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    MRPL43 mitochondrial ribosomal protein L43 [ Homo sapiens (human) ]

    Gene ID: 84545, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MRPL43provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L43provided by HGNC
    Primary source
    HGNC:HGNC:14517
    See related
    Ensembl:ENSG00000055950 MIM:611848; AllianceGenome:HGNC:14517
    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
    mL43; L43mt; MRP-L43; bMRP36a
    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. This gene and the gene for a semaphorin class 4 protein (SEMA4G) overlap at map location 10q24.31 and are transcribed in opposite directions. Sequence analysis identified multiple transcript variants encoding at least four different protein isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 12.8), ovary (RPKM 11.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPL43 in Genome Data Viewer
    Location:
    10q24.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (100977820..100987497, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (101861195..101870872, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (102737577..102747254, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3901 Neighboring gene SMC5-SMC6 complex localization factor 2 Neighboring gene Sharpr-MPRA regulatory region 3697 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2711 Neighboring gene semaphorin 4G Neighboring gene microRNA 608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3902 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:102755784-102756653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2712 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2713 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2714 Neighboring gene twinkle mtDNA helicase Neighboring gene leucine zipper tumor suppressor 2 Neighboring gene PDZ domain containing 7

    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. Antagonistic regulatory effects of a single cis-acting expression quantitative trait locus between transcription and translation of the MRPL43 gene. Han J, et al. BMC Genom Data, 2022 Jun 4. PMID 35659240, Free PMC Article
    2. miR-608 rs4919510 Polymorphism May Affect Susceptibility to Colorectal Cancer by Upregulating MRPL43 Expression. Zhu X, et al. DNA Cell Biol, 2020 Nov. PMID 33147064
    3. Network-based meta-analysis and the candidate gene association studies reveal novel ethnicity-specific variants in MFSD3 and MRPL43 associated with dementia with Lewy bodies. Shigemizu D, et al. Am J Med Genet B Neuropsychiatr Genet, 2022 Jul. PMID 35765761, Free PMC Article
    4. Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number. Tyynismaa H, et al. Hum Mol Genet, 2004 Dec 15. PMID 15509589
    5. 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

    See all (73) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Network-based meta-analysis and the candidate gene association studies reveal novel ethnicity-specific variants in MFSD3 and MRPL43 associated with dementia with Lewy bodies.
      Title: Network-based meta-analysis and the candidate gene association studies reveal novel ethnicity-specific variants in MFSD3 and MRPL43 associated with dementia with Lewy bodies.
    2. Antagonistic regulatory effects of a single cis-acting expression quantitative trait locus between transcription and translation of the MRPL43 gene.
      Title: Antagonistic regulatory effects of a single cis-acting expression quantitative trait locus between transcription and translation of the MRPL43 gene.
    3. miR-608 rs4919510 Polymorphism May Affect Susceptibility to Colorectal Cancer by Upregulating MRPL43 Expression.
      Title: miR-608 rs4919510 Polymorphism May Affect Susceptibility to Colorectal Cancer by Upregulating MRPL43 Expression.
    4. 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

    • MGC17989, MGC48892

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of ribosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in 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 IBA
    Inferred from Biological aspect of Ancestor
    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 
    located_in mitochondrial ribosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    large ribosomal subunit protein mL43
    Names
    39S ribosomal protein L43, mitochondrial
    mitochondrial large ribosomal subunit protein mL43
    mitochondrial ribosomal protein bMRP36a

    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.

    Genomic

    1. NG_011646.1 RefSeqGene

      Range
      5019..6247
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001308396.2 → NP_001295325.1  large ribosomal subunit protein mL43 isoform e

      See identical proteins and their annotated locations for NP_001295325.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 3' coding region, compared to variant 1. The encoded isoform (e) has a longer and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      BC052639, BU597385
      Consensus CDS
      CCDS76331.1
      UniProtKB/TrEMBL
      A8K4V4
      Related
      ENSP00000359254.4, ENST00000370234.4
      Conserved Domains (1) summary
      smart00916
      Location:38 → 107
      L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain

