Property Summary

NCBI Gene PubMed Count 7
Grant Count 4
Funding $360,695.8
PubMed Score 2.86
PubTator Score 4.24

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.300 0.001

Gene RIF (2)

PMID Text
22542517 these results demonstrate that KBTBD13 is a putative substrate adaptor for Cul3-RL that functions as a muscle specific ubiquitin ligase, and thereby implicate the ubiquitin proteasome pathway in the pathogenesis of KBTBD13-associated NEM.
21109227 mutation screening led to the identification of a previously uncharacterized gene, KBTBD13, coding for a hypothetical protein and containing missense mutations that perfectly cosegregate with nemaline myopathy in the studied families

AA Sequence

MARGPQTLVQVWVGGQLFQADRALLVEHCGFFRGLFRSGMRETRAAEVRLGVLSAGGFRATLQVLRGDRP      1 - 70
ALAAEDELLQAVECAAFLQAPALARFLEHNLTSDNCALLCDAAAAFGLRDVFHSAALFICDGERELAAEL     71 - 140
ALPEARAYVAALRPSSYAAVSTHTPAPGFLEDASRTLCYLDEEEDAWRTLAALPLEASTLLAGVATLGNK    141 - 210
LYIVGGVRGASKEVVELGFCYDPDGGTWHEFPSPHQPRYDTALAGFDGRLYAIGGEFQRTPISSVERYDP    211 - 280
AAGCWSFVADLPQPAAGVPCAQACGRLFVCLWRPADTTAVVEYAVRTDAWLPVAELRRPQSYGHCMVAHR    281 - 350
DSLYVVRNGPSDDFLHCAIDCLNLATGQWTALPGQFVNSKGALFTAVVRGDTVYTVNRMFTLLYAIEGGT    351 - 420
WRLLREKAGFPRPGSLQTFLLRLPPGAPGPVTSTTAEL                                    421 - 458
//

Text Mined References (7)

PMID Year Title
22542517 2012 KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase.
21109227 2010 Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16207353 2005 Sequence and structural analysis of BTB domain proteins.
12805120 2003 A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.
11181995 2001 The sequence of the human genome.