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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10531
Gene name	Pitrilysin metallopeptidase 1
Gene symbol	PITRM1
Synonyms (NCBI Gene)	MP1PrePSCAR30
Chromosome	10
Chromosome location	10p15.2
Summary	The protein encoded by this gene is an ATP-dependent metalloprotease that degrades post-cleavage mitochondrial transit peptides. The encoded protein binds zinc and can also degrade amyloid beta A4 protein, suggesting a possible role in Alzheimer`s disease

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Show/Hide all (126)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049603	hsa-miR-92a-3p	CLASH	23622248
MIRT041475	hsa-miR-193b-3p	CLASH	23622248
MIRT038903	hsa-miR-93-3p	CLASH	23622248
MIRT037980	hsa-miR-502-3p	CLASH	23622248
MIRT035886	hsa-miR-1303	CLASH	23622248
MIRT439966	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439966	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1236965	hsa-let-7a	CLIP-seq
MIRT1236966	hsa-let-7b	CLIP-seq
MIRT1236967	hsa-let-7c	CLIP-seq
MIRT1236968	hsa-let-7d	CLIP-seq
MIRT1236969	hsa-let-7e	CLIP-seq
MIRT1236970	hsa-let-7f	CLIP-seq
MIRT1236971	hsa-let-7g	CLIP-seq
MIRT1236972	hsa-let-7i	CLIP-seq
MIRT1236973	hsa-miR-1236	CLIP-seq
MIRT1236974	hsa-miR-1343	CLIP-seq
MIRT1236975	hsa-miR-202	CLIP-seq
MIRT1236976	hsa-miR-3609	CLIP-seq
MIRT1236977	hsa-miR-3647-3p	CLIP-seq
MIRT1236978	hsa-miR-4458	CLIP-seq
MIRT1236979	hsa-miR-4500	CLIP-seq
MIRT1236980	hsa-miR-4639-3p	CLIP-seq
MIRT1236981	hsa-miR-4662a-3p	CLIP-seq
MIRT1236982	hsa-miR-4712-5p	CLIP-seq
MIRT1236983	hsa-miR-4722-3p	CLIP-seq
MIRT1236984	hsa-miR-4760-5p	CLIP-seq
MIRT1236985	hsa-miR-4763-5p	CLIP-seq
MIRT1236986	hsa-miR-4777-5p	CLIP-seq
MIRT1236987	hsa-miR-4802-3p	CLIP-seq
MIRT1236988	hsa-miR-518d-5p	CLIP-seq
MIRT1236989	hsa-miR-519b-5p	CLIP-seq
MIRT1236990	hsa-miR-519c-5p	CLIP-seq
MIRT1236991	hsa-miR-520c-5p	CLIP-seq
MIRT1236992	hsa-miR-520d-5p	CLIP-seq
MIRT1236993	hsa-miR-520g	CLIP-seq
MIRT1236994	hsa-miR-520h	CLIP-seq
MIRT1236995	hsa-miR-524-5p	CLIP-seq
MIRT1236996	hsa-miR-526a	CLIP-seq
MIRT1236997	hsa-miR-548ad	CLIP-seq
MIRT1236998	hsa-miR-548ah	CLIP-seq
MIRT1236999	hsa-miR-596	CLIP-seq
MIRT1237000	hsa-miR-668	CLIP-seq
MIRT1237001	hsa-miR-770-5p	CLIP-seq
MIRT1237002	hsa-miR-98	CLIP-seq
MIRT1236965	hsa-let-7a	CLIP-seq
MIRT1236966	hsa-let-7b	CLIP-seq
MIRT1236967	hsa-let-7c	CLIP-seq
MIRT1236968	hsa-let-7d	CLIP-seq
MIRT1236969	hsa-let-7e	CLIP-seq
MIRT1236970	hsa-let-7f	CLIP-seq
MIRT1236971	hsa-let-7g	CLIP-seq
MIRT1236972	hsa-let-7i	CLIP-seq
MIRT1236975	hsa-miR-202	CLIP-seq
MIRT1236978	hsa-miR-4458	CLIP-seq
MIRT1236979	hsa-miR-4500	CLIP-seq
MIRT1236986	hsa-miR-4777-5p	CLIP-seq
MIRT1236988	hsa-miR-518d-5p	CLIP-seq
MIRT1236989	hsa-miR-519b-5p	CLIP-seq
MIRT1236990	hsa-miR-519c-5p	CLIP-seq
MIRT1236991	hsa-miR-520c-5p	CLIP-seq
MIRT1236996	hsa-miR-526a	CLIP-seq
MIRT1236997	hsa-miR-548ad	CLIP-seq
MIRT1237002	hsa-miR-98	CLIP-seq
MIRT1236965	hsa-let-7a	CLIP-seq
