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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RFPL4A Gene

protein-coding GIFtS: 39
GCID: GC19P056270

ret finger protein-like 4A

(Previous name: ret finger protein-like 4 )
(Previous symbol: RFPL4)

Explore 2 diseases affiliated with
RFPL4A via

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
Ret Finger Protein-Like 4A¹ ²
RNF210¹ ² ³ ⁵
RFPL4¹ ² ³
Ret Finger Protein-Like 4¹ ²
RING Finger Protein 210² ³

External Ids:	HGNC: 16449¹	Entrez Gene: 342931²	Ensembl: ENSG00000223638⁷	OMIM: 612601⁵	UniProtKB: A6NLU0³

Export aliases for RFPL4A gene to outside databases

Previous GC identifer: GC19P060963

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

(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_000019.9 NC_018930.1 NT_011109.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RFPL4A gene promoter:
C/EBPbeta FOXD1 Nkx2-5 NF-kappaB Nkx6-1 NF-kappaB2 NF-Y NF-kappaB1 En-1 CBF(2)
Other transcription factors

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RFPL4A

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

Entrez Gene cytogenetic band: 19q13.42 Ensembl cytogenetic band: 19q13.42 HGNC cytogenetic band: 19q13.42

RFPL4A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RFPL4A gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P056270: view genomic region (about GC identifiers)

Start:	56,270,380 bp from pter	End:	56,274,541 bp from pter
Size:	4,162 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: RFPLA_HUMAN, A6NLU0 (See protein sequence)

Recommended Name: Ret finger protein-like 4A

Size: 287 amino acids; 32238 Da

1 PDB 3D structure from and Proteopedia for RFPL4A:

2FBE (3D)

Explore the universe of human proteins at neXtProt for RFPL4A: NX_A6NLU0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_A6NLU0

RFPL4A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001138486.1

ENSEMBL proteins:

ENSP00000392936

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

RFPL4A for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR001841 Znf_RING

IPR001870 B30.2/SPRY

IPR013083 Znf_RING/FYVE/PHD

IPR003879 Butyrophylin

IPR006574 PRY

Graphical View of Domain Structure for InterPro Entry A6NLU0

ProtoNet protein and cluster: A6NLU0

UniProtKB/Swiss-Prot: RFPLA_HUMAN, A6NLU0

Similarity: Contains 1 B30.2/SPRY domain

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

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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008270	zinc ion binding	IEA	--

RFPL4A for ontologies About GeneDecksing

(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

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for RFPL4A

3 Interacting proteins for RFPL4A (A6NLU0³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CCNB1	P14635³	I2D: score=1
PSMB1	P20618³	I2D: score=1
UBE2A	P49459³	I2D: score=1

About this table

(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 RFPL4A
Search CenterWatch for drugs/clinical trials and news about RFPL4A / RFPLA

(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 RFPL4A gene:

NM_001145014.1

Unigene Cluster for RFPL4A:

Ret finger protein-like 4A

Hs.631553 [show with all ESTs]

Unigene Representative Sequence: NM_001145014

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000434937(uc010yge.2)

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1 AceView cDNA sequence:

CA454993

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

RFPL4A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTGAGCACT

About this image

RFPL4A expression in embryonic tissues and stem cells

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

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Secondary follicles (Primary Cell)

Ovary, Reproductive System

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See RFPL4A Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.631553

SABiosciences Custom PCR Arrays for RFPL4A

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In Situ
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(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 RFPL4A gene from 2/6 species (see all 6) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	MEFV⁶	--	26(a)	1 → many	2(190144914-190149049)
zebrafish (Danio rerio)	Actinopterygii	btr04⁶ btr02⁶ (see all 27)	bloodthirsty-related gene family, member 2 (see all 27)	19(a) 18(a) (see all 27)	many ↔ many many ↔ many (see all 27)	7(16950705-16960473) 3(47625625-47637219)

ENSEMBL Gene Tree for RFPL4A (if available)
TreeFam Gene Tree for RFPL4A (if available)

