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

Gene ID: 84545, updated on 8-Jul-2018
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; Vega:OTTHUMG00000018920
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
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
See MRPL43 in Genome Data Viewer
Location:
10q24.31
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (100977820..100987519, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (102737579..102747272, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene SMC5-SMC6 complex localization factor 2 Neighboring gene semaphorin 4G Neighboring gene microRNA 608 Neighboring gene twinkle mtDNA helicase Neighboring gene leucine zipper tumor suppressor 2 Neighboring gene PDZ domain containing 7

  • 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 Jun 15 11:32:44 2016
  • Mitochondrial translation, organism-specific biosystem (from REACTOME)
    Mitochondrial translation, organism-specific biosystemOf the roughly 1000 human mitochondrial proteins only 13 proteins, all of them hydrophobic inner membrane proteins that are components of the oxidative phosphorylation apparatus, are encoded in the m...
  • Mitochondrial translation elongation, organism-specific biosystem (from REACTOME)
    Mitochondrial translation elongation, organism-specific biosystemTranslation elongation proceeds by cycles of aminoacyl-tRNAs binding, peptide bond formation, and displacement of deacylated tRNAs (reviewed in Christian and Spremulli 2012). In each cycle an aminoac...
  • Mitochondrial translation initiation, organism-specific biosystem (from REACTOME)
    Mitochondrial translation initiation, organism-specific biosystemTranslation initiates with the mitochondrial mRNA binding the 28S subunit:MTIF3 (28S subunit:IF-3Mt, 28S subunit:IF3mt) complex together with MTIF2:GTP (IF-2Mt:GTP, IF2mt:GTP) (reviewed in Christian ...
  • Mitochondrial translation termination, organism-specific biosystem (from REACTOME)
    Mitochondrial translation termination, organism-specific biosystemTranslation is terminated when MTRF1L:GTP (MTRF1a:GTP) recognizes a UAA or UAG termination codon in the mRNA at the A site of the ribosome (Soleimanpour-Lichaei et al. 2007, reviewed in Richter et al...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC17989, MGC48892

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of ribosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
structural constituent of ribosome NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
mitochondrial translational elongation TAS
Traceable Author Statement
more info
 
mitochondrial translational termination TAS
Traceable Author Statement
more info
 
translation NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial large ribosomal subunit IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial large ribosomal subunit IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial ribosome NAS
Non-traceable Author Statement
more info
PubMed 
Preferred Names
39S ribosomal protein L43, mitochondrial
Names
mitochondrial large ribosomal subunit protein mL43
mitochondrial ribosomal protein bMRP36a

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
    5001..14694
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001308396.1NP_001295325.1  39S ribosomal protein L43, mitochondrial 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/Swiss-Prot
    Q8N983
    Related
    ENSP00000359254.4, OTTHUMP00000020303, ENST00000370234.4, OTTHUMT00000049901
    Conserved Domains (1) summary
    smart00916
    Location:38107
    L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain
  2. NM_032112.2NP_115488.2  39S ribosomal protein L43, mitochondrial 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/Swiss-Prot
    Q8N983
    UniProtKB/TrEMBL
    A8K4V4
    Related
    ENSP00000315948.8, OTTHUMP00000020305, ENST00000318364.12, OTTHUMT00000049904
    Conserved Domains (1) summary
    smart00916
    Location:38107
    L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain
  3. NM_176792.2NP_789762.1  39S ribosomal protein L43, mitochondrial 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
    Q8N983
    Related
    ENSP00000315364.2, OTTHUMP00000020304, ENST00000318325.6, OTTHUMT00000049902
    Conserved Domains (1) summary
    smart00916
    Location:38107
    L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain
  4. NM_176793.1NP_789763.1  39S ribosomal protein L43, mitochondrial 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)
    BC053373, BG620490
    Consensus CDS
    CCDS7503.1
    UniProtKB/Swiss-Prot
    Q8N983
    Related
    ENSP00000299179.5, OTTHUMP00000020307, ENST00000299179.9, OTTHUMT00000049907
    Conserved Domains (1) summary
    smart00916
    Location:38107
    L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain
  5. NM_176794.1NP_789764.1  39S ribosomal protein L43, mitochondrial 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:38107
    L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    100977820..100987519 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718035.4XP_006718098.1  39S ribosomal protein L43, mitochondrial isoform X2

    See identical proteins and their annotated locations for XP_006718098.1

    UniProtKB/Swiss-Prot
    Q8N983
    Conserved Domains (1) summary
    smart00916
    Location:38107
    L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain
  2. XM_017016790.2XP_016872279.1  39S ribosomal protein L43, mitochondrial isoform X1

    Conserved Domains (1) summary
    smart00916
    Location:38145
    L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain
  3. XM_005270231.3XP_005270288.1  39S ribosomal protein L43, mitochondrial isoform X2

    See identical proteins and their annotated locations for XP_005270288.1

    UniProtKB/Swiss-Prot
    Q8N983
    Related
    ENSP00000359256.1, OTTHUMP00000020310, ENST00000370236.5
    Conserved Domains (1) summary
    smart00916
    Location:38107
    L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain

RNA

  1. XR_002957025.1 RNA Sequence

  2. XR_246111.5 RNA Sequence

    Related
    ENST00000448244.5
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