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MRPL54 Gene

protein-coding   GIFtS: 45
GCID: GC19P003762

Mitochondrial Ribosomal Protein L54

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(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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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.




(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 at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011295.12  
Regulatory elements:
   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
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RM54_HUMAN, Q6P161 (See protein sequence)
Recommended Name: 39S ribosomal protein L54, mitochondrial precursor  
Size: 138 amino acids; 15819 Da

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

Explore proteomics data for MRPL54 at MOPED


See MRPL54 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_758455.1  
ENSEMBL proteins: 
 ENSP00000331849   ENSP00000467023  

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


Find genes that share domains with MRPL54           About GenesLikeMe


(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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0044822poly(A) RNA binding IDA--
     
Find genes that share ontologies with MRPL54           About GenesLikeMe


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

Find genes that share phenotypes with MRPL54           About GenesLikeMe

Animal Models:
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(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
RM54_HUMAN, Q6P161: Mitochondrion (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion2
nucleus2
cytosol1

Gene Ontology (GO): 2 cellular component terms:    About this table

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

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(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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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MRPL54
Interactions:

    Search GeneGlobe Interaction Network for MRPL54

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

Selected Interacting proteins for MRPL54 (Q6P1612, 3 ENSP000003318494) via UniProtKB, MINT, STRING, and/or I2D (see all 247)
InteractantInteraction Details
GeneCardExternal ID(s)
ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
MRPL11Q9Y3B72, ENSP000003088974MINT-8079030 STRING: ENSP00000308897
AARS2Q5JTZ92MINT-8079030
AASSQ9UDR52MINT-8079030
ABCB7O750272MINT-8079030
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(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 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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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
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Additional mRNA sequence: BC065273.1 

2 DOTS entries:

DT.414886  DT.100751845 

Selected AceView cDNA sequences (see all 126):

AJ346576 BM796855 AA482135 BE858454 BQ683417 AA318567 BQ061807 AJ278551 
BM704938 AA602313 CB054573 BM550737 BM788514 BM792364 AJ713530 BU193635 
NM_172251 BF035562 CF127233 BM819401 CK822934 BU552867 BM920672 AA610205 

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™, 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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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

MRPL54 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

MRPL54 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.356578
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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)
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This gene was present in the common ancestor of animals.

Orthologs for MRPL54 gene from Selected 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 MRPL541 mitochondrial ribosomal protein L54 66.99(n)
60.58(a)
  100859867  XM_003642837.2  XP_003642885.1 
lizard
(Anolis carolinensis)
Reptilia MRPL546
mitochondrial ribosomal protein L54
60(a)
1 ↔ 1
AAWZ02036688(747-4119)
tropical clawed frog
(Xenopus tropicalis)
Amphibia mrpl541 mitochondrial ribosomal protein L54 63.42(n)
63.72(a)
  100494879  XM_002941391.2  XP_002941437.1 
zebrafish
(Danio rerio)
Actinopterygii mrpl541 mitochondrial ribosomal protein L54 63.14(n)
62.5(a)
  100034614  XM_003201023.2  XP_003201071.1 
fruit fly
(Drosophila melanogaster)
Insecta mRpL546
mitochondrial ribosomal protein L54
38(a)
1 ↔ 1
2R(16948284-16949092)


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)
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Paralogs for MRPL54 gene

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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), 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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Selected SNPs for MRPL54 (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) Selected 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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(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.)
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OMIM gene information: 611858    OMIM disorders: --


Find genes that share disorders with MRPL54           About GenesLikeMe

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)
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PubMed articles for MRPL54 gene, integrated from 10 sources (see all 14):
(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 genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 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. (Genome Res. 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. (J. Biol. Chem. 2001)
  4. Quantitative study of the interactome of PKCIP involved in the EGF-induced tumor cell chemotaxis. (PubMed id 23402259)1 Chen R....Zhang N. (J. Proteome Res. 2013)
  5. 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)
  6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
  7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
  8. A whole genome screen for HIV restriction factors. (PubMed id 22082156)1 Liu L....McKnight A. (Retrovirology 2011)
  9. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)1 Richter R....Chrzanowska-Lightowlers Z.M. (EMBO J. 2010)
  10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 116541 HGNC: 16685 AceView: MRPL54 Ensembl:ENSG00000183617 euGenes: HUgn116541
ECgene: MRPL54 H-InvDB: MRPL54

(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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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.)
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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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Search Tocris compounds for MRPL54 (RM54)
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MRPL54
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 Search Addgene for plasmids for MRPL54
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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