Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	65993
Gene name	Mitochondrial ribosomal protein S34
Gene symbol	MRPS34
Synonyms (NCBI Gene)	COXPD32MRP-S12MRP-S34MRPS12mS34
Chromosome	16
Chromosome location	16p13.3
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% prot

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020816	hsa-miR-155-5p	Proteomics	18668040
MIRT029599	hsa-miR-26b-5p	Microarray	19088304
MIRT050407	hsa-miR-23a-3p	CLASH	23622248
MIRT1160391	hsa-miR-1275	CLIP-seq
MIRT1160392	hsa-miR-2355-5p	CLIP-seq
MIRT1160393	hsa-miR-296-5p	CLIP-seq
MIRT1160394	hsa-miR-3153	CLIP-seq
MIRT1160395	hsa-miR-3166	CLIP-seq
MIRT1160396	hsa-miR-3670	CLIP-seq
MIRT1160397	hsa-miR-3679-3p	CLIP-seq
MIRT1160398	hsa-miR-4315	CLIP-seq
MIRT1160399	hsa-miR-4426	CLIP-seq
MIRT1160400	hsa-miR-4506	CLIP-seq
MIRT1160401	hsa-miR-4525	CLIP-seq
MIRT1160402	hsa-miR-4647	CLIP-seq
MIRT1160403	hsa-miR-4662b	CLIP-seq
MIRT1160404	hsa-miR-4665-5p	CLIP-seq
MIRT1160405	hsa-miR-4723-5p	CLIP-seq
MIRT1160406	hsa-miR-4771	CLIP-seq
MIRT1160407	hsa-miR-4792	CLIP-seq
MIRT1160408	hsa-miR-625	CLIP-seq
MIRT2046086	hsa-miR-103b	CLIP-seq
MIRT2046087	hsa-miR-1256	CLIP-seq
MIRT2046088	hsa-miR-1262	CLIP-seq
MIRT2046089	hsa-miR-1827	CLIP-seq
MIRT2046090	hsa-miR-214	CLIP-seq
MIRT2046091	hsa-miR-3128	CLIP-seq
MIRT2046092	hsa-miR-3151	CLIP-seq
MIRT2046093	hsa-miR-3619-5p	CLIP-seq
MIRT1160396	hsa-miR-3670	CLIP-seq
MIRT2046094	hsa-miR-376a	CLIP-seq
MIRT2046095	hsa-miR-376b	CLIP-seq
MIRT2046096	hsa-miR-3974	CLIP-seq
MIRT2046097	hsa-miR-4259	CLIP-seq
MIRT2046098	hsa-miR-4286	CLIP-seq
MIRT2046099	hsa-miR-4447	CLIP-seq
MIRT2046100	hsa-miR-4455	CLIP-seq
MIRT2046101	hsa-miR-4472	CLIP-seq
MIRT2046102	hsa-miR-4488	CLIP-seq
MIRT2046103	hsa-miR-4697-5p	CLIP-seq
MIRT2046104	hsa-miR-4701-3p	CLIP-seq
MIRT2046105	hsa-miR-4717-5p	CLIP-seq
MIRT2046106	hsa-miR-4720-5p	CLIP-seq
MIRT2046107	hsa-miR-4753-5p	CLIP-seq
MIRT1160406	hsa-miR-4771	CLIP-seq
MIRT1160407	hsa-miR-4792	CLIP-seq
MIRT2046108	hsa-miR-4799-3p	CLIP-seq
MIRT2046109	hsa-miR-486-3p	CLIP-seq
MIRT2046110	hsa-miR-491-5p	CLIP-seq
MIRT2046111	hsa-miR-571	CLIP-seq
MIRT2046112	hsa-miR-609	CLIP-seq
MIRT2046113	hsa-miR-761	CLIP-seq
MIRT1160391	hsa-miR-1275	CLIP-seq
MIRT1160394	hsa-miR-3153	CLIP-seq
MIRT2046100	hsa-miR-4455	CLIP-seq
MIRT1160400	hsa-miR-4506	CLIP-seq
MIRT1160401	hsa-miR-4525	CLIP-seq
MIRT1160404	hsa-miR-4665-5p	CLIP-seq
MIRT1160405	hsa-miR-4723-5p	CLIP-seq
MIRT1160408	hsa-miR-625	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003735	Function	Structural constituent of ribosome	IBA
GO:0003735	Function	Structural constituent of ribosome	IEA
GO:0003735	Function	Structural constituent of ribosome	IMP	28777931
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	27023846
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005763	Component	Mitochondrial small ribosomal subunit	IBA
GO:0005763	Component	Mitochondrial small ribosomal subunit	ISS
GO:0005763	Component	Mitochondrial small ribosomal subunit	NAS	25838379
GO:0005840	Component	Ribosome	IEA
GO:0032543	Process	Mitochondrial translation	IBA
GO:0032543	Process	Mitochondrial translation	IEA
GO:0032543	Process	Mitochondrial translation	IMP	28777931
GO:0032543	Process	Mitochondrial translation	ISS
GO:0032543	Process	Mitochondrial translation	NAS	27023846
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
611994	16618	ENSG00000074071

