Human Gene TRIM72 (uc002ebn.2) Description and Page Index
  Description: Homo sapiens tripartite motif containing 72 (TRIM72), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr16:31,225,342-31,236,510 Size: 11,169 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr16:31,226,060-31,236,076 Size: 10,017 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr16:31,225,342-31,236,510)mRNA (may differ from genome)Protein (477 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Tripartite motif-containing protein 72; AltName: Full=Mitsugumin-53; Short=Mg53;
FUNCTION: Muscle-specific protein that plays a central role in cell membrane repair by nucleating the assembly of the repair machinery at injury sites. Specifically binds phosphatidylserine. Acts as a sensor of oxidation: upon membrane damage, entry of extracellular oxidative environment results in disulfide bond formation and homooligomerization at the injury site. This oligomerization acts as a nucleation site for recruitment of TRIM72-containing vesicles to the injury site, leading to membrane patch formation. Probably acts upstream of the Ca(2+)-dependent membrane resealing process. Required for transport of DYSF to sites of cell injury during repair patch formation. Regulates membrane budding and exocytosis. May be involved in the regulation of the mobility of KCNB1-containing endocytic vesicles (By similarity).
SUBUNIT: Homooligomer; disulfide-linked. Interacts with DYSF and CAV3 (By similarity).
SUBCELLULAR LOCATION: Cell membrane, sarcolemma (By similarity). Cytoplasmic vesicle membrane (By similarity). Note=Tethered to plasma membrane and cytoplasmic vesicles via its interaction with phosphatidylserine (By similarity).
PTM: Disulfide bond formation at Cys-242 occurs in case of membrane damage that cause the entry of the oxidized milieu of the extracellular space, resulting in homooligomerization (By similarity).
SIMILARITY: Belongs to the TRIM/RBCC family.
SIMILARITY: Contains 1 B box-type zinc finger.
SIMILARITY: Contains 1 B30.2/SPRY domain.
SIMILARITY: Contains 1 RING-type zinc finger.
SEQUENCE CAUTION: Sequence=BAC03506.1; Type=Erroneous initiation;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TRIM72
CDC HuGE Published Literature: TRIM72

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.64 RPKM in Muscle - Skeletal
Total median expression: 41.80 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -101.40284-0.357 Picture PostScript Text
3' UTR -196.90434-0.454 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001870 - B30.2/SPRY
IPR003879 - Butyrophylin
IPR008985 - ConA-like_lec_gl_sf
IPR006574 - PRY
IPR003877 - SPRY_rcpt
IPR000315 - Znf_B-box
IPR001841 - Znf_RING
IPR017907 - Znf_RING_CS

Pfam Domains:
PF00097 - Zinc finger, C3HC4 type (RING finger)
PF00622 - SPRY domain
PF00643 - B-box zinc finger
PF13445 - RING-type zinc-finger
PF13765 - SPRY-associated domain
PF15227 - zinc finger of C3HC4-type, RING

SCOP Domains:
57845 - B-box zinc-binding domain
57850 - RING/U-box

Protein Data Bank (PDB) 3-D Structure
MuPIT help

- X-ray MuPIT

ModBase Predicted Comparative 3D Structure on Q6ZMU5
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001786 phosphatidylserine binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0031624 ubiquitin conjugating enzyme binding
GO:0046872 metal ion binding
GO:0061630 ubiquitin protein ligase activity

Biological Process:
GO:0001778 plasma membrane repair
GO:0003012 muscle system process
GO:0006887 exocytosis
GO:0006936 muscle contraction
GO:0007517 muscle organ development
GO:0010832 negative regulation of myotube differentiation
GO:0016567 protein ubiquitination
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0043569 negative regulation of insulin-like growth factor receptor signaling pathway
GO:0046627 negative regulation of insulin receptor signaling pathway
GO:0051260 protein homooligomerization

Cellular Component:
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030659 cytoplasmic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0042383 sarcolemma

-  Descriptions from all associated GenBank mRNAs
  LF207926 - JP 2014500723-A/15429: Polycomb-Associated Non-Coding RNAs.
BC033211 - Homo sapiens tripartite motif-containing 72, mRNA (cDNA clone MGC:45868 IMAGE:4906353), complete cds.
AK131485 - Homo sapiens cDNA FLJ16664 fis, clone THYMU2006001, weakly similar to ZINC-BINDING PROTEIN A33.
LF370075 - JP 2014500723-A/177578: Polycomb-Associated Non-Coding RNAs.
LF207927 - JP 2014500723-A/15430: Polycomb-Associated Non-Coding RNAs.
CU689618 - Synthetic construct Homo sapiens gateway clone IMAGE:100022381 5' read TRIM72 mRNA.
KJ904312 - Synthetic construct Homo sapiens clone ccsbBroadEn_13706 TRIM72 gene, encodes complete protein.
AK090695 - Homo sapiens cDNA FLJ33376 fis, clone BRACE2006162.
AX746578 - Sequence 103 from Patent EP1308459.
JD497112 - Sequence 478136 from Patent EP1572962.
JD275358 - Sequence 256382 from Patent EP1572962.
JD275359 - Sequence 256383 from Patent EP1572962.
JD472506 - Sequence 453530 from Patent EP1572962.
MA605652 - JP 2018138019-A/177578: Polycomb-Associated Non-Coding RNAs.
MA443503 - JP 2018138019-A/15429: Polycomb-Associated Non-Coding RNAs.
MA443504 - JP 2018138019-A/15430: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q6ZMU5 (Reactome details) participates in the following event(s):

R-HSA-5263633 DYSF, CAV3 and TRIM72 bind
R-HSA-5263628 CAV3:TRIM72:DYSF binds ANXAs
R-HSA-445355 Smooth Muscle Contraction
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: MG53, NM_001008274, NP_001008275, Q6ZMU5, Q8N4X6, Q8NBD9, TRI72_HUMAN
UCSC ID: uc002ebn.2
RefSeq Accession: NM_001008274
Protein: Q6ZMU5 (aka TRI72_HUMAN)
CCDS: CCDS32437.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_001008274.3
exon count: 7CDS single in 3' UTR: no RNA size: 2152
ORF size: 1434CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3011.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.