Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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10043
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Target of myb1 membrane trafficking protein |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
TOM1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
IMD85 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
IMD85 |
Chromosome
Chromosome number
|
22 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
22q12.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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 |
UniProt ID |
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 |
|
Sequence length |
492 |
Interactions |
View interactions
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Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Multiple myeloma |
Multiple Myeloma |
rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962, rs751524927, rs1575079076, rs1575446356, rs1478603808, rs1578264146, rs1578673280, rs1579484570, rs1579491104, rs1171390403, rs1582867955, rs764264135, rs951047896, rs890521687, rs1581495906, rs1587941402, rs1003155450, rs1588299621, rs1591100766, rs1591693095, rs1029296641, rs1593107841, rs1208575764, rs1593835248, rs1594406727, rs1594966387, rs1595889508, rs1159294530, rs1597073318, rs1135402871, rs1599413207, rs1418268495, rs1212577459, rs1600394490, rs1455074519, rs1603113792, rs1603415028, rs1602247047, rs1603452612 View all (38 more) |
26007630, 27363682 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Major affective disorder |
MAJOR AFFECTIVE DISORDER 2 |
|
17671966 |
ClinVar |
Immunodeficiency |
immunodeficiency 85 and autoimmunity |
|
|
GenCC |
Diabetes |
Diabetes |
|
|
GWAS |
Inflammatory Bowel Disease |
Inflammatory Bowel Disease |
|
|
GWAS |
Ulcerative colitis |
Ulcerative colitis |
|
|
GWAS |
Psoriasis |
Psoriasis |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Cystic Fibrosis |
Associate
|
20083669 |
Immune Dysregulation Polyendocrinopathy Enteropathy X Linked Syndrome |
Associate
|
33864888 |
|