Human Gene MRPL1 (uc003hku.2) Description and Page Index
  Description: Homo sapiens mitochondrial ribosomal protein L1 (MRPL1), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_020236): 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]. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.333808.1, SRR5189658.80789.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000315567.13/ ENSP00000315017.8 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr4:78,783,805-78,873,944 Size: 90,140 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr4:78,784,003-78,873,761 Size: 89,759 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr4:78,783,805-78,873,944)mRNA (may differ from genome)Protein (325 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=39S ribosomal protein L1, mitochondrial; Short=L1mt; Short=MRP-L1; Flags: Precursor;
SIMILARITY: Belongs to the ribosomal protein L1P family.
SEQUENCE CAUTION: Sequence=AAF87327.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAF87327.1; Type=Frameshift; Positions=4, 6, 19, 123, 139, 147; Sequence=AAH14356.1; Type=Erroneous initiation; Sequence=AAH15109.1; Type=Erroneous initiation; Sequence=AAH32595.1; Type=Erroneous initiation; Sequence=AAY41057.1; Type=Erroneous gene model prediction; Sequence=BAB15005.1; Type=Erroneous initiation; Sequence=BAB40180.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB40180.1; Type=Frameshift; Positions=20;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MRPL1
CDC HuGE Published Literature: MRPL1
Positive Disease Associations: Body Fat Distribution , Body Mass Index , Body Weight , Hypertension , Waist Circumference
Related Studies:
  1. Body Fat Distribution
    , , . [PubMed 0]
  2. Body Mass Index
    , , . [PubMed 0]
  3. Body Weight
    , , . [PubMed 0]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.25 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 376.29 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -44.60198-0.225 Picture PostScript Text
3' UTR -31.54183-0.172 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016094 - Ribosomal_L1_2-a/b-sand
IPR016095 - Ribosomal_L1_3-a/b-sand
IPR024663 - Ribosomal_L1_chr
IPR005879 - Ribosomal_L1_mit
IPR023674 - Ribosomal_L1_SF

Pfam Domains:
PF00687 - Ribosomal protein L1p/L10e family

SCOP Domains:
56808 - Ribosomal protein L1

ModBase Predicted Comparative 3D Structure on Q9BYD6
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
   Gene DetailsGene Details 
   Gene SorterGene Sorter 
  Protein SequenceProtein SequenceProtein Sequence 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003735 structural constituent of ribosome
GO:0005515 protein binding
GO:0034513 box H/ACA snoRNA binding

Biological Process:
GO:0000469 cleavage involved in rRNA processing
GO:0000470 maturation of LSU-rRNA
GO:0006412 translation
GO:0031118 rRNA pseudouridine synthesis
GO:0031120 snRNA pseudouridine synthesis
GO:0070125 mitochondrial translational elongation
GO:0070126 mitochondrial translational termination

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005840 ribosome
GO:0015934 large ribosomal subunit
GO:0031429 box H/ACA snoRNP complex
GO:0022625 cytosolic large ribosomal subunit

-  Descriptions from all associated GenBank mRNAs
  HQ447344 - Synthetic construct Homo sapiens clone IMAGE:100070665; CCSB007386_01 mitochondrial ribosomal protein L1 (MRPL1) gene, encodes complete protein.
KJ903113 - Synthetic construct Homo sapiens clone ccsbBroadEn_12507 MRPL1 gene, encodes complete protein.
KJ904857 - Synthetic construct Homo sapiens clone ccsbBroadEn_14251 MRPL1 gene, encodes complete protein.
AF212225 - Homo sapiens BM022 mRNA, complete cds.
JD224849 - Sequence 205873 from Patent EP1572962.
BC017765 - Homo sapiens mitochondrial ribosomal protein L1, mRNA (cDNA clone IMAGE:4284885), partial cds.
BC014356 - Homo sapiens mitochondrial ribosomal protein L1, mRNA (cDNA clone MGC:24210 IMAGE:3686618), complete cds.
AK315600 - Homo sapiens cDNA, FLJ96680.
BC015109 - Homo sapiens mitochondrial ribosomal protein L1, mRNA (cDNA clone MGC:22872 IMAGE:4044993), complete cds.
BC032595 - Homo sapiens mitochondrial ribosomal protein L1, mRNA (cDNA clone MGC:45037 IMAGE:5527878), complete cds.
AB049474 - Homo sapiens MRPL1 mRNA for mitochondrial ribosomal protein L1 (L1mt), complete cds.
CU677215 - Synthetic construct Homo sapiens gateway clone IMAGE:100018782 5' read MRPL1 mRNA.
CR457191 - Homo sapiens full open reading frame cDNA clone RZPDo834D1212D for gene MRPL1, mitochondrial ribosomal protein L1; complete cds, incl. stopcodon.
AK024791 - Homo sapiens cDNA: FLJ21138 fis, clone CAS07525.
JD236715 - Sequence 217739 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9BYD6 (Reactome details) participates in the following event(s):

R-HSA-5389839 39S subunit binds 28S subunit:mRNA:fMet-tRNA
R-HSA-5419273 Hydrolysis of GTP and dissociation of 28S and 39S subunits
R-HSA-5389848 TUFM:GTP:aminoacyl-tRNA binds 55S ribosome:mRNA:fMet-tRNA
R-HSA-5389857 Peptide transfer from P-site to A-site (peptide bond formation)
R-HSA-5389842 TUFM hydrolyzes GTP and TUFM:GDP dissociates from 55S ribosome
R-HSA-5419261 55S ribosome with peptidyl-tRNA in A site binds GFM1:GTP
R-HSA-5419281 MRRF binds 55S ribosome:mRNA:tRNA
R-HSA-5419279 Translocation of peptidyl-tRNA from A-site to P-site (and translocation of 55S ribosome by 3 bases along mRNA)
R-HSA-5419264 MTRF1L (MTRF1a) or ICT1 binds stop codon in 55S ribosome:mRNA:peptidyl-tRNA
R-HSA-5419277 GFM2:GTP binds 55S ribosome:mRNA:tRNA:MRRF releasing mRNA and tRNA
R-HSA-5368286 Mitochondrial translation initiation
R-HSA-5419276 Mitochondrial translation termination
R-HSA-5368287 Mitochondrial translation
R-HSA-5389840 Mitochondrial translation elongation
R-HSA-72766 Translation
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A6NG03, BM-022, NM_020236, NP_064621, Q4W5B8, Q6IAG4, Q96BW3, Q9BYD6, Q9H793, Q9NRL5, RM01_HUMAN
UCSC ID: uc003hku.2
RefSeq Accession: NM_020236
Protein: Q9BYD6 (aka RM01_HUMAN)
CCDS: CCDS3583.2

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_020236.3
exon count: 9CDS single in 3' UTR: no RNA size: 1377
ORF size: 978CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1667.00frame shift in genome: no % Coverage: 98.69
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.