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The protein encoded by this gene contains a RING finger motif and is highly similar to the ring finger proteins RNF28/MURF1 and RNF29/MURF2. In vitro studies demonstrated that this protein, RNF28, and RNF29 form heterodimers, which may be important for the regulation of titin kinase and microtubule-dependent signal pathways in striated muscles. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
TRIM54 (Tripartite Motif Containing 54) is a Protein Coding gene. Diseases associated with TRIM54 include Cardiac Rupture. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and microtubule binding. An important paralog of this gene is TRIM55.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO:0008017 | microtubule binding | IEA | -- |
GO:0008270 | zinc ion binding | NAS | 11243782 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005874 | microtubule | NAS | 11243782 |
GO:0005875 | microtubule associated complex | IEA | -- |
GO:0030018 | Z disc | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007017 | microtubule-based process | NAS | 11243782 |
GO:0007026 | negative regulation of microtubule depolymerization | NAS,IEA | 11243782 |
GO:0007165 | signal transduction | NAS | 11243782 |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0030154 | cell differentiation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
2-CHLORO-N-(3-CYANO-5,6-DIHYDRO-4H-CYCLOPENTA[B]THIOPHEN-2-YL)-5-DIETHYLSULFAMOYL-BENZAMIDE | Experimental | Pharma | Target | 0 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | TRIM54 33 32 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | -- 33 |
|
ManyToMany | |
dog (Canis familiaris) |
Mammalia | TRIM54 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | TRIM54 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Trim54 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Trim54 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
ManyToMany | |
-- 33 |
|
ManyToMany | |||
lizard (Anolis carolinensis) |
Reptilia | -- 33 |
|
ManyToMany | |
zebrafish (Danio rerio) |
Actinopterygii | trim54 32 |
|
||
zgc:56376 33 |
|
ManyToMany | |||
trim63 33 |
|
ManyToMany | |||
trim101 33 |
|
ManyToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany |
SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1337492672 | uncertain-significance, not provided | 27,306,455(+) | G/A | splice_acceptor_variant | |
rs750473735 | uncertain-significance, not provided | 27,299,416(+) | GG/G | coding_sequence_variant, splice_donor_variant | |
rs1000315119 | -- | 27,291,597(+) | A/G | intron_variant | |
rs1000357262 | -- | 27,298,948(+) | C/T | intron_variant | |
rs1000389603 | -- | 27,305,406(+) | T/G | intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2571212 | CNV | insertion | 19546169 |
esv2719835 | CNV | deletion | 23290073 |
esv33516 | CNV | gain | 17666407 |
esv3590134 | CNV | loss | 21293372 |
nsv833614 | CNV | gain | 17160897 |
nsv955086 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cardiac rupture |
|
|