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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MRPL52 Gene

protein-coding GIFtS: 41
GCID: GC14P023299

mitochondrial ribosomal protein L52

Explore 1 disease affiliated with
MRPL52 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
Mitochondrial Ribosomal Protein L52¹ ²
L52mt² ³
MRP-L52² ³
39S Ribosomal Protein L52, Mitochondrial²

External Ids:	HGNC: 16655¹	Entrez Gene: 122704²	Ensembl: ENSG00000172590⁷	OMIM: 611856⁵	UniProtKB: Q86TS9³

Export aliases for MRPL52 gene to outside databases

Previous GC identifers: GC00U991113 GC14P021289 GC14P022368 GC14P003416

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

Entrez Gene summary for MRPL52:

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the

mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They

have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed.

Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA.

Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in

biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein

which has no bacterial homolog. Multiple transcript variants encoding different protein isoforms were identified

through sequence analysis. (provided by RefSeq, Jul 2008)

(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_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MRPL52 gene promoter:
AP-2alpha isoform 3 ATF-2 AP-2alpha isoform 2 E47 E2F-1 E2F AP-2alpha isoform 4 c-Jun AP-2alpha AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MRPL52 promoter sequence

Search SABiosciences Chromatin IP Primers for MRPL52

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MRPL52

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

Entrez Gene cytogenetic band: 14q11.2 Ensembl cytogenetic band: 14q11.2 HGNC cytogenetic band: 14q11.2

MRPL52 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MRPL52 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14P023299: view genomic region (about GC identifiers)

Start:	23,299,088 bp from pter	End:	23,304,246 bp from pter
Size:	5,159 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: RM52_HUMAN, Q86TS9 (See protein sequence)

Recommended Name: 39S ribosomal protein L52, mitochondrial precursor

Size: 123 amino acids; 13664 Da

Subunit: Component of the mitochondrial ribosome large subunit (39S) which comprises a 16S rRNA and about 50 distinct

proteins (By similarity)

Subcellular location: Mitochondrion (By similarity)

Sequence caution: Sequence=CAD66556.1; Type=Erroneous initiation;

Secondary accessions: A6NMQ8 A8MYI6 G3XCN9 Q6NVH8

Alternative splicing: 3 isoforms: Q86TS9-1 Q86TS9-2 Q86TS9-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MRPL52: NX_Q86TS9

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q86TS9

MRPL52 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (6 alternative transcripts):

NP_848026.1 NP_851313.1 NP_851821.1 NP_851822.1 NP_851823.1 NP_851824.1

ENSEMBL proteins:

ENSP00000347277 ENSP00000380633 ENSP00000451081 ENSP00000406655 ENSP00000451303

ENSP00000451832 ENSP00000380642 ENSP00000451436 ENSP00000310762 ENSP00000451481

ENSP00000451809

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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:0005739	mitochondrion	--	--
GO:0005762	mitochondrial large ribosomal subunit	ISS	--
GO:0005840	ribosome	--	--

MRPL52 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

ProtoNet protein and cluster: Q86TS9

(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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In Situ Assay
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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:0003735	structural constituent of ribosome	ISS	--

MRPL52 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 MRPL52

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006412	translation	ISS	--

MRPL52 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

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Browse Tocris compounds for MRPL52
Search CenterWatch for drugs/clinical trials and news about MRPL52 / RM52

(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 MRPL52 gene (6 alternative transcripts):

NM_178336.2 NM_180982.2 NM_181304.2 NM_181305.2 NM_181306.2 NM_181307.2

Unigene Cluster for MRPL52:

Mitochondrial ribosomal protein L52

Hs.355935 [show with all ESTs]

Unigene Representative Sequence: NM_181304

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

ENST00000557543 ENST00000355151(uc001wgw.4 uc001wgx.4 uc001wgy.4 uc001wgz.4 uc001wha.4 uc001whb.4)

ENST00000556214 ENST00000553482 ENST00000556654 ENST00000397496 ENST00000555345

ENST00000432849 ENST00000553711 ENST00000556465 ENST00000397505 ENST00000557221

ENST00000311892 ENST00000556840 ENST00000461594 ENST00000555536 ENST00000556297

ENST00000553965

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		hsa-miR-34b* hsa-miR-3673 hsa-miR-206 hsa-miR-34c-5p hsa-miR-4271 hsa-miR-449b hsa-miR-2110 hsa-miR-548e

		SwitchGear 3'UTR luciferase reporter plasmid: MRPL52 3' UTR sequence

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Additional cDNA sequence:

AK000450.1 AK292011.1 BC055381.1 BC068070.1 BX248749.1

8 DOTS entries:

DT.91894617 DT.100795062 DT.100035049 DT.95272461 DT.100035041 DT.97861775 DT.204806 DT.100045857

24/141 AceView cDNA sequences (see all 141):

