MRPL10 mitochondrial ribosomal protein L10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MRPL10provided by HGNC
Official Full Name: mitochondrial ribosomal protein L10provided by HGNC
Primary source: HGNC:HGNC:14055
See related: Ensembl:ENSG00000159111 MIM:611825; AllianceGenome:HGNC:14055
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: L10MT; MRPL8; RPML8; uL10m; MRP-L8; MRP-L10
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. Sequence analysis identified three transcript variants that encode two different isoforms. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Nov 2010]
Expression: Ubiquitous expression in ovary (RPKM 25.7), heart (RPKM 18.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.32

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (47823272..47831541, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (48685040..48693314, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (45900638..45908907, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
Title: Integrative predictive model of coronary artery calcification in atherosclerosis.
Analyzes the RNA binding properties of orthologous bovine 39S ribosomal subunit proteins, including MRPL10.
Title: RNA binding proteins of the large subunit of bovine mitochondrial ribosomes.

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
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of mitochondrial ribosomal protein L10 (MRPL10) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MRPL10_2482 (e-PCR)
- UniSTS:280850

STS-AA039646 (e-PCR)
- UniSTS:41041

D1S1425 (e-PCR)
- UniSTS:149621

RH64830 (e-PCR)
- UniSTS:87182

G43163 (e-PCR)
- UniSTS:94888

G59312 (e-PCR)
- UniSTS:136627

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in mitochondrial translation	NAS Non-traceable Author Statement more info	PubMed
involved_in translation	IBA Inferred from Biological aspect of Ancestor more info
involved_in translation	ISS Inferred from Sequence or Structural Similarity more info

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	ISS Inferred from Sequence or Structural Similarity more info
part_of mitochondrial large ribosomal subunit	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
part_of ribonucleoprotein complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: large ribosomal subunit protein uL10m

Names: 39S ribosomal protein L10, mitochondrial; 39S ribosomal protein L8, mitochondrial; L8mt; mitochondrial large ribosomal subunit protein uL10m

NP_660298.2

EC 3.6.5.3

NP_683685.1

EC 3.6.5.3

XP_024306343.1

EC 3.6.5.3

XP_054171019.1

EC 3.6.5.3

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)

NM_145255.4 → NP_660298.2 large ribosomal subunit protein uL10m isoform a precursor

See identical proteins and their annotated locations for NP_660298.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) is the predominant transcript.

Source sequence(s)

AI221522, BC039852, DA137043

Consensus CDS

CCDS11516.1

UniProtKB/Swiss-Prot

A6NGJ4, Q7Z7H8, Q96B80, Q96Q55

UniProtKB/TrEMBL

B4DEH0

Related

ENSP00000324100.4, ENST00000351111.7

Conserved Domains (1) summary

cd05797
Location:81 → 226

Ribosomal_L10; Ribosomal protein L10 family, L10 subfamily; composed of bacterial 50S ribosomal protein and eukaryotic mitochondrial 39S ribosomal protein, L10. L10 occupies the L7/L12 stalk of the ribosome. The N-terminal domain (NTD) of L10 interacts with L11 protein ...
NM_148887.3 → NP_683685.1 large ribosomal subunit protein uL10m isoform b

See identical proteins and their annotated locations for NP_683685.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an additional coding region exon, compared to variant 1, that results in a longer protein (isoform b) with a longer and distinct N-terminus, compared to isoform a. The predicted protein does not contain a possible mitochondrial transit peptide sequence. A uORF with strong Kozak signal exists, but its length is short enough (18 aa) that it is not expected to interfere with translation from the longer, downstream ORF of 271 aa.

Source sequence(s)

AC003665, AI221522, BC039852, DA137043

Consensus CDS

CCDS11517.1

UniProtKB/TrEMBL

B4DEH0

Related

ENSP00000395870.1, ENST00000414011.1

Conserved Domains (1) summary

cd05797
Location:91 → 236

Ribosomal_L10; Ribosomal protein L10 family, L10 subfamily; composed of bacterial 50S ribosomal protein and eukaryotic mitochondrial 39S ribosomal protein, L10. L10 occupies the L7/L12 stalk of the ribosome. The N-terminal domain (NTD) of L10 interacts with L11 protein ...

RNA

NR_037575.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AI221522, AK293624, BC039852, DA137043

Related

ENST00000421763.5

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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

47823272..47831541 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024450575.2 → XP_024306343.1 large ribosomal subunit protein uL10m isoform X1

UniProtKB/TrEMBL

B4DEH0

Conserved Domains (1) summary

cd05797
Location:91 → 236

Ribosomal_L10; Ribosomal protein L10 family, L10 subfamily; composed of bacterial 50S ribosomal protein and eukaryotic mitochondrial 39S ribosomal protein, L10. L10 occupies the L7/L12 stalk of the ribosome. The N-terminal domain (NTD) of L10 interacts with L11 protein ...