Gene Gene information from NCBI Gene database.
Entrez ID 57159
Gene name Tripartite motif containing 54
Gene symbol TRIM54
Synonyms (NCBI Gene)
MURFMURF-3RNF30muRF3
Chromosome 2
Chromosome location 2p23.3
Summary 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 th
miRNA miRNA information provided by mirtarbase database.
4
miRTarBase ID miRNA Experiments Reference
MIRT437475 rno-miR-19b-3p Luciferase reporter assay 24117217
MIRT437475 rno-miR-19b-3p Luciferase reporter assay 24117217
MIRT437476 rno-miR-19a-3p Luciferase reporter assay 24117217
MIRT437476 rno-miR-19a-3p Luciferase reporter assay 24117217
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 25910212, 29892012, 31391242, 31515488, 32296183, 36217029
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005874 Component Microtubule IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606474 16008 ENSG00000138100
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BYV2
Protein name Tripartite motif-containing protein 54 (Muscle-specific RING finger protein) (MuRF) (Muscle-specific RING finger protein 3) (MuRF-3) (MuRF3) (RING finger protein 30)
Protein function May bind and stabilize microtubules during myotubes formation.
PDB 3Q1D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13445 zf-RING_UBOX 26 79 RING-type zinc-finger Domain
PF00643 zf-B_box 121 163 B-box zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in heart and skeletal muscle. {ECO:0000269|PubMed:11243782}.
Sequence
MNFTVGFKPLLGDAHSMDNLEKQLICPICLEMFSKPVVILPCQHNLCRKCANDVFQASNP
LWQSRGSTTVSSGGRFRCP
SCRHEVVLDRHGVYGLQRNLLVENIIDIYKQESSRPLHSKA
EQHLMCEEHEEEKINIYCLSCEVPTCSLCKVFGAHKDCEVAPLPTIYKRQKSELSDGIAM
LVAGNDRVQAVITQMEEVCQTIEDNSRRQKQLLNQRFESLCAVLEERKGELLQALAREQE
EKLQRVRGLIRQYGDHLEASSKLVESAIQSMEEPQMALYLQQAKELINKVGAMSKVELAG
RPEPGYESMEQFTVRVEHVAEMLRTIDFQPGASGEEEEVAPDGEEGSAGPEEERPDGP
Sequence length 358
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Cytoskeleton in muscle cells  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NAVAJO NEUROHEPATOPATHY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TRIM54-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis, Gouty Gouty arthritis GWASDB_DG 23263486
★☆☆☆☆
Found in Text Mining only
Gout Gout GWASDB_DG 23263486
★☆☆☆☆
Found in Text Mining only
Myopathy Myopathy BEFREE 25801283
★☆☆☆☆
Found in Text Mining only
MYOPATHY, MYOSIN STORAGE (disorder) Myosin storage myopathy BEFREE 25801283
★☆☆☆☆
Found in Text Mining only
Non-Small Cell Lung Carcinoma Lung carcinoma BEFREE 26599082
★☆☆☆☆
Found in Text Mining only