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MRPS5 mitochondrial ribosomal protein S5 [ Homo sapiens (human) ]

Gene ID: 64969, updated on 5-Mar-2024

Summary

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Official Symbol
MRPS5provided by HGNC
Official Full Name
mitochondrial ribosomal protein S5provided by HGNC
Primary source
HGNC:HGNC:14498
See related
Ensembl:ENSG00000144029 MIM:611972; AllianceGenome:HGNC:14498
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
S5mt; uS5m; MRP-S5
Summary
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 S5P family. Pseudogenes corresponding to this gene are found on chromosomes 4q, 5q, and 18q. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 9.5), duodenum (RPKM 9.0) and 25 other tissues See more
Orthologs
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Genomic context

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See MRPS5 in Genome Data Viewer
Location:
2q11.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (95085369..95122003, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (95591870..95628506, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (95751114..95787748, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene mal, T cell differentiation protein Neighboring gene uncharacterized LOC124906047 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:95713447-95713986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16181 Neighboring gene uncharacterized LOC124907857 Neighboring gene uncharacterized LOC105373488 Neighboring gene NANOG hESC enhancer GRCh37_chr2:95753198-95753763 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11739 Neighboring gene zinc finger protein 514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11740 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:95830542-95831178 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:95831179-95831813 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:95843643-95844143 Neighboring gene zinc finger protein 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mutant MRPS5 affects mitoribosomal accuracy and confers stress-related behavioral alterations. Akbergenov R, et al. EMBO Rep, 2018 Nov. PMID 30237157, Free PMC Article
  2. Interactions of human ribosomal proteins S16 and S5 with an 18S rRNA fragment containing their binding sites. Malygin AA, et al. Biochimie, 2009 Sep. PMID 19559069
  3. Identification of four proteins from the small subunit of the mammalian mitochondrial ribosome using a proteomics approach. Koc EC, et al. Protein Sci, 2001 Mar. PMID 11344316, Free PMC Article
  4. p32/gC1qR is indispensable for fetal development and mitochondrial translation: importance of its RNA-binding ability. Yagi M, et al. Nucleic Acids Res, 2012 Oct. PMID 22904065, Free PMC Article
  5. The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. Kenmochi N, et al. Genomics, 2001 Sep. PMID 11543634

See all (77) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mutation V336Y in MRPS5 confers mitoribosomal misreading in in organello translation.
    Title: Mutant MRPS5 affects mitoribosomal accuracy and confers stress-related behavioral alterations.
  2. Data demonstrated that while ribosomal proteins S16 and S5 is able to bind to the 18S rRNA independently, their simultaneous binding has a noticeable synergetic effect.
    Title: Interactions of human ribosomal proteins S16 and S5 with an 18S rRNA fragment containing their binding sites.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables structural constituent of ribosome IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in mitochondrial translation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in translation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in mitochondrial inner membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
part_of mitochondrial small ribosomal subunit IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of mitochondrial small ribosomal subunit IDA
Inferred from Direct Assay
more info
 PubMed 
part_of mitochondrial small ribosomal subunit NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
small ribosomal subunit protein uS5m
Names
28S ribosomal protein S5, mitochondrial
mitochondrial 28S ribosomal protein S5
mitochondrial small ribosomal subunit protein uS5m

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001321995.2 → NP_001308924.1  small ribosomal subunit protein uS5m isoform b

    Status: REVIEWED

    Source sequence(s)
    AC092835
    Consensus CDS
    CCDS92806.1
    UniProtKB/TrEMBL
    A0A8Q3SIP9, A0A8Q3WKG3
    Related
    ENSP00000511925.1, ENST00000695434.1
    Conserved Domains (3) summary
    TIGR01021
    Location:138 → 293
    rpsE_bact; ribosomal protein S5, bacterial/organelle type
    pfam00333
    Location:139 → 204
    Ribosomal_S5; Ribosomal protein S5, N-terminal domain
    pfam03719
    Location:218 → 286
    Ribosomal_S5_C; Ribosomal protein S5, C-terminal domain

  2. NM_001321996.2 → NP_001308925.1  small ribosomal subunit protein uS5m isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), along with variant 4, encodes isoform c.
    Source sequence(s)
    AC092835
    Conserved Domains (3) summary
    COG0098
    Location:26 → 207
    RpsE; Ribosomal protein S5 [Translation, ribosomal structure and biogenesis]
    pfam00333
    Location:52 → 117
    Ribosomal_S5; Ribosomal protein S5, N-terminal domain
    pfam03719
    Location:131 → 199
    Ribosomal_S5_C; Ribosomal protein S5, C-terminal domain

  3. NM_001321997.2 → NP_001308926.1  small ribosomal subunit protein uS5m isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), along with variant 3, encodes isoform c.
    Source sequence(s)
    AC092835
    Conserved Domains (3) summary
    COG0098
    Location:26 → 207
    RpsE; Ribosomal protein S5 [Translation, ribosomal structure and biogenesis]
    pfam00333
    Location:52 → 117
    Ribosomal_S5; Ribosomal protein S5, N-terminal domain
    pfam03719
    Location:131 → 199
    Ribosomal_S5_C; Ribosomal protein S5, C-terminal domain

  4. NM_031902.5 → NP_114108.1  small ribosomal subunit protein uS5m isoform a

    See identical proteins and their annotated locations for NP_114108.1

    Status: REVIEWED

    Source sequence(s)
    AC092835
    Consensus CDS
    CCDS2010.1
    UniProtKB/Swiss-Prot
    P82675, Q4ZFY5, Q96LJ6, Q9BWI4, Q9BYC4
    UniProtKB/TrEMBL
    A0A8Q3WKG3
    Related
    ENSP00000272418.2, ENST00000272418.7
    Conserved Domains (1) summary
    COG0098
    Location:221 → 373
    RpsE; Ribosomal protein S5 [Translation, ribosomal structure and biogenesis]

RNA

  1. NR_136152.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092835
    Related
    ENST00000695437.2

  2. NR_136153.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092835
    Related
    ENST00000345084.11

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    95085369..95122003 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    95591870..95628506 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P82675.2 GenPept UniProtKB/Swiss-Prot:P82675

Gene LinkOut

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