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MRPL1 mitochondrial ribosomal protein L1 [ Homo sapiens (human) ]

Gene ID: 65008, updated on 27-Nov-2024

Summary

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Official Symbol
MRPL1provided by HGNC
Official Full Name
mitochondrial ribosomal protein L1provided by HGNC
Primary source
HGNC:HGNC:14275
See related
Ensembl:ENSG00000169288 MIM:611821; AllianceGenome:HGNC:14275
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
L1MT; uL1m; BM022; MRP-L1
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 8.5), heart (RPKM 8.4) and 25 other tissues See more
Orthologs
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Genomic context

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See MRPL1 in Genome Data Viewer
Location:
4q21.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (77862830..77952785)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (81202852..81293608)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (78783984..78873939)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21639 Neighboring gene CCR4-NOT transcription complex subunit 6 like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:78691877-78692518 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15509 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21640 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:78781972-78782187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21642 Neighboring gene uncharacterized LOC102724916 Neighboring gene serine and arginine rich splicing factor 10 pseudogene Neighboring gene high mobility group box 1 pseudogene 44

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Driver Gene and Novel Mutations in Asbestos-Exposed Lung Adenocarcinoma and Malignant Mesothelioma Detected by Exome Sequencing. Mäki-Nevala S, et al. Lung, 2016 Feb. PMID 26463840
  2. The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. Kenmochi N, et al. Genomics, 2001 Sep. PMID 11543634
  3. Cold-inducible RBM3 inhibits PERK phosphorylation through cooperation with NF90 to protect cells from endoplasmic reticulum stress. Zhu X, et al. FASEB J, 2016 Feb. PMID 26472337
  4. Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes. Choy KW, et al. Physiol Genomics, 2006 Mar 13. PMID 16368877
  5. Structural compensation for the deficit of rRNA with proteins in the mammalian mitochondrial ribosome. Systematic analysis of protein components of the large ribosomal subunit from mammalian mitochondria. Suzuki T, et al. J Biol Chem, 2001 Jun 15. PMID 11279069

See all (70) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MLRP1 could possibly serve as a candidate gene for alterations associated with asbestos exposure.
    Title: Driver Gene and Novel Mutations in Asbestos-Exposed Lung Adenocarcinoma and Malignant Mesothelioma Detected by Exome Sequencing.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ96680

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural constituent of ribosome IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in mitochondrial translation NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial inner membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
part_of mitochondrial large ribosomal subunit NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrion HTP PubMed 

General protein information

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Preferred Names
large ribosomal subunit protein uL1m
Names
39S ribosomal protein L1, mitochondrial
mitochondrial large ribosomal subunit protein uL1m

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_020236.4 → NP_064621.3  large ribosomal subunit protein uL1m precursor

    See identical proteins and their annotated locations for NP_064621.3

    Status: REVIEWED

    Source sequence(s)
    BC014356, BU675164
    Consensus CDS
    CCDS3583.2
    UniProtKB/Swiss-Prot
    A6NG03, Q4W5B8, Q6IAG4, Q96BW3, Q9BYD6, Q9H793, Q9NRL5
    UniProtKB/TrEMBL
    A0PJ79
    Related
    ENSP00000315017.8, ENST00000315567.13
    Conserved Domains (1) summary
    TIGR01170
    Location:97 → 240
    rplA_mito; ribosomal protein uL1, mitochondrial

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    77862830..77952785
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047416089.1 → XP_047272045.1  large ribosomal subunit protein uL1m isoform X1

  2. XM_047416090.1 → XP_047272046.1  large ribosomal subunit protein uL1m isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    81202852..81293608
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350733.1 → XP_054206708.1  large ribosomal subunit protein uL1m isoform X3

    UniProtKB/Swiss-Prot
    A6NG03, Q4W5B8, Q6IAG4, Q96BW3, Q9BYD6, Q9H793, Q9NRL5

  2. XM_054350735.1 → XP_054206710.1  large ribosomal subunit protein uL1m isoform X2

  3. XM_054350734.1 → XP_054206709.1  large ribosomal subunit protein uL1m isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BYD6.2 GenPept UniProtKB/Swiss-Prot:Q9BYD6

Gene LinkOut

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