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 MRPL1 Gene

Aliases for MRPL1 Gene

  • Mitochondrial Ribosomal Protein L1 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein UL1m 3 4
  • 39S Ribosomal Protein L1, Mitochondrial 3 4
  • MRP-L1 3 4
  • BM022 2 3
  • MRPL1 5
  • L1MT 3
  • L1mt 4

External Ids for MRPL1 Gene

Previous GeneCards Identifiers for MRPL1 Gene

  • GC04P078694
  • GC04P078974
  • GC04P079176
  • GC04P079242
  • GC04P079141
  • GC04P079002
  • GC04P074535

Summaries for MRPL1 Gene

Entrez Gene Summary for MRPL1 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 that belongs to the L1 ribosomal protein family. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPL1 Gene

MRPL1 (Mitochondrial Ribosomal Protein L1) is a Protein Coding gene. Among its related pathways are Mitochondrial translation and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

Gene Wiki entry for MRPL1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL1 Gene

Genomics for MRPL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRPL1 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 MRPL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL1

Top Transcription factor binding sites by QIAGEN in the MRPL1 gene promoter:
  • IRF-7A
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B
  • STAT6

Genomic Locations for MRPL1 Gene

Latest Assembly
chr4:77,862,680-77,952,790
(GRCh38/hg38)
Size:
90,111 bases
Orientation:
Plus strand

Previous Assembly
chr4:78,783,984-78,873,939
(GRCh37/hg19 by Entrez Gene)
Size:
89,956 bases
Orientation:
Plus strand

chr4:78,783,674-78,873,944
(GRCh37/hg19 by Ensembl)
Size:
90,271 bases
Orientation:
Plus strand

Genomic View for MRPL1 Gene

Genes around MRPL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL1 Gene

Proteins for MRPL1 Gene

  • Protein details for MRPL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYD6-RM01_HUMAN
    Recommended name:
    39S ribosomal protein L1, mitochondrial
    Protein Accession:
    Q9BYD6
    Secondary Accessions:
    • A6NG03
    • Q4W5B8
    • Q6IAG4
    • Q96BW3
    • Q9H793
    • Q9NRL5

    Protein attributes for MRPL1 Gene

    Size:
    325 amino acids
    Molecular mass:
    36909 Da
    Quaternary structure:
    • Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:11279069). 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).
    SequenceCaution:
    • Sequence=AAF87327.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAF87327.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH14356.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH15109.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH32595.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAY41057.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAB15005.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB40180.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB40180.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for MRPL1 Gene

Post-translational modifications for MRPL1 Gene

  • Ubiquitination at Lys108
  • Modification sites at PhosphoSitePlus

Other Protein References for MRPL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MRPL1 Gene

Domains & Families for MRPL1 Gene

Gene Families for MRPL1 Gene

Protein Domains for MRPL1 Gene

Suggested Antigen Peptide Sequences for MRPL1 Gene

GenScript: Design optimal peptide antigens:
  • MRPL1 protein (A0PJ79_HUMAN)
  • 39S ribosomal protein L1, mitochondrial (RM01_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BYD6

UniProtKB/Swiss-Prot:

RM01_HUMAN :
  • Belongs to the universal ribosomal protein uL1 family.
Family:
  • Belongs to the universal ribosomal protein uL1 family.
genes like me logo Genes that share domains with MRPL1: view

Function for MRPL1 Gene

Phenotypes From GWAS Catalog for MRPL1 Gene

Gene Ontology (GO) - Molecular Function for MRPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA,IBA 21873635
GO:0003735 structural constituent of ribosome IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MRPL1: view

Phenotypes for MRPL1 Gene

GenomeRNAi human phenotypes for MRPL1:
genes like me logo Genes that share phenotypes with MRPL1: view

miRNA for MRPL1 Gene

miRTarBase miRNAs that target MRPL1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL1 Gene

Localization for MRPL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL1 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 MRPL1 gene
Compartment Confidence
mitochondrion 5
cytosol 4
nucleus 2
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MRPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005840 ribosome IEA --
GO:0015934 large ribosomal subunit IEA --
GO:0022625 cytosolic large ribosomal subunit IBA 21873635
genes like me logo Genes that share ontologies with MRPL1: view

Pathways & Interactions for MRPL1 Gene

genes like me logo Genes that share pathways with MRPL1: view

Gene Ontology (GO) - Biological Process for MRPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000470 maturation of LSU-rRNA IBA 21873635
GO:0006412 translation IEA --
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL1: view

No data available for SIGNOR curated interactions for MRPL1 Gene

Drugs & Compounds for MRPL1 Gene

No Compound Related Data Available

Transcripts for MRPL1 Gene

mRNA/cDNA for MRPL1 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL1

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11
SP1: - - -
SP2: -
SP3:
SP4: -
SP5:
SP6: -

Relevant External Links for MRPL1 Gene

GeneLoc Exon Structure for
MRPL1

Expression for MRPL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MRPL1 Gene

This gene is overexpressed in Breast (28.4) and Peripheral blood mononuclear cells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL1 Gene



Protein tissue co-expression partners for MRPL1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL1

SOURCE GeneReport for Unigene cluster for MRPL1 Gene:

Hs.532019

Evidence on tissue expression from TISSUES for MRPL1 Gene

  • Skin(4.3)
  • Bone marrow(4.2)
  • Nervous system(2.8)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with MRPL1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRPL1 Gene

Orthologs for MRPL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MRPL1 29 30
  • 99.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MRPL1 29 30
  • 88.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MRPL1 29 30
  • 87.51 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mrpl1 29 16 30
  • 82.72 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mrpl1 29
  • 80.31 (n)
Oppossum
(Monodelphis domestica)
Mammalia MRPL1 30
  • 69 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MRPL1 30
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MRPL1 29 30
  • 64.06 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MRPL1 30
  • 39 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mrpl1 29
  • 59 (n)
Str.16756 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.25888 29
Zebrafish
(Danio rerio)
Actinopterygii mrpl1 29 30
  • 58.84 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta mRpL1 30
  • 23 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F33D4.5 30
  • 19 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 22 (a)
OneToOne
Species where no ortholog for MRPL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for MRPL1 Gene

ENSEMBL:
Gene Tree for MRPL1 (if available)
TreeFam:
Gene Tree for MRPL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL1: view image
Alliance of Genome Resources:
Additional Orthologs for MRPL1

Paralogs for MRPL1 Gene

No data available for Paralogs for MRPL1 Gene

Variants for MRPL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs17851275 -- p.Thr47Lys
rs17855456 -- p.Phe177Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MRPL1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MRPL1 Gene

Variant ID Type Subtype PubMed ID
dgv9137n54 CNV gain 21841781
esv2752050 CNV gain 17911159
esv3309417 CNV mobile element insertion 20981092
esv3309424 CNV mobile element insertion 20981092
esv3365574 CNV insertion 20981092
nsv1010714 CNV gain 25217958
nsv516836 CNV gain 19592680
nsv7363 OTHER inversion 18451855

Variation tolerance for MRPL1 Gene

Residual Variation Intolerance Score: 33.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.30; 62.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL1
Leiden Open Variation Database (LOVD)
MRPL1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL1 Gene

Disorders for MRPL1 Gene

Additional Disease Information for MRPL1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for MRPL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MRPL1 Gene

Publications for MRPL1 Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. 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

Products for MRPL1 Gene

Sources for MRPL1 Gene