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 apopt... See more...

Aliases for RNF130 Gene

Aliases for RNF130 Gene

  • Ring Finger Protein 130 2 3 5
  • RING-Type E3 Ubiquitin Transferase RNF130 3 4
  • E3 Ubiquitin-Protein Ligase RNF130 3 4
  • Goliath Homolog 3 4
  • G1-Related Zinc Finger Protein 3
  • RING Finger Protein 130 4
  • EC 2.3.2.27 4
  • H-Goliath 4
  • EC 2.1.1 52
  • EC 6.3.2 52
  • 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. Diseases associated with RNF130 include Pilocytic Astrocytoma Of Cerebellum and Pediatric Supratentorial Ependymoma. 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 Summary 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 , Rfam classification 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
Score
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 CraniofacialAtlas dbSUPER 530.5 +2.0 2029 5.4 ZNF217 EP300 ZSCAN5C NRF1 MYC TCF12 USF1 POLR2G PHF8 ZFX RNF130 ENSG00000245317 HNRNPH1 MAML1 ZFP62 MRNIP RN7SKP150 RUFY1 CNOT6 TBC1D9B
GH05J180006 Enhancer 1.1 Ensembl ENCODE dbSUPER 47.4 +64.5 64529 4 RUNX1 NCOR1 KDM5B POLR2A TBP FOSL1 TAL1 ZNF395 NR2F1 STAT5A RNF130 TBC1D9B MRNIP MIR340 lnc-TBC1D9B-5
GH05J180021 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 35.7 +45.6 45629 7.4 JUND ZNF10 ATF2 MXI1 POLR2A CREB1 ZBTB17 FOS NFE2 STAT3 RNF130 TBC1D9B MRNIP MAML1 RUFY1 SQSTM1 HNRNPH1 MIR340 HE856061
GH05J180081 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 23.6 -11.9 -11927 4.3 ZNF217 USF1 TEAD4 AFF1 TARDBP REST HES1 CTBP1 POLR2A HCFC1 RF00017-5176 RNF130 MIR340 LTC4S MAML1 ENSG00000253480 LOC646058
GH05J180047 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 32.9 +23.5 23486 1.8 TRIM28 CTBP1 MXI1 FOXA2 NCOR1 TAL1 FOXM1 SCRT1 TCF12 RCOR1 RNF130 MIR340 MRNIP TBC1D9B MAML1 LTC4S HE856061
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RNF130 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RNF130

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

Genomic Locations for RNF130 Gene

Genomic Locations for RNF130 Gene
chr5:179,911,651-180,072,130
(GRCh38/hg38)
Size:
160,480 bases
Orientation:
Minus strand
chr5:179,338,651-179,499,118
(GRCh37/hg19)
Size:
160,468 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; Evidence={ECO:0000305}; Sequence=BAD93037.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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).
  • Glycosylation at Asn29, Asn40, Asn112, Asn135, Asn172, and Asn189
  • Ubiquitination at Lys310
  • 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

Blocks:
  • Zn-finger, RING
  • Protease-associated PA
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RNF130 Gene

GenScript: Design optimal peptide antigens:
  • RING finger protein 130 (GOLI_HUMAN)
  • RNF130 protein (Q1WWL6_HUMAN)
  • cDNA, FLJ93572, Homo sapiens goliath protein (GP), mRNA (Q2HIY3_HUMAN)
genes like me logo Genes that share domains with RNF130: view

No data available for Graphical View of Domain Structure and 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:
Reaction=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.; EC=2.3.2.27; Evidence=. ;.

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 --
GO:0061630 ubiquitin protein ligase activity IBA 21873635
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

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
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 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:0006511 ubiquitin-dependent protein catabolic process IBA 21873635
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

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR 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

Expression for RNF130 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RNF130 31 30
  • 94.86 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RNF130 31 30
  • 94.59 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC652955 30
  • 93.32 (n)
mouse
(Mus musculus)
Mammalia Rnf130 17 31 30
  • 93.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RNF130 31
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RNF130 31
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNF130 31 30
  • 80.5 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RNF130 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf130 30
  • 71.61 (n)
Str.15810 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.33763 30
zebrafish
(Danio rerio)
Actinopterygii zgc:113271 30
  • 66.2 (n)
RNF130 (1 of 2) 31
  • 65 (a)
OneToMany
RNF130 (2 of 2) 31
  • 41 (a)
OneToMany
wufc14g02 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8367 30
worm
(Caenorhabditis elegans)
Secernentea H10E21.5 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RNF130: view image

Paralogs for RNF130 Gene

Paralogs for RNF130 Gene

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

  • GOLI_HUMAN
  • E5RI87_HUMAN
  • J3KN31_HUMAN
  • Q1WWL6_HUMAN
  • Q2HIY3_HUMAN
genes like me logo Genes that share paralogs with RNF130: view

Variants for RNF130 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RNF130 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
776104 Benign: not provided 179,966,867(-) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for RNF130 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(5) MalaCards diseases for RNF130 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pilocytic astrocytoma of cerebellum
  • cerebellar pilocytic astrocytoma
pediatric supratentorial ependymoma
  • childhood supratentorial ependymoma
cerebellar astrocytoma
  • astrocytoma of cerebellum
cerebellum cancer
  • cerebellar cancer
pilomyxoid astrocytoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RNF130

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

No data available for 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 41 54
  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 54
  3. 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 54
  4. 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 54
  5. Cloning of murine G1RP, a novel gene related to Drosophila melanogaster g1. (PMID: 10806348) Baker SJ … Reddy EP (Gene 2000) 2 3 54

Products for RNF130 Gene

Sources for RNF130 Gene