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

    Gene ID: 64969, updated on 3-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (95085369..95122003, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (95591870..95628506, complement)
    RS_2024_09 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 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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    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 HTP 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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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