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MRPL12 - mitochondrial ribosomal protein L12 Gene

Also Known as 5c5-2; L12mt; MRPL7; RPML12; MRPL7/L12; MRP-L31/34

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6182

About MRPL12

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:81,703,367-81,707,517 (from NCBI)

This gene has 1 transcript (splice variant), 182 orthologues and is associated with 1 phenotype. Ubiquitous expression in colon (RPKM 31.4), heart (RPKM 25.0) 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 39S subunit protein which forms homodimers. In prokaryotic ribosomes, two L7/L12 dimers and one L10 protein form the L8 protein complex. [provided by RefSeq, Jul 2008]

MRPL12 Products (1)

mRNA	Protein	Name
NM_002949.4	NP_002940.2	39S ribosomal protein L12, mitochondrial

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17337445	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial transcription	IDA IDA: Inferred from direct assay	17337445	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	17337445	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of mitochondrial large ribosomal subunit	IDA IDA: Inferred from direct assay	20186120	GOA
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	27184847	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	17337445	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

MRPL12 Protein Structure

Ribosomal_L12

0
100
198 a.a.

Protein Preferred Names	Protein Names
39S ribosomal protein L12, mitochondrial	MRP-L12

MRPL12 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MRPL12	P52815	TRIM59	Homo sapiens	Q8IWR1	Validated Y2H	32296183
Intra	MRPL12	P52815	MORF4L1	Homo sapiens	Q9UBU8-2	Validated Y2H	32296183
Intra	MRPL12	P52815	NTM	Homo sapiens	Q9P121-3	Validated Y2H	32296183
Intra	MRPL12	P52815	EFCAB2	Homo sapiens	Q5VUJ9-2	Validated Y2H	32296183
Intra	MRPL12	P52815	EXOC3L2	Homo sapiens	Q2M3D2	Validated Y2H	32296183
Intra	MRPL12	P52815	POLRMT	Homo sapiens	O00411	Anti Tag CoIP	28514442
Intra	MRPL12	P52815	POLRMT	Homo sapiens	O00411	Anti Tag CoIP	22003127
Intra	MRPL12	P52815	POLRMT	Homo sapiens	O00411	Anti Bait CoIP	22003127
Intra	MRPL12	P52815	POLRMT	Homo sapiens	O00411	Anti Tag CoIP	33961781
Intra	MRPL12	P52815	MORF4L2	Homo sapiens	Q15014	Validated Y2H	32296183
Intra	MRPL12	P52815	SEPTIN1	Homo sapiens	Q8WYJ6	Validated Y2H	32296183
Intra	MRPL12	P52815	PPP1R16A	Homo sapiens	Q96I34	Validated Y2H	32296183
Intra	MRPL12	P52815	MAPRE3	Homo sapiens	Q9UPY8	Validated Y2H	32296183
Intra	MRPL12	P52815	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	32296183
Intra	MRPL12	P52815	CBX3	Homo sapiens	Q13185	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

MRPL12 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810920	MRPL12 Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Combined Oxidative Phosphorylation Deficiency 45	COXPD45
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
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency Cox Deficiency Cytochrome-C Oxidase Deficiency Disease MC1DN4 Cytochrome-C Oxidase Deficiency MC4DN1 Mitochondrial Complex I Deficiency, Nuclear Type 4 Complex 4 Mitochondrial Respiratory Chain Deficiency Complex Iv Deficiency Mitochondrial Complex 1 Deficiency, Nuclear Type 4 Nuclear Type Mitochondrial Complex I Deficiency 4 Deficiency Of Mitochondrial Respiratory Chain Complex4 MT-C4D Complex Iv Mitochondrial Respiratory Chain Deficiency Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency, Nuclear, Type 1
Perrault Syndrome	Gonadal Dysgenesis, Xx Type, With Deafness Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis, Xx Type Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance Xx Gonodal Dysgenesis-Deafness Syndrome Xx Gonodal Dysgenesis-Hearing Loss Syndrome Gonadal Dysgenesis Xx Type Deafness
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

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-RS08663	MRPL12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MRPL12	RGD	RGD:1588559
Mus musculus	MRPL12	MGD	MGI:1926273
Bos taurus	MRPL12	VGNC	VGNC:106827
Others	MRPL12	NCBI