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Set Analyses:

VarElect

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RNF123 Gene

protein-coding GIFtS: 55
GCID: GC03P049726

Ring Finger Protein 123

See related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Ring Finger Protein 123¹ ² ³
KPC1² ³ ⁵
Kip1 Ubiquitination-Promoting Complex Protein 1² ³
E3 Ubiquitin-Protein Ligase RNF123²
EC 6.3.2.-³

External Ids:	HGNC: 21148¹	Entrez Gene: 63891²	Ensembl: ENSG00000164068⁷	OMIM: 614472⁵	UniProtKB: Q5XPI4³

Export aliases for RNF123 gene to outside databases

Previous GC identifers: GC03P049581 GC03P049685 GC03P049701

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RNF123 Gene:

The protein encoded by this gene contains a C-terminal RING finger domain, a motif present in a variety of

functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions, and an

N-terminal SPRY domain. This protein displays E3 ubiquitin ligase activity toward the cyclin-dependent kinase

inhibitor 1B which is also known as p27 or KIP1. (provided by RefSeq, Feb 2012)

GeneCards Summary for RNF123 Gene:

RNF123 (ring finger protein 123) is a protein-coding gene. Diseases associated with RNF123 include endogenous depression, and moyamoya disease. GO annotations related to this gene include ligase activity. An important paralog of this gene is RSPRY1.

UniProtKB/Swiss-Prot: RN123_HUMAN, Q5XPI4

Function: Catalytic subunit of the KPC complex that acts as E3 ubiquitin-protein ligase. Required for

poly-ubiquitination and proteasome-mediated degradation of CDKN1B during G1 phase of the cell cycle

Gene Wiki entry for RNF123 Gene

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000003.12 NT_022517.19 NC_018914.2

Regulatory elements:

Regulatory transcription factor binding sites in the RNF123 gene promoter:
E2F-4 E2F-3a HFH-3 E2F-5 Nkx2-5 E2F-2 LCR-F1 E2F E2F-1 SEF-1 (1)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RNF123 promoter sequence

Search Chromatin IP Primers for RNF123

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RNF123

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

Entrez Gene cytogenetic band: 3p24.3 Ensembl cytogenetic band: 3p21.31 HGNC cytogenetic band: 3p24.3

RNF123 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RNF123 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P049726: view genomic region (about GC identifiers)

Start:	49,726,932 bp from pter	End:	49,758,962 bp from pter
Size:	32,031 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RN123_HUMAN, Q5XPI4 (See protein sequence)

Recommended Name: E3 ubiquitin-protein ligase RNF123

Size: 1314 amino acids; 148515 Da

Subunit: Component of the KPC complex composed of RNF123/KPC1 and UBAC1/KPC2. Interacts with UBAC1 and CDKN1B via

its N-terminal domain

Sequence caution: Sequence=BAB14139.1; Type=Erroneous initiation; Sequence=BAB15607.1; Type=Erroneous initiation;

1 PDB 3D structure from and Proteopedia for RNF123:

2MA6 (3D)

Secondary accessions: A1L4Q3 A6NLS5 Q5I022 Q6PFW4 Q71RH0 Q8IW18 Q9H0M8 Q9H5L8 Q9H9T2

Alternative splicing: 2 isoforms: Q5XPI4-1 Q5XPI4-2

Explore the universe of human proteins at neXtProt for RNF123: NX_Q5XPI4

Explore proteomics data for RNF123 at MOPED

Post-translational modifications:

Ubiquitinated, leading to its degradation. Deubiquitinated by USP19, thereby stimulating CDKN1B

ubiquitin-dependent degradation (By similarity)¹

Ubiquitination² at Lys33, Lys467, Lys530, Lys704, Lys806, Lys814, Lys906, Lys1286

Modification sites at PhosphoSitePlus

See RNF123 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_071347.2

ENSEMBL proteins:

ENSP00000328287 ENSP00000392443 ENSP00000394369 ENSP00000408490 ENSP00000390856

ENSP00000416156 ENSP00000413794

Reactome Protein details: Q5XPI4

RNF123 Human Recombinant Protein Products:

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	GenScript Custom Purified and Recombinant Proteins Services for RNF123
	Novus Biologicals RNF123 Protein
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for RNF123

RNF123 Antibody Products:

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	Novus Biologicals RNF123 Antibodies
	Abcam antibodies for RNF123
	Cloud-Clone Corp. Antibodies for RNF123
	Search ThermoFisher Antibodies for RNF123
	LSBio Antibodies in human, mouse, rat for RNF123

