TMBIM1 (transmembrane BAX inhibitor motif containing 1)

2009-11-01  

Identity

HGNC
TMBIM1
LOCATION
2q35
LOCUSID
64114
ALIAS
LFG3,MST100,MSTP100,PP1201,RECS1

Other Information

Locus ID:

NCBI: 64114
MIM: 610364
HGNC: 23410
Ensembl: ENSG00000135926

Variants:

dbSNP: 64114
ClinVar: 64114
TCGA: ENSG00000135926
COSMIC: TMBIM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135926ENST00000258412Q969X1
ENSG00000135926ENST00000258412A0A024R472
ENSG00000135926ENST00000396809Q969X1
ENSG00000135926ENST00000396809A0A024R472
ENSG00000135926ENST00000413976C9JM62
ENSG00000135926ENST00000418569C9IZ27
ENSG00000135926ENST00000420341A0A1D5RMQ2
ENSG00000135926ENST00000425694C9JW19
ENSG00000135926ENST00000429501C9JWV9
ENSG00000135926ENST00000434015C9JAK9
ENSG00000135926ENST00000437694B4DUD2
ENSG00000135926ENST00000439306F8WDY4
ENSG00000135926ENST00000440422C9IYT2
ENSG00000135926ENST00000444000C9JDV0
ENSG00000135926ENST00000444183C9JEN3
ENSG00000135926ENST00000444881Q969X1
ENSG00000135926ENST00000444881A0A024R472
ENSG00000135926ENST00000445635B3KSM0
ENSG00000135926ENST00000451181C9JN47
ENSG00000135926ENST00000453281C9JI44
ENSG00000135926ENST00000453776C9JAP5

Expression (GTEx)

0
50
100
150
200
250
300
350
400
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
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
257649782015The transmembrane Bax inhibitor motif (TMBIM) containing protein family: Tissue expression, intracellular localization and effects on the ER CA²⁺-filling state.23
284813572017Tmbim1 is a multivesicular body regulator that protects against non-alcoholic fatty liver disease in mice and monkeys by targeting the lysosomal degradation of Tlr4.23
270054242016Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.15
211077052011A shear stress responsive gene product PP1201 protects against Fas-mediated apoptosis by reducing Fas expression on the cell surface.10
184408692008Comparative genomics and function analysis on BI1 family.9
309300642019Ion and pH Sensitivity of a TMBIM Ca2+ Channel.3
304479062019Genetic variant of TMBIM1 is associated with the susceptibility of colorectal cancer in the Chinese population.0

Citation

Dessen P

TMBIM1 (transmembrane BAX inhibitor motif containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-11-01

Online version: http://atlasgeneticsoncology.org/gene/51179/tmbim1