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] See more...

Aliases for MRPL9 Gene

Aliases for MRPL9 Gene

  • Mitochondrial Ribosomal Protein L9 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein BL9m 3 4
  • 39S Ribosomal Protein L9, Mitochondrial 3 4
  • L9mt 3 4
  • MRP-L9 4

External Ids for MRPL9 Gene

Previous GeneCards Identifiers for MRPL9 Gene

  • GC01M149572
  • GC01M147514
  • GC01M148507
  • GC01M148948
  • GC01M148545
  • GC01M149998
  • GC01M151732
  • GC01M123108

Summaries for MRPL9 Gene

Entrez Gene Summary for MRPL9 Gene

  • 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]

GeneCards Summary for MRPL9 Gene

MRPL9 (Mitochondrial Ribosomal Protein L9) is a Protein Coding gene. Diseases associated with MRPL9 include Retinal Microaneurysm. Among its related pathways are Mitochondrial translation and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

Additional gene information for MRPL9 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL9 Gene

Genomics for MRPL9 Gene

GeneHancer (GH) Regulatory Elements for MRPL9 Gene

Promoters and enhancers for MRPL9 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPL9 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL9

Top Transcription factor binding sites by QIAGEN in the MRPL9 gene promoter:
  • CBF(2)
  • FOXO4
  • IRF-7A
  • NF-Y
  • Nkx3-1
  • POU2F1
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2
  • SRY

Genomic Locations for MRPL9 Gene

Genomic Locations for MRPL9 Gene
chr1:151,759,643-151,763,916
(GRCh38/hg38)
Size:
4,274 bases
Orientation:
Minus strand
chr1:151,732,119-151,736,040
(GRCh37/hg19)
Size:
3,922 bases
Orientation:
Minus strand

Genomic View for MRPL9 Gene

Genes around MRPL9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL9 Gene

Proteins for MRPL9 Gene

  • Protein details for MRPL9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYD2-RM09_HUMAN
    Recommended name:
    39S ribosomal protein L9, mitochondrial
    Protein Accession:
    Q9BYD2
    Secondary Accessions:
    • B2RD99
    • Q5SZR2
    • Q9BSW8

    Protein attributes for MRPL9 Gene

    Size:
    267 amino acids
    Molecular mass:
    30243 Da
    Quaternary structure:
    • Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:28892042, PubMed:25838379, PubMed:25278503). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.

    Three dimensional structures from OCA and Proteopedia for MRPL9 Gene

neXtProt entry for MRPL9 Gene

Post-translational modifications for MRPL9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MRPL9 Gene

Domains & Families for MRPL9 Gene

Gene Families for MRPL9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Ribosomal proteins

Protein Domains for MRPL9 Gene

Suggested Antigen Peptide Sequences for MRPL9 Gene

GenScript: Design optimal peptide antigens:
  • 39S ribosomal protein L9, mitochondrial (RM09_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BYD2

UniProtKB/Swiss-Prot:

RM09_HUMAN :
  • Belongs to the bacterial ribosomal protein bL9 family.
Family:
  • Belongs to the bacterial ribosomal protein bL9 family.
genes like me logo Genes that share domains with MRPL9: view

Function for MRPL9 Gene

Phenotypes From GWAS Catalog for MRPL9 Gene

Gene Ontology (GO) - Molecular Function for MRPL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0003735 structural constituent of ribosome NAS,IEA 11543634
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MRPL9: view
genes like me logo Genes that share phenotypes with MRPL9: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL9 Gene

Localization for MRPL9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL9 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MRPL9 gene
Compartment Confidence
mitochondrion 5
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MRPL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005739 mitochondrion IDA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005761 mitochondrial ribosome NAS 11543634
GO:0005762 mitochondrial large ribosomal subunit IDA 25278503
genes like me logo Genes that share ontologies with MRPL9: view

Pathways & Interactions for MRPL9 Gene

genes like me logo Genes that share pathways with MRPL9: view

Gene Ontology (GO) - Biological Process for MRPL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA,NAS 11543634
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL9: view

No data available for SIGNOR curated interactions for MRPL9 Gene

Drugs & Compounds for MRPL9 Gene

No Compound Related Data Available

Transcripts for MRPL9 Gene

mRNA/cDNA for MRPL9 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL9 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - - - -
SP4: - - - -
SP5: - - - - -
SP6: -
SP7:
SP8: - - -
SP9: -

Relevant External Links for MRPL9 Gene

GeneLoc Exon Structure for
MRPL9

Expression for MRPL9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPL9 Gene

Protein differential expression in normal tissues from HIPED for MRPL9 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.4), Lung (8.6), Pancreas (7.7), and Adrenal (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL9 Gene



Protein tissue co-expression partners for MRPL9 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL9

SOURCE GeneReport for Unigene cluster for MRPL9 Gene:

Hs.288936

Evidence on tissue expression from TISSUES for MRPL9 Gene

  • Lung(4.7)
  • Eye(2.7)
  • Nervous system(2.3)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with MRPL9: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRPL9 Gene

Orthologs for MRPL9 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPL9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MRPL9 31 30
  • 99.63 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mrpl9 17 31 30
  • 84.22 (n)
rat
(Rattus norvegicus)
Mammalia mrpl9 30
  • 83.8 (n)
cow
(Bos Taurus)
Mammalia MRPL9 31 30
  • 83.63 (n)
OneToOne
chicken
(Gallus gallus)
Aves MRPL9 31 30
  • 65.56 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRPL9 31
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.20048 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.2544 30
zebrafish
(Danio rerio)
Actinopterygii mrpl9 31 30
  • 59.2 (n)
OneToOne
wufa98b03 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8308 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000950 30
  • 46.5 (n)
fruit fly
(Drosophila melanogaster)
Insecta mRpL9 31 30
  • 45.17 (n)
OneToOne
Species where no ortholog for MRPL9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MRPL9 Gene

ENSEMBL:
Gene Tree for MRPL9 (if available)
TreeFam:
Gene Tree for MRPL9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL9: view image

Paralogs for MRPL9 Gene

Pseudogenes.org Pseudogenes for MRPL9 Gene

genes like me logo Genes that share paralogs with MRPL9: view

No data available for Paralogs for MRPL9 Gene

Variants for MRPL9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL9 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs755031728 Benign: not specified 151,760,903(-) C/CAA INTRON_VARIANT
rs7007 - p.Glu67Gly
rs8480 - p.Glu210Ala

Additional dbSNP identifiers (rs#s) for MRPL9 Gene

Variation tolerance for MRPL9 Gene

Residual Variation Intolerance Score: 87.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.77; 78.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MRPL9 Gene

Disorders for MRPL9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MRPL9 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinal microaneurysm
  • microaneurysm
- elite association - COSMIC cancer census association via MalaCards
Search MRPL9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MRPL9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MRPL9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRPL9 Gene

Publications for MRPL9 Gene

  1. Structures of the human mitochondrial ribosome in native states of assembly. (PMID: 28892042) Brown A … Ramakrishnan V (Nature structural & molecular biology 2017) 3 4 54
  2. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4 54
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  4. Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes. (PMID: 20532202) Naukkarinen J … ENGAGE Consortium (PLoS genetics 2010) 3 41 54
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54

Products for MRPL9 Gene

Sources for MRPL9 Gene