RNF123 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for RNF123
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	GenScript Custom Assay Services for RNF123
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for RNF123 Cloud-Clone Corp. CLIAs for RNF123

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

RNF: RING-type (C3HC4) zinc fingers

Selected InterPro protein domains (see all 6):

IPR001841 Znf_RING

IPR001870 B30.2/SPRY

IPR003877 SPRY_rcpt

IPR018355 SPla/RYanodine_receptor_subgr

IPR013083 Znf_RING/FYVE/PHD

Graphical View of Domain Structure for InterPro Entry Q5XPI4

ProtoNet protein and cluster: Q5XPI4

1 Blocks protein domain: IPB001841 Zn-finger

UniProtKB/Swiss-Prot: RN123_HUMAN, Q5XPI4

Similarity: Contains 1 B30.2/SPRY domain

Similarity: Contains 1 RING-type zinc finger

RNF123 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: RN123_HUMAN, Q5XPI4

Function: Catalytic subunit of the KPC complex that acts as E3 ubiquitin-protein ligase. Required for

poly-ubiquitination and proteasome-mediated degradation of CDKN1B during G1 phase of the cell cycle

Enzyme Number (IUBMB): EC 6.3.2.-¹

Gene Ontology (GO): 3 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--
GO:0008270	zinc ion binding	IEA	--
GO:0016874	ligase activity	IEA	--

RNF123 for ontologies About GeneDecksing

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RNF123

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RNF123

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RNF123

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RNF123

miRNA Products:		miRTarBase miRNAs that target RNF123: hsa-mir-10a-5p (MIRT047567), hsa-mir-92a-3p (MIRT049325)

		Block miRNA regulation of human, mouse, rat RNF123 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate RNF123 (see all 10):
		hsa-miR-328 hsa-miR-3136-5p hsa-miR-1260b hsa-miR-1291 hsa-miR-1260 hsa-miR-532-3p hsa-miR-155 hsa-miR-3121-3p

		SwitchGear 3'UTR luciferase reporter plasmid: RNF123 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for RNF123
		Predesigned siRNA for gene silencing in human, mouse, rat RNF123

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for RNF123

Clone Products:		OriGene clones in human, mouse for RNF123 (see all 8) OriGene ORF clones in mouse, rat for RNF123 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: RNF123 (NM_022064)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for RNF123
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RNF123

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for RNF123
		Browse ESI BIO Cell Lines and PureStem Progenitors for RNF123

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNF123

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

RN123_HUMAN, Q5XPI4: Cytoplasm

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
plasma membrane	3
cytosol	1
nucleus	1

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Gene Ontology (GO): 1 cellular component term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	--

RNF123 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for RNF123 About

See pathways by source

SuperPath

Contained pathways About

Class I MHC mediated antigen processing and presentation

	Class I MHC mediated antigen processing and presentation	0.84			Adaptive Immune System	0.41
	Antigen processing- Ubiquitination and Proteasome degradation	0.84

Pathways by source See SuperPaths
Show all pathways

1 Reactome Pathway for RNF123

Antigen processing: Ubiquitination & Proteasome degradation

UniProtKB/Swiss-Prot: RN123_HUMAN, Q5XPI4

Pathway: Protein modification; protein ubiquitination

RNF123 for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Arrays including RNF123:

Ubiquitination (Ubiquitylation) Pathway in human mouse rat

Ubiquitin Ligases in human mouse rat

Interactions:

GeneGlobe Interaction Network for RNF123

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

Selected Interacting proteins for RNF123 (Q5XPI4^{2, 3} ENSP00000328287⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMAD2	Q15796²^,³, ENSP00000262160⁴	MINT-60930 I2D: score=3 STRING: ENSP00000262160
SMAD9	O15198²^,³, ENSP00000369154⁴	MINT-62113 I2D: score=3 STRING: ENSP00000369154
CDKN1B	P46527³, ENSP00000228872⁴	I2D: score=2 STRING: ENSP00000228872
PMS1	P54277³, ENSP00000406490⁴	I2D: score=1 STRING: ENSP00000406490
UBE2W	Q96B02³, ENSP00000397453⁴	I2D: score=1 STRING: ENSP00000397453

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Gene Ontology (GO): 1 biological process term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016567	protein ubiquitination	IEA	--

RNF123 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for RNF123 (RN123)

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for RNF123 gene:

