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    MRPL40 mitochondrial ribosomal protein L40 [ Homo sapiens (human) ]

    Gene ID: 64976, updated on 9-Dec-2024

    Summary

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    Official Symbol
    MRPL40provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L40provided by HGNC
    Primary source
    HGNC:HGNC:14491
    See related
    Ensembl:ENSG00000185608 MIM:605089; AllianceGenome:HGNC:14491
    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
    URIM; mL40; L40mt; NLVCF; MRPL22; MRP-L22; MRP-L40
    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. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 13.6), heart (RPKM 10.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPL40 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (19432545..19436075)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (19809376..19812906)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19420068..19423598)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19284079-19284580 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19284581-19285080 Neighboring gene histone cell cycle regulator Neighboring gene RNA, 7SL, cytoplasmic 168, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18658 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:19418111-19418858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13460 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:19434430-19435332 Neighboring gene chromosome 22 open reading frame 39 Neighboring gene UFD1 antisense RNA 1 Neighboring gene ubiquitin recognition factor in ER associated degradation 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13462

    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. Mitochondrial deficits in human iPSC-derived neurons from patients with 22q11.2 deletion syndrome and schizophrenia. Li J, et al. Transl Psychiatry, 2019 Nov 18. PMID 31740674, Free PMC Article
    2. Identification of URIM, a novel gene up-regulated in metastasis. Hildebrandt T, et al. Anticancer Res, 1999 Jan-Feb. PMID 10226592
    3. Mitochondria "fuel" breast cancer metabolism: fifteen markers of mitochondrial biogenesis label epithelial cancer cells, but are excluded from adjacent stromal cells. Sotgia F, et al. Cell Cycle, 2012 Dec 1. PMID 23172368, Free PMC Article
    4. Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome. Napoli E, et al. J Biol Chem, 2015 Sep 18. PMID 26221035, Free PMC Article
    5. Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11. Funke B, et al. Genomics, 1998 Oct 15. PMID 9790763

    See all (67) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mitochondrial deficits in human iPSC-derived neurons from patients with 22q11.2 deletion syndrome and schizophrenia.
      Title: Mitochondrial deficits in human iPSC-derived neurons from patients with 22q11.2 deletion syndrome and schizophrenia.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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

    • MGC9400, FLJ41774

    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 
    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial large ribosomal subunit NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in mitochondrial ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial ribosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    large ribosomal subunit protein mL40
    Names
    39S ribosomal protein L40, mitochondrial
    mitochondrial large ribosomal subunit protein mL40
    nuclear localization signal-containing protein deleted in velocardiofacial syndrome
    up-regulated in metastasis

    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_001318151.2 → NP_001305080.1  large ribosomal subunit protein mL40 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus and lacks the predicted mitochondrial transit peptide compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      BM974354, BX382916, CN409565
      Related
      ENST00000443660.5
      Conserved Domains (1) summary
      pfam09812
      Location:1 → 139
      MRP-L28; Mitochondrial ribosomal protein L28

    2. NM_003776.4 → NP_003767.2  large ribosomal subunit protein mL40 isoform 1

      See identical proteins and their annotated locations for NP_003767.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC009707
      Consensus CDS
      CCDS13760.1
      UniProtKB/Swiss-Prot
      B3KVZ7, O95134, Q9NQ50
      Related
      ENSP00000333401.3, ENST00000333130.4
      Conserved Domains (1) summary
      pfam09812
      Location:45 → 199
      MRP-L28; Mitochondrial ribosomal protein L28

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      19432545..19436075
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      19809376..19812906
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001318152.1: Suppressed sequence

      Description
      NM_001318152.1: This RefSeq was removed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQ50.1 GenPept UniProtKB/Swiss-Prot:Q9NQ50

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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