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MRPS18A Gene

protein-coding   GIFtS: 50
GCID: GC06M043639

Mitochondrial Ribosomal Protein S18A

  Search for MRPS18A
at  

(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 S18A1 2     28S Ribosomal Protein S18a, Mitochondrial2
28S Ribosomal Protein S18-3, Mitochondrial2 3     HumanS18b2
MRP-S18-32 3     S18bmt2
MRP-S18-a2 3     Mitochondrial Ribosomal Protein S18-32
S18mt-a2 3     Mrps18a3
MRPS18-32 5     

External Ids:    HGNC: 145151   Entrez Gene: 551682   Ensembl: ENSG000000960807   OMIM: 6119815   UniProtKB: Q9NVS23   

Export aliases for MRPS18A gene to outside databases

Previous GC identifers: GC06M043641 GC06M043685 GC06M043747 GC06M043357


(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 MRPS18A 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
28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that
has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human
mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18
proteins. A pseudogene corresponding to this gene is found on chromosome 3p. Alternative splicing results in
multiple transcript variants.(provided by RefSeq, Jul 2010)

GeneCards Summary for MRPS18A Gene:
MRPS18A (mitochondrial ribosomal protein S18A) is a protein-coding gene. GO annotations related to this gene include structural constituent of ribosome.

Gene Wiki entry for MRPS18A 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_000006.12  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MRPS18A gene promoter:
         HOXA9B   HOXA9   GR   STAT5B   GR-beta   E47   Evi-1   Hand1   GR-alpha   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMRPS18A promoter sequence
   Search Chromatin IP Primers for MRPS18A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MRPS18A


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

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p21.3

MRPS18A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MRPS18A gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M043639:  view genomic region     (about GC identifiers)

Start:
43,638,934 bp from pter      End:
43,655,549 bp from pter
Size:
16,616 bases      Orientation:
minus 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RT18A_HUMAN, Q9NVS2 (See protein sequence)
Recommended Name: 28S ribosomal protein S18a, mitochondrial precursor  
Size: 196 amino acids; 22184 Da
Subunit: Component of the mitochondrial ribosome small subunit (28S) which comprises a 12S rRNA and about 30
distinct proteins
Secondary accessions: A6XND3 Q5QPA4
Alternative splicing: 3 isoforms:  Q9NVS2-1   Q9NVS2-2   Q9NVS2-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MRPS18A: NX_Q9NVS2

Explore proteomics data for MRPS18A at MOPED


See MRPS18A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001180272.1  NP_060605.1  

ENSEMBL proteins: 
 ENSP00000361206   ENSP00000361188   ENSP00000398679  

MRPS18A Human Recombinant Protein Products:

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Cloud-Clone Corp. CLIAs for MRPS18A


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
MRPS: Mitochondrial ribosomal proteins / small subunits

1 InterPro protein domain:
 IPR001648 Ribosomal_S18

Graphical View of Domain Structure for InterPro Entry Q9NVS2

ProtoNet protein and cluster: Q9NVS2

1 Blocks protein domain: IPB001648 Ribosomal protein S18

UniProtKB/Swiss-Prot: RT18A_HUMAN, Q9NVS2
Similarity: Belongs to the ribosomal protein S18P family


MRPS18A 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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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003735structural constituent of ribosome NAS11279123
     
MRPS18A for ontologies           About GeneDecksing


Animal Models:
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miRNA
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hsa-mir-423-3p (MIRT042514)

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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
RT18A_HUMAN, Q9NVS2: Mitochondrion
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion5
cytosol2
extracellular1

Gene Ontology (GO): 4 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005622intracellular ----
GO:0005739mitochondrion ----
GO:0005763mitochondrial small ribosomal subunit IDA11279123
GO:0005840ribosome ----

MRPS18A 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 MRPS18A About    
See pathways by source

SuperPathContained pathways About
1CFTR translational fidelity class I mutations
Ribosome0.54

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



1 Kegg Pathway  (Kegg details for MRPS18A):
    Ribosome


MRPS18A for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MRPS18A
Interactions:

    Search GeneGlobe Interaction Network for MRPS18A

STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

Selected Interacting proteins for MRPS18A (Q9NVS22, 3 ENSP000003612064) via UniProtKB, MINT, STRING, and/or I2D (see all 253)
InteractantInteraction Details
GeneCardExternal ID(s)
ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
MRPS10P826642, ENSP000000534684MINT-8079030 STRING: ENSP00000053468
MRPS9P829332, ENSP000002584554MINT-8079030 STRING: ENSP00000258455
METTL17Q9H7H02, ENSP000003724454MINT-8079030 STRING: ENSP00000372445
MRPS2Q9Y3992, ENSP000002416004MINT-8079030 STRING: ENSP00000241600
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Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006412translation NAS11279123

MRPS18A 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 MRPS18A (RT18A)



(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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for MRPS18A gene (2 alternative transcripts): 
NM_001193343.1  NM_018135.3  

Unigene Cluster for MRPS18A:

Mitochondrial ribosomal protein S18A
Hs.520149  [show with all ESTs]
Unigene Representative Sequence: AK074642
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000372133(uc003ovy.2 uc003ovz.2 uc003owa.2) ENST00000372116(uc010jyw.3)
ENST00000427312
miRNA
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Primer
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  QuantiFast Probe-based Assays in human, mouse, rat MRPS18A

Additional mRNA sequence: 

