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Protein

BTB/POZ domain-containing protein KCTD12

Gene

KCTD12

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

  • identical protein binding Source: IntAct
  • RNA binding Source: UniProtKB

GO - Biological processi

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
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000178695.5
HGNCiHGNC:14678 KCTD12
MIMi610521 gene
neXtProtiNX_Q96CX2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi115207
OpenTargetsiENSG00000178695
PharmGKBiPA25512

Chemistry databases

GuidetoPHARMACOLOGYi1918

Polymorphism and mutation databases

BioMutaiKCTD12
DMDMi50401124

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001912952 – 325BTB/POZ domain-containing protein KCTD12Add BLAST324

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei119PhosphotyrosineBy similarity1
Modified residuei151PhosphoserineCombined sources1
Modified residuei171PhosphoserineBy similarity1
Modified residuei185PhosphoserineCombined sources1
Modified residuei196PhosphothreonineBy similarity1
Modified residuei200PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ96CX2
MaxQBiQ96CX2
PaxDbiQ96CX2
PeptideAtlasiQ96CX2
PRIDEiQ96CX2

2D gel databases

REPRODUCTION-2DPAGEiIPI00060715

PTM databases

iPTMnetiQ96CX2
PhosphoSitePlusiQ96CX2

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

BgeeiENSG00000178695
CleanExiHS_KCTD12
ExpressionAtlasiQ96CX2 baseline and differential
GenevisibleiQ96CX2 HS

Organism-specific databases

HPAiHPA056987

Interactioni

Subunit structurei

Interacts as a tetramer with GABRB1 and GABRB2.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
itself2EBI-358358,EBI-358358

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi125419, 46 interactors
CORUMiQ96CX2
IntActiQ96CX2, 18 interactors
MINTiQ96CX2
STRINGi9606.ENSP00000317141

Structurei

3D structure databases

ProteinModelPortaliQ96CX2
SMRiQ96CX2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiKOG2723 Eukaryota
ENOG410Z155 LUCA
GeneTreeiENSGT00760000119013
HOGENOMiHOG000041197
HOVERGENiHBG052218
InParanoidiQ96CX2
KOiK21918
OMAiRDPDHGM
OrthoDBiEOG091G0P3F
PhylomeDBiQ96CX2
TreeFamiTF315332

Family and domain databases

InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
IPR003131 T1-type_BTB
PfamiView protein in Pfam
PF02214 BTB_2, 1 hit
SMARTiView protein in SMART
SM00225 BTB, 1 hit
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
UCSCiuc010aeu.2 human

Similar proteinsi

Entry informationi

Entry nameiKCD12_HUMAN
AccessioniPrimary (citable) accession number: Q96CX2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: December 1, 2001
Last modified: March 28, 2018
This is version 141 of the entry and version 1 of the sequence. See 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
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Main funding by: National Institutes of Health