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    MRPL27 mitochondrial ribosomal protein L27 [ Homo sapiens (human) ]

    Gene ID: 51264, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MRPL27provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L27provided by HGNC
    Primary source
    HGNC:HGNC:14483
    See related
    Ensembl:ENSG00000108826 MIM:611837; AllianceGenome:HGNC:14483
    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
    L27mt; bL27m
    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 39S subunit protein. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in colon (RPKM 30.2), kidney (RPKM 28.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPL27 in Genome Data Viewer
    Location:
    17q21.33
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (50367867..50373184, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (51234852..51240169, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48445228..48450545, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8693 Neighboring gene TMEM92 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr17:48380397-48381379 Neighboring gene NANOG hESC enhancer GRCh37_chr17:48388769-48389287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12381 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:48395384-48395963 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48395964-48396542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8695 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8696 Neighboring gene Sharpr-MPRA regulatory region 10047 Neighboring gene xylosyltransferase 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:48448134-48448295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12383 Neighboring gene essential meiotic structure-specific endonuclease 1 Neighboring gene leucine rich repeat containing 59 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8697 Neighboring gene Sharpr-MPRA regulatory region 13074 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48503111-48503655 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:48508611-48509306 Neighboring gene acyl-CoA synthetase family member 2 Neighboring gene mitochondrial ribosomal protein S21 pseudogene 9

    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. MRPL27 contributes to unfavorable overall survival and disease-free survival from cholangiocarcinoma patients.
      Title: MRPL27 contributes to unfavorable overall survival and disease-free survival from cholangiocarcinoma patients.
    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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    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)

    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

    • MGC23716

    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 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 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 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 bL27m
    Names
    39S ribosomal protein L27, mitochondrial
    MRP-L27
    mitochondrial large ribosomal subunit protein bL27m

    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_016504.3 → NP_057588.1  large ribosomal subunit protein bL27m

      See identical proteins and their annotated locations for NP_057588.1

      Status: REVIEWED

      Source sequence(s)
      AF151084
      Consensus CDS
      CCDS11564.1
      UniProtKB/Swiss-Prot
      B2RE14, Q9P0M9
      UniProtKB/TrEMBL
      H7C5U8
      Related
      ENSP00000225969.4, ENST00000225969.9
      Conserved Domains (1) summary
      pfam01016
      Location:31 → 101
      Ribosomal_L27; Ribosomal L27 protein

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      50367867..50373184 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      51234852..51240169 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_148570.1: Suppressed sequence

      Description
      NM_148570.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    2. NM_148571.1: Suppressed sequence

      Description
      NM_148571.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P0M9.1 GenPept UniProtKB/Swiss-Prot:Q9P0M9

    Gene LinkOut

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

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