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Aliases for RNF130 Gene

Aliases for RNF130 Gene

  • Ring Finger Protein 130 2 3 5
  • RING-Type E3 Ubiquitin Transferase RNF130 3 4
  • Goliath Homolog 3 4
  • E3 Ubiquitin-Protein Ligase RNF130 3
  • G1-Related Zinc Finger Protein 3
  • RING Finger Protein 130 4
  • EC 4
  • H-Goliath 4
  • G1RZFP 3
  • GP 3

External Ids for RNF130 Gene

Previous GeneCards Identifiers for RNF130 Gene

  • GC05M179446
  • GC05M179492
  • GC05M179315
  • GC05M179382
  • GC05M174107
  • GC05M179345

Summaries for RNF130 Gene

Entrez Gene Summary for RNF130 Gene

  • 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]

GeneCards Summary for RNF130 Gene

RNF130 (Ring Finger Protein 130) is a Protein Coding gene. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is RNF150.

UniProtKB/Swiss-Prot for RNF130 Gene

  • May have a role during the programmed cell death of hematopoietic cells (By similarity). Acts as an E3 ubiquitin-protein ligase.

Additional gene information for RNF130 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF130 Gene

Genomics for RNF130 Gene

GeneHancer (GH) Regulatory Elements for RNF130 Gene

Promoters and enhancers for RNF130 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J180069 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 680.6 +1.2 1151 3.6 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 POLR2B RNF130 HNRNPH1 MAML1 ZFP62 MRNIP CNOT6 LOC100996419 RUFY1 RN7SKP150 SQSTM1
GH05J180006 Enhancer 1.1 Ensembl ENCODE dbSUPER 47.4 +64.6 64616 2.4 HDAC1 HDGF MEIS2 ATF1 PKNOX1 TEAD4 TAL1 FOSL1 TCF12 CBX5 RNF130 TBC1D9B MRNIP MIR340 GC05P179984
GH05J180047 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 32.9 +23.5 23486 1.8 HDAC1 FOXA2 TEAD4 TAL1 MAX ZBTB40 E2F1 TCF12 GATA3 CTBP1 RNF130 MIR340 MRNIP TBC1D9B MAML1 LTC4S GC05M180018
GH05J180081 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 23.6 -11.9 -11927 4.3 PKNOX1 FOXA2 NEUROD1 SIN3A ETS1 TCF12 GATA2 ZFP91 ATF7 REST RNF130 HNRNPH1 CNOT6 MIR340 MAML1 ZFP62 MRNIP LTC4S LOC646058 ENSG00000278965
GH05J180026 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 27.8 +45.3 45287 1.1 PKNOX1 ATF1 JUN SCRT2 NFE2 ATF7 CREM ZNF189 RXRA ZNF10 RNF130 MRNIP TBC1D9B MAML1 RUFY1 SQSTM1 HNRNPH1 GC05M180018
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RNF130 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RNF130 gene promoter:
  • AP-1
  • c-Jun
  • ATF-2
  • c-Fos
  • CUTL1

Genomic Locations for RNF130 Gene

Genomic Locations for RNF130 Gene
160,480 bases
Minus strand
160,468 bases
Minus strand

Genomic View for RNF130 Gene

Genes around RNF130 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF130 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF130 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF130 Gene

Proteins for RNF130 Gene

  • Protein details for RNF130 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    E3 ubiquitin-protein ligase RNF130
    Protein Accession:
    Secondary Accessions:
    • J3KN31
    • Q32P32
    • Q59EL1
    • Q641P9
    • Q6P177
    • Q7L2U2
    • Q9P0J9

    Protein attributes for RNF130 Gene

    419 amino acids
    Molecular mass:
    46405 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAF67007.1; Type=Frameshift; Positions=110, 116; Evidence={ECO:0000305}; Sequence=BAD93037.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for RNF130 Gene


neXtProt entry for RNF130 Gene

Post-translational modifications for RNF130 Gene

  • In vivo measurements suggest this protein is glycosylated (PubMed:19159218). In contrast, in vitro experiments failed to detect glycosylation (PubMed:16549277).
  • Ubiquitination at Lys310
  • Glycosylation at posLast=189189, posLast=172172, Asn135, posLast=112112, Asn40, and Asn29
  • Modification sites at PhosphoSitePlus

Other Protein References for RNF130 Gene

No data available for DME Specific Peptides for RNF130 Gene

Domains & Families for RNF130 Gene

Gene Families for RNF130 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for RNF130 Gene

Suggested Antigen Peptide Sequences for RNF130 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RNF130: view

No data available for UniProtKB/Swiss-Prot for RNF130 Gene

Function for RNF130 Gene

Molecular function for RNF130 Gene

UniProtKB/Swiss-Prot Function:
May have a role during the programmed cell death of hematopoietic cells (By similarity). Acts as an E3 ubiquitin-protein ligase.
UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.

Enzyme Numbers (IUBMB) for RNF130 Gene

Phenotypes From GWAS Catalog for RNF130 Gene

Gene Ontology (GO) - Molecular Function for RNF130 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IDA 16549277
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RNF130: view
genes like me logo Genes that share phenotypes with RNF130: view

Animal Model Products

  • Taconic Biosciences Mouse Models for RNF130

miRNA for RNF130 Gene

miRTarBase miRNAs that target RNF130

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RNF130 Gene

Localization for RNF130 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF130 Gene

Membrane; Single-pass type I membrane protein. Cytoplasm.

