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Aliases for RNF130 Gene

Aliases for RNF130 Gene

  • Ring Finger Protein 130 2 3
  • RING-Type E3 Ubiquitin Transferase RNF130 3 4
  • RING Finger Protein 130 4 5
  • Goliath Homolog 3 4
  • E3 Ubiquitin-Protein Ligase RNF130 3
  • G1-Related Zinc Finger Protein 3
  • EC 2.3.2.27 4
  • H-Goliath 4
  • EC 2.1.1 61
  • EC 6.3.2 61
  • GOLIATH 3
  • 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 Innate Immune System and Class I MHC mediated antigen processing and presentation. 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.

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

Regulatory Elements for RNF130 Gene

Enhancers for RNF130 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G180006 1.3 Ensembl ENCODE dbSUPER 47.4 +64.6 64616 2.4 HDAC1 HDGF PKNOX1 ATF1 TAL1 UBTF FOSL1 TCF12 CBX5 POLR2A RNF130 TBC1D9B MRNIP MIR340 GC05P179984
GH05G180047 1.6 FANTOM5 Ensembl ENCODE dbSUPER 32.9 +23.5 23486 1.8 HDAC1 TAL1 MAX ZIC2 ZBTB40 TCF12 FOXM1 E2F1 GATA3 NCOR1 RNF130 MIR340 MRNIP TBC1D9B MAML1 LTC4S GC05M180018
GH05G180069 1.7 FANTOM5 ENCODE dbSUPER 30.6 +1.2 1151 3.6 MLX CREB3L1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZFP62 RNF130 MAML1 CNOT6 LOC100996419 LOC105377763 SQSTM1 HNRNPH1 GC05M180018
GH05G180026 1.5 FANTOM5 Ensembl ENCODE dbSUPER 27.8 +45.3 45288 1.1 KLF1 PKNOX1 ESRRA ATF1 JUN SCRT2 NFE2 FOS CREM EGR2 RNF130 MRNIP TBC1D9B MAML1 RUFY1 SQSTM1 HNRNPH1 GC05M180018
GH05G180081 1.7 FANTOM5 Ensembl ENCODE dbSUPER 23.6 -11.9 -11928 4.3 PKNOX1 FOXA2 SIN3A TCF12 GATA2 ZHX2 REST MAFF SMARCA4 MYNN RNF130 MIR340 LTC4S MAML1 ENSG00000278965 LOC646058
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RNF130 on UCSC Golden Path with GeneCards custom track

Promoters for RNF130 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000191625 930 2401 MLX CREB3L1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for RNF130 Gene

Chromosome:
5
Start:
179,911,651 bp from pter
End:
180,072,130 bp from pter
Size:
160,480 bases
Orientation:
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:
    Q86XS8-GOLI_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RNF130
    Protein Accession:
    Q86XS8
    Secondary Accessions:
    • J3KN31
    • Q32P32
    • Q59EL1
    • Q641P9
    • Q6P177
    • Q7L2U2
    • Q9P0J9

    Protein attributes for RNF130 Gene

    Size:
    419 amino acids
    Molecular mass:
    46405 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for RNF130 Gene

Selected DME Specific Peptides for RNF130 Gene

Q86XS8:
  • AVGTRMP
  • RILPCKH

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 isoforms=2310
  • Glycosylation at Asn29, isoforms=240, Asn112, isoforms=2135, isoforms=2172, and isoforms=2189
  • Modification sites at PhosphoSitePlus

Other Protein References for RNF130 Gene

Domains & Families for RNF130 Gene

Gene Families for RNF130 Gene

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 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.
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.

Enzyme Numbers (IUBMB) 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:0008270 zinc ion binding IEA --
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

CRISPR Products

miRNA for RNF130 Gene

miRTarBase miRNAs that target RNF130

Inhibitory RNA Products

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

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 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

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

Unigene Clusters for RNF130 Gene

Ring finger protein 130:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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: - - -
SP4:
SP5:

Relevant External Links for RNF130 Gene

GeneLoc Exon Structure for
RNF130
ECgene alternative splicing isoforms for
RNF130

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, PaxDb, MaxQB, and MOPED for RNF130 Gene



Protein tissue co-expression partners for RNF130 Gene

NURSA nuclear receptor signaling pathways regulating expression of RNF130 Gene:

RNF130

SOURCE GeneReport for Unigene cluster for RNF130 Gene:

Hs.484363

mRNA Expression by UniProt/SwissProt for RNF130 Gene:

Q86XS8-GOLI_HUMAN
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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia RNF130 34 35
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia RNF130 34 35
  • 94.86 (n)
cow
(Bos Taurus)
Mammalia RNF130 34 35
  • 94.59 (n)
rat
(Rattus norvegicus)
Mammalia LOC652955 34
  • 93.32 (n)
mouse
(Mus musculus)
Mammalia Rnf130 34 16 35
  • 93.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RNF130 35
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RNF130 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNF130 34 35
  • 80.5 (n)
lizard
(Anolis carolinensis)
Reptilia RNF130 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf130 34
  • 71.61 (n)
Str.15810 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.33763 34
zebrafish
(Danio rerio)
Actinopterygii zgc:113271 34
  • 66.2 (n)
RNF130 (1 of 2) 35
  • 65 (a)
OneToMany
RNF130 (2 of 2) 35
  • 41 (a)
OneToMany
wufc14g02 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8367 34
worm
(Caenorhabditis elegans)
Secernentea H10E21.5 35
  • 22 (a)
OneToMany
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

ENSEMBL:
Gene Tree for RNF130 (if available)
TreeFam:
Gene Tree for RNF130 (if available)

Paralogs for RNF130 Gene

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

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 Sequence Context AA Info Type
rs1000011269 -- 180,068,137(+) ATAAT(A/C)ACATC intron-variant
rs1000026670 -- 180,013,744(+) TGGAG(G/T)AAAGT intron-variant
rs1000038066 -- 180,013,106(+) ATGAA(A/G)TAGAA reference, synonymous-codon
rs1000043896 -- 179,949,015(+) GGCTG(G/T)AATGC intron-variant
rs1000056769 -- 179,936,623(+) AGATA(C/T)CAACC intron-variant

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

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

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)

Relevant External Links for RNF130 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF130

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

Disorders for RNF130 Gene

Relevant External Links for RNF130

Genetic Association Database (GAD)
RNF130
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 Genet. 2011) 3 46 64
  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 64
  3. Goliath, a ring-H2 mitochondrial protein, regulated by luteinizing hormone/human chorionic gonadotropin in rat Leydig cells. (PMID: 13679316) Guais A. … Bulle F. (Biol. Reprod. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Cloning of murine G1RP, a novel gene related to Drosophila melanogaster g1. (PMID: 10806348) Baker S.J. … Reddy E.P. (Gene 2000) 2 3 64

Products for RNF130 Gene

Sources for RNF130 Gene

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