TOM1
entrez
10043
canonical
uniprot
O60784
canonical
ensembl
ENSG00000100284
resolver
ensp
ENSP00000394466
resolver
ensp
ENSP00000394924
resolver
ensp
ENSP00000398876
resolver
ensp
ENSP00000413697
resolver
ensp
ENSP00000599763
resolver
genesymbol
TOM1
resolver
hgnc
HGNC:11982
resolver
uniprot
B3KUF5
resolver
uniprot
B4DEL9
resolver
uniprot
B4DNA1
resolver
uniprot
Q5TIJ6
resolver
uniprot
Q86X74
resolver
uniprot_entry
B3KUF5_HUMAN
resolver
uniprot_entry
TOM1_HUMAN
resolver
uniprot_sec
B4DEL9
resolver
uniprot_sec
B4DNA1
resolver
uniprot_sec
Q5TIJ6
resolver
uniprot_sec
Q86X74
resolver
amino_acid_sequence
MDFLLGNPFSSPVGQRIEKATDGSLQSEDWALNMEICDIINETEEGPKDALRAVKKRIVGNKNFHEVMLALTVLETCVKNCGHRFHVLVASQDFVESVLVRTILPKNNPPTIVHDKVLNLIQSWADAFRSSPDLTGVVTIYEDLRRKGLEFPMTDLDMLSPIHTPQRTVFNSETQSGQDSVGTDSSQQEDSGQHAAPLPAPPILSGDTPIAPTPEQIGKLRSELEMVSGNVRVMSEMLTELVPTQAEPADLELLQELNRTCRAMQQRVLELIPQIANEQLTEELLIVNDNLNNVFLRHERFERFRTGQTTKAPSEAEPAADLIDMGPDPAATGNLSSQLAGMNLGSSSVRAGLQSLEASGRLEDEFDMFALTRGSSLADQRKEVKYEAPQATDGLAGALDARQQSTGAIPVTQACLMEDIEQWLSTDVGNDAEEPKGVTSEEFDKFLEERAKAADRLPNLSSPSAEGPPGPPSGPAPRKKTQEKDDDMLFAL
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 85 (IMD85) [MIM:619510]: An autosomal dominant immunologic disorder characterized by early-onset autoimmunity and features of combined immunodeficiency such as hypogammaglobulinemia and abnormal T-cell function. Clinical manifestations include atopic eczema and recurrent respiratory infections in the first decade of life, autoimmune enteropathy, growth failure, autoimmune oligoarthritis, interstitial pneumonitis, and EBV viremia. {ECO:0000269|PubMed:31263572}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Adapter protein that plays a role in the intracellular membrane trafficking of ubiquitinated proteins, thereby participating in autophagy, ubiquitination-dependent signaling and receptor recycling pathways (PubMed:14563850, PubMed:15047686, PubMed:23023224, PubMed:25588840, PubMed:26320582, PubMed:31371777). Acts as a MYO6/Myosin VI adapter protein that targets MYO6 to endocytic structures (PubMed:23023224). Together with MYO6, required for autophagosomal delivery of endocytic cargo, the maturation of autophagosomes and their fusion with lysosomes (PubMed:23023224). MYO6 links TOM1 with autophagy receptors, such as TAX1BP1; CALCOCO2/NDP52 and OPTN (PubMed:31371777). Binds to polyubiquitinated proteins via its GAT domain (PubMed:14563850). In a complex with TOLLIP, recruits ubiquitin-conjugated proteins onto early endosomes (PubMed:15047686). The Tom1-Tollip complex may regulate endosomal trafficking by linking polyubiquitinated proteins to clathrin (PubMed:14563850, PubMed:15047686). Mediates clathrin recruitment to early endosomes by ZFYVE16 (PubMed:15657082). Modulates binding of TOLLIP to phosphatidylinositol 3-phosphate (PtdIns(3)P) via binding competition; the association with TOLLIP may favor the release of TOLLIP from endosomal membranes, allowing TOLLIP to commit to cargo trafficking (PubMed:26320582). Acts as a phosphatidylinositol 5-phosphate (PtdIns(5)P) effector by binding to PtdIns(5)P, thereby regulating endosomal maturation (PubMed:25588840). PtdIns(5)P-dependent recruitment to signaling endosomes may block endosomal maturation (PubMed:25588840). Also inhibits Toll-like receptor (TLR) signaling and participates in immune receptor recycling (PubMed:15047686, PubMed:26320582). {ECO:0000269|PubMed:14563850, ECO:0000269|PubMed:15047686, ECO:0000269|PubMed:15657082, ECO:0000269|PubMed:23023224, ECO:0000269|PubMed:25588840, ECO:0000269|PubMed:26320582, ECO:0000269|PubMed:31371777}.
