KLHL41 (kelch like family member 41)

2003-12-01  

Identity

HGNC
LOCATION
2q31.1
LOCUSID
ALIAS
KBTBD10,Krp1,SARCOSIN

Other Information

Locus ID:

NCBI: 10324
MIM: 607701
HGNC: 16905
Ensembl: ENSG00000239474

Variants:

dbSNP: 10324
ClinVar: 10324
TCGA: ENSG00000239474
COSMIC: KLHL41

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000239474ENST00000284669O60662

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
3500

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
242686592013Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.50

Citation

Dessen P

KLHL41 (kelch like family member 41)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41046/klhl41