TOMM7
entrez
54543
canonical
uniprot
Q9P0U1
canonical
ensembl
ENSG00000196683
resolver
ensp
ENSP00000351214
resolver
enst
ENST00000358435
resolver
genesymbol
TOMM7
resolver
genesymbol_syn
TOM7
resolver
genesymbol_syn
TOMM07
resolver
hgnc
HGNC:21648
resolver
uniprot
O95939
resolver
uniprot
Q75MR5
resolver
uniprot_entry
Q75MR5_HUMAN
resolver
uniprot_entry
TOM7_HUMAN
resolver
uniprot_sec
O95939
resolver
amino_acid_sequence
MVKLSKEAKQRLQQLFKGSQFAIRWGFIPLVIYLGFKRGADPGMPEPTVLSLLWG
uniprot
proteins
disease_involvement
DISEASE: Garg-Mishra progeroid syndrome (GMPGS) [MIM:620601]: An autosomal recessive syndrome characterized by a progeroid appearance, severe dwarfism, mandibular hypoplasia, hyperopia, and partial lipodystrophy. {ECO:0000269|PubMed:36282599, ECO:0000269|PubMed:36299998}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the translocase of the outer membrane of mitochondria (TOM) complex essential for the recognition and translocation of cytosolically synthesized mitochondrial preproteins (PubMed:40080546). The TOM complex associates with the ion channel VDAC2 and PINK1 kinase at depolarized mitochondria, this interaction stabilizes PINK1 at the outer mitochondrial membrane and triggers downstream mitophagy by the recruitment of the E3 ubiquitin ligase PRKN (PubMed:40080546). {ECO:0000269|PubMed:18331822, ECO:0000269|PubMed:24270810, ECO:0000269|PubMed:40080546}.
uniprot
proteins
mass_dalton
6248
uniprot
proteins
protein_family
Tom7 family
uniprot
proteins
pubmed
10647823
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
12198123
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18331822
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24270810
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
36282599
uniprot
proteins
pubmed
36299998
uniprot
proteins
pubmed
40080546
uniprot
proteins
sequence_length
55
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:12198123}; Single-pass membrane protein {ECO:0000269|PubMed:12198123, ECO:0000269|PubMed:40080546}.
uniprot
proteins
transmembrane_region
TRANSMEM 21..36; /note="Helical"; /evidence="ECO:0000269|PubMed:40080546, ECO:0007744|PDB:9EIH, ECO:0007744|PDB:9EII, ECO:0007744|PDB:9EIJ
uniprot
proteins