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 3
  • 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. Diseases associated with MRPL1 include Brain Cancer. 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

Additional gene information 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 for MRPL1 Gene

Promoters and enhancers for MRPL1 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
GH04J077860 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.5 510 3.9 RXRA EP300 FOXK2 ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A TCF12 MYC MRPL1 lnc-CNOT6L-4 CNOT6L SERBP1P5
GH04J076947 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.7 -911.8 -911754 6 FOXK2 HNRNPK ZNF217 CTCF SIN3A NRF1 POLR2G SP1 BCLAF1 JUND SEPTIN11 LOC105377294 lnc-SOWAHB-5 CNOT6L NUP54 SDAD1 SOWAHB MRPL1 TXNP6
GH04J077851 Enhancer 1 FANTOM5 ENCODE dbSUPER 0.4 -8.2 -8212 4 NR2F2 ELF1 FOS TBP GATA2 POLR2A ZNF133 CREM RUNX3 STAT3 CNOT6L HMGB1P44 MRPL1 lnc-MRPL1-3
GH04J077880 Enhancer 1 Ensembl ENCODE 0.4 +19.7 19746 3 ZNF217 CTCF FOXA1 TEAD1 CTBP1 FOXA2 ZNF316 MAFF FOS RAD21 CNOT6L FRAS1 HMGB1P44 ENSG00000250214 lnc-CNOT6L-2 MRPL1 piR-61157-036
GH04J077858 Enhancer 0.5 dbSUPER 0.7 -2.7 -2668 1.9 CTCF NFIC BCL6 NFIB NFIA LCORL BCL6B CNOT6L MRPL1 lnc-MRPL1-3
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for MRPL1 Gene
chr4:77,861,955-77,952,790
(GRCh38/hg38)
Size:
90,836 bases
Orientation:
Plus strand
chr4:78,783,674-78,873,944
(GRCh37/hg19)
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

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

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 IBA,IEA 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

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

Animal Model Products

CRISPR Products

miRNA for MRPL1 Gene

miRTarBase miRNAs that target MRPL1

Inhibitory RNA Products

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

Clone Products

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
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 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 IDA,IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005840 ribosome IEA --
GO:0015934 large ribosomal subunit IEA --
GO:0030686 90S preribosome 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 :

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

  • Bone marrow(4.2)
  • Skin(4.2)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with MRPL1: view

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 31 30
  • 99.69 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MRPL1 31 30
  • 88.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MRPL1 31 30
  • 87.51 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mrpl1 17 31 30
  • 82.72 (n)
rat
(Rattus norvegicus)
Mammalia Mrpl1 30
  • 80.31 (n)
oppossum
(Monodelphis domestica)
Mammalia MRPL1 31
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MRPL1 31
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPL1 31 30
  • 64.06 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRPL1 31
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl1 30
  • 59 (n)
Str.16756 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.25888 30
zebrafish
(Danio rerio)
Actinopterygii mrpl1 31 30
  • 58.84 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mRpL1 31
  • 23 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F33D4.5 31
  • 19 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 22 (a)
OneToOne
Species where no ortholog for MRPL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

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

Additional dbSNP identifiers (rs#s) for MRPL1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MRPL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MRPL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
brain cancer
  • adult brain tumor
- elite association - COSMIC cancer census association via MalaCards
Search MRPL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MRPL1

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 MRPL1: view

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

Publications for MRPL1 Gene

  1. 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 41 54
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 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 MRPL1 Gene

Sources for MRPL1 Gene