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Protein

BTB/POZ domain-containing protein KCTD12

Gene

KCTD12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 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

  • 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

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

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. 24 interactors.
IntActiQ96CX2. 9 interactors.
MINTiMINT-1159110.
STRINGi9606.ENSP00000317141.

Structurei

3D structure databases

ProteinModelPortaliQ96CX2.
SMRiQ96CX2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

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

Family and domain databases

InterProiView protein in InterPro
IPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
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.

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125419. 24 interactors.
IntActiQ96CX2. 9 interactors.
MINTiMINT-1159110.
STRINGi9606.ENSP00000317141.

Chemistry databases

GuidetoPHARMACOLOGYi1918.

PTM databases

iPTMnetiQ96CX2.
PhosphoSitePlusiQ96CX2.

Polymorphism and mutation databases

BioMutaiKCTD12.
DMDMi50401124.

2D gel databases

REPRODUCTION-2DPAGEiIPI00060715.

Proteomic databases

EPDiQ96CX2.
MaxQBiQ96CX2.
PaxDbiQ96CX2.
PeptideAtlasiQ96CX2.
PRIDEiQ96CX2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377474; ENSP00000366694; ENSG00000178695.
GeneIDi115207.
KEGGihsa:115207.
UCSCiuc010aeu.2. human.

Organism-specific databases

CTDi115207.
DisGeNETi115207.
GeneCardsiKCTD12.
H-InvDBiHIX0171820.
HGNCiHGNC:14678. KCTD12.
HPAiHPA056987.
MIMi610521. gene.
neXtProtiNX_Q96CX2.
OpenTargetsiENSG00000178695.
PharmGKBiPA25512.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiKCTD12. human.
GeneWikiiKCTD12.
GenomeRNAii115207.
PROiPR:Q96CX2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000178695.
CleanExiHS_KCTD12.
ExpressionAtlasiQ96CX2. baseline and differential.
GenevisibleiQ96CX2. HS.

Family and domain databases

InterProiView protein in InterPro
IPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
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.
ProtoNetiSearch...

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: June 7, 2017
This is version 135 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

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

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 one 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.