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MRPL9 mitochondrial ribosomal protein L9 [ Homo sapiens (human) ]

Gene ID: 65005, updated on 5-Mar-2024

Summary

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Official Symbol
MRPL9provided by HGNC
Official Full Name
mitochondrial ribosomal protein L9provided by HGNC
Primary source
HGNC:HGNC:14277
See related
Ensembl:ENSG00000143436 MIM:611824; AllianceGenome:HGNC:14277
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
L9mt; bL9m
Summary
This is a nuclear gene encoding a protein component of the 39S subunit of the mitochondrial ribosome. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Jul 2014]
Expression
Ubiquitous expression in bone marrow (RPKM 15.0), lymph node (RPKM 13.3) and 25 other tissues See more
Orthologs
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Genomic context

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See MRPL9 in Genome Data Viewer
Location:
1q21.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151759647..151763496, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150883033..150886885, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151732123..151735972, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 662, pseudogene Neighboring gene ribosomal protein S11 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1724 Neighboring gene ornithine decarboxylase antizyme 3 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:151741546-151742242 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:151742243-151742937 Neighboring gene tudor and KH domain containing Neighboring gene chloride nucleotide-sensitive channel 1A pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1326 Neighboring gene TDRKH antisense RNA 1

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. Interaction of MRPL9 and GGCT Promotes Cell Proliferation and Migration by Activating the MAPK/ERK Pathway in Papillary Thyroid Cancer. Zhang HM, et al. Int J Mol Sci, 2022 Oct 9. PMID 36233293, Free PMC Article
  2. Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes. Naukkarinen J, et al. PLoS Genet, 2010 Jun 3. PMID 20532202, Free PMC Article
  3. 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
  4. 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
  5. 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

See all (58) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of a novel therapeutic target for lung cancer: Mitochondrial ribosome protein L9.
    Title: Identification of a novel therapeutic target for lung cancer: Mitochondrial ribosome protein L9.
  2. Interaction of MRPL9 and GGCT Promotes Cell Proliferation and Migration by Activating the MAPK/ERK Pathway in Papillary Thyroid Cancer.
    Title: Interaction of MRPL9 and GGCT Promotes Cell Proliferation and Migration by Activating the MAPK/ERK Pathway in Papillary Thyroid Cancer.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes.
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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural constituent of ribosome NAS
Non-traceable Author Statement
more info
 PubMed 
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 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 NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
large ribosomal subunit protein bL9m
Names
39S ribosomal protein L9, mitochondrial
mitochondrial large ribosomal subunit protein bL9m

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_001300733.2 → NP_001287662.1  large ribosomal subunit protein bL9m isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AW452832, BC004517, CF127136
    Consensus CDS
    CCDS72916.1
    UniProtKB/TrEMBL
    Q5SZR1
    Related
    ENSP00000357822.3, ENST00000368829.3
    Conserved Domains (1) summary
    pfam01281
    Location:95 → 140
    Ribosomal_L9_N; Ribosomal protein L9, N-terminal domain

  2. NM_031420.4 → NP_113608.1  large ribosomal subunit protein bL9m isoform 1

    See identical proteins and their annotated locations for NP_113608.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AW452832, BC004517
    Consensus CDS
    CCDS1003.1
    UniProtKB/Swiss-Prot
    B2RD99, Q5SZR2, Q9BSW8, Q9BYD2
    Related
    ENSP00000357823.3, ENST00000368830.8
    Conserved Domains (2) summary
    PRK00137
    Location:95 → 225
    rplI; 50S ribosomal protein L9; Reviewed
    pfam01281
    Location:95 → 140
    Ribosomal_L9_N; Ribosomal protein L9, N-terminal domain

RNA

  1. NR_125331.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5' most expected start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK026363, BC004517
    Related
    ENST00000467306.5

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    151759647..151763496 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_921910.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    150883033..150886885 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_008486151.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BYD2.2 GenPept UniProtKB/Swiss-Prot:Q9BYD2

Gene LinkOut

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

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