Property Summary

NCBI Gene PubMed Count 7
PubMed Score 16.80
PubTator Score 3.30

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
type II diabetes mellitus and post-ische... -1.100 0.033
diabetes mellitus -1.200 0.002
psoriasis -1.200 0.000

Synonym

Accession Q2TBA0 Q86SI1 Q96MR2
Symbols NEM8
SRYP
SYRP
KBTBD5

Gene

PDB

4ASC  

Gene RIF (2)

PMID Text
24960163 NEB and LMOD3 were reduced in skeletal muscle of KLHL40-deficient patients, providing a potential basis for the development of nemaline myopathy.
23746549 KLHL40 mutations as a frequent cause of severe autosomal-recessive nemaline myopathy. It plays a key role in muscle development and function.

AA Sequence

MALGLEQAEEQRLYQQTLLQDGLKDMLDHGKFLDCVVRAGEREFPCHRLVLAACSPYFRARFLAEPERAG      1 - 70
ELHLEEVSPDVVAQVLHYLYTSEIALDEASVQDLFAAAHRFQIPSIFTICVSFLQKRLCLSNCLAVFRLG     71 - 140
LLLDCARLAVAARDFICAHFTLVARDADFLGLSADELIAIISSDGLNVEKEEAVFEAVMRWAGSGDAEAQ    141 - 210
AERQRALPTVFESVRCRLLPRAFLESRVERHPLVRAQPELLRKVQMVKDAHEGRITTLRKKKKGKDGAGA    211 - 280
KEADKGTSKAKAEEDEEAERILPGILNDTLRFGMFLQDLIFMISEEGAVAYDPAANECYCASLSNQVPKN    281 - 350
HVSLVTKENQVFVAGGLFYNEDNKEDPMSAYFLQFDHLDSEWLGMPPLPSPRCLFGLGEALNSIYVVGGR    351 - 420
EIKDGERCLDSVMCYDRLSFKWGESDPLPYVVYGHTVLSHMDLVYVIGGKGSDRKCLNKMCVYDPKKFEW    421 - 490
KELAPMQTARSLFGATVHDGRIIVAAGVTDTGLTSSAEVYSITDNKWAPFEAFPQERSSLSLVSLVGTLY    491 - 560
AIGGFATLETESGELVPTELNDIWRYNEEEKKWEGVLREIAYAAGATFLPVRLNVLCLTKM             561 - 621
//

Text Mined References (7)

PMID Year Title
24960163 2014 KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy.
23746549 2013 Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
23676014 2013 Update on the Kelch-like (KLHL) gene family.
23349464 2013 Structural basis for Cul3 protein assembly with the BTB-Kelch family of E3 ubiquitin ligases.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.