Subcellular locations from

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 RNF130 gene
Compartment Confidence
plasma membrane 3
nucleus 2
cytosol 2
extracellular 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for RNF130 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 16549277
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RNF130: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RNF130 Gene

Pathways & Interactions for RNF130 Gene

genes like me logo Genes that share pathways with RNF130: view

UniProtKB/Swiss-Prot Q86XS8-GOLI_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RNF130 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0012501 programmed cell death ISS 13679316
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with RNF130: view

No data available for SIGNOR curated interactions for RNF130 Gene

Drugs & Compounds for RNF130 Gene

No Compound Related Data Available

Transcripts for RNF130 Gene

mRNA/cDNA for RNF130 Gene

Unigene Clusters for RNF130 Gene

Ring finger protein 130:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNF130 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: - -
SP2: - - - -
SP3: - - -

Relevant External Links for RNF130 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RNF130 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RNF130 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RNF130 Gene

This gene is overexpressed in Whole Blood (x5.4).

Protein differential expression in normal tissues from HIPED for RNF130 Gene

This gene is overexpressed in Adipocyte (64.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RNF130 Gene

Protein tissue co-expression partners for RNF130 Gene

NURSA nuclear receptor signaling pathways regulating expression of RNF130 Gene:


SOURCE GeneReport for Unigene cluster for RNF130 Gene:


mRNA Expression by UniProt/SwissProt for RNF130 Gene:

Tissue specificity: Ubiquitously expressed. Highly expressed in leukocytes. Not expressed in erythroblasts.

Evidence on tissue expression from TISSUES for RNF130 Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Lung(3.1)
  • Kidney(2)
genes like me logo Genes that share expression patterns with RNF130: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF130 Gene

Orthologs for RNF130 Gene

This gene was present in the common ancestor of animals.

Orthologs for RNF130 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia RNF130 34 33
  • 99.6 (n)
(Canis familiaris)
Mammalia RNF130 34 33
  • 94.86 (n)
(Bos Taurus)
Mammalia RNF130 34 33
  • 94.59 (n)
(Rattus norvegicus)
Mammalia LOC652955 33
  • 93.32 (n)
(Mus musculus)
Mammalia Rnf130 16 34 33
  • 93.16 (n)
(Ornithorhynchus anatinus)
Mammalia RNF130 34
  • 93 (a)
(Monodelphis domestica)
Mammalia RNF130 34
  • 89 (a)
(Gallus gallus)
Aves RNF130 34 33
  • 80.5 (n)
(Anolis carolinensis)
Reptilia RNF130 34
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf130 33
  • 71.61 (n)
Str.15810 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.33763 33
(Danio rerio)
Actinopterygii zgc:113271 33
  • 66.2 (n)
RNF130 (1 of 2) 34
  • 65 (a)
RNF130 (2 of 2) 34
  • 41 (a)
wufc14g02 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8367 33
(Caenorhabditis elegans)
Secernentea H10E21.5 34
  • 22 (a)
Species where no ortholog for RNF130 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)

Evolution for RNF130 Gene

Gene Tree for RNF130 (if available)
Gene Tree for RNF130 (if available)
Evolutionary constrained regions (ECRs) for RNF130: view image

Paralogs for RNF130 Gene

(7) SIMAP similar genes for RNF130 Gene using alignment to 5 proteins:

  • E5RI87_HUMAN
  • J3KN31_HUMAN
genes like me logo Genes that share paralogs with RNF130: view

Variants for RNF130 Gene

Sequence variations from dbSNP and Humsavar for RNF130 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000011269 -- 180,068,137(-) C/A intron_variant
rs1000026670 -- 180,013,744(-) T/G intron_variant
rs1000038066 -- 180,013,106(-) G/A coding_sequence_variant, synonymous_variant
rs1000043896 -- 179,949,015(-) G/T genic_downstream_transcript_variant, intron_variant
rs1000056769 -- 179,936,623(-) C/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RNF130 Gene

Variant ID Type Subtype PubMed ID
nsv830561 CNV loss 17160897
nsv476864 CNV novel sequence insertion 20440878
nsv1146523 CNV insertion 26484159
nsv1111310 CNV tandem duplication 24896259
nsv1109753 CNV deletion 24896259
nsv1033706 CNV gain 25217958
nsv1024592 CNV loss 25217958
esv3607763 CNV loss 21293372
esv3607760 CNV loss 21293372
esv3607759 CNV loss 21293372
esv3570599 CNV loss 25503493
esv3421713 CNV insertion 20981092
esv3412320 CNV duplication 20981092
esv2731315 CNV deletion 23290073
esv2731314 CNV deletion 23290073
esv2731313 CNV deletion 23290073
esv2674593 CNV deletion 23128226

Variation tolerance for RNF130 Gene

Residual Variation Intolerance Score: 37.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.40; 27.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RNF130 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF130 Gene

Disorders for RNF130 Gene

Additional Disease Information for RNF130

No disorders were found for RNF130 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RNF130 Gene

Publications for RNF130 Gene

  1. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PMID: 21347282) Lettre G … Boerwinkle E (PLoS genetics 2011) 3 44 58
  2. h-Goliath, paralog of GRAIL, is a new E3 ligase protein, expressed in human leukocytes. (PMID: 16549277) Guais A … Bulle F (Gene 2006) 3 4 58
  3. Goliath, a ring-H2 mitochondrial protein, regulated by luteinizing hormone/human chorionic gonadotropin in rat leydig cells. (PMID: 13679316) Guais A … Bulle F (Biology of reproduction 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Cloning of murine G1RP, a novel gene related to Drosophila melanogaster g1. (PMID: 10806348) Baker SJ … Reddy EP (Gene 2000) 2 3 58

Products for RNF130 Gene

Sources for RNF130 Gene

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