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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RNF180 Gene

protein-coding GIFtS: 45
GCID: GC05P063498

ring finger protein 180

Search for RNF180
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Ring Finger Protein 180¹ ² ³
E3 Ubiquitin-Protein Ligase RNF180²
EC 6.3.2.-³

External Ids:	HGNC: 27752¹	Entrez Gene: 285671²	Ensembl: ENSG00000164197⁷	UniProtKB: Q86T96³

Export aliases for RNF180 gene to outside databases

Previous GC identifer: GC05P060416

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: RN180_HUMAN, Q86T96

Function: E3 ubiquitin-protein ligase which promotes polyubiquitination and degradation by the proteasome pathway of

ZIC2 (By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_006713.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RNF180 gene promoter:
Evi-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RNF180 promoter sequence

Search SABiosciences Chromatin IP Primers for RNF180

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RNF180

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q12.3 Ensembl cytogenetic band: 5q12.3 HGNC cytogenetic band: 5q12.3

RNF180 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RNF180 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P063498: view genomic region (about GC identifiers)

Start:	63,461,671 bp from pter	End:	63,668,696 bp from pter
Size:	207,026 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RN180_HUMAN, Q86T96 (See protein sequence)

Recommended Name: E3 ubiquitin-protein ligase RNF180

Size: 592 amino acids; 68254 Da

Subunit: Interacts with ZIC2 (By similarity)

Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein. Nucleus envelope (By similarity)

Sequence caution: Sequence=CAD89939.1; Type=Erroneous initiation;

Secondary accessions: Q0JSU3 Q495A8 Q8NBD1

Alternative splicing: 3 isoforms: Q86T96-1 Q86T96-2 Q86T96-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RNF180: NX_Q86T96

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q86T96

RNF180 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001107033.1 NP_848627.1

ENSEMBL proteins:

ENSP00000296615 ENSP00000373752 ENSP00000426884 ENSP00000370471

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Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005635	nuclear envelope	IEA	--
GO:0016021	integral to membrane	IEA	--
GO:0031227	intrinsic to endoplasmic reticulum membrane	IEA	--

RNF180 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

RNF180 for domains About GeneDecksing

3 InterPro domains/families:

IPR017907 Znf_RING_CS

IPR001841 Znf_RING

IPR013083 Znf_RING/FYVE/PHD

Graphical View of Domain Structure for InterPro Entry Q86T96

ProtoNet protein and cluster: Q86T96

1 Blocks protein family: IPB001841 Zn-finger

UniProtKB/Swiss-Prot: RN180_HUMAN, Q86T96

Domain: The RING-type zinc finger domain mediates polyubiquitination of the interacting protein

Similarity: Contains 1 RING-type zinc finger

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: RN180_HUMAN, Q86T96

Function: E3 ubiquitin-protein ligase which promotes polyubiquitination and degradation by the proteasome pathway of

ZIC2 (By similarity)

Enzyme Number (IUBMB): EC 6.3.2.-¹

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In Situ Assay
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Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004842	ubiquitin-protein ligase activity	IEA	--
GO:0005515	protein binding	--	--
GO:0008270	zinc ion binding	IEA	--
GO:0031624	ubiquitin conjugating enzyme binding	IEA	--

RNF180 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for RNF180:

Increased gamma-H2AX phosphory

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

UniProtKB/Swiss-Prot: RN180_HUMAN, Q86T96

Pathway: Protein modification; protein ubiquitination

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for RNF180

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for RNF180 (Q86T96³ ENSP00000373752⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	P0CG48³, ENSP00000344818⁴	I2D: score=1 STRING: ENSP00000344818
ZIC2	O95409³, ENSP00000365514⁴	I2D: score=1 STRING: ENSP00000365514

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016567	protein ubiquitination	--	--
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA	--

RNF180 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RNF180
Search CenterWatch for drugs/clinical trials and news about RNF180 / RN180

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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About This Section

REFSEQ mRNAs for RNF180 gene (2 alternative transcripts):

NM_001113561.1 NM_178532.3

Unigene Cluster for RNF180:

Ring finger protein 180

Hs.657843 [show with all ESTs]

Unigene Representative Sequence: NM_001113561

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000296615(uc003jth.4) ENST00000389100(uc003jti.3) ENST00000504296

ENST00000381081(uc010iws.3)

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		8/55 QIAGEN miScript miRNA Assays for microRNAs that regulate RNF180 (see all 55):
		hsa-miR-142-5p hsa-miR-302d hsa-miR-520e hsa-miR-25 hsa-miR-301a hsa-miR-519a hsa-miR-570 hsa-miR-372

