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

Gene ID: 740, updated on 5-Mar-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
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Genomic context

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Location:
11q13.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65122183..65127371)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65115462..65120650)
105.20220307 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 (67) 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)

Genotypes

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 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_2023_10

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

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