MIPEP - mitochondrial intermediate peptidase Gene

Also Known as MIP; HMIP; COXPD31

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4285

About MIPEP

Cytogenetic location: 13q12.12 Genomic coordinates (GRCh38): 13:23,730,189-23,889,400 (from NCBI)

This gene has 5 transcripts (splice variants), 215 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 8.2), skin (RPKM 7.7) and 25 other tissues.

Summary

The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of Oxidative Phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia. [provided by RefSeq, Jul 2008]

MIPEP Products (1)

mRNA	Protein	Name
NM_005932.4	NP_005923.3	mitochondrial intermediate peptidase

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	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

MIPEP Protein Structure

Peptidase_M3

0
200
400
600
713 a.a.

Protein Preferred Names	Protein Names
mitochondrial intermediate peptidase

MIPEP Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MIPEP	Q99797	INA	Homo sapiens	Q16352	Anti Tag CoIP	33961781
Intra	MIPEP	Q99797	INA	Homo sapiens	Q16352	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Combined Oxidative Phosphorylation Deficiency 31	Lethal Left Ventricular Non-Compaction-Seizures-Hypotonia-Cataract-Developmental Delay Syndrome COXPD31
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Friedreich Ataxia	Friedreich Ataxia 1 FRDA Friedreich Ataxia With Retained Reflexes Frda1 Fa Friedreich'S Ataxia Hereditary Spinal Ataxia Fa1 Friedreich'S Tabes Hereditary Spinal Sclerosis Spinocerebellar Ataxia, Friedreich Friedreich Spinocerebellar Ataxia Friedrich'S Ataxia
Myasthenic Syndrome, Congenital, 1a, Slow-Channel	Congenital Myasthenic Syndrome 1a Congenital Myasthenic Syndrome 2a CMS1A Cms Iia Congenital Myasthenic Syndrome Type Iia Cms2a Myasthenic Syndrome, Congenital, Type Iia, Formerly Cms2a, Formerly Cms Iia, Formerly Congenital Myasthenic Syndrome 1a, Slow-Channel Congenital Myasthenic Syndrome 2a Slow-Channel Congenital Myasthenic Syndrome Post-Synaptic Slow-Channel Myasthenic Syndrome, Congenital, Slow-Channel Sccms Myasthenic Syndrome, Congenital, Type 1a, Slow-Channel Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel Myasthenic Syndromes, Congenital, Slow Channel
Hyperekplexia 1	HKPX1 Exaggerated Startle Reaction Sthe Stiff-Baby Syndrome Kok Disease Startle Disease, Familial Startle Reaction, Exaggerated Stiff-Man Syndrome, Congenital Stiff-Person Syndrome, Congenital Congenital Stiff-Man Syndrome Congenital Stiff-Person Syndrome Familial Startle Disease Hereditary Hyperexplexia 1 Hyperekplexia Hereditary 1 Autosomal Dominant Or Recessive Hyperekplexia Hereditary Hyperexplexia Stiff-Person Syndrome
Nephronophthisis-Like Nephropathy 1	NPHPL1 Nephronophthisis-Like Nephropathy, Type 1
Treacher Collins Syndrome 3	TCS3 Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive Mandibulofacial Dysostosis Treacher Collins Type Autosomal Recessive
Combined Oxidative Phosphorylation Deficiency
Pitt-Hopkins-Like Syndrome 2	PTHSL2 Mesh D006985 Mesh D008607
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	SMDMDM Autosomal Recessive Spondylometaphyseal Dysplasia, Megarbane Type Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type Spondylometaphyseal Dysplasia Megarbane-Dagher-Melike Type Chondrodysplasia, Megarbane-Dagher-Melki Type Megarbane-Dagher-Melike Type Chondrodysplasia Chondrodysplasia, Megarbane-Dagher-Melike Type Dysplasia, Spondylometaphyseal, Megarbane-Dagher-Melike Type
Hypotonia
Sickle Cell Anemia	Hemoglobin Sc Disease Anemia, Sickle Cell Hbsc Disease Sickle Cell-Hemoglobin C Disease Syndrome Hb Ss Disease Sickle Cell Trait Drepanocytosis Haemoglobin Sc Disease Hb Sc Disease Hb-S/Hb-C Disease Hb-Ss Disease Without Crisis Hemoglobin S Disease Without Crisis Sickle Cell Anaemia Sickle-Cell/Hb-C Disease Without Crisis Sickle Cell - Hemoglobin C Disease Hbs Disease Hemoglobin S Disease Sickling Disorder Due To Hemoglobin S SKCA Sickle Cell Disease Sickle Cell-Hemoglobin C Disease Sickle-Cell Disease Carrier Sickle-Cell Heterozygous Disorder Haemoglobin A-S Genotype Hb-S - [Sickle Cell Haemoglobin] Carrier Sickle Cell Haemoglobin Trait As - [Sickle Cell Trait] Hbas - [Sickle Cell Haemoglobin Trait] Sickle-Cell Trait Haemoglobin Disease Haemoglobin Sickle Cell Trait Disorder Heterozygous Sickle Cell Trait Hbas - [Heterozygous Haemoglobin S]
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Fetal Hemoglobin Quantitative Trait Locus 1	Hereditary Persistence Of Fetal Hemoglobin Delta-Beta-Thalassemia Delta-Beta Thalassemia Delta Beta-Thalassemia HBFQTL1 Hemoglobin F, Hereditary Persistence Of Hpfh Hereditary Persistence Of Fetal Hemoglobin, Hb Gene Cluster-Related Hemoglobin, Fetal, Quantitative Trait Locus 1 Hereditary Persistence Of Fetal Hemoglobin Thalassemia Hpfh - [Hereditary Persistence Of Fetal Haemoglobin] Fetal Haemoglobin Persistence Of Fetal Haemoglobin Persistent Haemoglobin F
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Hemoglobinopathy	Hemoglobinopathies

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08461	MIPEP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22639	Mipep Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29154	Mipep Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	MIPEP	VGNC	VGNC:43242
Felis catus	MIPEP	VGNC	VGNC:68260
Mus musculus	MIPEP	MGD	MGI:1917728
Bos taurus	MIPEP	VGNC	VGNC:31483
Macaca mulatta	MIPEP	VGNC	VGNC:74873
Rattus norvegicus	MIPEP	RGD	RGD:621680
Others	MIPEP	NCBI