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 ... See more...

Aliases for TRIM54 Gene

Aliases for TRIM54 Gene

  • Tripartite Motif Containing 54 2 3 5
  • MURF 2 3 4
  • Tripartite Motif-Containing Protein 54 3 4
  • Muscle-Specific RING Finger Protein 3 3 4
  • Ring Finger Protein 30 2 3
  • MURF-3 2 3
  • RNF30 3 4
  • MuRF3 3 4
  • Muscle-Specific RING Finger Protein 4
  • Tripartite Motif-Containing 54 2
  • RING Finger Protein 30 4
  • TRIM54 5
  • MuRF-3 4
  • MURF3 4
  • MuRF 4

External Ids for TRIM54 Gene

Previous HGNC Symbols for TRIM54 Gene

  • RNF30

Previous GeneCards Identifiers for TRIM54 Gene

  • GC02P027418
  • GC02P027506
  • GC02P027247

Summaries for TRIM54 Gene

Entrez Gene Summary for TRIM54 Gene

  • 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]

GeneCards Summary for TRIM54 Gene

TRIM54 (Tripartite Motif Containing 54) is a Protein Coding gene. Diseases associated with TRIM54 include Cylindrical Spirals Myopathy and Hyaline Body Myopathy. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and microtubule binding. An important paralog of this gene is TRIM55.

UniProtKB/Swiss-Prot Summary for TRIM54 Gene

Additional gene information for TRIM54 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRIM54 Gene

Genomics for TRIM54 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TRIM54 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J027280 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 600.7 +1.1 1115 5.7 HNRNPL PRDM10 ZSCAN4 CTCF ZNF341 HMBOX1 NFE2 MCM3 ZNF316 MAFF TRIM54 ATRAID EMILIN1 GTF3C2 GPN1 NRBP1 CAD SNX17 EIF2B4 TMEM214
GH02J027281 Enhancer 0.8 ENCODE dbSUPER 600.7 -1.9 -1918 0.2 JUND CTCF CTBP1 NR2C2 EP400 FOSL1 MXD4 NR2F6 ATF3 PRDM10 TRIM54 SLC30A3 DNAJC5G NONHSAG027316.2
GH02J027069 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 -203.0 -202967 20.9 ARHGAP35 SP1 CREB1 GATAD2A CTCF HNRNPL TEAD4 PRDM10 ZNF629 REST KHK EMILIN1 OST4 MN297632 CAD GTF3C2 NRBP1 SNX17 ENSG00000234072 ATRAID
GH02J027090 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 -188.7 -188662 6.3 HNRNPL GATAD2A REST TFE3 SIX5 LEF1 SOX13 IKZF1 NFKBIZ RCOR2 KHK CAD ENSG00000234072 GTF3C2 SNX17 ATRAID GTF3C2-AS1 ZNF513 GPN1 EIF2B4
GH02J027249 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 11.7 -32.5 -32525 1.8 HNRNPL GATAD2A CTCF ZBTB33 TFE3 ZNF692 JUND PRDM1 ZNF143 ZIC2 ATRAID CAD SLC5A6 DNAJC5G TRIM54 SLC30A3 UCN MPV17 GTF3C2-AS1 GTF3C2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRIM54 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRIM54

Top Transcription factor binding sites by QIAGEN in the TRIM54 gene promoter:
  • AML1a
  • CREB
  • deltaCREB
  • E2F
  • E2F-1
  • GR
  • Lmo2
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for TRIM54 Gene

Genomic Locations for TRIM54 Gene
chr2:27,282,429-27,307,439
(GRCh38/hg38)
Size:
25,011 bases
Orientation:
Plus strand
chr2:27,505,260-27,530,307
(GRCh37/hg19)
Size:
25,048 bases
Orientation:
Plus strand

Genomic View for TRIM54 Gene

Genes around TRIM54 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRIM54 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRIM54 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRIM54 Gene

Proteins for TRIM54 Gene

  • Protein details for TRIM54 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYV2-TRI54_HUMAN
    Recommended name:
    Tripartite motif-containing protein 54
    Protein Accession:
    Q9BYV2
    Secondary Accessions:
    • A5D8T7
    • Q53SY4
    • Q9BYV3

    Protein attributes for TRIM54 Gene

    Size:
    358 amino acids
    Molecular mass:
    40301 Da
    Quaternary structure:
    • Homooligomer and heterooligomer. Interacts with tubulin (By similarity). Interacts with TRIM63 and probably with TRIM55.
    SequenceCaution:
    • Sequence=AAY24296.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAC32841.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAC32842.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TRIM54 Gene

    Alternative splice isoforms for TRIM54 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRIM54 Gene

Post-translational modifications for TRIM54 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TRIM54 Gene

No data available for DME Specific Peptides for TRIM54 Gene

Domains & Families for TRIM54 Gene

Gene Families for TRIM54 Gene

Protein Domains for TRIM54 Gene

InterPro:
Blocks:
  • Zn-finger, RING
  • B-box zinc finger signature
ProtoNet:

Suggested Antigen Peptide Sequences for TRIM54 Gene

GenScript: Design optimal peptide antigens:
  • RING finger protein 30 (TRI54_HUMAN)
genes like me logo Genes that share domains with TRIM54: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TRIM54 Gene

Function for TRIM54 Gene

Molecular function for TRIM54 Gene

UniProtKB/Swiss-Prot Function:
May bind and stabilize microtubules during myotubes formation.

