCEiSearch...

Gene expression databases

BgeeiQ96CX2.
CleanExiHS_KCTD12.
GenevisibleiQ96CX2. HS.

Family and domain databases

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.
ProtoNetiSearch...

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].
  12. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-151, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.

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: June 24, 2015
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 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.