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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	4285
Gene name	Mitochondrial intermediate peptidase
Gene symbol	MIPEP
Synonyms (NCBI Gene)	COXPD31HMIPMIP
Chromosome	13
Chromosome location	13q12.12
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)-

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs114638163	C>A,T	Benign, pathogenic	Stop gained, missense variant, coding sequence variant
rs143912947	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs779598020	G>C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs780533096	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518739	A>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1057518740	A>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1057518741	T>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant

Show/Hide all (14)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032395	hsa-let-7b-5p	Proteomics	18668040
MIRT2042497	hsa-miR-1179	CLIP-seq
MIRT2042498	hsa-miR-3137	CLIP-seq
MIRT2042499	hsa-miR-4528	CLIP-seq
MIRT2042500	hsa-miR-4729	CLIP-seq
MIRT2042501	hsa-miR-495	CLIP-seq
MIRT2042497	hsa-miR-1179	CLIP-seq
MIRT2042498	hsa-miR-3137	CLIP-seq
MIRT2272126	hsa-miR-3168	CLIP-seq
MIRT2272127	hsa-miR-342-3p	CLIP-seq
MIRT2042499	hsa-miR-4528	CLIP-seq
MIRT2042500	hsa-miR-4729	CLIP-seq
MIRT2042501	hsa-miR-495	CLIP-seq
MIRT2272128	hsa-miR-561	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	TAS	9073519
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	9073519
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006518	Process	Peptide metabolic process	IBA
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	IBA
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	TAS	9073519
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
602241	7104	ENSG00000027001

Q99797

Protein name

Mitochondrial intermediate peptidase (MIP) (EC 3.4.24.59)

Protein function

Cleaves proteins, imported into the mitochondrion, to their mature size.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01432	Peptidase_M3	254 → 699	Peptidase family M3	Family

Sequence

MLCVGRLGGLGARAAALPPRRAGRGSLEAGIRARRVSTSWSPVGAAFNVKPQGSRLDLFG
ERRGLFGVPELSAPEGFHIAQEKALRKTELLVDRACSTPPGPQTVLIFDELSDSLCRVAD
LADFVKIAHPEPAFREAAEEACRSIGTMVEKLNTNVDLYQSLQKLLADKKLVDSLDPETR
RVAELFMFDFEISGIHLDKEKRKRAVDLNVKILDLSSTFLMGTNFPNKIEKHLLPEHIRR
NFTSAGDHIIIDGLHAESPDDLVREAAYKIFLYPNAGQLKCLEELLSSRDLLAKLVGYST
FSHRALQGTIAKNPETVMQFLEKLSDKLSERTLKDFEMIRGMKMKLNPQNSEVMPWDPPY
YSGVIRAERYNIEPSLYCPFFSLGACMEGLNILLNRLLGISLYAEQPAKGEVWSEDVRKL
AVVHESEGLLGYIYCDFFQRADKPHQDCHFTIRGGRLKEDGDYQLPVVVLMLNLPRSSRS
SPTLLTPSMMENLFHEMGHAMHSMLGRTRYQHVTGTRCPTDFAEVPSILMEYFANDYRVV
NQFARHYQTGQPLPKNMVSRLCESKKVCAAADMQLQVFYATLDQIYHGKHPLRNSTTDIL
KETQEKFYGLPYVPNTAWQLRFSHLVGYGARYYSYLMSRAVASMVWKECFLQDPFNRAAG
ERYRREMLAHGGGREPMLMVEGMLQKCPSVDDFVSALVSDLDLDFETFLMDSE

Sequence length

713

Interactions

View interactions

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiomyopathy	Pathogenic	rs114638163	RCV000608526
Floppy infant	Pathogenic	rs114638163	RCV000608526
Left ventricular noncompaction	Pathogenic	rs114638163	RCV000608526
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	Likely pathogenic; Pathogenic	rs1869287041, rs780379456, rs114638163, rs780915621, rs2547645010, rs780533096, rs773688171, rs866158774, rs1408067328	RCV001580279 RCV002470375 RCV000412565 RCV003231014 RCV004547305 RCV000708592 RCV001797815 RCV001195538 RCV001267652

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs114147896	RCV005908544
Cervical cancer	Conflicting classifications of pathogenicity; Benign	rs557275294, rs114147896	RCV005932221 RCV005908546
Colon adenocarcinoma	Benign	rs574575253, rs114147896	RCV005869966 RCV005908543
Familial cancer of breast	Conflicting classifications of pathogenicity	rs557275294	RCV005932220
Gastric cancer	Benign	rs574575253	RCV005869967
Lung cancer	Benign	rs114147896	RCV005908549
Microcephaly	Uncertain significance	rs148780512	RCV001252880
MIPEP-related disorder	Benign; Likely benign	rs11551114, rs149856612, rs112876432, rs776733524, rs529724668, rs146834617, rs371786552, rs779977642, rs115309858, rs76516046, rs147048880, rs754023119, rs114147896	RCV003966251 RCV003951029 RCV003953893 RCV004758886 RCV003946665 RCV003979447 RCV003936870 RCV003967067 RCV003928465 RCV003967991 RCV003958024 RCV003950823 RCV003928466
Nonpapillary renal cell carcinoma	Benign	rs114147896	RCV005908545
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs372296010, rs114147896	RCV005925993 RCV005908548
Sarcoma	Likely benign; Conflicting classifications of pathogenicity; Benign	rs372296010, rs557275294, rs114147896	RCV005925992 RCV005932222 RCV005908547
Uterine corpus endometrial carcinoma	Benign	rs114147896	RCV005908550

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anemia Sickle Cell	Associate	34706496
beta Thalassemia	Associate	25842369
Death	Associate	27799064
Developmental Disabilities	Associate	27799064
Hemolysis	Associate	32563256
Isolated Noncompaction of the Ventricular Myocardium	Associate	27799064
Lung Neoplasms	Associate	31126313
Metabolic Syndrome	Associate	31739726
Muscle Hypotonia	Associate	27799064
Myopia	Associate	21640322
Polypoidal Choroidal Vasculopathy	Associate	27799064
Vasculopathy Retinal With Cerebral Leukodystrophy	Associate	32563256

MIPEP (mitochondrial intermediate peptidase)