Property Summary

NCBI Gene PubMed Count 16
PubMed Score 18.74
PubTator Score 9.94

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count
Myopathies, Nemaline 1
Disease Target Count P-value
atypical teratoid / rhabdoid tumor 4369 9.14675806951315E-5
pituitary cancer 1972 4.08260412454479E-4
medulloblastoma, large-cell 6234 5.0156377781915E-4
osteosarcoma 7933 0.0318065944771437
Disease Target Count Z-score Confidence
Nemaline myopathy 17 4.398 2.2
Disease Target Count Z-score Confidence
Western equine encephalitis 11 4.483 2.2
Congenital myopathy 12 3.326 1.7
Disease Target Count
Nemaline myopathy 9 1

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

  Ortholog (4)

Species Source
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Zebrafish OMA Inparanoid

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.
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