TOM1 (target of myb1 membrane trafficking protein)

2003-02-01  

Identity

HGNC
TOM1
LOCATION
22q12.3
LOCUSID
10043
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10043
MIM: 604700
HGNC: 11982
Ensembl: ENSG00000100284

Variants:

dbSNP: 10043
ClinVar: 10043
TCGA: ENSG00000100284
COSMIC: TOM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100284ENST00000382034Q6UW50
ENSG00000100284ENST00000395736H7BYN7
ENSG00000100284ENST00000404284F8WAW7
ENSG00000100284ENST00000411850O60784
ENSG00000100284ENST00000424387F8WB30
ENSG00000100284ENST00000425375O60784
ENSG00000100284ENST00000439512F8WE29
ENSG00000100284ENST00000443206B0QY02
ENSG00000100284ENST00000447733O60784
ENSG00000100284ENST00000449058O60784
ENSG00000100284ENST00000449508F8WBB0
ENSG00000100284ENST00000456128B0QY01
ENSG00000100284ENST00000608674V9GZ68
ENSG00000100284ENST00000608749V9GYF4

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
301854652018TOM1 Regulates Neuronal Accumulation of Amyloid-β Oligomers by FcγRIIb2 Variant in Alzheimer's Disease.17
301854652018TOM1 Regulates Neuronal Accumulation of Amyloid-β Oligomers by FcγRIIb2 Variant in Alzheimer's Disease.17
272068842016Immunolocalization of Tom1 in relation to protein degradation systems in Alzheimer's disease.7
272068842016Immunolocalization of Tom1 in relation to protein degradation systems in Alzheimer's disease.7
255888402015TOM1 is a PI5P effector involved in the regulation of endosomal maturation.29
260076302015Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.52
263205822015Tom1 Modulates Binding of Tollip to Phosphatidylinositol 3-Phosphate via a Coupled Folding and Binding Mechanism.14
255888402015TOM1 is a PI5P effector involved in the regulation of endosomal maturation.29
260076302015Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.52
263205822015Tom1 Modulates Binding of Tollip to Phosphatidylinositol 3-Phosphate via a Coupled Folding and Binding Mechanism.14
230232242012Autophagy receptors link myosin VI to autophagosomes to mediate Tom1-dependent autophagosome maturation and fusion with the lysosome.160
230232242012Autophagy receptors link myosin VI to autophagosomes to mediate Tom1-dependent autophagosome maturation and fusion with the lysosome.160
200836692010miR-126 is downregulated in cystic fibrosis airway epithelial cells and regulates TOM1 expression.88
200836692010miR-126 is downregulated in cystic fibrosis airway epithelial cells and regulates TOM1 expression.88
176719662008Gene-based SNP mapping of a psychotic bipolar affective disorder linkage region on 22q12.3: association with HMG2L1 and TOM1.6

Citation

Dessen P

TOM1 (target of myb1 membrane trafficking protein)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42654/case-report-explorer/js/css/lib/bootstrap.min.css