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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MRPL54 Gene

protein-coding   GIFtS: 45
GCID: GC19P003762

Mitochondrial Ribosomal Protein L54

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Mitochondrial Ribosomal Protein L541 2
L54mt2 3
MRP-L542 3
39S Ribosomal Protein L54, Mitochondrial2

External Ids:    HGNC: 166851   Entrez Gene: 1165412   Ensembl: ENSG000001836177   OMIM: 6118585   UniProtKB: Q6P1613   

Export aliases for MRPL54 gene to outside databases

Previous GC identifers: GC19U990297 GC19P003702 GC19P003713 GC19P003527


(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 MRPL54 Gene:
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. (provided by RefSeq, Jul 2008)

GeneCards Summary for MRPL54 Gene: 
MRPL54 (mitochondrial ribosomal protein L54) is a protein-coding gene. Diseases associated with MRPL54 include gastric cancer.




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011255.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MRPL54 gene promoter:
         Max1   NF-1   NF-1/L   AML1a   p300   AP-2gamma   AP-2beta   AP-2alpha   AP-2alphaA   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMRPL54 promoter sequence
   Search SABiosciences Chromatin IP Primers for MRPL54

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MRPL54


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

MRPL54 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MRPL54 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P003762:  view genomic region     (about GC identifiers)

Start:
3,762,662 bp from pter      End:
3,768,573 bp from pter
Size:
5,912 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RM54_HUMAN, Q6P161 (See protein sequence)
Recommended Name: 39S ribosomal protein L54, mitochondrial precursor  
Size: 138 amino acids; 15819 Da
Subcellular location: Mitochondrion (By similarity)

Explore the universe of human proteins at neXtProt for MRPL54: NX_Q6P161

Explore proteomics data for MRPL54 at MOPED 

MRPL54 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

MRPL54 Protein Expression

REFSEQ proteins: NP_758455.1  
ENSEMBL proteins: 
 ENSP00000331849   ENSP00000467023  

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion IEA--
GO:0005840ribosome IEA--

MRPL54 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
MRPL: Mitochondrial ribosomal proteins / large subunits

1 InterPro protein domain:
 IPR013870 Ribosomal_L37_mit

Graphical View of Domain Structure for InterPro Entry Q6P161

ProtoNet protein and cluster: Q6P161


MRPL54 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,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Phenotypes:
     3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mrpl54):
 hematopoietic system  homeostasis/metabolism  immune system 

MRPL54 for phenotypes           About GeneDecksing

Animal Models:
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(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MRPL54

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

5/245 Interacting proteins for MRPL54 (Q6P1612, 3 ENSP000003318494) via UniProtKB, MINT, STRING, and/or I2D (see all 245)
InteractantInteraction Details
GeneCardExternal ID(s)
ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
AARS2Q5JTZ92MINT-8079030
AASSQ9UDR52MINT-8079030
ABCB7O750272MINT-8079030
ACAD9Q9H8452MINT-8079030
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 MRPL54 (RM54)

Search CenterWatch for drugs/clinical trials and news about MRPL54 / RM54

(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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MRPL54 gene: 
NM_172251.2  

Unigene Cluster for MRPL54:

Mitochondrial ribosomal protein L54
Hs.356578  [show with all ESTs]
Unigene Representative Sequence: BM920672
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000330133(uc002lyq.4) ENST00000589174
miRNA
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Inhib. RNA
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                     Customized lentivirus expression plasmids for stable overexpression of MRPL54 
Primer
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MRPL54
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MRPL54

Additional mRNA sequence: BC065273.1 

2 DOTS entries:

DT.414886  DT.100751845 

24/126 AceView cDNA sequences (see all 126):

AJ278551 BQ061807 CB054573 BM550737 BE858454 AA318567 BM704938 BM792364 
BM788514 BQ683417 AA482135 AJ346576 AJ713530 AA602313 BM796855 BI522869 
BM850344 AI302997 BE408478 BU734355 BM052694 AI148650 AA621695 AW732787 

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

MRPL54 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TGACCCCACA
MRPL54 Expression
About this image


See MRPL54 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MRPL54

SOURCE GeneReport for Unigene cluster: Hs.356578
    SABiosciences Custom PCR Arrays for MRPL54
Primer
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MRPL54
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRPL54

