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... See more...

Aliases for MRPL13 Gene

Aliases for MRPL13 Gene

  • Mitochondrial Ribosomal Protein L13 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein UL13m 3 4
  • 39S Ribosomal Protein L13, Mitochondrial 3 4
  • MRP-L13 3 4
  • L13mt 3 4
  • RPML13 3
  • RPL13 3
  • L13A 3
  • L13 3

External Ids for MRPL13 Gene

Previous GeneCards Identifiers for MRPL13 Gene

  • GC08M121466
  • GC08M121076
  • GC08M121364
  • GC08M121477
  • GC08M116728
  • GC08M121393

Summaries for MRPL13 Gene

Entrez Gene Summary for MRPL13 Gene

  • 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. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPL13 Gene

MRPL13 (Mitochondrial Ribosomal Protein L13) is a Protein Coding gene. Diseases associated with MRPL13 include Retinitis Pigmentosa 22. Among its related pathways are Mitochondrial translation and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome. An important paralog of this gene is RPL13A.

Additional gene information for MRPL13 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 MRPL13 Gene

Genomics for MRPL13 Gene

GeneHancer (GH) Regulatory Elements for MRPL13 Gene

Promoters and enhancers for MRPL13 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J120443 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 501.9 +0.0 6 3.6 EP300 ZBTB40 ZNF217 SIN3A TCF12 POLR2G SP1 NCOR1 GTF2E2 PHF8 MTBP MRPL13 lnc-SNTB1-1 SNTB1
GH08J120932 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 10.2 -487.9 -487929 2.2 ZNF341 REST SAP130 GABPB1 FOS ZGPAT FOXP2 FOSL2 HOMEZ TAF1 MRPL13 MTBP SNTB1 HAS2-AS1 ENSG00000253619 lnc-SNTB1-3
GH08J119862 Promoter 0.8 Ensembl 10 +582.2 582206 1.2 CTCF RAD21 CEBPB SMC3 ZNF384 CEBPG FOSL2 PRDM1 ZNF654 HNF4A RF00017-7276 RN7SL396P lnc-DEPTOR-2 piR-45120-006 DSCC1 TAF2 COL14A1 MRPL13 MTBP DEPTOR
GH08J120597 Enhancer 0.7 Ensembl ENCODE 10.9 -152.8 -152838 1.5 JUND FOS ZNF316 MAFF MAFK RBM22 MAFG AGO2 ARID3A STAT3 MRPL13 MTBP RF00017-7287 piR-50443-370 RF00017-7286 SNTB1
GH08J120419 Enhancer 0.7 Ensembl 11.1 +25.4 25406 0.4 ZNF510 ZNF491 NFIC ZNF184 KLF13 PBX2 ZNF843 ZNF830 NFIB PRDM6 TAF2 MRPL13 MTBP lnc-SNTB1-1 piR-38351-473
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPL13 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL13

Top Transcription factor binding sites by QIAGEN in the MRPL13 gene promoter:
  • FOXL1
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Nkx2-5
  • p53
  • Spz1
  • STAT3

Genomic Locations for MRPL13 Gene

Genomic Locations for MRPL13 Gene
chr8:120,380,761-120,445,407
(GRCh38/hg38)
Size:
64,647 bases
Orientation:
Minus strand
chr8:121,393,000-121,457,647
(GRCh37/hg19)
Size:
64,648 bases
Orientation:
Minus strand

Genomic View for MRPL13 Gene

Genes around MRPL13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL13 Gene

Proteins for MRPL13 Gene

  • Protein details for MRPL13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYD1-RM13_HUMAN
    Recommended name:
    39S ribosomal protein L13, mitochondrial
    Protein Accession:
    Q9BYD1
    Secondary Accessions:
    • B2R4R8
    • Q9UI04

    Protein attributes for MRPL13 Gene

    Size:
    178 amino acids
    Molecular mass:
    20692 Da
    Quaternary structure:
    • Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:25278503, PubMed:25838379, PubMed:28892042). 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 (PubMed:25278503, PubMed:25838379). Interacts with OXA1L (By similarity).
    SequenceCaution:
    • Sequence=AAF17202.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MRPL13 Gene

neXtProt entry for MRPL13 Gene

Post-translational modifications for MRPL13 Gene

  • Ubiquitination at Lys114
  • Modification sites at PhosphoSitePlus

Other Protein References for MRPL13 Gene

No data available for DME Specific Peptides for MRPL13 Gene

Domains & Families for MRPL13 Gene

Gene Families for MRPL13 Gene

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

Protein Domains for MRPL13 Gene

Blocks:
  • Ribosomal protein L13
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MRPL13 Gene

GenScript: Design optimal peptide antigens:
  • 39S ribosomal protein L13, mitochondrial (RM13_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BYD1