uniprot
proteins
mass_dalton
53818
uniprot
proteins
mutagenesis
MUTAGEN 48..57; /note="KDALRAVKKR->ADALAAVA: Reduced binding to phosphatidylinositol monophosphates."; /evidence="ECO:0000269|PubMed:25588840"; MUTAGEN 223; /note="E->A: Reduced interaction with TOLLIP."; /evidence="ECO:0000269|PubMed:26320582"; MUTAGEN 227; /note="V->A: Reduced interaction with TOLLIP."; /evidence="ECO:0000269|PubMed:26320582"; MUTAGEN 230; /note="N->A: Reduced interaction with TOLLIP. Reduced localization to endosomal vesicles."; /evidence="ECO:0000269|PubMed:26320582"; MUTAGEN 256; /note="E->N: Reduced interaction with UBC/ubiquitin."; /evidence="ECO:0000269|PubMed:16199040"; MUTAGEN 257; /note="L->A: Reduced interaction with TOLLIP."; /evidence="ECO:0000269|PubMed:26320582"; MUTAGEN 264; /note="M->A: Reduced interaction with TOLLIP."; /evidence="ECO:0000269|PubMed:26320582"; MUTAGEN 267; /note="R->A: Reduced interaction with TOLLIP."; /evidence="ECO:0000269|PubMed:26320582"; MUTAGEN 285; /note="L->R,S: Reduced interaction with UBC/ubiquitin."; /evidence="ECO:0000269|PubMed:16199040"; MUTAGEN 289; /note="D->G,R: Reduced interaction with UBC/ubiquitin."; /evidence="ECO:0000269|PubMed:16199040"; MUTAGEN 321..325; /note="Missing: Fails to interact with clathrin heavy chain. Diffuse localization throughout the cell."; /evidence="ECO:0000269|PubMed:14563850"; MUTAGEN 362..364; /note="LED->AEA: Reduced interaction with clathrin heavy chain."; /evidence="ECO:0000269|PubMed:15657082
uniprot
proteins
post_translational_modification
PTM: Monoubiquitinated. {ECO:0000269|PubMed:14563850}.
uniprot
proteins
protein_family
TOM1 family
uniprot
proteins
pubmed
10329004
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
10985773
uniprot
proteins
pubmed
14563850
uniprot
proteins
pubmed
14613930
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15047686
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15657082
uniprot
proteins
pubmed
16199040
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23023224
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25588840
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26320582
uniprot
proteins
pubmed
26977434
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
31263572
uniprot
proteins
pubmed
31371777
uniprot
proteins
sequence_length
492
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14563850, ECO:0000269|PubMed:14613930, ECO:0000269|PubMed:15047686, ECO:0000269|PubMed:26320582, ECO:0000269|PubMed:31263572}. Endosome membrane {ECO:0000269|PubMed:14613930, ECO:0000269|PubMed:15047686, ECO:0000269|PubMed:23023224, ECO:0000269|PubMed:26320582, ECO:0000269|PubMed:31263572}; Peripheral membrane protein {ECO:0000305}. Early endosome membrane {ECO:0000269|PubMed:15047686, ECO:0000269|PubMed:25588840, ECO:0000269|PubMed:26320582}; Peripheral membrane protein {ECO:0000305}. Note=Localized to endo/exosomal vesicles (PubMed:31263572). Enriched on signaling endosomes (PubMed:25588840). Recruited to early endosomes by TOLLIP and by PtdIns(5)P (PubMed:15047686, PubMed:25588840, PubMed:26320582). {ECO:0000269|PubMed:15047686, ECO:0000269|PubMed:25588840, ECO:0000269|PubMed:26320582, ECO:0000269|PubMed:31263572}.
uniprot
proteins