NM_022064.3

Unigene Cluster for RNF123:

Ring finger protein 123

Hs.553723 [show with all ESTs]

Unigene Representative Sequence: CR627051

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

ENST00000327697(uc003cxh.3) ENST00000432042 ENST00000457726(uc010hky.1 uc003cxi.3)

ENST00000454491 ENST00000443204 ENST00000486102 ENST00000487805 ENST00000494005

ENST00000469978 ENST00000433785 ENST00000444689 ENST00000497099 ENST00000498376

miRNA Products:		Block miRNA regulation of human, mouse, rat RNF123 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate RNF123 (see all 10):
		hsa-miR-328 hsa-miR-3136-5p hsa-miR-1260b hsa-miR-1291 hsa-miR-1260 hsa-miR-532-3p hsa-miR-155 hsa-miR-3121-3p

		SwitchGear 3'UTR luciferase reporter plasmid: RNF123 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for RNF123
		Predesigned siRNA for gene silencing in human, mouse, rat RNF123

Clone Products:		OriGene clones in human, mouse for RNF123 (see all 8) OriGene ORF clones in mouse, rat for RNF123 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: RNF123 (NM_022064)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for RNF123
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RNF123

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for RNF123
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat RNF123
		QuantiTect SYBR Green Assays in human, mouse, rat RNF123
		QuantiFast Probe-based Assays in human, mouse, rat RNF123

Additional mRNA sequence:

AF370367.1 AK022627.1 AK026968.1 AK090632.1 AK096353.1 AK126883.1 AK308130.1 AK308607.1

AL136729.1 AL832034.1 AL832138.1 AL832344.1 AY744152.1 BC041145.1 BC057392.1 BC088801.1

BC112900.1 BC130632.1 CR627051.1

24 DOTS entries:

DT.443599 DT.95366039 DT.120904439 DT.95310662 DT.120904375 DT.97800486 DT.95326952 DT.99938348

DT.92441962 DT.95124893 DT.99972057 DT.100878932 DT.120904176 DT.100878941 DT.100737191 DT.120904131

DT.120904699 DT.120904703 DT.120904741 DT.95124902 DT.120904152 DT.120904332 DT.120904572 DT.99943689

Selected AceView cDNA sequences (see all 194):

AA583043 CN481340 AL559380 BF059265 CO399700 AA315497 BQ651614 NM_022064

BM929934 BM791710 CR618929 BE782259 BX324406 BE041315 BU190204 BF724213

AL832138 BX281750 CB130770 AA644221 BC041145 BC057392 H58920 AK090632

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for RNF123 (see all 10) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13a	·	13b	^	14	^	15	^	16	^	17a	·	17b	^	18a	·	18b	^	19a	·	19b	^	20a	·	20b	·	20c	^
SP1:
SP2:
SP3:
SP4:																																							-
SP5:

ExUns:	21	^	22	^	23	^	24	^	25	^	26	^	27	^	28	^	29	^	30	^	31
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for RNF123

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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RNF123 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GCCCTAATTG

About this image

RNF123 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

RNF123 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.553723

Pathway & Disease-focused RT² Profiler PCR Arrays including RNF123:

Ubiquitination (Ubiquitylation) Pathway in human mouse rat

Ubiquitin Ligases in human mouse rat

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for RNF123
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat RNF123
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		QuantiFast Probe-based Assays in human, mouse, rat RNF123

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNF123

(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)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for RNF123 gene from Selected species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Rnf123^{1 , 5}	ring finger protein 123^{1, 5}	89.09(n)¹ 93.84(a)¹		9 (59.07 cM)⁵ 84585¹ NM_032543.2¹ NP_115932.1¹ 108051534⁵
chicken (Gallus gallus)	Aves	RNF123¹	ring finger protein 123	76.09(n) 80.15(a)		415923 XM_003641964.2 XP_003642012.2
lizard (Anolis carolinensis)	Reptilia	RNF123⁶	ring finger protein 123	80(a)	1 ↔ 1	2(147153269-147285743)
African clawed frog (Xenopus laevis)	Amphibia	Xl.10089²	Xenopus laevis transcribed sequence	83.67(n)		48025265
zebrafish (Danio rerio)	Actinopterygii	LOC101884269¹	E3 ubiquitin-protein ligase RNF123-like	72.88(n) 78.9(a)		101884269 XM_005161843.1 XP_005161900.1
fruit fly (Drosophila melanogaster)	Insecta	CG6752¹	CG6752	47.34(n) 34.59(a)		41826 NM_001260187.1 NP_001247116.1
thale cress (Arabidopsis thaliana)	eudicotyledons	RKP¹	RKP	41.17(n) 30.36(a)		816737 NM_179689.2 NP_850020.1

