AFG1L
entrez
246269
canonical
uniprot
Q8WV93
canonical
ensembl
ENSG00000135537
resolver
ensp
ENSP00000357973
resolver
ensp
ENSP00000398225
resolver
ensp
ENSP00000578195
resolver
ensp
ENSP00000578201
resolver
ensp
ENSP00000653044
resolver
enst
ENST00000368977
resolver
genesymbol
AFG1L
resolver
genesymbol_syn
AFG1
resolver
genesymbol_syn
LACE1
resolver
hgnc
HGNC:16411
resolver
uniprot
Q8N6A3
resolver
uniprot_entry
AFG1L_HUMAN
resolver
uniprot_sec
Q8N6A3
resolver
amino_acid_sequence
MAASWSLLVTLRPLAQSPLRGRCVGCGAWAAALAPLATAPGKPFWKAYTVQTSESMTPTATSETYLKALAVCHGPLDHYDFLIKAHELKDDEHQRRVIQCLQKLHEDLKGYNIEAEGLFSKLFSRSKPPRGLYVYGDVGTGKTMVMDMFYAYVEMKRKKRVHFHGFMLDVHKRIHRLKQSLPKRKPGFMAKSYDPIAPIAEEISEEACLLCFDEFQVTDIADAMILKQLFENLFKNGVVVVATSNRPPEDLYKNGLQRANFVPFIAVLKEYCNTVQLDSGIDYRKRELPAAGKLYYLTSEADVEAVMDKLFDELAQKQNDLTRPRILKVQGRELRLNKACGTVADCTFEELCERPLGASDYLELSKNFDTIFLRNIPQFTLANRTQGRRFITLIDNFYDLKVRIICSASTPISSLFLHQHHDSELEQSRILMDDLGLSQDSAEGLSMFTGEEEIFAFQRTISRLTEMQTEQYWNEGDRTKK
uniprot
proteins
ec_number
3.6.-.-
uniprot
proteins
function
FUNCTION: Putative mitochondrial ATPase. Plays a role in mitochondrial morphology and mitochondrial protein metabolism. Promotes degradation of excess nuclear-encoded complex IV subunits (COX4I1, COX5A and COX6A1) and normal activity of complexes III and IV of the respiratory chain (PubMed:26759378, PubMed:27323408). Mediates mitochondrial translocation of TP53 and its transcription-independent apoptosis in response to genotoxic stress (PubMed:27323408). {ECO:0000269|PubMed:26759378, ECO:0000269|PubMed:27323408}.
uniprot
proteins
mass_dalton
54845
uniprot
proteins
mutagenesis
MUTAGEN 142; /note="K->A: Does not affect mitochondrial targeting. Increased amount of unprocessed protein form. Fails to rescue the increased accumulation of complex IV subunits in AFG1L-deficient cell line. Reduces mitochondrial targeting; when associated with V-143."; /evidence="ECO:0000269|PubMed:26759378"; MUTAGEN 143; /note="T->V: Reduces mitochondrial targeting. Increased amount of unprocessed protein form. Reduces mitochondrial targeting; when associated with A-142."; /evidence="ECO:0000269|PubMed:26759378"; MUTAGEN 214; /note="E->Q: Does not affect subcellular location. Fails to rescue the increased accumulation of complex IV subunits in AFG1L-deficient cell line."; /evidence="ECO:0000269|PubMed:26759378
uniprot
proteins
protein_family
AFG1 ATPase family
uniprot
proteins
pubmed
12079282
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
26759378
uniprot
proteins
pubmed
27323408
uniprot
proteins
sequence_length
481
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:26759378}.
uniprot
proteins