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MRPL18 mitochondrial ribosomal protein L18 [ Homo sapiens (human) ]

Gene ID: 29074, updated on 3-May-2020

Summary

Official Symbol
MRPL18provided by HGNC
Official Full Name
mitochondrial ribosomal protein L18provided by HGNC
Primary source
HGNC:HGNC:14477
See related
Ensembl:ENSG00000112110 MIM:611831
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
L18mt; HSPC071; MRP-L18
Summary
This nuclear gene encodes a protein component of the larger 39S subunit of mitochondrial ribosome. This protein may also aid in the import of nuclear-encoded 5S rRNA into mitochondria. Alternative splicing results in multiple transcript variants, most of which are not predicted to encode a protein. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Jan 2016]
Expression
Ubiquitous expression in testis (RPKM 18.5), colon (RPKM 17.9) and 25 other tissues See more
Orthologs

Genomic context

See MRPL18 in Genome Data Viewer
Location:
6q25.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (159789812..159798429)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (160211492..160219461)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, H/ACA box 20 Neighboring gene t-complex 1 Neighboring gene small nucleolar RNA, H/ACA box 29 Neighboring gene PARN like, ribonuclease domain containing 1 Neighboring gene MAS1 proto-oncogene, G protein-coupled receptor

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
5S rRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
5S rRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of ribosome NAS
Non-traceable Author Statement
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
 
rRNA import into mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
translation NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular space HDA PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial large ribosomal subunit IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial ribosome NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
39S ribosomal protein L18, mitochondrial
Names
mitochondrial large ribosomal subunit protein uL18m

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_001318817.1NP_001305746.1  39S ribosomal protein L18, mitochondrial isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a shorter, distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL135914, BC001623, BG548185
    UniProtKB/Swiss-Prot
    Q9H0U6
    Conserved Domains (1) summary
    cd00432
    Location:68109
    Ribosomal_L18_L5e; Ribosomal L18/L5e: L18 (L5e) is a ribosomal protein found in the central protuberance (CP) of the large subunit. L18 binds 5S rRNA and induces a conformational change that stimulates the binding of L5 to 5S rRNA. Association of 5S rRNA with 23S rRNA ...
  2. NM_014161.5NP_054880.2  39S ribosomal protein L18, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_054880.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AF161556, BC001623, BU932963
    Consensus CDS
    CCDS5270.1
    UniProtKB/Swiss-Prot
    Q9H0U6
    Related
    ENSP00000356001.4, ENST00000367034.5
    Conserved Domains (1) summary
    cd00432
    Location:68170
    Ribosomal_L18_L5e; Ribosomal L18/L5e: L18 (L5e) is a ribosomal protein found in the central protuberance (CP) of the large subunit. L18 binds 5S rRNA and induces a conformational change that stimulates the binding of L5 to 5S rRNA. Association of 5S rRNA with 23S rRNA ...

RNA

  1. NR_134860.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon and contains two alternate exons in the 5' region compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AK311391, AL135914, BC001623, BU943173
  2. NR_134861.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' terminal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    BC001623, BM924328
    Related
    ENST00000480842.1
  3. NR_134862.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate 5' terminal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    BC001623, BU601065, BU943173
  4. NR_134863.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate 5' terminal exon and uses an alternate splice site in the 5' region compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    BC001623, BU943173, CD675657
  5. NR_134864.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) contains an alternate 5' terminal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    BC001623, BF797811
    Related
    ENST00000476826.5
  6. NR_134865.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) contains an alternate 5' terminal exon and uses an alternate splice site in the 3' region compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AV756740, BC001623, BU943173, CA777760
  7. NR_134866.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) contains an alternate 5' terminal exon and uses an alternate splice site in the 3' region compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    BC001623, BU943173, CA777760

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    159789812..159798429
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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