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MRPS34 - mitochondrial ribosomal protein S34 Gene

Also Known as MRPS12; COXPD32; MRP-S12; MRP-S34

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 65993

About MRPS34

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:1,771,895-1,773,134 (from NCBI)

This gene has 3 transcripts (splice variants), 183 orthologues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 21.5), colon (RPKM 19.8) and 25 other tissues.

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

MRPS34 Products (2)

mRNA	Protein	Name
NM_001300900.2	NP_001287829.1	28S ribosomal protein S34, mitochondrial isoform 1
NM_023936.2	NP_076425.1	28S ribosomal protein S34, mitochondrial isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables structural constituent of ribosome	IMP IMP: Inferred from mutant phenotype	28777931	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial translation	IMP IMP: Inferred from mutant phenotype	28777931	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
28S ribosomal protein S34, mitochondrial	S34mt

Related Diseases

Diseases	Alias
Combined Oxidative Phosphorylation Deficiency 32	COXPD32
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Combined Oxidative Phosphorylation Deficiency
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Peripheral Neuropathy And Optic Atrophy Cmt6 Charcot-Marie-Tooth Disease Type 6 Hmsn Vi HMSN6A Hmsn Via Hmsn6 Cmt6a Charcot-Marie-Tooth Disease, Type 6 Hereditary Motor And Sensory Neuropathy Type 6 Hereditary Motor And Sensory Neuropathy Type Vi Neuropathy, Hereditary Motor And Sensory, Type 6a Neuropathy, Hereditary Motor And Sensory, Type Vi Charcot-Marie-Tooth Disease, Type 6a Hereditary Motor And Sensory Neuropathy Via Hmsn 6 Neuropathy, Hereditary Motor And Sensory, 6a, With Optic Atrophy Charcot-Marie-Tooth Disease 6 Charcot-Marie-Tooth Disease 6a Hereditary Motor And Sensory Neuropathy Type Via Hereditary Motor And Sensory Neuropathy Vi
Gm1-Gangliosidosis, Type Iii	Gm1 Gangliosidosis Type 3 GM1G3 Gangliosidosis, Generalized Gm1, Type 3 Adult-Onset Gm1 Gangliosidosis Gangliosidosis Gm1 Type 3 Gangliosidosis Generalized Gm1 Chronic Type Gangliosidosis, Generalized Gm1, Adult Type Gangliosidosis, Generalized Gm1, Chronic Type Gangliosidosis, Generalized Gm1, Type Iii Adult Gm1 Gangliosidosis Beta-Galactosidase Deficiency Type 3 Gm1-Gangliosidosis 3 Gangliosidosis Generalized Gm1 Type 3 Gm1-Gangliosidosis Generalized Adult Type Gangliosidosis, Gm1 Type Iii
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08686	MRPS34 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	MRPS34	VGNC	VGNC:43422
Rattus norvegicus	MRPS34	RGD	RGD:1305623
Bos taurus	MRPS34	VGNC	VGNC:31672
Mus musculus	MRPS34	MGD	MGI:1930188
Macaca mulatta	MRPS34	VGNC	VGNC:74776
Felis catus	MRPS34	VGNC	VGNC:63624
Others	MRPS34	NCBI