1. Gene
  2. TOM1 - target of myb1 membrane trafficking protein Gene

TOM1 - target of myb1 membrane trafficking protein Gene

Homo sapiens

Also known as IMD85

Gene ID: 10043 | Gene type: protein coding

About TOM1

Cytogenetic location: 22q12.3 Genomic coordinates (GRCh38): 22:35,299,275-35,347,973 (from NCBI)

This gene has 18 transcripts (splice variants), 221 orthologues, 10 paralogues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 24.4), esophagus (RPKM 24.1) and 25 other tissues.

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. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

TOM1 Products(4)

mRNA Protein Name
NM_001135729.2 NP_001129201.1 target of Myb1 membrane trafficking protein isoform 3
NM_001135730.2 NP_001129202.1 target of Myb1 membrane trafficking protein isoform 4
NM_001135732.2 NP_001129204.1 target of Myb1 membrane trafficking protein isoform 2
NM_005488.3 NP_005479.1 target of Myb1 membrane trafficking protein isoform 1

TOM1 Protein Structure

VHS

VHS: VHS domain (8 - 148)

GAT

GAT: GAT domain (213 - 311)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 492 a.a.
Protein Preferred Names Protein Names

target of Myb1 membrane trafficking protein

target of Myb protein 1

target of myb 1

Related Diseases

Diseases Alias
Immunodeficiency 85 And Autoimmunity

IMD85

Immunodeficiency 85

Immunodeficiency 31c

IMD31C

Candidiasis, Familial, 7

Candf7

Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant

Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome

Autoimmune Enteropathy And Endocrinopathy - Susceptibility To Chronic Infections Syndrome

Immunodeficiency 31c, Chronic Mucocutaneous Candidiasis, Autosomal Dominant

Autosomal Dominant Chronic Mucocutaneous Familial Candidiasis

Autosomal Dominant Immunodeficiency 31c

Familial Candidiasis 7

Chronic Mucocutaneous Candidiasis 7

Immunodeficiency 31c, Autosomal Dominant

Immunodeficiency, Type 31c, Autosomal Dominant

Autoimmune Enteropathy
Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

X-Linked Nephrolithiasis Type I

Nephrolithiasis 1

Nephrolithiasis X-Linked Recessive Type 1

Nphl1

X-Linked Nephrolithiasis With Renal Failure

X-Linked Recessive Urolithiasis Type 1

Xrn

Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A6

Mddga6

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Large-Related

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A6

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus TOM1 VGNC VGNC:66441
Macaca mulatta TOM1 VGNC VGNC:78615
Mus musculus TOM1 MGD MGI:1338026
Rattus norvegicus TOM1 RGD RGD:1308024
Canis familiaris TOM1 VGNC VGNC:47707
Bos taurus TOM1 VGNC VGNC:36217