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    MRPS11 mitochondrial ribosomal protein S11 [ Homo sapiens (human) ]

    Gene ID: 64963, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MRPS11provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein S11provided by HGNC
    Primary source
    HGNC:HGNC:14050
    See related
    Ensembl:ENSG00000181991 MIM:611977; AllianceGenome:HGNC:14050
    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
    HCC-2; S11mt; uS11m; MRP-S11
    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 contains a high level of sequence similarity with ribosomal protein S11P family members. A pseudogene corresponding to this gene is found on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]
    Expression
    Ubiquitous expression in thyroid (RPKM 4.3), brain (RPKM 3.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPS11 in Genome Data Viewer
    Location:
    15q25.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (88467708..88480776)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (86222020..86235375)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (89010939..89024007)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370959 Neighboring gene VISTA enhancer hs2510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10026 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:89008954-89010153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10027 Neighboring gene mitochondrial ribosomal protein L46 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89027733-89028522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89031074-89031591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89031592-89032108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89034431-89034930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89039910-89040410 Neighboring gene NANOG hESC enhancer GRCh37_chr15:89045662-89046192 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:89047351-89048125 Neighboring gene DET1 partner of COP1 E3 ubiquitin ligase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89081925-89082504 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89084239-89084817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89084818-89085395 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:89085416-89085617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6789 Neighboring gene uncharacterized LOC124903547 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:89090642-89091516 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:89104975-89105595 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89111661-89112160 Neighboring gene long intergenic non-protein coding RNA 1586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89147601-89148307 Neighboring gene apoptosis enhancing nuclease

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Meta-analysis of differentially expressed genes in ankylosing spondylitis. Lee YH, et al. Genet Mol Res, 2015 May 18. PMID 26125709
    2. ZNF143 activates gene expression in response to DNA damage and binds to cisplatin-modified DNA. Ishiguchi H, et al. Int J Cancer, 2004 Oct 10. PMID 15300802
    3. MTERF4 regulates translation by targeting the methyltransferase NSUN4 to the mammalian mitochondrial ribosome. Cámara Y, et al. Cell Metab, 2011 May 4. PMID 21531335
    4. 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
    5. Ribosome. The structure of the human mitochondrial ribosome. Amunts A, et al. Science, 2015 Apr 3. PMID 25838379, Free PMC Article

    See all (72) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The downregulated gene with the largest effect size in ankylosing spondylitis was mitochondrial ribosomal protein S11 (MRPS11). (Meta-analysis)
      Title: Meta-analysis of differentially expressed genes in ankylosing spondylitis.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    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)

    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

    Clone Names

    • FLJ22512, FLJ23406

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of ribosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial translation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 uS11m
    Names
    28S ribosomal protein S11, mitochondrial
    cervical cancer proto-oncogene 2 protein
    mitochondrial small ribosomal subunit protein uS11m

    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_001321970.2 → NP_001308899.1  small ribosomal subunit protein uS11m isoform c

      Status: REVIEWED

      Source sequence(s)
      AC013489, BC012489
      UniProtKB/TrEMBL
      Q53FX9, Q53GJ8
      Conserved Domains (2) summary
      cl00332
      Location:84 → 192
      Ribosomal_S11; Ribosomal protein S11
      cl26081
      Location:29 → 103
      Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

    2. NM_001321972.2 → NP_001308901.1  small ribosomal subunit protein uS11m isoform d

      Status: REVIEWED

      Source sequence(s)
      AC013489, AC142401
      UniProtKB/Swiss-Prot
      P82912
      Conserved Domains (1) summary
      cl00332
      Location:50 → 158
      Ribosomal_S11; Ribosomal protein S11

    3. NM_001321973.2 → NP_001308902.1  small ribosomal subunit protein uS11m isoform e

      Status: REVIEWED

      Source sequence(s)
      AB049944, AC013489, BM966864, CD172722
      UniProtKB/Swiss-Prot
      P82912

    4. NM_001321974.2 → NP_001308903.1  small ribosomal subunit protein uS11m isoform f

      Status: REVIEWED

      Source sequence(s)
      AB049944, AC013489, CD172722
      UniProtKB/Swiss-Prot
      P82912
      Related
      ENST00000560850.1

    5. NM_001321976.2 → NP_001308905.1  small ribosomal subunit protein uS11m isoform g

      Status: REVIEWED

      Source sequence(s)
      AC013489, AC142401, CD172722
      UniProtKB/Swiss-Prot
      P82912

    6. NM_022839.5 → NP_073750.2  small ribosomal subunit protein uS11m isoform a

      See identical proteins and their annotated locations for NP_073750.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the predominant variant and it encodes isoform a.
      Source sequence(s)
      AB049944, AC013489
      Consensus CDS
      CCDS10342.1
      UniProtKB/Swiss-Prot
      B2RD52, P82912, Q969D7, Q96GI3, Q9BYC3
      UniProtKB/TrEMBL
      Q53FX9, Q53GJ8
      Related
      ENSP00000317376.4, ENST00000325844.9
      Conserved Domains (2) summary
      PRK02812
      Location:30 → 104
      PRK02812; ribose-phosphate pyrophosphokinase; Provisional
      cl00332
      Location:85 → 193
      Ribosomal_S11; Ribosomal protein S11

    7. NM_176805.4 → NP_789775.1  small ribosomal subunit protein uS11m isoform b

      See identical proteins and their annotated locations for NP_789775.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame internal segment of coding sequence, compared to variant 1, which causes the predicted protein (isoform b) to be shorter than isoform a. The predicted ORF of this rare transcript has not been experimentally confirmed.
      Source sequence(s)
      AB049944, AC013489, BC009451
      Consensus CDS
      CCDS10343.1
      UniProtKB/TrEMBL
      Q53FX9, Q53GJ8
      Related
      ENSP00000318054.7, ENST00000353598.6
      Conserved Domains (1) summary
      cl00332
      Location:74 → 160
      Ribosomal_S11; Ribosomal protein S11

    RNA

    1. NR_135915.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC013489, DA803430

    2. NR_135917.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AB049944, AC013489, AC142401

    3. NR_135918.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AB049944, AC013489, AC142401, BE621879

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      88467708..88480776
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      86222020..86235375
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378652.1 → XP_054234627.1  small ribosomal subunit protein uS11m isoform X1

      UniProtKB/Swiss-Prot
      B2RD52, P82912, Q969D7, Q96GI3, Q9BYC3
      UniProtKB/TrEMBL
      Q53FX9, Q53GJ8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P82912.2 GenPept UniProtKB/Swiss-Prot:P82912

    Gene LinkOut

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

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