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    TRIM54 tripartite motif containing 54 [ Homo sapiens (human) ]

    Gene ID: 57159, updated on 7-Apr-2024

    Summary

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    Official Symbol
    TRIM54provided by HGNC
    Official Full Name
    tripartite motif containing 54provided by HGNC
    Primary source
    HGNC:HGNC:16008
    See related
    Ensembl:ENSG00000138100 MIM:606474; AllianceGenome:HGNC:16008
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MURF; RNF30; muRF3; MURF-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 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]
    Expression
    Biased expression in heart (RPKM 35.4), testis (RPKM 5.2) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TRIM54 in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27282429..27307435)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27322074..27349850)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27505297..27530303)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11291 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:27454350-27455549 Neighboring gene carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:27465505-27466704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27472326-27473120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27473121-27473914 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11293 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11294 Neighboring gene solute carrier family 30 member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11295 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11296 Neighboring gene DnaJ heat shock protein family (Hsp40) member C5 gamma Neighboring gene ReSE screen-validated silencer GRCh37_chr2:27524348-27524553 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27543343-27543946 Neighboring gene Sharpr-MPRA regulatory regions 9483 and 12628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15498 Neighboring gene mitochondrial inner membrane protein MPV17 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27545801-27546773 Neighboring gene urocortin Neighboring gene general transcription factor IIIC subunit 2 Neighboring gene GTF3C2 antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Tripartite motif-containing 54 promotes gastric cancer progression by upregulating K63-linked ubiquitination of filamin C. Cao H, et al. Asia Pac J Clin Oncol, 2022 Dec. PMID 35098666
    2. Targeting TRIM54/Axin1/β-Catenin Axis Prohibits Proliferation and Metastasis in Hepatocellular Carcinoma. Zhu J, et al. Front Oncol, 2021. PMID 34956880, Free PMC Article
    3. New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations. Olivé M, et al. Hum Mol Genet, 2015 Jul 1. PMID 25801283
    4. Regulation of microtubule dynamics and myogenic differentiation by MURF, a striated muscle RING-finger protein. Spencer JA, et al. J Cell Biol, 2000 Aug 21. PMID 10953002, Free PMC Article
    5. Identification of muscle specific ring finger proteins as potential regulators of the titin kinase domain. Centner T, et al. J Mol Biol, 2001 Mar 2. PMID 11243782

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Sorafenib induces ferroptosis by promoting TRIM54-mediated FSP1 ubiquitination and degradation in hepatocellular carcinoma.
      Title: Sorafenib induces ferroptosis by promoting TRIM54-mediated FSP1 ubiquitination and degradation in hepatocellular carcinoma.
    2. A novel protein aggregate myopathies and cardiomyopathy resulting from combined homozygous MuRF1 null mutation and heterozygous MuRF3 missense mutation.
      Title: New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.
    3. Functional analysis of the mouse counterpart.
      Title: Regulation of microtubule dynamics and myogenic differentiation by MURF, a striated muscle RING-finger protein.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in microtubule-based process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of microtubule depolymerization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Z disc IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in microtubule NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of microtubule associated complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    tripartite motif-containing protein 54
    Names
    muscle-specific RING finger protein 3
    ring finger protein 30

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_032546.4 → NP_115935.3  tripartite motif-containing protein 54 isoform 1

      See identical proteins and their annotated locations for NP_115935.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AJ291714, BC141807, DA897004
      Consensus CDS
      CCDS1745.2
      UniProtKB/Swiss-Prot
      Q9BYV2
      Related
      ENSP00000296098.4, ENST00000296098.4
      Conserved Domains (2) summary
      cd16761
      Location:24 → 82
      RING-HC_MuRF3; RING finger, HC subclass, found in muscle-specific RING finger protein 3 (MuRF-3) and similar proteins
      cd19833
      Location:124 → 166
      Bbox2_MuRF3_C-II; B-box-type 2 zinc finger found in muscle-specific RING finger protein 3 (MuRF-3) and similar proteins

    2. NM_187841.3 → NP_912730.2  tripartite motif-containing protein 54 isoform 2

      See identical proteins and their annotated locations for NP_912730.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment within the coding region. The resulting shorter isoform (2) lacks an internal region, as compared to isoform 1.
      Source sequence(s)
      BC141807, DA897004
      Consensus CDS
      CCDS1746.2
      UniProtKB/Swiss-Prot
      A5D8T7, Q53SY4, Q9BYV2, Q9BYV3
      Related
      ENSP00000369415.3, ENST00000380075.7
      Conserved Domains (2) summary
      pfam00643
      Location:122 → 163
      zf-B_box; B-box zinc finger
      cd16761
      Location:24 → 82
      RING-HC_MuRF3; RING finger, HC subclass, found in muscle-specific RING finger protein 3 (MuRF-3) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      27282429..27307435
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453010.1 → XP_024308778.1  tripartite motif-containing protein 54 isoform X1

      UniProtKB/Swiss-Prot
      A5D8T7, Q53SY4, Q9BYV2, Q9BYV3
      Conserved Domains (2) summary
      pfam00643
      Location:122 → 163
      zf-B_box; B-box zinc finger
      cd16761
      Location:24 → 82
      RING-HC_MuRF3; RING finger, HC subclass, found in muscle-specific RING finger protein 3 (MuRF-3) and similar proteins

    2. XM_024453011.2 → XP_024308779.1  tripartite motif-containing protein 54 isoform X2

      Conserved Domains (2) summary
      pfam00643
      Location:122 → 163
      zf-B_box; B-box zinc finger
      cd16761
      Location:24 → 82
      RING-HC_MuRF3; RING finger, HC subclass, found in muscle-specific RING finger protein 3 (MuRF-3) and similar proteins

    3. XM_024453012.2 → XP_024308780.1  tripartite motif-containing protein 54 isoform X3

      Conserved Domains (2) summary
      pfam00643
      Location:122 → 163
      zf-B_box; B-box zinc finger
      cd16761
      Location:24 → 82
      RING-HC_MuRF3; RING finger, HC subclass, found in muscle-specific RING finger protein 3 (MuRF-3) and similar proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      27322074..27349850
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343071.1 → XP_054199046.1  tripartite motif-containing protein 54 isoform X1

      UniProtKB/Swiss-Prot
      A5D8T7, Q53SY4, Q9BYV2, Q9BYV3

    2. XM_054343070.1 → XP_054199045.1  tripartite motif-containing protein 54 isoform X1

      UniProtKB/Swiss-Prot
      A5D8T7, Q53SY4, Q9BYV2, Q9BYV3

    3. XM_054343072.1 → XP_054199047.1  tripartite motif-containing protein 54 isoform X2

    4. XM_054343073.1 → XP_054199048.1  tripartite motif-containing protein 54 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BYV2.3 GenPept UniProtKB/Swiss-Prot:Q9BYV2

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