MIRT1236966	hsa-let-7b	CLIP-seq
MIRT1236967	hsa-let-7c	CLIP-seq
MIRT1236968	hsa-let-7d	CLIP-seq
MIRT1236969	hsa-let-7e	CLIP-seq
MIRT1236970	hsa-let-7f	CLIP-seq
MIRT1236971	hsa-let-7g	CLIP-seq
MIRT1236972	hsa-let-7i	CLIP-seq
MIRT1236973	hsa-miR-1236	CLIP-seq
MIRT2069703	hsa-miR-1273	CLIP-seq
MIRT2069704	hsa-miR-1279	CLIP-seq
MIRT1236974	hsa-miR-1343	CLIP-seq
MIRT1236975	hsa-miR-202	CLIP-seq
MIRT2069705	hsa-miR-3148	CLIP-seq
MIRT2069706	hsa-miR-3158-3p	CLIP-seq
MIRT1236976	hsa-miR-3609	CLIP-seq
MIRT2069707	hsa-miR-3689d	CLIP-seq
MIRT2069708	hsa-miR-3978	CLIP-seq
MIRT2069709	hsa-miR-432	CLIP-seq
MIRT1236978	hsa-miR-4458	CLIP-seq
MIRT1236979	hsa-miR-4500	CLIP-seq
MIRT1236980	hsa-miR-4639-3p	CLIP-seq
MIRT1236981	hsa-miR-4662a-3p	CLIP-seq
MIRT1236982	hsa-miR-4712-5p	CLIP-seq
MIRT1236983	hsa-miR-4722-3p	CLIP-seq
MIRT1236985	hsa-miR-4763-5p	CLIP-seq
MIRT1236986	hsa-miR-4777-5p	CLIP-seq
MIRT1236988	hsa-miR-518d-5p	CLIP-seq
MIRT1236989	hsa-miR-519b-5p	CLIP-seq
MIRT1236990	hsa-miR-519c-5p	CLIP-seq
MIRT1236991	hsa-miR-520c-5p	CLIP-seq
MIRT1236992	hsa-miR-520d-5p	CLIP-seq
MIRT1236993	hsa-miR-520g	CLIP-seq
MIRT1236994	hsa-miR-520h	CLIP-seq
MIRT1236995	hsa-miR-524-5p	CLIP-seq
MIRT1236996	hsa-miR-526a	CLIP-seq
MIRT1236997	hsa-miR-548ad	CLIP-seq
MIRT1236998	hsa-miR-548ah	CLIP-seq
MIRT1236999	hsa-miR-596	CLIP-seq
MIRT1237000	hsa-miR-668	CLIP-seq
MIRT1237001	hsa-miR-770-5p	CLIP-seq
MIRT1237002	hsa-miR-98	CLIP-seq
MIRT1236965	hsa-let-7a	CLIP-seq
MIRT1236966	hsa-let-7b	CLIP-seq
MIRT1236967	hsa-let-7c	CLIP-seq
MIRT1236968	hsa-let-7d	CLIP-seq
MIRT1236969	hsa-let-7e	CLIP-seq
MIRT1236970	hsa-let-7f	CLIP-seq
MIRT1236971	hsa-let-7g	CLIP-seq
MIRT1236972	hsa-let-7i	CLIP-seq
MIRT1236975	hsa-miR-202	CLIP-seq
MIRT1236978	hsa-miR-4458	CLIP-seq
MIRT1236979	hsa-miR-4500	CLIP-seq
MIRT1236986	hsa-miR-4777-5p	CLIP-seq
MIRT1236988	hsa-miR-518d-5p	CLIP-seq
MIRT1236989	hsa-miR-519b-5p	CLIP-seq
MIRT1236990	hsa-miR-519c-5p	CLIP-seq
MIRT1236991	hsa-miR-520c-5p	CLIP-seq
MIRT1236996	hsa-miR-526a	CLIP-seq
MIRT1236997	hsa-miR-548ad	CLIP-seq
MIRT1236999	hsa-miR-596	CLIP-seq
MIRT1237002	hsa-miR-98	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IDA	10360838, 19196155
GO:0004222	Function	Metalloendopeptidase activity	IMP	16849325, 24931469
GO:0005515	Function	Protein binding	IPI	24931469
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0005759	Component	Mitochondrial matrix	IDA	16849325, 19196155
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006508	Process	Proteolysis	IDA	10360838, 19196155
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IMP	16849325, 24931469
GO:0006626	Process	Protein targeting to mitochondrion	TAS
GO:0008047	Function	Enzyme activator activity	TAS	9733512
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	EXP	19962426, 26697887
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IDA	24931469
GO:0016485	Process	Protein processing	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
618211	17663	ENSG00000107959

