Human Gene RNF130 (uc003mll.1)
  Description: Homo sapiens ring finger protein 130 (RNF130), mRNA.
RefSeq Summary (NM_018434): 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].
Transcript (Including UTRs)
   Position: hg19 chr5:179,382,474-179,499,109 Size: 116,636 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr5:179,382,654-179,498,702 Size: 116,049 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:179,382,474-179,499,109)mRNA (may differ from genome)Protein (419 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSCGAPEnsemblEntrez GeneExonPrimer
GeneCardsGeneNetworkH-INVHGNCHPRDLynx
MGIneXtProtPubMedReactomeUniProtKB

-  Comments and Description Text from UniProtKB
  ID: GOLI_HUMAN
DESCRIPTION: RecName: Full=E3 ubiquitin-protein ligase RNF130; EC=6.3.2.-; AltName: Full=Goliath homolog; Short=H-Goliath; AltName: Full=RING finger protein 130; Flags: Precursor;
FUNCTION: May have a role during the programmed cell death of hematopoietic cells (By similarity). Acts as an E3 ubiquitin- protein ligase.
PATHWAY: Protein modification; protein ubiquitination.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential). Cytoplasm.
TISSUE SPECIFICITY: Ubiquitously expressed. Highly expressed in leukocytes. Not expressed in erythroblasts.
PTM: In vivo measurements suggest this protein is glycosylated (PubMed:19159218). In contrast, in vitro experiments failed to detect glycosylation (PubMed:16549277).
SIMILARITY: Contains 1 PA (protease associated) domain.
SIMILARITY: Contains 1 RING-type zinc finger.
SEQUENCE CAUTION: Sequence=AAF67007.1; Type=Frameshift; Positions=110, 116;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RNF130
CDC HuGE Published Literature: RNF130
Positive Disease Associations: Coronary Disease , Receptors, Tumor Necrosis Factor, Type II
Related Studies:
  1. Coronary Disease
    Guillaume Lettre et al. PLoS genetics 2011, Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project., PLoS genetics. [PubMed 21347282]
    suggest that no major loci uniquely explain the high prevalence of CHD in African Americans.
  2. Receptors, Tumor Necrosis Factor, Type II
    Emelia J Benjamin et al. BMC medical genetics 2007, Genome-wide association with select biomarker traits in the Framingham Heart Study., BMC medical genetics. [PubMed 17903293]
    The Framingham GWAS represents a resource to describe potentially novel genetic influences on systemic biomarker variability. The newly described associations will need to be replicated in other studies.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.55 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 425.29 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -231.20407-0.568 Picture PostScript Text
3' UTR -22.80180-0.127 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003137 - Protease-assoc_domain
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF00097 - Zinc finger, C3HC4 type (RING finger)
PF02225 - PA domain
PF13445 - RING-type zinc-finger
PF13639 - Ring finger domain
PF13923 - Zinc finger, C3HC4 type (RING finger)
PF17123 - RING-like zinc finger

SCOP Domains:
52025 - Transferrin receptor ectodomain, apical domain
57850 - RING/U-box

ModBase Predicted Comparative 3D Structure on Q86XS8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity
GO:0016740 transferase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006915 apoptotic process
GO:0012501 programmed cell death
GO:0016567 protein ubiquitination

Cellular Component:
GO:0005737 cytoplasm
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC065244 - Homo sapiens ring finger protein 130, mRNA (cDNA clone IMAGE:6065399), partial cds.
AF155650 - Human mRNA for goliath protein.
BC017100 - Homo sapiens ring finger protein 130, mRNA (cDNA clone IMAGE:3535930), partial cds.
AY083998 - Homo sapiens goliath protein mRNA, complete cds.
AB209800 - Homo sapiens mRNA for ring finger protein 130 variant protein.
BC108306 - Homo sapiens ring finger protein 130, mRNA (cDNA clone MGC:117241 IMAGE:6137501), complete cds.
BC082267 - Homo sapiens ring finger protein 130, mRNA (cDNA clone IMAGE:6731754), complete cds.
BC113864 - Homo sapiens ring finger protein 130, mRNA (cDNA clone MGC:138647 IMAGE:40033418), complete cds.
BC114472 - Homo sapiens ring finger protein 130, mRNA (cDNA clone IMAGE:40033417), partial cds.
AK313089 - Homo sapiens cDNA, FLJ93572, Homo sapiens goliath protein (GP), mRNA.
KJ902885 - Synthetic construct Homo sapiens clone ccsbBroadEn_12279 RNF130 gene, encodes complete protein.
KJ899199 - Synthetic construct Homo sapiens clone ccsbBroadEn_08593 RNF130 gene, encodes complete protein.
JD361341 - Sequence 342365 from Patent EP1572962.
DL492694 - Novel nucleic acids.
JD019382 - Sequence 406 from Patent EP1572962.
JD035982 - Sequence 17006 from Patent EP1572962.
JD455641 - Sequence 436665 from Patent EP1572962.
JD035317 - Sequence 16341 from Patent EP1572962.
JD024225 - Sequence 5249 from Patent EP1572962.
JD036305 - Sequence 17329 from Patent EP1572962.
JD022111 - Sequence 3135 from Patent EP1572962.
JD022112 - Sequence 3136 from Patent EP1572962.
JD144157 - Sequence 125181 from Patent EP1572962.
JD474007 - Sequence 455031 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q86XS8 (Reactome details) participates in the following event(s):

R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex
R-HSA-983147 Release of E3 from polyubiquitinated substrate
R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: GOLI_HUMAN, NM_018434, NP_060904, Q32P32, Q641P9, Q6P177, Q7L2U2, Q86XS8, Q9P0J9
UCSC ID: uc003mll.1
RefSeq Accession: NM_018434
Protein: Q86XS8 (aka GOLI_HUMAN)
CCDS: CCDS4451.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_018434.4
exon count: 9CDS single in 3' UTR: no RNA size: 1865
ORF size: 1260CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2373.00frame shift in genome: no % Coverage: 99.03
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.