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    MRPL36 mitochondrial ribosomal protein L36 [ Homo sapiens (human) ]

    Gene ID: 64979, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MRPL36provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L36provided by HGNC
    Primary source
    HGNC:HGNC:14490
    See related
    Ensembl:ENSG00000171421 MIM:611842; AllianceGenome:HGNC:14490
    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
    RPMJ; BRIP1; L36mt; bL36m; PRPL36; MRP-L36
    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. A pseudogene corresponding to this gene is found on chromosome 2p. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 15.3), adrenal (RPKM 7.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPL36 in Genome Data Viewer
    Location:
    5p15.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (1798385..1801434, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (1713255..1716322, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (1798499..1799951, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374614 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:1708852-1709007 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1708971-1709534 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1709535-1710099 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1710100-1710663 Neighboring gene microRNA 4277 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1745447-1745946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1751136-1751775 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1768734-1769442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1769443-1770149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1771839-1772338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22310 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22311 Neighboring gene uncharacterized LOC101929003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22314 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:1801330-1802317 Neighboring gene NADH:ubiquinone oxidoreductase subunit S6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1815894-1816405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1817127-1817628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1817629-1818128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1827503-1828018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1828019-1828534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1831287-1831980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1831981-1832674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1833787-1834780 Neighboring gene VISTA enhancer hs2567 Neighboring gene eukaryotic translation initiation factor 3 subunit A Neighboring gene long intergenic non-protein coding RNA 2116

    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. BACH1 is a DNA repair protein supporting BRCA1 damage response. Peng M, et al. Oncogene, 2006 Apr 6. PMID 16462773
    2. Association of LETM1 and MRPL36 contributes to the regulation of mitochondrial ATP production and necrotic cell death. Piao L, et al. Cancer Res, 2009 Apr 15. PMID 19318571
    3. 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
    4. Structural compensation for the deficit of rRNA with proteins in the mammalian mitochondrial ribosome. Systematic analysis of protein components of the large ribosomal subunit from mammalian mitochondria. Suzuki T, et al. J Biol Chem, 2001 Jun 15. PMID 11279069
    5. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. Hu RM, et al. Proc Natl Acad Sci U S A, 2000 Aug 15. PMID 10931946, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    2. MRPL36 contributes to the regulation of mitochondrial ATP production and necrotic cell death.
      Title: Association of LETM1 and MRPL36 contributes to the regulation of mitochondrial ATP production and necrotic cell death.
    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

    • MGC104245

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of ribosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    large ribosomal subunit protein bL36m
    Names
    39S ribosomal protein L36, mitochondrial
    BRCA1-interacting protein 1
    mitochondrial large ribosomal subunit protein bL36m
    putative BRCA1-interacting protein

    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_032479.4 → NP_115868.1  large ribosomal subunit protein bL36m

      See identical proteins and their annotated locations for NP_115868.1

      Status: REVIEWED

      Source sequence(s)
      BC104652, BG185418
      Consensus CDS
      CCDS3865.1
      UniProtKB/Swiss-Prot
      A4UCS0, B2R4Z2, Q3SWV6, Q9P0J6, Q9UKL7
      Related
      ENSP00000423152.1, ENST00000505059.7
      Conserved Domains (1) summary
      pfam00444
      Location:66 → 103
      Ribosomal_L36; Ribosomal protein L36

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      1798385..1801434 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514080.3 → XP_011512382.1  large ribosomal subunit protein bL36m isoform X2

      Conserved Domains (1) summary
      pfam00444
      Location:81 → 118
      Ribosomal_L36; Ribosomal protein L36

    2. XM_017009751.3 → XP_016865240.1  large ribosomal subunit protein bL36m isoform X3

      UniProtKB/Swiss-Prot
      A4UCS0, B2R4Z2, Q3SWV6, Q9P0J6, Q9UKL7
      Conserved Domains (1) summary
      pfam00444
      Location:66 → 103
      Ribosomal_L36; Ribosomal protein L36

    3. XM_017009750.2 → XP_016865239.1  large ribosomal subunit protein bL36m isoform X3

      UniProtKB/Swiss-Prot
      A4UCS0, B2R4Z2, Q3SWV6, Q9P0J6, Q9UKL7
      Related
      ENSP00000372093.6, ENST00000382647.7
      Conserved Domains (1) summary
      pfam00444
      Location:66 → 103
      Ribosomal_L36; Ribosomal protein L36

    4. XM_017009752.2 → XP_016865241.1  large ribosomal subunit protein bL36m isoform X3

      UniProtKB/Swiss-Prot
      A4UCS0, B2R4Z2, Q3SWV6, Q9P0J6, Q9UKL7
      Related
      ENSP00000423399.1, ENST00000508987.1
      Conserved Domains (1) summary
      pfam00444
      Location:66 → 103
      Ribosomal_L36; Ribosomal protein L36

    5. XM_011514079.2 → XP_011512381.1  large ribosomal subunit protein bL36m isoform X1

      Conserved Domains (1) summary
      pfam00444
      Location:132 → 169
      Ribosomal_L36; Ribosomal protein L36

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      1713255..1716322 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353182.1 → XP_054209157.1  large ribosomal subunit protein bL36m isoform X2

    2. XM_054353186.1 → XP_054209161.1  large ribosomal subunit protein bL36m isoform X3

      UniProtKB/Swiss-Prot
      A4UCS0, B2R4Z2, Q3SWV6, Q9P0J6, Q9UKL7

    3. XM_054353184.1 → XP_054209159.1  large ribosomal subunit protein bL36m isoform X3

      UniProtKB/Swiss-Prot
      A4UCS0, B2R4Z2, Q3SWV6, Q9P0J6, Q9UKL7

    4. XM_054353183.1 → XP_054209158.1  large ribosomal subunit protein bL36m isoform X3

      UniProtKB/Swiss-Prot
      A4UCS0, B2R4Z2, Q3SWV6, Q9P0J6, Q9UKL7

    5. XM_054353185.1 → XP_054209160.1  large ribosomal subunit protein bL36m isoform X3

      UniProtKB/Swiss-Prot
      A4UCS0, B2R4Z2, Q3SWV6, Q9P0J6, Q9UKL7

    6. XM_054353181.1 → XP_054209156.1  large ribosomal subunit protein bL36m isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P0J6.1 GenPept UniProtKB/Swiss-Prot:Q9P0J6

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