ENSEMBL Gene Tree for RNF123 (if available)
TreeFam Gene Tree for RNF123 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for RNF123 gene

RSPRY1²

RNF123 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs200815465^1,2	F	--	49656950(+)	`CCACTT/CGCCTT`	1	--	us2k¹		1		EU	301
rs145300894^1,2	F	--	49656977(+)	`ACAGCG/ACCCAG`	1	--	us2k¹		1		NA	4494
rs189135441^1,2		--	49657005(+)	`TGGGGC/TGAGTG`	1	--	us2k¹		0	--	--	--	--
rs182179992^1,2	C	--	49657006(+)	`GGGGCA/GAGTGT`	1	--	us2k¹		0	--	--	--	--
rs201833731^1,2	C,F	--	49657050(+)	`CTCACG/ATGTAG`	1	--	us2k¹		1		EU	240
rs186715278^1,2		--	49657135(+)	`GCCCAG/TTGGCC`	1	--	us2k¹		0	--	--	--	--
rs191996618^1,2	C	--	49657148(+)	`TCACCA/GGCAGT`	1	--	us2k¹		0	--	--	--	--
rs373890576^1,2	C	--	49657171(+)	`CACAGC/TGACCA`	1	--	us2k¹		0	--	--	--	--
rs201139383^1,2	C	--	49657198(+)	`CTGCCA/CCATCC`	1	--	us2k¹		1		EU	1323
rs113355022^1,2	C	--	49657218(+)	`GGCCCG/AGGCAC`	1	--	us2k¹		1		EU	1243

HapMap Linkage Disequilibrium report for RNF123 (49726932 - 49758962 bp)

Structural Variations
Database of Genomic Variants (DGV) 5 variations for RNF123: About this table

Variant ID	Type	Subtype	PubMed ID
nsv820990	CNV	Duplication	20802225
nsv508217	CNV	Loss	20534489
nsv482082	CNV	Gain	20164927
nsv822077	CNV	Gain	20364138
esv28815	CNV	Gain+Loss	19812545

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing RNF123

DNA2.0 Custom Variant and Variant Library Synthesis for RNF123

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 614472 OMIM disorders: --

5 diseases for RNF123: About MalaCards

endogenous depression moyamoya disease crohn's disease endotheliitis

malaria

RNF123 for disorders About GeneDecksing

Genetic Association Database (GAD): RNF123
Human Genome Epidemiology (HuGE) Navigator: RNF123 (1 document)

Export disorders for RNF123 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)
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PubMed articles for RNF123 gene, integrated from 10 sources (see all 35):
(articles sorted by number of sources associating them with RNF123)

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Role of the UBL-UBA protein KPC2 in degradation of p27 at G1 phase of the cell cycle. (PubMed id 16227581)^{1, 2, 9} Hara T.... Nakayama K. (Mol. Cell. Biol. 2005)
Association analysis of 3p21 with Crohn's disease in a New Zealand population. (PubMed id 20307617)^{1, 4} Morgan A.R....Ferguson L.R. (Hum. Immunol. 2010)
Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)^{1, 2} Wan D....Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
Cytoplasmic ubiquitin ligase KPC regulates proteolysis of p27(Kip1) at G1 phase. (PubMed id 15531880)^{1, 2} Kamura T.... Nakayama K. (Nat. Cell Biol. 2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
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. (Genome Res. 2004)
Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)^{1, 2} Wiemann S.... Poustka A. (Genome Res. 2001)
Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)¹ Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
A strategy for modulation of enzymes in the ubiquitin system. (PubMed id 23287719)¹ Ernst A.... Sidhu S.S. (Science 2013)
Ubiquitin ligase RNF123 mediates degradation of heterochromatin protein 1I+ and I^ in lamin A/C knock-down cells. (PubMed id 23077635)¹ Chaturvedi P....Parnaik V.K. (PLoS ONE 2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 63891	HGNC: 21148	AceView: RNF123	Ensembl:ENSG00000164068	euGenes: HUgn63891
ECgene: RNF123	H-InvDB: RNF123

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for RNF123	Pharmacogenomics, SNPs, Pathways

Intellectual Property for RNF123 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for RNF123 gene:
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Ring Finger Protein 123

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