MRPS34 - mitochondrial ribosomal protein S34 Gene

Homo sapiens

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

Gene ID: 65993 | Gene type: protein coding

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	Reference	Source
enables structural constituent of ribosome	IMP IMP: Inferred from mutant phenotype	28777931	GOA

Biological Process GO Annotation	Evidence	Reference	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

Bioactive Molecules (1)

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

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