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

Paralogs for RFPL4A gene

LOC729974 RFPL1² TRIML2² MEFV² RFPL4AL1² RFPL3² RFPL2² RFPL4B²

10 SIMAP similar genes for RFPL4A using alignment to 1 protein entry: RFPLA_HUMAN:

LOC729974 RFPL1 RFPL3 RFPL2 MEFV TRIM27

TRIM21 RFPL4B TRIM39 BT3.3

RFPL4A for paralogs About GeneDecksing

5 Pseudogenes.org Pseudogenes for RFPL4A
PGOHUM00000258587 PGOHUM00000246557 PGOHUM00000245479 PGOHUM00000232590 PGOHUM00000249702

(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 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs190027997^1,2		--	56268513(+)	`ATGTTA/CTCACT`	1	--	us2k¹		0	--	--	--	--
rs74591964^1,2	C	--	56268552(+)	`CATGGA/GCACAG`	1	--	us2k¹		3		NA	8
rs113156810^1,2		--	56268574(+)	`TCACAC/TACTGG`	1	--	us2k¹		1		CSA	2
rs75920341^1,2	F	--	56268583(+)	`GGGACC/TTGTCG`	1	--	us2k¹		2		NA	6
rs141859721^1,2		--	56268595(+)	`GGGGCG/TGGGGG`	1	--	us2k¹		0	--	--	--	--
rs12977935^1,2	C,A,	--	56268615(+)	`GGATAG/ACATTA`	1	--	us2k¹		5		NA WA CSA	9
rs57811722^1,2		--	56268653(+)	`GTTGAC/TGGGTG`	1	--	us2k¹		2		CSA NA	121
rs182257603^1,2	C,	--	56268675(+)	`CATGGC/GACATC`	1	--	us2k¹		0	--	--	--	--
rs79559880^1,2	C,	--	56268682(+)	`CATCTG/ATACCT`	1	--	us2k¹		1		CSA	2
rs199634619^1,2		--	56268738(+)	`TATAA-/TTTAAA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for RFPL4A (56270380 - 56274541 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 12 variations for RFPL4A
12 CNVs: 78281 43664 32276 73437 89328 3202 23204 35685 37797 102883 61725 78282

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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

RFPL4A for disorders           About GeneDecksing

OMIM gene information: 612601    OMIM disorders: --

2 diseases for RFPL4A:    About MalaCards

premature ovarian failure amenorrhea

1 disease from the University of Copenhagen DISEASES database for RFPL4A:

Premature ovarian failure

Human Genome Epidemiology (HuGE) Navigator: RFPL4A (1 document)

Export disorders for RFPL4A 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 RFPL4A gene integrated from 9 sources:
(articles sorted by number of sources associating them with RFPL4A)

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

Structure of the PRYSPRY-domain: implications for autoinflammatory diseases. (PubMed id 16364311)^{1, 2} Gruetter C.... Gruetter M.G. (2006)
The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)^{1, 2} Grimwood J.... Lucas S.M. (2004)
The ret finger protein-like 4 gene, Rfpl4, encodes a putative E3 ubiquitin-protein ligase expressed in adult germ cells. (PubMed id 11850190)^{1, 3} Rajkovic A....Matzuk M.M. (2002)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)

(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: 342931	HGNC: 16449	AceView: LOC342931	Ensembl:ENSG00000223638	euGenes: HUgn342931
ECgene: RFPL4A	H-InvDB: RFPL4A

(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 RFPL4A	Pharmacogenomics, SNPs, Pathways

Intellectual Property for RFPL4A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for RFPL4A gene:
Search GeneIP for patents involving RFPL4A

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),
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About This Section


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RFPL4A Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for RFPL4A

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for RFPL4A

	Browse SwitchGear 3'UTR luciferase reporter plasmids for RFPL4A
	Browse SwitchGear Promoter luciferase reporter plasmids for RFPL4A

ThermoFisher Antibodies for RFPL4A

Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat RFPL4A

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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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

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

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RFPL4A Gene

ret finger protein-like 4A

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RFPL4A Gene

ret finger protein-like 4A

Aliasesfor RFPL4A gene

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Genomic Viewsfor RFPL4A gene

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Genome Databases showing RFPL4A gene

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Specialized Databases showing RFPL4A gene

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for RFPL4A gene

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for RFPL4A gene

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for RFPL4A gene

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for RFPL4A gene

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for RFPL4A gene

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for RFPL4A gene

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for RFPL4A gene

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