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
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
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.
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.
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.
ModBase Predicted Comparative 3D Structure on Q86XS8
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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.
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
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