MRPS7 mitochondrial ribosomal protein S7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MRPS7provided by HGNC
Official Full Name: mitochondrial ribosomal protein S7provided by HGNC
Primary source: HGNC:HGNC:14499
See related: Ensembl:ENSG00000125445 MIM:611974; AllianceGenome:HGNC:14499
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: S7mt; uS7m; MRP-S; RP-S7; RPMS7; MRP-S7; COXPD34; bMRP27a
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. In the prokaryotic ribosome, the comparable protein is thought to play an essential role in organizing the 3' domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudogenes corresponding to this gene are found on chromosomes 8p and 12p. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in heart (RPKM 37.2), kidney (RPKM 29.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (75261879..75266376)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (76153972..76158469)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (73257960..73262457)

Chromosome 17 - NC_000017.11 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?

Study identified MRPS7 mutation as a novel cause of congenital sensorineural deafness and progressive hepatic and renal failure.
Title: Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
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 34 MedGen: C4693450 OMIM: 617872 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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables rRNA binding	IBA Inferred from Biological aspect of Ancestor more info
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	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrial translation	NAS Non-traceable Author Statement more info	PubMed
involved_in ribosomal small subunit assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in translation	IBA Inferred from Biological aspect of Ancestor 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 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	ISS Inferred from Sequence or Structural Similarity more info
part_of mitochondrial small ribosomal subunit	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in ribosome	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: small ribosomal subunit protein uS7m

Names: 28S ribosomal protein S7, mitochondrial; 30S ribosomal protein S7 homolog; bMRP-27a; mitochondrial small ribosomal subunit protein uS7m

NP_057055.2

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_015971.4 → NP_057055.2 small ribosomal subunit protein uS7m

See identical proteins and their annotated locations for NP_057055.2

Status: REVIEWED

Source sequence(s)

AC022211

Consensus CDS

CCDS11718.1

UniProtKB/Swiss-Prot

B2R9N5, Q53GD6, Q9Y2R9

Related

ENSP00000245539.6, ENST00000245539.11

Conserved Domains (1) summary

cd14870
Location:35 → 240

uS7_Mitochondria_Mammalian; Mammalian Mitochondrial homolog of Ribosomal Protein S7