P82930

Protein name

Small ribosomal subunit protein mS34 (28S ribosomal protein S34, mitochondrial) (MRP-S34) (S34mt)

Protein function

Required for mitochondrial translation, plays a role in maintaining the stability of the small ribosomal subunit and the 12S rRNA that are required for mitoribosome formation.

PDB

3J9M , 6NU2 , 6RW4 , 6RW5 , 6VLZ , 6VMI , 6ZM5 , 6ZM6 , 6ZS9 , 6ZSA , 6ZSB , 6ZSC , 6ZSD , 6ZSE , 6ZSG , 7A5F , 7A5G , 7A5I , 7A5K , 7L08 , 7OG4 , 7P2E , 7PNX , 7PNY , 7PNZ , 7PO0 , 7PO1 , 7PO2 , 7PO3 , 7QI4 , 7QI5 , 7QI6 , 8ANY , 8CSP , 8CSQ , 8CSR , 8CSS , 8CST , 8CSU , 8K2A , 8OIR , 8OIS , 8QRK , 8QRL , 8QRM , 8QRN , 8RRI , 8XT0 , 8XT2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16053	MRP-S34	61 → 187	Mitochondrial 28S ribosomal protein S34	Family

Sequence

MARKKVRPRLIAELARRVRALREQLNRPRDSQLYAVDYETLTRPFSGRRLPVRAWADVRR
ESRLLQLLGRLPLFGLGRLVTRKSWLWQHDEPCYWRLTRVRPDYTAQNLDHGKAWGILTF
KGKTESEAREIEHVMYHDWRLVPKHEEEAFTAFTPAPEDSLASVPYPPLLRAMIIAERQK
NGDTSTEEPMLNVQRIRMEPWDYPAKQEDKGRAKGTPV

Sequence length

218

Interactions

View interactions

	Reactome
			Mitochondrial translation elongation Mitochondrial translation termination

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined oxidative phosphorylation deficiency 32	Likely pathogenic; Pathogenic	rs1313473522, rs750773640, rs1131692037, rs1161932777, rs563189672, rs763672163	RCV002077366 RCV003144025 RCV000505523 RCV000505529 RCV000505515 RCV000505531 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leigh syndrome	Likely pathogenic; Pathogenic	rs1131692037, rs1161932777	RCV000494696 RCV000585740	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MRPS34-related disorder	Likely pathogenic; Pathogenic	rs1212793496	RCV003412215	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs563189672	RCV005900927	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (23)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	38013317	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	37418282	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	35841118	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	Combined Oxidative Phosphorylation Deficiency	CLINVAR_DG	28777931		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	Combined Oxidative Phosphorylation Deficiency	GENOMICS_ENGLAND_DG	28777931		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	Combined Oxidative Phosphorylation Deficiency	UNIPROT_DG	28777931		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26781422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINVAR_DG	2877793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	28777931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	28777931	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	22411789, 28777931	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33663122	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

MRPS34 (mitochondrial ribosomal protein S34)