Q5JRX3

Protein name

Presequence protease, mitochondrial (hPreP) (EC 3.4.24.-) (Pitrilysin metalloproteinase 1) (Metalloprotease 1) (hMP1)

Protein function

Metalloendopeptidase of the mitochondrial matrix that functions in peptide cleavage and degradation rather than in protein processing (PubMed:10360838, PubMed:16849325, PubMed:19196155, PubMed:24931469). Has an ATP-independent activity (PubMed:1

PDB

4L3T , 4NGE , 4RPU , 6XOS , 6XOT , 6XOU , 6XOV , 6XOW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00675	Peptidase_M16	93 → 189	Insulinase (Peptidase family M16)	Family
PF05193	Peptidase_M16_C	244 → 431	Peptidase M16 inactive domain	Domain
PF08367	M16C_assoc	504 → 752	Peptidase M16C associated	Family
PF05193	Peptidase_M16_C	768 → 959	Peptidase M16 inactive domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in muscle and heart compared to brain, pancreas, liver, lung and placenta. {ECO:0000269|PubMed:10360838}.

Sequence

MWRCGGRQGLCVLRRLSGGHAHHRAWRWNSNRACERALQYKLGDKIHGFTVNQVTSVPEL
FLTAVKLTHDDTGARYLHLAREDTNNLFSVQFRTTPMDSTGVPHILEHTVLCGSQKYPCR
DPFFKMLNRSLSTFMNAFTASDYTLYPFSTQNPKDFQNLLSVYLDATFFPCLRELDFWQE
GWRLEHENPSDPQTPLVFKGVVFNEMKGAFTDNERIFSQHLQNRLLPDHTYSVVSGGDPL
CIPELTWEQLKQFHATHYHPSNARFFTYGNFPLEQHLKQIHEEALSKFQKIEPSTVVPAQ
TPWDKPREFQITCGPDSFATDPSKQTTISVSFLLPDITDTFEAFTLSLLSSLLTSGPNSP
FYKALIESGLGTDFSPDVGYNGYTREAYFSVGLQGIAEKDIETVRSLIDRTIDEVVEKGF
EDDRIEALLHKIEIQMKHQSTSFGLMLTSYIASCWNHDGDPVELLKLGNQLAKFRQCLQE
NPKFLQEKVKQYFKNNQHKLTLSMRPDDKYHEKQAQVEATKLKQKVEALSPGDRQQIYEK
GLELRSQQSKPQDASCLPALKVSDIEPTIPVTELDVVLTAGDIPVQYCAQPTNGMVYFRA
FSSLNTLPEELRPYVPLFCSVLTKLGCGLLDYREQAQQIELKTGGMSASPHVLPDDSHMD
TYEQGVLFSSLCLDRNLPDMMQLWSEIFNNPCFEEEEHFKVLVKMTAQELANGIPDSGHL
YASIRAGRTLTPAGDLQETFSGMDQVRLMKRIAEMTDIKPILRKLPRIKKHLLNGDNMRC
SVNATPQQMPQTEKAVEDFLRSIGRSKKERRPVRPHTVEKPVPSSSGGDAHVPHGSQVIR
KLVMEPTFKPWQMKTHFLMPFPVNYVGECIRTVPYTDPDHASLKILARLMTAKFLHTEIR
EKGGAYGGGAKLSHNGIFTLYSYRDPNTIETLQSFGKAVDWAKSGKFTQQDIDEAKLSVF
STVDAPVAPSDKGMDHFLYGLSDEMKQAHREQLFAVSHDKLLAVSDRYLGTGKSTHGLAI
LGPENPKIAKDPSWIIQ

