KBTB (8p23.3), KLHDC7C , Kr. myel.leukemiaan assosioitunut proteiini

https://www.ncbi.nlm.nih.gov/gene/9920

Official Symbol

KBTBD11

Official Full Name

kelch repeat and BTB domain containing 11

Also known as

KLHDC7C

Expression

Broad expression in brain (RPKM 16.2), kidney (RPKM 8.3) and 19 other tissues See more

Orthologs

Preferred Names

kelch repeat and BTB domain-containing protein 11

Names

chronic myelogenous leukemia-associated protein

kelch domain-containing protein 7B

kelch repeat and BTB (POZ) domain containing 11

 623 a.a.

1. NM_014867.3 → NP_055682.1  kelch repeat and BTB domain-containing protein 11
   See identical proteins and their annotated locations for NP_055682.1
   
   

   ORIGIN      
           1 mehavapcvl ypgtepgaag esesegaasp aqtpcslgas lcfssgeesp pqslasaaeg
          61 aatsppssgg prvverqwea gsagaaspee laspeeracp eepaapspep rvwledpasp
         121 eepgepapvp pgfgavygep dlvlevsgrr lrahkavlaa rsdyfraras rdvlrvqgvs
         181 ltalrlllad aysgrmagvr pdnvaevvag arrlqlpgaa qratdavgpq lslancyevl
         241 saakrqrlne lrdaaycfms dhylevlrep avfgrlsgae rdlllrrrlr agrahllaaa
         301 lgpagerags rpqspsgdad argdaavycf haaagewrel trlpegapar gcglcvlyny
         361 lfvaggvapa gpdgrarpsd qvfcynpatd swsavrplrq arsqlrllal dghlyavgge
         421 cllsverydp radrwapvap lprgafavah eattchgeiy vsggslfyrl lkydprrdew
         481 qecpcsssre rsadmvaldg fiyrfdlsgs rgeaqaagps gvsvsryhcl akqwspcvap
         541 lrlpggptgl qpfrcaaldg aiycvsragt wrfqparege aggdagqggg fealgapldv
         601 rgvlipfals lpekpprgeq gap

   Conserved Domains (6) summary

   smart00612
   Location:413 → 449

   Kelch; Kelch domain

   smart00225
   Location:141 → 226

   BTB; Broad-Complex, Tramtrack and Bric a brac

   sd00038
   Location:350 → 398

   Kelch; KELCH repeat [structural motif]

   pfam00651
   Location:141 → 225

   BTB; BTB/POZ domain

   pfam01344
   Location:348 → 399

   Kelch_1; Kelch motif

   pfam05334
   Location:54 → 136

   DUF719; Protein of unknown function (DUF719)This family consists of several eukaryotic proteins of unknown function.

Related articles in PubMed

1. A polymorphic MYC response element in KBTBD11 influences colorectal cancer risk, especially in interaction with an MYC-regulated SNP rs6983267. Gong J, et al. Ann Oncol, 2018 Mar 1. PMID 29267898
2. High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p. Ranta S, et al. Genome Res, 1997 Sep. PMID 9314494
3. Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10. Verhoeven K, et al. Am J Hum Genet, 2003 Oct. PMID 14508709, Free PMC Article
4. Genome-wide association study of selenium concentrations. Cornelis MC, et al. Hum Mol Genet, 2015 Mar 1. PMID 25343990, Free PMC Article
5. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1998 Oct 30. PMID 9872452

See all (7) citations in PubMed

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF? Our study highlighted the high colorectal cancer risk of people carrying MYC rs6983267 G and KBTBD11 rs11777210 C alleles

 LISÄTIETOA 10.11. 2019 Kelch-motiivista

 https://www.ncbi.nlm.nih.gov/pubmed/30837587

 

Sci Rep. 2019 Mar 5;9(1):3523. doi: 10.1038/s41598-019-40240-2.

KBTBD11, a novel BTB-Kelch protein, is a negative regulator of osteoclastogenesis through controlling Cullin3-mediated ubiquitination of NFATc1.

Narahara S^1,2, Sakai E¹, Kadowaki T³, Yamaguchi Y¹, Narahara H¹, Okamoto K^1,4, Asahina I², Tsukuba T⁵.

Author information

Abstract Kelch repeat and BTB domain-containing protein 11 (KBTBD11) is a member of the KBTBD subfamily of proteins that possess a BTB domain and Kelch repeats. Despite the presence of the Kbtbd11 gene in mammalian genomes, there are few reports about KBTBD11 at present. In this study, we identified the novel protein KBTBD11 as a negative regulator of osteoclast differentiation. We found that expression of  NFAT Small-interfering-RNA-mediated knockdown of KBTBD11 enhanced osteoclast formation, and markedly increased the expression of several osteoclast marker genes compared with control cells. Conversely, KBTBD11 overexpression impaired osteoclast differentiation, and decreased the expression of osteoclast marker genes. Among six major signaling pathways regulating osteoclast differentiation, KBTBD11 predominantly influenced the nuclear factor of activated T cell cytoplasmic-1 (NFATc1) pathway. Mechanistically, KBTBD11 was found to interact with an E3 ubiquitin ligase, Cullin3. Further experiments involving immunoprecipitation and treatment with MG132, a proteasome inhibitor, showed that the KBTBD11-Cullin3 promotes ubiquitination and degradation of NFATc1 by the proteasome. Considering that NFATc1 is an essential factor for osteoclast differentiation, the KBTBD11 and Cullin3 probably regulate the levels of NFATc1 through the ubiquitin-proteasome degradation system. Thus, KBTBD11 negatively modulates osteoclast differentiation by controlling Cullin3-mediated ubiquitination of NFATc1.

DOI:

10.1038/s41598-019-40240-2

NFAT1c  tekee interaktion Pim-1 kanssa:
 https://en.wikipedia.org/wiki/PIM1

 

1. (PDF) Understanding the functional discrepancy of Pim-1 in ...
   
   https://www.academia.edu/24324323/Understanding...
   
   Gene CARDS  NAMES: KBTBD11

   • Kelch Repeat And BTB Domain Containing 11 ^{2 3 5}
   • Kelch Repeat And BTB Domain-Containing Protein 11 ^{3 4}
   • Chronic Myelogenous Leukemia-Associated Protein ^{3 4}
   • Kelch Repeat And BTB (POZ) Domain Containing 11 ^{2 3}
   • Kelch Domain-Containing Protein 7B ^{3 4}
   • KLHDC7C ^{3 4}
   • KIAA0711 ⁴
   • CMLAP ⁴