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

Gene ID: 64928, updated on 7-Apr-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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Location:
6p21.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (44113451..44127452, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (43946908..43960908, complement)
105.20220307 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 RNA polymerase I and III subunit C 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 CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:43977969-43979168 Neighboring gene long intergenic non-protein coding RNA 3040 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 silent region 17245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24626 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 stem cell inhibitory RNA transcript Neighboring gene Sharpr-MPRA regulatory region 9341 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91788 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 17254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17253 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 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 ribosomal protein L29 pseudogene 16 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44144390-44145092 Neighboring gene transmembrane protein 63B Neighboring gene calpain 11

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

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)

Genotypes

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 
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_2023_10

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

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