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    MRPL49 mitochondrial ribosomal protein L49 [ Homo sapiens (human) ]

    Gene ID: 740, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MRPL49provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L49provided by HGNC
    Primary source
    HGNC:HGNC:1176
    See related
    Ensembl:ENSG00000149792 MIM:606866; AllianceGenome:HGNC:1176
    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
    NOF; NOF1; mL49; L49mt; C11orf4; MRP-L49
    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. Pseudogenes corresponding to this gene are found on chromosomes 5q and 8p. [provided by RefSeq, May 2011]
    Expression
    Ubiquitous expression in adrenal (RPKM 32.4), kidney (RPKM 30.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPL49 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65122183..65127371)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65115462..65120650)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64889655..64894843)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64883502-64884046 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64884593-64885136 Neighboring gene Sharpr-MPRA regulatory region 3974 Neighboring gene zinc finger HIT-type containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4944 Neighboring gene FAU ubiquitin like and ribosomal protein S30 fusion Neighboring gene synoviolin 1 Neighboring gene microRNA 6751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4945 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64900593-64900769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4946 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64901729-64902632 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 10

    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. Isolation, cDNA, and genomic structure of a conserved gene (NOF) at chromosome 11q13 next to FAU and oriented in the opposite transcriptional orientation. Kas K, et al. Genomics, 1996 Jun 15. PMID 8786148
    2. Properties of the C-terminal tail of human mitochondrial inner membrane protein Oxa1L and its interactions with mammalian mitochondrial ribosomes. Haque ME, et al. J Biol Chem, 2010 Sep 3. PMID 20601428, Free PMC Article
    3. Myristoylated alanine-rich C-kinase substrate effector domain phosphorylation regulates the growth and radiation sensitization of glioblastoma. Eustace NJ, et al. Int J Oncol, 2019 Jun. PMID 30942445, Free PMC Article
    4. The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. Koc EC, et al. J Biol Chem, 2001 Nov 23. PMID 11551941
    5. Mammalian BCAS3 and C16orf70 associate with the phagophore assembly site in response to selective and non-selective autophagy. Kojima W, et al. Autophagy, 2021 Aug. PMID 33499712, Free PMC Article

    See all (72) 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.
    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

    • MGC10656

    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 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 
    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 IDA
    Inferred from Direct Assay
    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 mL49
    Names
    39S ribosomal protein L49, mitochondrial
    mitochondrial large ribosomal subunit protein mL49
    neighbor of FAU
    next to FAU

    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_004927.4 → NP_004918.1  large ribosomal subunit protein mL49

      See identical proteins and their annotated locations for NP_004918.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the predominant transcript and it encodes the functional protein.
      Source sequence(s)
      AP003068, BC004378, BG250495
      Consensus CDS
      CCDS8096.1
      UniProtKB/Swiss-Prot
      B2R4G6, Q13405
      Related
      ENSP00000279242.2, ENST00000279242.7
      Conserved Domains (1) summary
      pfam05046
      Location:84 → 166
      Img2; Mitochondrial large subunit ribosomal protein (Img2)

    RNA

    1. NR_037567.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses a different splice site in the 5' end, compared to variant 1. This variant is represented as non-coding because it lacks the translational start codon, found in variant 1, and the remaining ORFs are not large enough to produce a protein of comparable length to the functional protein.
      Source sequence(s)
      AP003068, BC004378, DA484303
      Related
      ENST00000524482.5

    2. NR_037568.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal alternate exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, would encode a much smaller protein compared to the functional protein.
      Source sequence(s)
      AP003068, BC004378, DA162786

    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
      65122183..65127371
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      65115462..65120650
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13405.1 GenPept UniProtKB/Swiss-Prot:Q13405

    Gene LinkOut

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

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