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    MRPL11 mitochondrial ribosomal protein L11 [ Homo sapiens (human) ]

    Gene ID: 65003, updated on 3-Nov-2024

    Summary

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    Official Symbol
    MRPL11provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L11provided by HGNC
    Primary source
    HGNC:HGNC:14042
    See related
    Ensembl:ENSG00000174547 MIM:611826; AllianceGenome:HGNC:14042
    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
    L11MT; uL11m; CGI-113; MRP-L11
    Summary
    This nuclear gene encodes a 39S subunit component of the mitochondial ribosome. Alternative splicing results in multiple transcript variants. Pseudogenes for this gene are found on chromosomes 5 and 12. [provided by RefSeq, May 2014]
    Expression
    Ubiquitous expression in colon (RPKM 11.1), bone marrow (RPKM 8.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPL11 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66435075..66438848, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66431420..66435193, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66202546..66206319, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66181037-66181555 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66181556-66182074 Neighboring gene neuronal PAS domain protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66185208-66185708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66185709-66186209 Neighboring gene Sharpr-MPRA regulatory region 12876 Neighboring gene small nucleolar RNA SNORA43 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5044 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:66219904-66220097 Neighboring gene chromosome 5 open reading frame 63 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66232341-66232842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66232843-66233342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3594 Neighboring gene pellino E3 ubiquitin protein ligase family member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66243741-66244561 Neighboring gene DPP3 divergent transcript

    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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    Related articles in PubMed

    1. Purification of human mitochondrial ribosomal L7/L12 stalk proteins and reconstitution of functional hybrid ribosomes in Escherichia coli. Han MJ, et al. Protein Expr Purif, 2011 Jul. PMID 21453772
    2. GRSF1 regulates RNA processing in mitochondrial RNA granules. Jourdain AA, et al. Cell Metab, 2013 Mar 5. PMID 23473034, Free PMC Article
    3. FBXO22 degrades nuclear PTEN to promote tumorigenesis. Ge MK, et al. Nat Commun, 2020 Apr 6. PMID 32249768, Free PMC Article
    4. The SWI/SNF chromatin remodeling factor DPF3 regulates metastasis of ccRCC by modulating TGF-β signaling. Cui H, et al. Nat Commun, 2022 Aug 9. PMID 35945219, 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 (106) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Rev rev HIV-1 Rev is identified to have a physical interaction with mitochondrial ribosomal protein L11 (MRPL11) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    nucleocapsid gag HIV-1 NC is identified to have a physical interaction with mitochondrial ribosomal protein L11 (MRPL11) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • MGC111024

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables large ribosomal subunit rRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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
    		  
    involved_in translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 large ribosomal subunit IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of mitochondrial large ribosomal subunit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial large ribosomal subunit NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial ribosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    large ribosomal subunit protein uL11m
    Names
    39S ribosomal protein L11, mitochondrial
    mitochondrial large ribosomal subunit protein uL11m

    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_016050.5 → NP_057134.1  large ribosomal subunit protein uL11m isoform a

      See identical proteins and their annotated locations for NP_057134.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AK290084, AL519939, BU597133, BU678208
      Consensus CDS
      CCDS8139.1
      UniProtKB/Swiss-Prot
      A6NLT0, A8K219, Q32P46, Q96Q73, Q9Y3B7
      UniProtKB/TrEMBL
      Q53G19
      Related
      ENSP00000308897.7, ENST00000310999.11
      Conserved Domains (1) summary
      cd00349
      Location:20 → 155
      Ribosomal_L11; Ribosomal protein L11. Ribosomal protein L11, together with proteins L10 and L7/L12, and 23S rRNA, form the L7/L12 stalk on the surface of the large subunit of the ribosome. The homologous eukaryotic cytoplasmic protein is also called 60S ribosomal ...

    2. NM_170738.4 → NP_733934.1  large ribosomal subunit protein uL11m isoform b

      See identical proteins and their annotated locations for NP_733934.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, which results in an isoform (b) that lacks an internal segment of sequence, compared to isoform a.
      Source sequence(s)
      AP002748
      Consensus CDS
      CCDS44655.1
      UniProtKB/TrEMBL
      Q53G19
      Related
      ENSP00000415356.2, ENST00000430466.6
      Conserved Domains (1) summary
      cd00349
      Location:16 → 129
      Ribosomal_L11; Ribosomal protein L11. Ribosomal protein L11, together with proteins L10 and L7/L12, and 23S rRNA, form the L7/L12 stalk on the surface of the large subunit of the ribosome. The homologous eukaryotic cytoplasmic protein is also called 60S ribosomal ...

    3. NM_170739.4 → NP_733935.1  large ribosomal subunit protein uL11m isoform c

      See identical proteins and their annotated locations for NP_733935.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an additional exon compared to variant 1, which results in a frameshift. It encodes an isoform (c) that is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AK290084, AL519939, BQ020382, BU597133, BU678208
      Consensus CDS
      CCDS8140.1
      UniProtKB/TrEMBL
      Q53G19
      Related
      ENSP00000329630.4, ENST00000329819.4
      Conserved Domains (1) summary
      smart00649
      Location:20 → 156
      RL11; Ribosomal protein L11/L12

    RNA

    1. NR_120588.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AP002748

    2. NR_120589.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site at the 5' terminal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AP002748

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      66435075..66438848 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018135.3 → XP_016873624.1  large ribosomal subunit protein uL11m isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      66431420..66435193 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369669.1 → XP_054225644.1  large ribosomal subunit protein uL11m isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y3B7.1 GenPept UniProtKB/Swiss-Prot:Q9Y3B7

    Gene LinkOut

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

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