Search
kelch-like protein 40; kelch repeat & BTB domain-containing protein 5; sarcosynapsin (KLHL40, KBTBD5, SRYP)
Function:
- required for skeletal muscle development
Structure:
- contains 1 BACK domain (BTB/Kelch associated domain)
- contains 1 BTB domain (POZ domain)
- contains 5 Kelch repeats
Compartment:
- cytoplasm, myofibril, sarcomere, A band
Alternative splicing: named isoforms=2
Expression:
- highly expressed in fetal (19, 23 & 31 weeksof gestation) & adult skeletal muscle
- expression levels tend to be higher in fetal compared to postnatal muscles (at protein level)
- also expressed in fetal & adult heart
Pathology:
- defects in KLHL40 are associated with nemaline myopathy 8
General
kelch-like protein
Properties
SIZE: entity length = 621 aa
MW = 69 kD
COMPARTMENT: cytoplasm
MOTIF: BTB domain {33-98}
MOTIF: Zinc finger
NAME: Zinc finger
EFFECTOR-BOUND: Zn+2
BACK {133-239}
lysine-rich region {270-275}
MOTIF: lysine residue (SEVERAL)
kelch repeat {360-412}
kelch repeat {413-462}
kelch repeat {463-510}
kelch repeat {512-557}
kelch repeat {559-613}
Database Correlations
OMIM correlations
UniProt Q2TBA0
PFAM correlations
Entrez Gene 131377
Kegg hsa:131377
References
UniProt :accession Q2TBA0