AB049952.1 AK001410.1 AK074642.1 AK300757.1 AK307183.1 BC010364.1 DQ884400.1 

11 DOTS entries:

DT.445964  DT.91929236  DT.100771045  DT.97844627  DT.97800878  DT.100029856  DT.92427934  DT.100794042 
DT.101958407  DT.120844134  DT.121368290 

Selected AceView cDNA sequences (see all 224):

AI863932 BX401923 CR592702 AA331358 CR605035 BE791818 BM928632 BQ448321 
AA340719 CA417533 AA360045 BQ709964 AI524097 AA770554 AA970383 AA588858 
CB529177 CR625947 BQ055923 CA388706 CR611756 NM_018135 AK001410 BE385927 

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for MRPS18A    About this scheme

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b
SP1:                    -           -               
SP2:                    -                           
SP3:                    -     -     -               
SP4:                                                


ECgene alternative splicing isoforms for MRPS18A

(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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MRPS18A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGCCAAACAG
MRPS18A Expression
About this image

MRPS18A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

MRPS18A Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.520149
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRPS18A

(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 MRPS18A gene from Selected species (see all 15)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Mrps18a1 , 5 mitochondrial ribosomal protein S18A1, 5 82.99(n)1
81.12(a)1
  17 (22.86 cM)5
685651  NM_026768.31  NP_081044.11 
 461109865 
chicken
(Gallus gallus)
Aves MRPS18A1 mitochondrial ribosomal protein S18A 67.41(n)
68.33(a)
  421445  NM_001277623.1  NP_001264552.1 
lizard
(Anolis carolinensis)
Reptilia MRPS18A6
mitochondrial ribosomal protein S18A
64(a)
1 ↔ 1
GL343854.1(44351-77155)
African clawed frog
(Xenopus laevis)
Amphibia Xl.132032 Xenopus laevis transcribed sequence with weak similarity more 72.6(n)    48062563 
zebrafish
(Danio rerio)
Actinopterygii Dr.147902 Transcribed sequence with weak similarity to protein more 71.2(n)    BG306910.1 
fruit fly
(Drosophila melanogaster)
Insecta mRpS18A6
mitochondrial ribosomal protein S18A
35(a)
1 ↔ 1
3R(4387628-4388305)
worm
(Caenorhabditis elegans)
Secernentea mrps-18A6
Protein MRPS-18A (mrps-18A) mRNA, complete cds
25(a)
1 ↔ 1
III(8330173-8331919) WBGene00022583


ENSEMBL Gene Tree for MRPS18A (if available)
TreeFam Gene Tree for MRPS18A (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for MRPS18A gene

MRPS18A for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for MRPS18A
PGOHUM00000263114


(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 MRPS18A (see all 381)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1393220691,2
C--43639371(+) GTCCA-/TGCATG 2 -- ut310--------
rs1839288031,2
--43639421(+) TATAGC/TTGTGG 2 -- ut310--------
rs1159247551,2
C--43639463(+) CAGCAC/GAGGTG 2 -- ut312Minor allele frequency- G:0.01WA EU 1431
rs2018392771,2
--43639466(+) CACAGC/GTGCAG 2 -- ut310--------
rs2010635211,2
--43639504(+) TCAGTA/GATACA 3 H Y mis1 ut310--------
rs1457826281,2
C--43639518(+) TCCAAC/GGTGTT 3 P R mis1 ut310--------
rs2004614781,2
--43639528(+) TCTTGA/GGTAGC 3 P S mis1 ut310--------
rs2018783281,2
C--43639548(+) CCCTCA/GGAAGG 3 P L mis1 ut310--------
rs1995308791,2
--43639569(+) CGGGCA/TTGCGC 3 K M mis1 ut310--------
rs1382891411,2
C--43639572(+) GCATGC/TGCACC 3 H R mis1 ut311Minor allele frequency- T:0.00NA 4550

HapMap Linkage Disequilibrium report for MRPS18A (43638934 - 43655549 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for MRPS18A: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing MRPS18A
DNA2.0 Custom Variant and Variant Library Synthesis for MRPS18A

(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: 611981    OMIM disorders: --


MRPS18A for disorders           About GeneDecksing

Genetic Association Database (GAD): MRPS18A
Human Genome Epidemiology (HuGE) Navigator: MRPS18A (4 documents)

Export disorders for MRPS18A 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 MRPS18A gene, integrated from 10 sources (see all 16):
(articles sorted by number of sources associating them with MRPS18A)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The small subunit of the mammalian mitochondrial ribosome: identification of the full complement of ribosomal proteins present. (PubMed id 11279123)1, 2, 3 Koc E.C.... Spremulli L.L. (J. Biol. Chem. 2001)
  2. 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)
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
  4. 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)
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
  7. Proteomic analysis of the mammalian mitochondrial ribosome. Identification of protein components in the 28S small subunit. (PubMed id 11402041)1, 2 Suzuki T....Watanabe K. (J. Biol. Chem. 2001)
  8. The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. (PubMed id 11543634)1, 3 Kenmochi N.... Tanaka T. (Genomics 2001)
  9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
  10. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)

(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: 55168 HGNC: 14515 AceView: MRPS18A Ensembl:ENSG00000096080 euGenes: HUgn55168
ECgene: MRPS18A Kegg: 55168 H-InvDB: MRPS18A

(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 MRPS18A 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 MRPS18A gene:
Search GeneIP for patents involving MRPS18A

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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