MRPS14 mitochondrial ribosomal protein S14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MRPS14provided by HGNC
Official Full Name: mitochondrial ribosomal protein S14provided by HGNC
Primary source: HGNC:HGNC:14049
See related: Ensembl:ENSG00000120333 MIM:611978; AllianceGenome:HGNC:14049
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: S14mt; uS14m; COXPD38; MRP-S14; HSMRPS14; DJ262D12.2
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 28S subunit protein that belongs to the ribosomal protein S14P family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
Expression: Ubiquitous expression in brain (RPKM 14.6), thyroid (RPKM 14.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q25.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (175012958..175023425, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (174366714..174377180, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (174982094..174992561, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

our data demonstrate pathogenic mutations in MRPS14 can manifest as a perinatal-onset mitochondrial hypertrophic cardiomyopathy with a novel molecular pathogenic mechanism that impairs the function of mitochondrial ribosomes during translation elongation or mitochondrial mRNA recruitment rather than assembly.
Title: A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.
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

Associated conditions

Description	Tests
Combined oxidative phosphorylation deficiency 38 MedGen: C5193064 OMIM: 618378 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78988 (e-PCR)
- UniSTS:76047

RH79094 (e-PCR)
- UniSTS:10567

SHGC-36175 (e-PCR)
- UniSTS:10568

SHGC-37552 (e-PCR)
- UniSTS:57694

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	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial translation	IMP Inferred from Mutant Phenotype more info	PubMed
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	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
located_in mitochondrial ribosome	NAS Non-traceable Author Statement more info	PubMed
part_of mitochondrial small ribosomal subunit	IBA Inferred from Biological aspect of Ancestor more info
part_of mitochondrial small ribosomal subunit	IDA Inferred from Direct Assay more info	PubMed
part_of mitochondrial small 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
located_in nuclear membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: small ribosomal subunit protein uS14m

Names: 28S ribosomal protein S14, mitochondrial; mitochondrial 28S ribosomal protein S14; mitochondrial small ribosomal subunit protein uS14m

NP_071383.1

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_022100.3 → NP_071383.1 small ribosomal subunit protein uS14m

See identical proteins and their annotated locations for NP_071383.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the functional protein.

Source sequence(s)

AI086885, AL049705, BE882322, DA610441

Consensus CDS

CCDS1316.1

UniProtKB/Swiss-Prot

O60783, Q5R358

UniProtKB/TrEMBL

B2R4A5

Related

ENSP00000420714.1, ENST00000476371.1

Conserved Domains (1) summary

pfam00253
Location:74 → 126

Ribosomal_S14; Ribosomal protein S14p/S29e

RNA

NR_037606.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AI086885, AK310915, AL049705, BE882322, DA610441