UniProtKB/Swiss-Prot:

RM13_HUMAN :
  • Belongs to the universal ribosomal protein uL13 family.
Family:
  • Belongs to the universal ribosomal protein uL13 family.
genes like me logo Genes that share domains with MRPL13: view

Function for MRPL13 Gene

Phenotypes From GWAS Catalog for MRPL13 Gene

Gene Ontology (GO) - Molecular Function for MRPL13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003729 mRNA binding IBA 21873635
GO:0003735 structural constituent of ribosome NAS,IEA 11279069
GO:0005515 protein binding IPI 20601428
genes like me logo Genes that share ontologies with MRPL13: view
genes like me logo Genes that share phenotypes with MRPL13: view

Animal Model Products

CRISPR Products

miRNA for MRPL13 Gene

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL13 Gene

Localization for MRPL13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL13 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 MRPL13 gene
Compartment Confidence
mitochondrion 5
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MRPL13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005761 mitochondrial ribosome IDA,IEA 20601428
GO:0005762 mitochondrial large ribosomal subunit NAS,IBA 11279069
GO:0005840 ribosome IEA,IBA 21873635
genes like me logo Genes that share ontologies with MRPL13: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MRPL13 Gene

Pathways & Interactions for MRPL13 Gene

genes like me logo Genes that share pathways with MRPL13: view

Gene Ontology (GO) - Biological Process for MRPL13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA,NAS 11279069
GO:0017148 negative regulation of translation IBA 21873635
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL13: view

No data available for SIGNOR curated interactions for MRPL13 Gene

Drugs & Compounds for MRPL13 Gene

No Compound Related Data Available

Transcripts for MRPL13 Gene

mRNA/cDNA for MRPL13 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 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 MRPL13 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7
SP1: -
SP2: -

Relevant External Links for MRPL13 Gene

GeneLoc Exon Structure for
MRPL13

Expression for MRPL13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPL13 Gene

Protein differential expression in normal tissues from HIPED for MRPL13 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.7), Breast (11.0), Cervix (10.6), and Pancreas (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL13 Gene



Protein tissue co-expression partners for MRPL13 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL13

SOURCE GeneReport for Unigene cluster for MRPL13 Gene:

Hs.333823

Evidence on tissue expression from TISSUES for MRPL13 Gene

  • Nervous system(4.4)
  • Adrenal gland(4.3)
  • Liver(2)
  • Lung(2)
genes like me logo Genes that share expression patterns with MRPL13: 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 MRPL13 Gene

Orthologs for MRPL13 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MRPL13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MRPL13 31 30
  • 99.25 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MRPL13 31
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MRPL13 31 30
  • 90.45 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MRPL13 31 30
  • 88.95 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mrpl13 17 31 30
  • 87.08 (n)
rat
(Rattus norvegicus)
Mammalia Mrpl13 30
  • 86.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MRPL13 31
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPL13 31 30
  • 73.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRPL13 31
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl13 30
  • 68.94 (n)
Str.13427 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.33171 30
zebrafish
(Danio rerio)
Actinopterygii mrpl13 31 30
  • 70.22 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8416 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009908 30
  • 53.53 (n)
fruit fly
(Drosophila melanogaster)
Insecta mRpL13 31 32 30
  • 51.14 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mrpl-13 31 30
  • 52.78 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D02508g 30
  • 49.86 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRPL23 33 31 30
  • 47.32 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR403W 30
  • 46.43 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons emb1473 30
  • 48.95 (n)
rice
(Oryza sativa)
Liliopsida Os01g0749200 30
  • 51.44 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mrpl23 30
  • 48.06 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07852 30
  • 40.91 (n)
Species where no ortholog for MRPL13 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MRPL13 Gene

ENSEMBL:
Gene Tree for MRPL13 (if available)
TreeFam:
Gene Tree for MRPL13 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL13: view image

Paralogs for MRPL13 Gene

Paralogs for MRPL13 Gene

genes like me logo Genes that share paralogs with MRPL13: view

Variants for MRPL13 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL13 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
787333 Benign: not provided 120,443,315(-) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for MRPL13 Gene

Structural Variations from Database of Genomic Variants (DGV) for MRPL13 Gene

Variant ID Type Subtype PubMed ID
esv996748 CNV deletion 20482838
nsv470235 CNV loss 18288195

Variation tolerance for MRPL13 Gene

Residual Variation Intolerance Score: 52.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.98; 20.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL13 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL13 Gene

Disorders for MRPL13 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MRPL13 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 22
  • rp22
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MRPL13

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 MRPL13: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRPL13 Gene

Publications for MRPL13 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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for MRPL13 Gene

Sources for MRPL13 Gene