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Aliases for MRPL1 Gene

Aliases for MRPL1 Gene

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

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 Organelle biogenesis and maintenance. GO annotations related to this gene include poly(A) RNA binding and structural constituent of ribosome.

Gene Wiki entry for MRPL1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRPL1 Gene

Genomics for MRPL1 Gene

Regulatory Elements for MRPL1 Gene

Enhancers for MRPL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G076947 1.7 FANTOM5 ENCODE dbSUPER 5.7 -911.7 -911705 5.5 HDGF HNRNPUL1 PKNOX1 CREB3L1 AGO1 SIN3A ARID4B DMAP1 ZNF2 YY1 SOWAHB SEPT11 MRPL1 GC04P076953
GH04G077860 1.4 ENCODE dbSUPER 0.7 +0.5 510 3.9 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC CNOT6L SERBP1P5 MRPL1 ENSG00000250214
GH04G077851 2 FANTOM5 Ensembl ENCODE dbSUPER 0.4 -8.2 -8213 4.0 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 ZBTB7B YY1 ZNF766 CNOT6L HMGB1P44 MRPL1
GH04G077856 1.1 Ensembl ENCODE dbSUPER 0.7 -5.0 -4962 1.2 SAP30 CBX2 KAT8 POLR2H PRDM6 ZNF589 THRAP3 MLLT1 KDM5B RBFOX2 CNOT6L MRPL1
GH04G077858 0.9 dbSUPER 0.7 -2.7 -2669 1.9 HDGF HDAC1 PKNOX1 NFIB FEZF1 TCF12 GATA2 ZSCAN5C ZBTB11 NCOA1 CNOT6L MRPL1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MRPL1 on UCSC Golden Path with GeneCards custom track

Promoters for MRPL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000169655 945 2201 MLX CREB3L1 ZFP64 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21

Genomic Location for MRPL1 Gene

Chromosome:
4
Start:
77,861,955 bp from pter
End:
77,952,790 bp from pter
Size:
90,836 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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAF87327.1; Type=Frameshift; Positions=4, 6, 19, 123, 139, 147; 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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB40180.1; Type=Frameshift; Positions=20; Evidence={ECO:0000305};

neXtProt entry for MRPL1 Gene

Post-translational modifications for MRPL1 Gene

  • Ubiquitination at posLast=108108
  • Modification sites at PhosphoSitePlus

Other Protein References for MRPL1 Gene

No data available for DME Specific Peptides for MRPL1 Gene

Domains & Families for MRPL1 Gene

Gene Families for MRPL1 Gene

Suggested Antigen Peptide Sequences for MRPL1 Gene

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

Gene Ontology (GO) - Molecular Function for MRPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA,IEA 22658674
GO:0003735 structural constituent of ribosome IEA --
GO:0005515 protein binding IPI 25416956
GO:0034513 box H/ACA snoRNA binding IBA --
genes like me logo Genes that share ontologies with MRPL1: view

Animal Model Products

CRISPR Products

miRNA for MRPL1 Gene

miRTarBase miRNAs that target MRPL1

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , 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 4
cytosol 2

Gene Ontology (GO) - Cellular Components for MRPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005840 ribosome IEA --
GO:0015934 large ribosomal subunit IEA --
GO:0022625 NOT cytosolic large ribosomal subunit IBA --
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:0000469 cleavage involved in rRNA processing IBA --
GO:0000470 maturation of LSU-rRNA IBA --
GO:0006412 translation IEA,IBA --
GO:0031118 rRNA pseudouridine synthesis IBA --
GO:0031120 snRNA pseudouridine synthesis IBA --
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

Unigene Clusters for MRPL1 Gene

Mitochondrial ribosomal protein L1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
MRPL1

Expression for MRPL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for MRPL1 Gene



Protein tissue co-expression partners for MRPL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MRPL1 Gene:

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

Primer Products

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 34 35
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia MRPL1 34 35
  • 88.62 (n)
cow
(Bos Taurus)
Mammalia MRPL1 34 35
  • 87.51 (n)
mouse
(Mus musculus)
Mammalia Mrpl1 34 16 35
  • 82.72 (n)
rat
(Rattus norvegicus)
Mammalia Mrpl1 34
  • 80.31 (n)
oppossum
(Monodelphis domestica)
Mammalia MRPL1 35
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MRPL1 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPL1 34 35
  • 64.06 (n)
lizard
(Anolis carolinensis)
Reptilia MRPL1 35
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl1 34
  • 59 (n)
Str.16756 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.25888 34
zebrafish
(Danio rerio)
Actinopterygii mrpl1 34 35
  • 58.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta mRpL1 35
  • 23 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F33D4.5 35
  • 19 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for MRPL1 Gene

No data available for Paralogs for MRPL1 Gene

Variants for MRPL1 Gene

Sequence variations from dbSNP and Humsavar for MRPL1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000020507 -- 77,950,361(+) GAATC(A/G)CTCAA intron-variant
rs1000032632 -- 77,920,518(+) CAGCC(A/G)TAGCT intron-variant
rs1000046904 -- 77,895,739(+) AGAGT(A/T)TTGTT intron-variant
rs1000088843 -- 77,895,493(+) ACACA(C/G)TTTGT intron-variant
rs1000119969 -- 77,895,860(+) TTATA(G/T)TCTTT intron-variant

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)

Relevant External Links for MRPL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL1

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

Disorders for MRPL1 Gene

Relevant External Links for MRPL1

Genetic Association Database (GAD)
MRPL1
Human Genome Epidemiology (HuGE) Navigator
MRPL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MRPL1

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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for MRPL1 Gene

Sources for MRPL1 Gene

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