Phenotypes From GWAS Catalog for TRIM54 Gene

Gene Ontology (GO) - Molecular Function for TRIM54 Gene

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:0061630 ubiquitin protein ligase activity IBA 21873635
genes like me logo Genes that share ontologies with TRIM54: view
genes like me logo Genes that share phenotypes with TRIM54: view

Animal Models for TRIM54 Gene

MGI Knock Outs for TRIM54:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRIM54

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for TRIM54 Gene

Localization for TRIM54 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRIM54 Gene

Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Note=Associates with microtubules. Localizes to the Z-lines in skeletal muscles (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRIM54 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 3
mitochondrion 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TRIM54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule NAS 11243782
GO:0005875 microtubule associated complex IEA --
GO:0030018 Z disc IEA --
genes like me logo Genes that share ontologies with TRIM54: view

Pathways & Interactions for TRIM54 Gene

PathCards logo

SuperPathways for TRIM54 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TRIM54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007017 microtubule-based process NAS 11243782
GO:0007026 negative regulation of microtubule depolymerization IEA,NAS 11243782
GO:0007165 signal transduction NAS 11243782
GO:0007275 multicellular organism development IEA --
GO:0016567 protein ubiquitination IBA 21873635
genes like me logo Genes that share ontologies with TRIM54: view

No data available for Pathways by source and SIGNOR curated interactions for TRIM54 Gene

Drugs & Compounds for TRIM54 Gene

(1) Drugs for TRIM54 Gene - From: DrugBank

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
genes like me logo Genes that share compounds with TRIM54: view

Transcripts for TRIM54 Gene

mRNA/cDNA for TRIM54 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRIM54

Alternative Splicing Database (ASD) splice patterns (SP) for TRIM54 Gene

No ASD Table

Relevant External Links for TRIM54 Gene

GeneLoc Exon Structure for
TRIM54

Expression for TRIM54 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRIM54 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TRIM54 Gene

This gene is overexpressed in Muscle - Skeletal (x30.1), Heart - Left Ventricle (x13.0), and Heart - Atrial Appendage (x5.2).

Protein differential expression in normal tissues from HIPED for TRIM54 Gene

This gene is overexpressed in Heart (48.7) and Fetal heart (20.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TRIM54 Gene



Protein tissue co-expression partners for TRIM54 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRIM54

SOURCE GeneReport for Unigene cluster for TRIM54 Gene:

Hs.516036

mRNA Expression by UniProt/SwissProt for TRIM54 Gene:

Q9BYV2-TRI54_HUMAN
Tissue specificity: Specifically expressed in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for TRIM54 Gene

  • Muscle(3.7)
  • Heart(3.2)
genes like me logo Genes that share expression patterns with TRIM54: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TRIM54 Gene

Orthologs for TRIM54 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TRIM54 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TRIM54 30 31
  • 99.44 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 93 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia TRIM54 30 31
  • 92.74 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TRIM54 30 31
  • 91.69 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Trim54 30 17 31
  • 89.66 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Trim54 30
  • 89.57 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 89 (a)
ManyToMany
-- 31
  • 47 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 38 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii trim54 30
  • 68.58 (n)
zgc:56376 31
  • 52 (a)
ManyToMany
trim63 31
  • 50 (a)
ManyToMany
trim101 31
  • 38 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 52 (a)
OneToMany
Species where no ortholog for TRIM54 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TRIM54 Gene

ENSEMBL:
Gene Tree for TRIM54 (if available)
TreeFam:
Gene Tree for TRIM54 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRIM54: view image

Paralogs for TRIM54 Gene

(2) SIMAP similar genes for TRIM54 Gene using alignment to 1 proteins:

  • TRI54_HUMAN
genes like me logo Genes that share paralogs with TRIM54: view

Variants for TRIM54 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRIM54 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
775706 Benign: not provided 27,304,982(+) G/A SYNONYMOUS_VARIANT
871083 Uncertain Significance: not provided 27,299,297(+) G/T NONSENSE
rs1337492672 Uncertain Significance: not provided 27,306,455(+) G/A SPLICE_ACCEPTOR_VARIANT
rs750473735 Uncertain Significance: not provided 27,299,415(+) AG/A SPLICE_DONOR_VARIANT

Additional dbSNP identifiers (rs#s) for TRIM54 Gene

Structural Variations from Database of Genomic Variants (DGV) for TRIM54 Gene

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

Variation tolerance for TRIM54 Gene

Residual Variation Intolerance Score: 57.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.56; 30.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRIM54 Gene

Human Gene Mutation Database (HGMD)
TRIM54
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRIM54

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRIM54 Gene

Disorders for TRIM54 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TRIM54 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cylindrical spirals myopathy
  • myotonic myopathy with cylindrical spirals
hyaline body myopathy
  • myosin storage myopathy
myopathy, myofibrillar, 9, with early respiratory failure
  • mfm9
cardiac rupture
  • myocardial rupture
myopathy
  • muscular diseases
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with TRIM54: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TRIM54 Gene

Publications for TRIM54 Gene

  1. Identification of muscle specific ring finger proteins as potential regulators of the titin kinase domain. (PMID: 11243782) Centner T … Labeit S (Journal of molecular biology 2001) 2 3 4
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3
  5. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. (PMID: 31391242) Nowak M … Sommer T (Journal of cell science 2019) 3

Products for TRIM54 Gene

Sources for TRIM54 Gene