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

Gene ID: 740, updated on 9-Feb-2020

Summary

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
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; 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

Genomic context

See MRPL49 in Genome Data Viewer
Location:
11q13.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (65122183..65127371)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64889655..64894841)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3974 Neighboring gene zinc finger HIT-type containing 2 Neighboring gene FAU ubiquitin like and ribosomal protein S30 fusion Neighboring gene synoviolin 1 Neighboring gene microRNA 6751 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 10

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC10656

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of ribosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
mitochondrial translational elongation TAS
Traceable Author Statement
more info
 
mitochondrial translational termination TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial large ribosomal subunit IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial large ribosomal subunit IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial ribosome IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
39S ribosomal protein L49, mitochondrial
Names
mitochondrial large ribosomal subunit protein mL49
neighbor of FAU
next to FAU

NCBI Reference Sequences (RefSeq)

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_004927.4NP_004918.1  39S ribosomal protein L49, mitochondrial

    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
    Q13405
    UniProtKB/TrEMBL
    A0A024R578
    Related
    ENSP00000279242.2, ENST00000279242.7
    Conserved Domains (1) summary
    pfam05046
    Location:84164
    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: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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