Sequence length

1037

Interactions

View interactions

	Reactome
			Mitochondrial protein import

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Infantile onset spinocerebellar ataxia	Pathogenic	rs2132393459	RCV001449674
Spinocerebellar ataxia, autosomal recessive 30	Pathogenic	rs1249144069, rs187308159	RCV001530971 RCV001530972

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Benign	rs4242748, rs34837384	RCV005925853 RCV005904867
Adrenocortical carcinoma, hereditary	Benign	rs60985673	RCV005870995
Cervical cancer	Benign	rs34837384	RCV005904868
Cholangiocarcinoma	Likely benign; Benign	rs4242748, rs60985673	RCV005925858 RCV005871000
Clear cell carcinoma of kidney	Likely benign	rs140801573	RCV005930549
Colon adenocarcinoma	Benign	rs34837384	RCV005904866
Familial cancer of breast	Likely benign; Uncertain significance	rs4242748, rs200811251	RCV005925852 RCV005936665
Gastric cancer	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	rs190434719, rs4242748, rs200811251, rs548760819, rs60985673	RCV005925615 RCV005925856 RCV005936666 RCV005904568 RCV005870998
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs190434719	RCV005925612
Irido-corneo-trabecular dysgenesis	Likely benign	rs869025266	RCV000207431
Lung cancer	Benign	rs60985673	RCV005871001
Malignant lymphoma, large B-cell, diffuse	Benign	rs60985673	RCV005870997
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs190434719	RCV005925613
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	rs190434719, rs200811251	RCV005925616 RCV005936667
PITRM1-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs2388556, rs17849904, rs3814596, rs10175, rs201227300, rs59654932, rs41305673, rs9423502, rs1127047, rs11818724, rs35779348, rs45600442, rs192085127, rs12248937, rs73579025 View all (18 more)	RCV003976139 RCV003970936 RCV003978727 RCV003978728 RCV003913540 RCV003978904 RCV003978773 RCV003970869 RCV003978530 RCV003978589 RCV003971040 RCV003978828 RCV003946327 RCV003936353 RCV003973614 RCV003936729 RCV003419175 RCV003919090 RCV003929831 RCV003931990 RCV003934200 RCV003928319 RCV003978267 RCV003925876 RCV003925877 RCV003905891 RCV003906038 RCV003928542 RCV003910485 RCV003910525 RCV003930487 RCV003978174 RCV003918567
Sarcoma	Likely benign; Benign	rs4242748, rs34837384	RCV005925855 RCV005904869
Uterine carcinosarcoma	Likely benign; Benign	rs4242748, rs60985673	RCV005925857 RCV005870999
Uterine corpus endometrial carcinoma	Likely benign	rs4242748	RCV005925859
Uveal melanoma	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	rs190434719, rs4242748, rs368479367, rs60985673	RCV005925614 RCV005925854 RCV005926738 RCV005870996

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Cerebellar Diseases	Associate	29764912
Charcot Marie Tooth Disease	Associate	29383861
Drug Related Side Effects and Adverse Reactions	Associate	36190452
Episodic Ataxia	Associate	29764912
Glioma	Associate	32857715
Hypoxia	Inhibit	32857715
Macular Degeneration	Associate	27225020
Mental Retardation Autosomal Dominant 1	Associate	29383861
Nervous System Diseases	Associate	29383861
Scotoma	Associate	21303544
Spinocerebellar Ataxias	Associate	29764912

PITRM1 (pitrilysin metallopeptidase 1)