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    RNF130 ring finger protein 130 [ Homo sapiens (human) ]

    Gene ID: 55819, updated on 5-Mar-2024

    Summary

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    Official Symbol
    RNF130provided by HGNC
    Official Full Name
    ring finger protein 130provided by HGNC
    Primary source
    HGNC:HGNC:18280
    See related
    Ensembl:ENSG00000113269 MIM:619163; AllianceGenome:HGNC:18280
    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
    GP; G1RP; G1RZFP; GOLIATH
    Summary
    The protein encoded by this gene contains a RING finger motif and is similar to g1, a Drosophila zinc-finger protein that is expressed in mesoderm and involved in embryonic development. The expression of the mouse counterpart was found to be upregulated in myeloblastic cells following IL3 deprivation, suggesting that this gene may regulate growth factor withdrawal-induced apoptosis of myeloid precursor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in fat (RPKM 11.3), brain (RPKM 9.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RNF130 in Genome Data Viewer
    Location:
    5q35.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (179911651..180071759, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (180466633..180626844, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (179382067..179498759, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23766 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:179294147-179294673 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:179302124-179303323 Neighboring gene MRNIP divergent transcript Neighboring gene TBC1 domain family member 9B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:179320466-179320966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:179320967-179321467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:179329571-179330070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:179333851-179334628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:179344075-179344992 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:179352751-179353251 Neighboring gene dnaJ homolog subfamily B member 6-like Neighboring gene ribosomal protein S15a pseudogene 18 Neighboring gene uncharacterized LOC124901150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23767 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:179414523-179415057 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:179428704-179428911 Neighboring gene NANOG hESC enhancer GRCh37_chr5:179434550-179435051 Neighboring gene Sharpr-MPRA regulatory region 9602 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:179461041-179462240 Neighboring gene microRNA 340 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:179488124-179488890 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:179498433-179499140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16758 Neighboring gene GATA motif-containing MPRA enhancer 81 Neighboring gene histone PARylation factor 1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:179543501-179544266 Neighboring gene RasGEF domain family member 1C Neighboring gene Sharpr-MPRA regulatory region 5800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:179564049-179564548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:179634210-179635002 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16761

    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. Differential expression profiling of genes in a complete hydatidiform mole using cDNA microarray analysis. Kim SJ, et al. Gynecol Oncol, 2006 Nov. PMID 16797685
    2. Goliath, a ring-H2 mitochondrial protein, regulated by luteinizing hormone/human chorionic gonadotropin in rat leydig cells. Guais A, et al. Biol Reprod, 2004 Jan. PMID 13679316
    3. Epigenetic silencing of miR-340-5p in multiple myeloma: mechanisms and prognostic impact. Li Z, et al. Clin Epigenetics, 2019 May 7. PMID 31064412, Free PMC Article
    4. Cloning of murine G1RP, a novel gene related to Drosophila melanogaster g1. Baker SJ, et al. Gene, 2000 May 2. PMID 10806348
    5. h-Goliath, paralog of GRAIL, is a new E3 ligase protein, expressed in human leukocytes. Guais A, et al. Gene, 2006 Jun 7. PMID 16549277

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RNF130 protects against pulmonary fibrosis through suppressing aerobic glycolysis by mediating c-myc ubiquitination.
      Title: RNF130 protects against pulmonary fibrosis through suppressing aerobic glycolysis by mediating c-myc ubiquitination.
    2. In myeloma cell lines but not normal plasma cells, DNA methylation correlated inversely with the expression of both miR-340 and RNF130. RNF130/miR-340 methylation at diagnosis was associated with inferior overall survival.
      Title: Epigenetic silencing of miR-340-5p in multiple myeloma: mechanisms and prognostic impact.
    3. GOLIATH, a paralog of GRAIL, is a new E3 ligase protein, expressed in leukocytes.
      Title: h-Goliath, paralog of GRAIL, is a new E3 ligase protein, expressed in human leukocytes.
    4. Cloning and functional analysis of the rat counterpart.
      Title: Goliath, a ring-H2 mitochondrial protein, regulated by luteinizing hormone/human chorionic gonadotropin in rat leydig cells.
    5. Cloning and functional analysis of the mouse counterpart.
      Title: Cloning of murine G1RP, a novel gene related to Drosophila melanogaster g1.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    EBI GWAS Catalog

    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

    Clone Names

    • MGC99542, MGC117241, MGC138647

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in programmed cell death ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase RNF130
    Names
    RING-type E3 ubiquitin transferase RNF130
    g1-related zinc finger protein
    goliath homolog
    NP_001267730.1
    NP_001397758.1
    NP_060904.2

    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_001280801.2 → NP_001267730.1  E3 ubiquitin-protein ligase RNF130 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001267730.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA339219, AB209800, BP390145, DB572650
      Consensus CDS
      CCDS64340.1
      UniProtKB/TrEMBL
      Q1WWL6
      Related
      ENSP00000261947.4, ENST00000261947.4
      Conserved Domains (3) summary
      COG5243
      Location:197 → 306
      HRD1; HRD ubiquitin ligase complex, ER membrane component [Posttranslational modification, protein turnover, chaperones]
      cd02122
      Location:40 → 179
      PA_GRAIL_like; PA _GRAIL_like: Protease-associated (PA) domain GRAIL-like. This group includes PA domain containing E3 (ubiquitin ligases) similar to human GRAIL (gene related to anergy in lymphocytes) protein. Proteins in this group contain a C3H2C3 RING finger. E3 ...
      cd16803
      Location:262 → 310
      RING-H2_RNF130; RING finger, H2 subclass, found in RING finger protein 130 (RNF130) and similar proteins

    2. NM_001410829.1 → NP_001397758.1  E3 ubiquitin-protein ligase RNF130 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010285, AC026413, AC122713
      Consensus CDS
      CCDS93841.1
      UniProtKB/TrEMBL
      E5RI87
      Related
      ENSP00000429509.1, ENST00000522208.6

    3. NM_018434.6 → NP_060904.2  E3 ubiquitin-protein ligase RNF130 isoform 1 precursor

      See identical proteins and their annotated locations for NP_060904.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA339219, AB209800, AK313089, BC017100, BP390145, DB572650
      Consensus CDS
      CCDS4451.1
      UniProtKB/Swiss-Prot
      J3KN31, Q32P32, Q59EL1, Q641P9, Q6P177, Q7L2U2, Q86XS8, Q9P0J9
      UniProtKB/TrEMBL
      Q1WWL6
      Related
      ENSP00000430237.1, ENST00000521389.6
      Conserved Domains (3) summary
      COG5243
      Location:197 → 306
      HRD1; HRD ubiquitin ligase complex, ER membrane component [Posttranslational modification, protein turnover, chaperones]
      cd02122
      Location:40 → 179
      PA_GRAIL_like; PA _GRAIL_like: Protease-associated (PA) domain GRAIL-like. This group includes PA domain containing E3 (ubiquitin ligases) similar to human GRAIL (gene related to anergy in lymphocytes) protein. Proteins in this group contain a C3H2C3 RING finger. E3 ...
      cd16803
      Location:262 → 310
      RING-H2_RNF130; RING finger, H2 subclass, found in RING finger protein 130 (RNF130) 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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      179911651..180071759 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      180466633..180626844 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86XS8.1 GenPept UniProtKB/Swiss-Prot:Q86XS8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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