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Q96CX2 (KCD12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
BTB/POZ domain-containing protein KCTD12
Alternative name(s):
Pfetin
Predominantly fetal expressed T1 domain
Gene names
Name:KCTD12
Synonyms:C13orf2, KIAA1778, PFET1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length325 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Interacts as a tetramer with GABRB1 and GABRB2. Ref.7

Subcellular location

Cell junctionsynapsepresynaptic cell membrane. Cell junctionsynapsepostsynaptic cell membrane By similarity.

Tissue specificity

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. Ref.1

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.11
Chain2 – 325324BTB/POZ domain-containing protein KCTD12
PRO_0000191295

Amino acid modifications

Modified residue21N-acetylalanine Ref.11
Modified residue1191Phosphotyrosine By similarity
Modified residue1511Phosphoserine By similarity
Modified residue1851Phosphoserine Ref.4
Modified residue1961Phosphothreonine By similarity

Sequences

Sequence LengthMass (Da)Tools
Q96CX2 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 6254CC18E27275A9

FASTA32535,701
        10         20         30         40         50         60 
MALADSTRGL PNGGGGGGGS GSSSSSAEPP LFPDIVELNV GGQVYVTRRC TVVSVPDSLL 

        70         80         90        100        110        120 
WRMFTQQQPQ ELARDSKGRF FLDRDGFLFR YILDYLRDLQ LVLPDYFPER SRLQREAEYF 

       130        140        150        160        170        180 
ELPELVRRLG APQQPGPGPP PSRRGVHKEG SLGDELLPLG YSEPEQQEGA SAGAPSPTLE 

       190        200        210        220        230        240 
LASRSPSGGA AGPLLTPSQS LDGSRRSGYI TIGYRGSYTI GRDAQADAKF RRVARITVCG 

       250        260        270        280        290        300 
KTSLAKEVFG DTLNESRDPD RPPERYTSRY YLKFNFLEQA FDKLSESGFH MVACSSTGTC 

       310        320 
AFASSTDQSE DKIWTSYTEY VFCRE 

« Hide

References

« Hide 'large scale' references
[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]"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.
Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Embryonic kidney.
[4]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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]"Native GABA(B) receptors are heteromultimers with a family of auxiliary subunits."
Schwenk J., Metz M., Zolles G., Turecek R., Fritzius T., Bildl W., Tarusawa E., Kulik A., Unger A., Ivankova K., Seddik R., Tiao J.Y., Rajalu M., Trojanova J., Rohde V., Gassmann M., Schulte U., Fakler B., Bettler B.
Nature 465:231-235(2010) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF359381 mRNA. Translation: AAQ15187.1.
BC013764 mRNA. Translation: AAH13764.1.
CCDSCCDS9455.1.
RefSeqNP_612453.1. NM_138444.3.
UniGeneHs.644125.

3D structure databases

ProteinModelPortalQ96CX2.
SMRQ96CX2. Positions 36-127.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125419. 15 interactions.
IntActQ96CX2. 1 interaction.
MINTMINT-1159110.
STRING9606.ENSP00000317141.

PTM databases

PhosphoSiteQ96CX2.

Polymorphism databases

DMDM50401124.

2D gel databases

REPRODUCTION-2DPAGEIPI00060715.

Proteomic databases

MaxQBQ96CX2.
PaxDbQ96CX2.
PeptideAtlasQ96CX2.
PRIDEQ96CX2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000317765; ENSP00000317141; ENSG00000178695.
ENST00000377474; ENSP00000366694; ENSG00000178695.
GeneID115207.
KEGGhsa:115207.
UCSCuc001vka.1. human.

Organism-specific databases

CTD115207.
GeneCardsGC13M077454.
H-InvDBHIX0171820.
HGNCHGNC:14678. KCTD12.
MIM610521. gene.
neXtProtNX_Q96CX2.
PharmGKBPA25512.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG295576.
HOGENOMHOG000041197.
HOVERGENHBG052218.
InParanoidQ96CX2.
OMAGVQKEGS.
OrthoDBEOG7K3TM1.
PhylomeDBQ96CX2.
TreeFamTF315332.

Gene expression databases

BgeeQ96CX2.
CleanExHS_KCTD12.
GenevestigatorQ96CX2.

Family and domain databases

Gene3D3.30.710.10. 1 hit.
InterProIPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR003131. T1-type_BTB.
[Graphical view]
PfamPF02214. BTB_2. 1 hit.
[Graphical view]
SMARTSM00225. BTB. 1 hit.
[Graphical view]
SUPFAMSSF54695. SSF54695. 1 hit.
ProtoNetSearch...

Other

ChiTaRSKCTD12. human.
GeneWikiKCTD12.
GenomeRNAi115207.
NextBio79536.
PROQ96CX2.
SOURCESearch...

Entry information

Entry nameKCD12_HUMAN
AccessionPrimary (citable) accession number: Q96CX2
Entry history
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 110 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM