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    MRPL14 mitochondrial ribosomal protein L14 [ Homo sapiens (human) ]

    Gene ID: 64928, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MRPL14provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L14provided by HGNC
    Primary source
    HGNC:HGNC:14279
    See related
    Ensembl:ENSG00000180992 MIM:611827; AllianceGenome:HGNC:14279
    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
    L14mt; L32mt; uL14m; MRPL32; RMPL32; RPML32; MRP-L14; MRP-L32
    Summary
    This nuclear gene encodes a protein component of the 39S subunit of the mitochondrial ribosome. A pseudogene of this gene is found on chromosome 17. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in lung (RPKM 21.5), liver (RPKM 14.0) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See MRPL14 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (44113451..44127452, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (43946908..43960908, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (44081188..44095189, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43972319-43972950 Neighboring gene long intergenic non-protein coding RNA 3040 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:43977969-43979168 Neighboring gene stem cell inhibitory RNA transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44007317-44008074 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44009776-44010524 Neighboring gene Sharpr-MPRA regulatory region 2143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24625 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44019358-44019952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44022316-44022816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24626 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17245 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44030458-44031420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17247 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24630 Neighboring gene Sharpr-MPRA regulatory region 9341 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91788 Neighboring gene ribosomal protein L29 pseudogene 16 Neighboring gene Sharpr-MPRA regulatory region 15428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44069931-44070480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44070481-44071029 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91802 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91811 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44075151-44075650 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91827 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91835 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17251 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17252 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17254 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:44098898-44099057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44100902-44101867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44101868-44102832 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91847 Neighboring gene transmembrane protein 63B Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91852 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91874 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91884 Neighboring gene uncharacterized LOC107986599 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91890 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44134475-44135357 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:44137200-44138399 Neighboring gene calpain 11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44144390-44145092

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial translation. Fung S, et al. Mol Biol Cell, 2013 Feb. PMID 23171548, Free PMC Article
    2. Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels. Debette S, et al. Circ Res, 2011 Aug 19. PMID 21757650, Free PMC Article
    3. Mammalian mitochondrial ribosomal proteins. N-terminal amino acid sequencing, characterization, and identification of corresponding gene sequences. Goldschmidt-Reisin S, et al. J Biol Chem, 1998 Dec 25. PMID 9857009
    4. Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. GENDEP Investigators, et al. Am J Psychiatry, 2013 Feb. PMID 23377640, Free PMC Article
    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 (72) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. C7orf30 promotes incorporation of MRPL14 into the mitochondrial large ribosomal subunit.
      Title: The conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial translation.
    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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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
    EBI GWAS Catalog
    Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels.
    EBI GWAS Catalog

    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

    • MGC70566

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA 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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial large ribosomal subunit NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    large ribosomal subunit protein uL14m
    Names
    39S ribosomal protein L14, mitochondrial
    39S ribosomal protein L32, mitochondrial
    mitochondrial large ribosomal subunit protein uL14m

    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_001318767.2 → NP_001305696.1  large ribosomal subunit protein uL14m isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice sites in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (a).
      Source sequence(s)
      AA887574, AL109615, BM013002, BU597168
      Consensus CDS
      CCDS34460.1
      UniProtKB/Swiss-Prot
      B2R575, Q6P1L8, Q96Q72
      Conserved Domains (1) summary
      cl00328
      Location:33 → 141
      Ribosomal_L14; Ribosomal protein L14p/L23e

    2. NM_001318768.2 → NP_001305697.1  large ribosomal subunit protein uL14m isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (a).
      Source sequence(s)
      AA887574, AL109615, AL365192, BM013002, CK823336
      Consensus CDS
      CCDS34460.1
      UniProtKB/Swiss-Prot
      B2R575, Q6P1L8, Q96Q72
      Conserved Domains (1) summary
      cl00328
      Location:33 → 141
      Ribosomal_L14; Ribosomal protein L14p/L23e

    3. NM_001318769.2 → NP_001305698.1  large ribosomal subunit protein uL14m isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (b) has a longer N-terminus than isoform a.
      Source sequence(s)
      AA887574, AL109615, AL365192, BM013002, CF541260
      Conserved Domains (1) summary
      cl00328
      Location:43 → 153
      Ribosomal_L14; Ribosomal protein L14p/L23e

    4. NM_001318770.2 → NP_001305699.1  large ribosomal subunit protein uL14m isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (c) has a longer N-terminus than isoform a.
      Source sequence(s)
      AA887574, AL109615, AL365192, BG545603, BM013002
      Conserved Domains (1) summary
      cl00328
      Location:85 → 195
      Ribosomal_L14; Ribosomal protein L14p/L23e

    5. NM_001318771.2 → NP_001305700.1  large ribosomal subunit protein uL14m isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an exon in the 5' region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (d) has a shorter N-terminus than isoform a.
      Source sequence(s)
      AA887574, AL109615, BM013002, BM559405, BU753526
      Conserved Domains (1) summary
      cl00328
      Location:2 → 108
      Ribosomal_L14; Ribosomal protein L14p/L23e

    6. NM_032111.4 → NP_115487.2  large ribosomal subunit protein uL14m isoform a precursor

      See identical proteins and their annotated locations for NP_115487.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a. Variants 1, 2, and 3 encode the same isoform (a).
      Source sequence(s)
      AA887574, AL109615, BM559405
      Consensus CDS
      CCDS34460.1
      UniProtKB/Swiss-Prot
      B2R575, Q6P1L8, Q96Q72
      Related
      ENSP00000361084.3, ENST00000372014.5
      Conserved Domains (1) summary
      cl00328
      Location:33 → 141
      Ribosomal_L14; Ribosomal protein L14p/L23e

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      44113451..44127452 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      43946908..43960908 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P1L8.1 GenPept UniProtKB/Swiss-Prot:Q6P1L8

    Gene LinkOut

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

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