(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 MRPL54 gene from 6/13 species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Mrpl541 , 5 mitochondrial ribosomal protein L541, 5 75.56(n)1
70.37(a)1
  10 (39.72 cM)5
660471  NM_025317.21  NP_079593.11 
 812647135 
chicken
(Gallus gallus)
Aves LOC1008598671 39S ribosomal protein L54, mitochondrial-like 69.55(n)
62.5(a)
  100859867  XM_003642837.1  XP_003642885.1 
lizard
(Anolis carolinensis)
Reptilia MRPL546
Uncharacterized protein
62(a)
1 ↔ 1
AAWZ02036688(747-4119)
zebrafish
(Danio rerio)
Actinopterygii mrpl541 mitochondrial ribosomal protein L54 63.11(n)
63.11(a)
  100034614  XM_003201023.1  XP_003201071.1 
fruit fly
(Drosophila melanogaster)
Insecta mRpL546
mitochondrial ribosomal protein L54
36(a)
1 ↔ 1
2R(16948284-16949092)
worm
(Caenorhabditis elegans)
Secernentea mrpl-546
Protein MRPL-54
32(a)
1 ↔ 1
I(9159015-9159757)


ENSEMBL Gene Tree for MRPL54 (if available)
TreeFam Gene Tree for MRPL54 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for MRPL54 gene

MRPL54 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for MRPL54
PGOHUM00000247795


(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) 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

10/111 SNPs in MRPL54 are shown (see all 111)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1842968761,2
--3763858(+) TGAGCC/TGAGAT 1 -- int10--------
rs116676971,2
C,F,H--3763923(+) taaatA/Caataa 1 -- int11Minor allele frequency- C:0.33NA 6
rs1508596751,2
C--3764283(+) TCACCA/GTGTTA 1 -- int10--------
rs2009624461,2
--3764409(+) TTAGA-/TTTTTT 1 -- int10--------
rs118807601,2
C,H--3764657(+) gatctG/Tcccac 1 -- int12Minor allele frequency- T:0.00WA CSA 3
rs1889729181,2
C--3764689(+) GATTAC/TAGGCA 1 -- int10--------
rs1810383421,2
--3764892(+) GTGGTA/GGTGGG 1 -- int10--------
rs1855340461,2
--3764898(+) GTGGGC/TGCCTG 1 -- int10--------
rs118808191,2
C,F,H--3764918(+) CTACTC/TGGGAG 1 -- int16Minor allele frequency- T:0.25NA 12
rs1807891931,2
C--3764943(+) ATGGCG/TTGAAC 1 -- int10--------

HapMap Linkage Disequilibrium report for MRPL54 (3762662 - 3768573 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10/11 variations for MRPL54 (see all 11):    About this table     
Variant IDTypeSubtypePubMed ID
nsv509718CNV Insertion20534489
nsv910768CNV Loss21882294
dgv3651n71CNV Loss21882294
nsv910722CNV Loss21882294
nsv910775CNV Loss21882294
dgv3663n71CNV Loss21882294
nsv470114CNV Loss18288195
nsv910777CNV Loss21882294
nsv910770CNV Loss21882294
dgv3660n71CNV Loss21882294

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SeqTarget long-range PCR primers for resequencing MRPL54
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(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.)
About This Section
OMIM gene information: 611858    OMIM disorders: --

2 diseases for MRPL54:    About MalaCards
gastric cancer    


MRPL54 for disorders           About GeneDecksing

Genetic Association Database (GAD): MRPL54
Human Genome Epidemiology (HuGE) Navigator: MRPL54 (1 document)

Export disorders for MRPL54 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 MRPL54 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with MRPL54)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
  2. 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)
  3. The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. (PubMed id 11551941)1, 3 Koc E.C....Spremulli L.L. (2001)
  4. Quantitative study of the interactome of PKCz involved in the EGF-induced tumor cell chemotaxis. (PubMed id 23402259)1 Chen R....Zhang N. (2013)
  5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
  6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
  7. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)1 Richter R....Chrzanowska-Lightowlers Z.M. (2010)
  8. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
  9. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H....Kim N.S. (2005)
  10. Identification and characterization of over 100 mitochondrial ribosomal protein pseudogenes in the human genome. (PubMed id 12706105)1 Zhang Z. and Gerstein M. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
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: 116541 HGNC: 16685 AceView: MRPL54 Ensembl:ENSG00000183617 euGenes: HUgn116541
ECgene: MRPL54 H-InvDB: MRPL54

(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
NameDescription
PharmGKB entry for MRPL54 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for MRPL54 gene:
Search GeneIP for patents involving MRPL54

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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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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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