Gene Gene information from NCBI Gene database.
Entrez ID 10043
Gene name Target of myb1 membrane trafficking protein
Gene symbol TOM1
Synonyms (NCBI Gene)
IMD85
Chromosome 22
Chromosome location 22q12.3
Summary This gene was identified as a target of the v-myb oncogene. The encoded protein shares its N-terminal domain in common with proteins associated with vesicular trafficking at the endosome. It is recruited to the endosomes by its interaction with endofin. S
miRNA miRNA information provided by mirtarbase database.
107
miRTarBase ID miRNA Experiments Reference
MIRT000967 hsa-miR-126-3p Luciferase reporter assay 18834857
MIRT000967 hsa-miR-126-3p Luciferase reporter assayqRT-PCRWestern blot 20083669
MIRT000967 hsa-miR-126-3p Reporter assay;Western blot 20083669
MIRT028407 hsa-miR-30a-5p Proteomics 18668040
MIRT046596 hsa-miR-222-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 14563850, 14613930, 15047686, 15657082, 16412388, 19798056, 25416956, 26320582, 31263572, 31515488, 32296183, 32814053, 33961781, 35271311
GO:0005737 Component Cytoplasm IDA 14563850, 15047686, 16412388
GO:0005737 Component Cytoplasm IEA
GO:0005768 Component Endosome IBA
GO:0005768 Component Endosome IDA 15047686, 16412388
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604700 11982 ENSG00000100284
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60784
Protein name Target of Myb1 membrane trafficking protein (Target of Myb protein 1)
Protein 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, PubM
PDB 1ELK , 1WRD , 2N2N , 2N9D , 6J56
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00790 VHS 7 148 VHS domain Domain
PF03127 GAT 228 303 GAT domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highly expressed in skeletal muscle, heart, placenta and liver. {ECO:0000269|PubMed:10329004}.
Sequence
MDFLLGNPFSSPVGQRIEKATDGSLQSEDWALNMEICDIINETEEGPKDALRAVKKRIVG
NKNFHEVMLALTVLETCVKNCGHRFHVLVASQDFVESVLVRTILPKNNPPTIVHDKVLNL
IQSWADAFRSSPDLTGVVTIYEDLRRKG
LEFPMTDLDMLSPIHTPQRTVFNSETQSGQDS
VGTDSSQQEDSGQHAAPLPAPPILSGDTPIAPTPEQIGKLRSELEMVSGNVRVMSEMLTE
LVPTQAEPADLELLQELNRTCRAMQQRVLELIPQIANEQLTEELLIVNDNLNNVFLRHER
FER
FRTGQTTKAPSEAEPAADLIDMGPDPAATGNLSSQLAGMNLGSSSVRAGLQSLEASG
RLEDEFDMFALTRGSSLADQRKEVKYEAPQATDGLAGALDARQQSTGAIPVTQACLMEDI
EQWLSTDVGNDAEEPKGVTSEEFDKFLEERAKAADRLPNLSSPSAEGPPGPPSGPAPRKK
TQEKDDDMLFAL
Sequence length 492
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Immunodeficiency 85 and autoimmunity Pathogenic rs778537779 RCV001597556
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IMMUNE SYSTEM DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IMMUNE SYSTEM DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 12915891, 3103721
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 30185465
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 17671966
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder PSYGENET_DG 17671966
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis Cystic Fibrosis BEFREE 20083669
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Cystic fibrosis Pubtator 20083669 Associate
★☆☆☆☆
Found in Text Mining only
Impaired cognition Impaired Cognition BEFREE 31570577
★☆☆☆☆
Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1 Major Affective Disorder BEFREE 17671966
★☆☆☆☆
Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2 Major Affective Disorder BEFREE 17671966
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 2 Major Affective Disorder PSYGENET_DG 17671966
★★☆☆☆
Found in Text Mining + Unknown/Other Associations