		SwitchGear 3'UTR luciferase reporter plasmid: RNF180 3' UTR sequence

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Additional cDNA sequence:

AK090756.1 AL832580.2 BC101277.2 BC101278.2 BC101279.1 BC101397.2

3 DOTS entries:

DT.308885 DT.100020671 DT.307726

24/34 AceView cDNA sequences (see all 34):

BX113020 BM728889 BI006702 BE672684 BM718923 BF433928 BE222198 BV192623

NM_178532 BE218282 AX746601 CB999963 BF115015 AL832580 AI216189 AA035198

AK090756 AI521986 AI431828 AI273646 AI167804 CB267379 BG218201 AA040069

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RNF180 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGAATAAAA

About this image

RNF180 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Lens

Eye

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See RNF180 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RNF180

SOURCE GeneReport for Unigene cluster: Hs.657843

SABiosciences Custom PCR Arrays for RNF180

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNF180

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for RNF180 gene from 4/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Rnf180^{1 , 5}	ring finger protein 180^{1, 5}	83.84(n)¹ 80.61(a)¹		13 (56.92 cM)⁵ 71816¹ NM_027934.2¹ NP_082210.1¹ 105149352⁵
chicken (Gallus gallus)	Aves	RNF180⁶	Uncharacterized protein	51(a)	1 ↔ 1	Z(19448896-19520028)
lizard (Anolis carolinensis)	Reptilia	RNF180⁶	--	48(a)	1 ↔ 1	1(226228253-226277061)
zebrafish (Danio rerio)	Actinopterygii	rnf180¹	ring finger protein 180	54.59(n) 44.97(a)		793295 NM_001110404.1 NP_001103874.1

ENSEMBL Gene Tree for RNF180 (if available)
TreeFam Gene Tree for RNF180 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs186144643^1,2		--	63459672(+)	`GTGGAA/GAAAGT`	2	--	us2k¹		0	--	--	--	--
rs78199560^1,2		--	63459718(+)	`CCTACG/ATAGGT`	2	--	us2k¹		2		CSA WA	120
rs142982854^1,2		--	63459916(+)	`AACCAC/GTTTGT`	2	--	us2k¹		0	--	--	--	--
rs150920289^1,2		--	63460197(+)	`GGTTAC/TAGAAA`	2	--	us2k¹		0	--	--	--	--
rs76438779^1,2	F,	--	63460221(+)	`AAACTG/AAGAGC`	2	--	us2k¹		1		WA	118
rs192353318^1,2		--	63460380(+)	`GAAGTA/GGCAAC`	2	--	us2k¹		0	--	--	--	--
rs182381904^1,2		--	63460510(+)	`TATTCC/GTAGTT`	2	--	us2k¹		0	--	--	--	--
rs113374176^1,2	C,	--	63460514(+)	`CCTAGC/TTGAAG`	2	--	us2k¹		1		NA	2
rs187869515^1,2		--	63460517(+)	`AGTTGA/GAGTGT`	2	--	us2k¹		0	--	--	--	--
rs144629880^1,2		--	63460571(+)	`TCATCA/TTTTGA`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for RNF180 (63461671 - 63668696 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for RNF180
2 CNVs: 99160 99159

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

RNF180 for disorders About MalaCards

RNF180 for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: RNF180 (1 document)

Export disorders for RNF180 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for RNF180 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with RNF180)

Utopia: connect your pdf to the dynamic
world of online information

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
HTR1A a novel type 1 diabetes susceptibility gene on c hromosome 5p13-q13. (PubMed id 22563461)¹ Asad S....Kockum I. (2012)
Characterization of the gene structure, functional sig nificance, and clinical application of RNF180, a novel gene in gastric cancer. (PubMed id 21717426)¹ Cheung K.F....Yu J. (2012)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Rines/RNF180, a novel RING finger gene-encoded produc t, is a membrane-bound ubiquitin ligase. (PubMed id 18363970)¹ Ogawa M....Aruga J. (2008)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
The LIFEdb database in 2006. (PubMed id 16381901)¹ Mehrle A....Wiemann S. (2006)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)¹ Wiemann S....Poustka A. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 285671	HGNC: 27752	AceView: LOC285671	Ensembl:ENSG00000164197	euGenes: HUgn285671
ECgene: RNF180	H-InvDB: RNF180

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for RNF180	Pharmacogenomics, SNPs, Pathways

Intellectual Property for RNF180 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for RNF180 gene:
Search GeneIP for patents involving RNF180

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes RNF180 gene at Home site.

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RNF180 Gene

ring finger protein 180

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RNF180 Gene

ring finger protein 180

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