KCTD12(13q22.3), PFETIN, PFET1, C13orf2. ( sisältää qqqpq, pqqp sekv)

https://www.ncbi.nlm.nih.gov/gene/115207

Official Symbol

KCTD12

Official Full Name

potassium channel tetramerization domain containing 12

Also known as

PFET1; PFETIN; C13orf2

Preferred Names

BTB/POZ domain-containing protein KCTD12

Names

potassium channel tetramerisation domain containing 12

predominantly fetal expressed T1 domain

testicular tissue protein Li 100

1. NM_138444.4 → NP_612453.1  BTB/POZ domain-containing protein KCTD12
   
   

   ORIGIN      
           1 maladstrgl pngggggggs gsssssaepp lfpdivelnv ggqvyvtrrc tvvsvpdsll
          61 wrmftqqqpq elardskgrf fldrdgflfr yildylrdlq lvlpdyfper srlqreaeyf
         121 elpelvrrlg apqqpgpgpp psrrgvhkeg slgdellplg ysepeqqega sagapsptle
         181 lasrspsgga agplltpsqs ldgsrrsgyi tigyrgsyti grdaqadakf rrvaritvcg
         241 ktslakevfg dtlnesrdpd rpperytsry ylkfnfleqa fdklsesgfh mvacsstgtc
         301 afasstdqse dkiwtsytey vfcre
   //

   Conserved Domains (1) summary

   cl02518
   Location:36 → 125

   BTB; BTB/POZ domain
   

   BTB/POZ domain

   The BTB (for BR-C, ttk and bab) or POZ (for Pox virus and Zinc finger) domain is present near the N-terminus of a fraction of zinc finger (pfam00096) proteins and in proteins that contain the pfam01344 motif such as Kelch and a family of pox virus proteins. The BTB/POZ domain mediates homomeric dimerisation and in some instances heteromeric dimerisation. The structure of the dimerized PLZF BTB/POZ domain has been solved and consists of a tightly intertwined homodimer. The central scaffolding of the protein is made up of a cluster of alpha-helices flanked by short beta-sheets at both the top and bottom of the molecule. POZ domains from several zinc finger proteins have been shown to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes including N-CoR and SMRT. The POZ or BTB domain is also known as BR-C/Ttk or ZiN.

Related articles in PubMed

1. Contribution of KCTD12 to esophageal squamous cell carcinoma. Abbaszadegan MR, et al. BMC Cancer, 2018 Aug 29. PMID 30157793, Free PMC Article
2. Lentiviral-mediated overexpression of KCTD12 inhibits the proliferation of human uveal melanoma OCM-1 cells. Luo L, et al. Oncol Rep, 2017 Feb. PMID 28000887
3. KCTD12 Regulates Colorectal Cancer Cell Stemness through the ERK Pathway. Li L, et al. Sci Rep, 2016 Feb 5. PMID 26847701, Free PMC Article
4. Use of potassium channel tetramerization domain-containing 12 as a biomarker for diagnosis and prognosis of gastrointestinal stromal tumor. Hasegawa T, et al. Hum Pathol, 2013 Jul. PMID 23290008
5. Pfetin as a prognostic biomarker of gastrointestinal stromal tumors revealed by proteomics. Suehara Y, et al. Clin Cancer Res, 2008 Mar 15. PMID 18347171

See all (39) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

1. KCTD12 may exert its inhibitory role in ESCC through the suppression of WNT /NOTCH, stem cell factors, and chromatin remodelers and can be introduced as an efficient therapeutic marker.
2. our study demonstrate that KCTD12 binds to CDC25B and activates CDK1 and Aurora A to facilitate the G2/M transition and promote tumorigenesis and that Aurora A phosphorylates KCTD12 at serine 243 to trigger a positive feedback loop, thereby potentiating the effects of KCTD12. Thus, the KCTD12-CDC25B-CDK1-Aurora A axis has important implications for cancer diagnoses and prognoses.
3. Low KCTD12 expression is associated with uveal melanoma.
4. Studies determined that KCTD12 plays an important role in the tumorigenesis of colorectal cancer progression via activation of the ERK signaling pathway.
5. N-terminal domain of KCTD12 assumes an alpha/beta structure, whereas the C-terminal domain is predominantly characterized by a beta-structure.
6. KCTD12 is a useful and reliable biomarker for both the diagnosis and prognosis of gastrointestinal stromal tumor.
7. This study provided that kctd12 are associated with Bipolar I in the Han Chinese population.
8. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
9. Pfetin is a powerful prognostic marker for gastrointestinal stromal tumors.
10. Observational study of gene-disease association. (HuGE Navigator)