TMBIM1 (transmembrane BAX inhibitor motif containing 1)

2009-11-01  

Identity

HGNC
LOCATION
2q35
LOCUSID
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

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

References

Pubmed IDYearTitleCitations
378239512024MicroRNA-582-3p knockdown alleviates non-alcoholic steatohepatitis by altering the gut microbiota composition and moderating TMBIM1.1
378239512024MicroRNA-582-3p knockdown alleviates non-alcoholic steatohepatitis by altering the gut microbiota composition and moderating TMBIM1.1
340990682021Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences.7
340990682021Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences.7
304479062019Genetic variant of TMBIM1 is associated with the susceptibility of colorectal cancer in the Chinese population.3
304479062019Genetic variant of TMBIM1 is associated with the susceptibility of colorectal cancer in the Chinese population.3
284813572017Tmbim1 is a multivesicular body regulator that protects against non-alcoholic fatty liver disease in mice and monkeys by targeting the lysosomal degradation of Tlr4.48
284813572017Tmbim1 is a multivesicular body regulator that protects against non-alcoholic fatty liver disease in mice and monkeys by targeting the lysosomal degradation of Tlr4.48
270054242016Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.26
270054242016Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.26
257649782015The transmembrane Bax inhibitor motif (TMBIM) containing protein family: Tissue expression, intracellular localization and effects on the ER CA²⁺-filling state.40
257649782015The transmembrane Bax inhibitor motif (TMBIM) containing protein family: Tissue expression, intracellular localization and effects on the ER CA²⁺-filling state.40
211077052011A shear stress responsive gene product PP1201 protects against Fas-mediated apoptosis by reducing Fas expression on the cell surface.0
211077052011A shear stress responsive gene product PP1201 protects against Fas-mediated apoptosis by reducing Fas expression on the cell surface.0
184408692008Comparative genomics and function analysis on BI1 family.10

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