KLHL40
entrez
131377
canonical
uniprot
Q2TBA0
canonical
ensembl
ENSG00000157119
resolver
ensp
ENSP00000287777
resolver
genesymbol
KLHL40
resolver
genesymbol_syn
KBTBD5
resolver
genesymbol_syn
SRYP
resolver
hgnc
HGNC:30372
resolver
uniprot
A8K5H9
resolver
uniprot
Q86SI1
resolver
uniprot
Q96MR2
resolver
uniprot_entry
A8K5H9_HUMAN
resolver
uniprot_entry
KLH40_HUMAN
resolver
uniprot_sec
Q86SI1
resolver
uniprot_sec
Q96MR2
resolver
amino_acid_sequence
MALGLEQAEEQRLYQQTLLQDGLKDMLDHGKFLDCVVRAGEREFPCHRLVLAACSPYFRARFLAEPERAGELHLEEVSPDVVAQVLHYLYTSEIALDEASVQDLFAAAHRFQIPSIFTICVSFLQKRLCLSNCLAVFRLGLLLDCARLAVAARDFICAHFTLVARDADFLGLSADELIAIISSDGLNVEKEEAVFEAVMRWAGSGDAEAQAERQRALPTVFESVRCRLLPRAFLESRVERHPLVRAQPELLRKVQMVKDAHEGRITTLRKKKKGKDGAGAKEADKGTSKAKAEEDEEAERILPGILNDTLRFGMFLQDLIFMISEEGAVAYDPAANECYCASLSNQVPKNHVSLVTKENQVFVAGGLFYNEDNKEDPMSAYFLQFDHLDSEWLGMPPLPSPRCLFGLGEALNSIYVVGGREIKDGERCLDSVMCYDRLSFKWGESDPLPYVVYGHTVLSHMDLVYVIGGKGSDRKCLNKMCVYDPKKFEWKELAPMQTARSLFGATVHDGRIIVAAGVTDTGLTSSAEVYSITDNKWAPFEAFPQERSSLSLVSLVGTLYAIGGFATLETESGELVPTELNDIWRYNEEEKKWEGVLREIAYAAGATFLPVRLNVLCLTKM
uniprot
proteins
disease_involvement
DISEASE: Nemaline myopathy 8 (NEM8) [MIM:615348]: A severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM8 is characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils. {ECO:0000269|PubMed:23746549, ECO:0000269|PubMed:26754003, ECO:0000269|PubMed:27528495, ECO:0000269|PubMed:27762439}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a key regulator of skeletal muscle development (PubMed:23746549). The BCR(KLHL40) complex acts by mediating ubiquitination and degradation of TFDP1, thereby regulating the activity of the E2F:DP transcription factor complex (By similarity). Promotes stabilization of LMOD3 by acting as a negative regulator of LMOD3 ubiquitination; the molecular process by which it negatively regulates ubiquitination of LMOD3 is however unclear (By similarity). {ECO:0000250|UniProtKB:Q9D783, ECO:0000269|PubMed:23746549}.
uniprot
proteins
mass_dalton
69257
uniprot
proteins
protein_family
KLHL40 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
23349464
uniprot
proteins
pubmed
23746549
uniprot
proteins
pubmed
26754003
uniprot
proteins
pubmed
27528495
uniprot
proteins
pubmed
27762439
uniprot
proteins
sequence_length
621
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9D783}. Cytoplasm, myofibril, sarcomere, A band {ECO:0000269|PubMed:23746549}. Cytoplasm, myofibril, sarcomere, I band {ECO:0000250|UniProtKB:Q9D783}.
uniprot
proteins