TRIM72 (tripartite motif containing 72)

2009-09-01  

Identity

HGNC
LOCATION
16p11.2
LOCUSID
ALIAS
MG53

Other Information

Locus ID:

NCBI: 493829
MIM: 613288
HGNC: 32671
Ensembl: ENSG00000177238

Variants:

dbSNP: 493829
ClinVar: 493829
TCGA: ENSG00000177238
COSMIC: TRIM72

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177238ENST00000322122Q6ZMU5
ENSG00000177238ENST00000613872Q6ZMU5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Muscle contractionREACTOMER-HSA-397014
Smooth Muscle ContractionREACTOMER-HSA-445355

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
191291742009Evaluation of imputation-based association in and around the integrin-alpha-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE).42
214121702011Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.40
222534762012Nonmuscle myosin IIA facilitates vesicle trafficking for MG53-mediated cell membrane repair.38
243441302014Mitsugumin 53 (MG53) ligase ubiquitinates focal adhesion kinase during skeletal myogenesis.16
236999042013TRIM proteins in therapeutic membrane repair of muscular dystrophy.15
292680302018Inhibition of Macrophage Complement Receptor CRIg by TRIM72 Polarizes Innate Immunity of the Lung.4
199677862010Crystal structure of PRY-SPRY domain of human TRIM72.0
213433022011Polymerase transcriptase release factor (PTRF) anchors MG53 protein to cell injury site for initiation of membrane repair.0
258691342015Zinc Binding to MG53 Protein Facilitates Repair of Injury to Cell Membranes.0
263060472015Modulation of wound healing and scar formation by MG53 protein-mediated cell membrane repair.0

Citation

Dessen P

TRIM72 (tripartite motif containing 72)

Atlas Genet Cytogenet Oncol Haematol. 2009-09-01

Online version: http://atlasgeneticsoncology.org/gene/51078/trim72