AI749104 AA862400 F36474 AA143237 BE774280 BU153792 NM_178336 AW954782

AI310201 AI079317 NM_181304 BE253105 NM_180981 AI689385 BF718483 BX248749

AK000450 CR614140 NM_180982 AI382677 BF718281 NM_181307 AI362876 NM_181305

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for MRPL52 (see all 12) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	^	2	^	3a	·	3b	·	3c	·	3d	^	4	^	5a	·	5b	^	6a	·	6b	·	6c
SP1:									-						-		-		-		-				-
SP2:									-						-		-		-		-				-
SP3:									-						-		-		-		-
SP4:															-		-		-						-
SP5:															-		-		-				-		-

ECgene alternative splicing isoforms for MRPL52

(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

MRPL52 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCAGCTCAGG

About this image

MRPL52 expression in embryonic tissues and stem cells

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

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Skeletal Muscle

Hyoid Arch Muscles

Myoblasts

Skeletal Muscle

Mandibular Arch Muscles

Myoblasts

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MRPL52 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MRPL52

SOURCE GeneReport for Unigene cluster: Hs.355935

SABiosciences Custom PCR Arrays for MRPL52

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In Situ
Assay Products:

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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 animals.

Orthologs for MRPL52 gene from 4/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mrpl52^{1 , 5}	mitochondrial ribosomal protein L52^{1, 5}	86.78(n)¹ 85.12(a)¹		14 (27.78 cM)⁵ 68836¹ NM_026851.2¹ NP_081127.1¹ 54426909⁵
lizard (Anolis carolinensis)	Reptilia	MRPL52⁶	--	46(a)	1 ↔ 1	GL343491.1(568273-571400)
zebrafish (Danio rerio)	Actinopterygii	CR936517.2⁶	--	44(a)	1 ↔ 1	7(25281977-25284234)
fruit fly (Drosophila melanogaster)	Insecta	mRpL52⁶	mitochondrial ribosomal protein L52	33(a)	1 ↔ 1	2R(3561226-3561908)

ENSEMBL Gene Tree for MRPL52 (if available)
TreeFam Gene Tree for MRPL52 (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 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs142278355^1,2		--	23297120(+)	`CACCCA/GCCTTG`	6	--	us2k¹		0	--	--	--	--
rs191467089^1,2		--	23297231(+)	`TGCTTA/TCCAAA`	6	--	us2k¹		0	--	--	--	--
rs4982684^1,2	C,F,H,	--	23297244(+)	`GTGAAC/ACCCCA`	6	--	us2k¹		11		NA WA CSA EA	375
rs184740204^1,2		--	23297245(+)	`TGAAAC/GCCCAA`	6	--	us2k¹		0	--	--	--	--
rs151236409^1,2		--	23297258(+)	`TTTGAA/GACAGG`	6	--	us2k¹		0	--	--	--	--
rs189562149^1,2		--	23297554(+)	`GAATAA/TGCATC`	6	--	us2k¹		0	--	--	--	--
rs139332438^1,2		--	23297572(+)	`GTGAGC/TAGACA`	6	--	us2k¹		0	--	--	--	--
rs1028649^1,2	C,F,H,	--	23297667(-)	`GCCAGG/TTGTGA`	6	--	us2k¹		25		NS EA NA WA CSA	2698
rs113801688^1,2		--	23297685(+)	`TAATGG/CGCTCT`	6	--	us2k¹		1		CSA	2
rs146496446^1,2		--	23297716(+)	`TATAAA/GGCACT`	6	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MRPL52 (23299088 - 23304246 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MRPL52: --

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

MRPL52 for disorders           About GeneDecksing

OMIM gene information: 611856    OMIM disorders: --

1 disease for MRPL52:    About MalaCards

genetic disease

Human Genome Epidemiology (HuGE) Navigator: MRPL52 (1 document)

Export disorders for MRPL52 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 MRPL52 gene, integrated from 9 sources (see all 14):
(articles sorted by number of sources associating them with MRPL52)

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

The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. (PubMed id 11551941)^{1, 2, 3} Koc E.C....Spremulli L.L. (2001)
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)
Evolution of a protein-rich mitochondrial ribosome: implications for human genetic disease. (PubMed id 11943462)^{1, 3} O'Brien T.W. (2002)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (2011)
Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)¹ Hendrickson S.L....O'Brien S.J. (2010)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)
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)
Transcriptome analysis of human gastric cancer. (PubMed id 16341674)¹ Oh J.H....Kim N.S. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (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: 122704	HGNC: 16655	AceView: MRPL52	Ensembl:ENSG00000172590	euGenes: HUgn122704
ECgene: MRPL52	H-InvDB: MRPL52

(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 MRPL52	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MRPL52 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for MRPL52 gene:
Search GeneIP for patents involving MRPL52

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: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 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

The GeneCards Human Gene Database

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

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MRPL52 Gene

mitochondrial ribosomal protein L52

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MRPL52 Gene

mitochondrial ribosomal protein L52

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