Property Summary

NCBI Gene PubMed Count 16
Grant Count 4
Funding $433,252.19
PubMed Score 18.74
PubTator Score 9.94

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma 2.943 0.032
atypical teratoid / rhabdoid tumor 1.100 0.000
medulloblastoma, large-cell 2.400 0.001
pituitary cancer 2.300 0.000

Synonym

Accession O60662 Q53R42
Symbols Krp1
KBTBD10
SARCOSIN

Gene

Gene RIF (2)

PMID Text
24667918 Microarray analysis indicates HIV-1 Tat-induced downregulation of kelch-like family member 41 (KLHL41; KBTBD10) in primary human brain microvascular endothelial cells
24268659 Mutations in KLHL41 showed phenotype-genotype correlation: Frameshift mutations resulted in severe phenotypes with neonatal death, whereas missense changes resulted in impaired motor function with survival into late childhood and/or early adulthood.

AA Sequence

MDSQRELAEELRLYQSTLLQDGLKDLLDEKKFIDCTLKAGDKSLPCHRLILSACSPYFREYFLSEIDEAK      1 - 70
KKEVVLDNVDPAILDLIIKYLYSASIDLNDGNVQDIFALASRFQIPSVFTVCVSYLQKRLAPGNCLAILR     71 - 140
LGLLLDCPRLAISAREFVSDRFVQICKEEDFMQLSPQELISVISNDSLNVEKEEAVFEAVMKWVRTDKEN    141 - 210
RVKNLSEVFDCIRFRLMTEKYFKDHVEKDDIIKSNPDLQKKIKVLKDAFAGKLPEPSKNAAKTGAGEVNG    211 - 280
DVGDEDLLPGYLNDIPRHGMFVKDLILLVNDTAAVAYDPTENECYLTALAEQIPRNHSSIVTQQNQIYVV    281 - 350
GGLYVDEENKDQPLQSYFFQLDSIASEWVGLPPLPSARCLFGLGEVDDKIYVVAGKDLQTEASLDSVLCY    351 - 420
DPVAAKWNEVKKLPIKVYGHNVISHKGMIYCLGGKTDDKKCTNRVFIFNPKKGDWKDLAPMKIPRSMFGV    421 - 490
AVHKGKIVIAGGVTEDGLSASVEAFDLTTNKWDVMTEFPQERSSISLVSLAGSLYAIGGFAMIQLESKEF    491 - 560
APTEVNDIWKYEDDKKEWAGMLKEIRYASGASCLATRLNLFKLSKL                            561 - 606
//

Text Mined References (16)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
25110572 2014 Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations.
24268659 2013 Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
23676014 2013 Update on the Kelch-like (KLHL) gene family.
23414517 2013 A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
19424503 2009 Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
16396496 2006 Insulin-dependent interactions of proteins with GLUT4 revealed through stable isotope labeling by amino acids in cell culture (SILAC).
15983046 2005 Ubiquitination of Keap1, a BTB-Kelch substrate adaptor protein for Cul3, targets Keap1 for degradation by a proteasome-independent pathway.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
More...