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

    Gene ID: 55819, updated on 14-May-2013
    Official Symbol
    RNF130provided by HGNC
    Official Full Name
    ring finger protein 130provided by HGNC
    Primary source
    HGNC:18280
    See related
    Ensembl:ENSG00000113269; HPRD:11504; Vega:OTTHUMG00000130909
    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; 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. [provided by RefSeq, Jul 2008]
    Location :
    5q35.3
    Sequence :
    Chromosome: 5; NC_000005.9 (179382474..179499109, complement)
    See RNF130 in Epigenomics, MapViewer

    Chromosome 5 - NC_000005.9Genomic Context describing neighboring genes Neighboring gene TBC1 domain family, member 9B (with GRAM domain) Neighboring gene uncharacterized LOC101060066 Neighboring gene ribosomal protein S15a pseudogene 18 Neighboring gene microRNA 340 Neighboring gene chromosome 4 open reading frame 27 pseudogene Neighboring gene RasGEF domain family, member 1C

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. Udeshi ND, et al. Mol Cell Proteomics, 2012 May. PMID 22505724.
    2. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. Lettre G, et al. PLoS Genet, 2011 Feb 10. PMID 21347282.
    3. Proteomic profiling of Myc-associated proteins. Agrawal P, et al. Cell Cycle, 2010 Dec 15. PMID 21150319.
    4. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    5. A comprehensive framework of E2-RING E3 interactions of the human ubiquitin-proteasome system. van Wijk SJ, et al. Mol Syst Biol, 2009. PMID 19690564.

    See all (13) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. 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.
    2. 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.
    3. 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

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    Q86XS8 P59998 ARPC4    HPRD  PubMed  
    Q86XS8 P22607 FGFR3    HPRD  PubMed  
    Q86XS8 Q99250 SCN2A    HPRD  PubMed  
    Q86XS8 P36897 TGFBR1    HPRD  PubMed  
    BioGRID:120928 BioGRID:108552 FGFR3    BioGRID  PubMed Two-hybrid 
    BioGRID:120928 BioGRID:110694 MYC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120928 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120928 BioGRID:113169 UBE2D1    BioGRID  PubMed Two-hybrid 
    BioGRID:120928 BioGRID:113170 UBE2D2    BioGRID  PubMed Two-hybrid 
    BioGRID:120928 BioGRID:113171 UBE2D3    BioGRID  PubMed Two-hybrid 
    BioGRID:120928 BioGRID:119641 UBE2D4    BioGRID  PubMed Two-hybrid 
    BioGRID:120928 BioGRID:113172 UBE2E1    BioGRID  PubMed Two-hybrid 
    BioGRID:120928 BioGRID:115740 UBE2E3    BioGRID  PubMed Two-hybrid 
    BioGRID:120928 BioGRID:113182 UBE2N    BioGRID  PubMed Two-hybrid 
    BioGRID:120928 BioGRID:122419 UBE2Z    BioGRID  PubMed Two-hybrid 

    Markers

    Genotypes

    Homology

    Clone Names

    • MGC99542, MGC117241, MGC138647

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ubiquitin-protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    programmed cell death ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleus IDA
    Inferred from Direct Assay
    more info
    		  
    Preferred Names
    E3 ubiquitin-protein ligase RNF130
    Names
    E3 ubiquitin-protein ligase RNF130
    H-Goliath
    goliath homolog
    g1-related zinc finger protein

    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_018434.4 → NP_060904.2  E3 ubiquitin-protein ligase RNF130 precursor

      Status: REVIEWED

      Source sequence(s)
      AL515761, AY083998, BQ447530, BX404014
      Consensus CDS
      CCDS4451.1
      UniProtKB/Swiss-Prot
      Q86XS8
      Related
      ENSP00000430237, OTTHUMP00000161515, ENST00000521389, OTTHUMT00000253499
      Conserved Domains (2) summary
      cd00162
      Location:264 – 308
      Blast Score: 133
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cd02122
      Location:40 – 179
      Blast Score: 476
      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 ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000005.9 Reference GRCh37.p10 Primary Assembly

      Range
      179382474..179499109, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000137.1 Alternate HuRef

      Range
      174107231..174223323, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018916.1 Alternate CHM1_1.0

      Range
      179602825..179719436, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01010049.1 (47946..62335) None
    genomic ABBA01010050.1 None
    genomic ABBA01010051.1 None
    genomic ABBA01010052.1 None
    genomic ABBA01010053.1 None
    genomic AC010285.4 (72200..124289) None
    genomic AC026413.5 (97960..106536) None
    genomic AC122713.2 (92647..148615) None
    genomic AMYH01015961.1 (47416..163596) None
    genomic AMYH01015962.1 None
    genomic CH471165.2 EAW53772.1
      EAW53773.1
      EAW53774.1
      EAW53775.1
    mRNA AB209800.1 BAD93037.1
    mRNA AF155650.1 AAF67007.1
    mRNA AK313089.1 BAG35914.1
    mRNA AL515761.3 None
    mRNA AY083998.1 AAM08686.1
    mRNA BC017100.1 AAH17100.2
    mRNA BC065244.1 AAH65244.1
    mRNA BC082267.1 AAH82267.1
    mRNA BC108306.1 AAI08307.1
    mRNA BC113864.1 AAI13865.1
    mRNA BC114472.1 AAI14473.1
    mRNA BQ447530.1 None
    mRNA BX404014.2 None
    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.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
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      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • GAP
        GAP Links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
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      • HomoloGene
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      • Map Viewer
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        Link to related Nucleotide entry
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        Link to related protein entry
      • PubChem Compound
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      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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