    2. NM_001394981.1 → NP_001381910.1  large ribosomal subunit protein mL43 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL133215
      Conserved Domains (1) summary
      smart00916
      Location:38 → 107
      L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain

    3. NM_001394982.1 → NP_001381911.1  large ribosomal subunit protein mL43 isoform g

      Status: REVIEWED

      Source sequence(s)
      AL133215
      Consensus CDS
      CCDS91322.1
      Related
      ENSP00000359262.4, ENST00000370242.8
      Conserved Domains (1) summary
      smart00916
      Location:38 → 107
      L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain

    4. NM_001394983.1 → NP_001381912.1  large ribosomal subunit protein mL43 isoform h

      Status: REVIEWED

      Source sequence(s)
      AL133215
      Consensus CDS
      CCDS91321.1
      UniProtKB/TrEMBL
      A8K4V4, B1AL05
      Related
      ENSP00000359261.3, ENST00000370241.7
      Conserved Domains (1) summary
      smart00916
      Location:38 → 107
      L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain

    5. NM_032112.3 → NP_115488.2  large ribosomal subunit protein mL43 isoform a

      See identical proteins and their annotated locations for NP_115488.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AK291069, AL133215, BC015905, BG620490, BM455058
      Consensus CDS
      CCDS7505.1
      UniProtKB/TrEMBL
      A8K4V4
      Related
      ENSP00000315948.8, ENST00000318364.13
      Conserved Domains (1) summary
      smart00916
      Location:38 → 107
      L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain

    6. NM_176792.3 → NP_789762.1  large ribosomal subunit protein mL43 isoform b

      See identical proteins and their annotated locations for NP_789762.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and has multiple coding region differences, compared to variant 1. This results in a longer isoform (b) with a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AL133215
      Consensus CDS
      CCDS7502.1
      UniProtKB/Swiss-Prot
      B1AL06, B1AL07, B1AL09, B1AL10, C9J5Q3, D3DR71, Q5JW06, Q7Z719, Q7Z7H6, Q86XN1, Q8N983, Q9BYC7
      Related
      ENSP00000315364.2, ENST00000318325.6
      Conserved Domains (1) summary
      smart00916
      Location:38 → 107
      L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain

    7. NM_176793.2 → NP_789763.1  large ribosomal subunit protein mL43 isoform c

      See identical proteins and their annotated locations for NP_789763.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and has multiple coding region differences, compared to variant 1. This results in a longer isoform (c) with a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AL133215, BC053373, BG620490
      Consensus CDS
      CCDS7503.1
      UniProtKB/Swiss-Prot
      Q8N983
      Related
      ENSP00000299179.5, ENST00000299179.9
      Conserved Domains (1) summary
      smart00916
      Location:38 → 107
      L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain

    8. NM_176794.2 → NP_789764.1  large ribosomal subunit protein mL43 isoform d

      See identical proteins and their annotated locations for NP_789764.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and has multiple coding region differences, compared to variant 1. This results in a longer isoform (d) with a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AL133215
      Consensus CDS
      CCDS7504.1
      UniProtKB/Swiss-Prot
      Q8N983
      Related
      ENSP00000339844.1, ENST00000342071.5
      Conserved Domains (1) summary
      smart00916
      Location:38 → 107
      L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      100977820..100987497 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270231.3 → XP_005270288.1  large ribosomal subunit protein mL43 isoform X1

      See identical proteins and their annotated locations for XP_005270288.1

      UniProtKB/TrEMBL
      A8K4V4
      Related
      ENSP00000359256.1, ENST00000370236.5
      Conserved Domains (1) summary
      smart00916
      Location:38 → 107
      L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain

    RNA

    1. XR_246111.6 RNA Sequence

      Related
      ENST00000448244.5

    2. XR_007062007.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      101861195..101870872 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366956.1 → XP_054222931.1  large ribosomal subunit protein mL43 isoform X1

    RNA

    1. XR_008488298.1 RNA Sequence

    2. XR_008488299.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N983.1 GenPept UniProtKB/Swiss-Prot:Q8N983

    Gene LinkOut

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

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