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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9512
Gene name	Peptidase, mitochondrial processing subunit beta
Gene symbol	PMPCB
Synonyms (NCBI Gene)	Beta-MPPMAS1MPP11MPPBMPPP52P-52
Chromosome	7
Chromosome location	7q22.1
Summary	This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochon

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs145596167	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs146343535	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs200188353	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1436866272	T>C,G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant

168

Show/Hide all (168)

miRTarBase ID	miRNA	Experiments	Reference
MIRT439943	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439943	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1244622	hsa-miR-1206	CLIP-seq
MIRT1244623	hsa-miR-1251	CLIP-seq
MIRT1244624	hsa-miR-1273g	CLIP-seq
MIRT1244625	hsa-miR-1298	CLIP-seq
MIRT1244626	hsa-miR-153	CLIP-seq
MIRT1244627	hsa-miR-199a-3p	CLIP-seq
MIRT1244628	hsa-miR-199b-3p	CLIP-seq
MIRT1244629	hsa-miR-205	CLIP-seq
MIRT1244630	hsa-miR-217	CLIP-seq
MIRT1244631	hsa-miR-219-2-3p	CLIP-seq
MIRT1244632	hsa-miR-2964a-3p	CLIP-seq
MIRT1244633	hsa-miR-299-3p	CLIP-seq
MIRT1244634	hsa-miR-300	CLIP-seq
MIRT1244635	hsa-miR-3065-5p	CLIP-seq
MIRT1244636	hsa-miR-3129-3p	CLIP-seq
MIRT1244637	hsa-miR-3129-5p	CLIP-seq
MIRT1244638	hsa-miR-323b-3p	CLIP-seq
MIRT1244639	hsa-miR-323b-5p	CLIP-seq
MIRT1244640	hsa-miR-340	CLIP-seq
MIRT1244641	hsa-miR-34a	CLIP-seq
MIRT1244642	hsa-miR-34c-5p	CLIP-seq
MIRT1244643	hsa-miR-3660	CLIP-seq
MIRT1244644	hsa-miR-381	CLIP-seq
MIRT1244645	hsa-miR-3927	CLIP-seq
MIRT1244646	hsa-miR-421	CLIP-seq
MIRT1244647	hsa-miR-4256	CLIP-seq
MIRT1244648	hsa-miR-4272	CLIP-seq
MIRT1244649	hsa-miR-4282	CLIP-seq
MIRT1244650	hsa-miR-4464	CLIP-seq
MIRT1244651	hsa-miR-4473	CLIP-seq
MIRT1244652	hsa-miR-4491	CLIP-seq
MIRT1244653	hsa-miR-449a	CLIP-seq
MIRT1244654	hsa-miR-449b	CLIP-seq
MIRT1244655	hsa-miR-4526	CLIP-seq
MIRT1244656	hsa-miR-4657	CLIP-seq
MIRT1244657	hsa-miR-4666-5p	CLIP-seq
MIRT1244658	hsa-miR-4680-5p	CLIP-seq
MIRT1244659	hsa-miR-4684-5p	CLIP-seq
MIRT1244660	hsa-miR-4748	CLIP-seq
MIRT1244661	hsa-miR-4762-3p	CLIP-seq
MIRT1244662	hsa-miR-4766-5p	CLIP-seq
MIRT1244663	hsa-miR-4768-5p	CLIP-seq
MIRT1244664	hsa-miR-4775	CLIP-seq
MIRT1244665	hsa-miR-512-3p	CLIP-seq
MIRT1244666	hsa-miR-520f	CLIP-seq
MIRT1244667	hsa-miR-548u	CLIP-seq
MIRT1244668	hsa-miR-579	CLIP-seq
MIRT1244669	hsa-miR-590-3p	CLIP-seq
MIRT1244670	hsa-miR-617	CLIP-seq
MIRT1244671	hsa-miR-624	CLIP-seq
MIRT1244672	hsa-miR-642b	CLIP-seq
MIRT1244622	hsa-miR-1206	CLIP-seq
MIRT2072342	hsa-miR-1262	CLIP-seq
MIRT2072343	hsa-miR-31	CLIP-seq
MIRT2072344	hsa-miR-3611	CLIP-seq
MIRT2072345	hsa-miR-3671	CLIP-seq
MIRT2072346	hsa-miR-3925-5p	CLIP-seq
MIRT2072347	hsa-miR-4453	CLIP-seq
MIRT2072348	hsa-miR-4493	CLIP-seq
MIRT2072349	hsa-miR-4499	CLIP-seq
MIRT2072350	hsa-miR-4513	CLIP-seq
MIRT2072351	hsa-miR-4538	CLIP-seq
MIRT1244657	hsa-miR-4666-5p	CLIP-seq
MIRT2072352	hsa-miR-4701-3p	CLIP-seq
MIRT2072353	hsa-miR-4760-3p	CLIP-seq
MIRT2072354	hsa-miR-513a-3p	CLIP-seq
MIRT1244668	hsa-miR-579	CLIP-seq
MIRT2072355	hsa-miR-607	CLIP-seq
MIRT2299516	hsa-miR-10a	CLIP-seq
MIRT2299517	hsa-miR-10b	CLIP-seq
MIRT2299518	hsa-miR-1296	CLIP-seq
MIRT2299519	hsa-miR-200b	CLIP-seq
MIRT2299520	hsa-miR-200c	CLIP-seq
MIRT2299521	hsa-miR-2115	CLIP-seq
MIRT2299522	hsa-miR-216a	CLIP-seq
MIRT2299523	hsa-miR-2909	CLIP-seq
MIRT2072343	hsa-miR-31	CLIP-seq
MIRT2299524	hsa-miR-3121-5p	CLIP-seq
MIRT2299525	hsa-miR-3152-5p	CLIP-seq
MIRT2299526	hsa-miR-3158-3p	CLIP-seq
MIRT2072344	hsa-miR-3611	CLIP-seq
MIRT2299527	hsa-miR-362-5p	CLIP-seq
MIRT2072345	hsa-miR-3671	CLIP-seq
MIRT2299528	hsa-miR-384	CLIP-seq
MIRT2299529	hsa-miR-3919	CLIP-seq
MIRT2072346	hsa-miR-3925-5p	CLIP-seq
MIRT2299530	hsa-miR-429	CLIP-seq
MIRT2299531	hsa-miR-4330	CLIP-seq
MIRT2299532	hsa-miR-4446-3p	CLIP-seq
MIRT2072348	hsa-miR-4493	CLIP-seq
MIRT2299533	hsa-miR-4524	CLIP-seq
MIRT2299534	hsa-miR-4725-5p	CLIP-seq
MIRT2299535	hsa-miR-4728-3p	CLIP-seq
MIRT2299536	hsa-miR-4756-3p	CLIP-seq
MIRT2299537	hsa-miR-4803	CLIP-seq
MIRT2299538	hsa-miR-488	CLIP-seq
MIRT2299539	hsa-miR-500b	CLIP-seq
MIRT2299540	hsa-miR-501-5p	CLIP-seq
MIRT2299541	hsa-miR-504	CLIP-seq
MIRT2299542	hsa-miR-516a-3p	CLIP-seq
MIRT2299543	hsa-miR-548l	CLIP-seq
MIRT1244667	hsa-miR-548u	CLIP-seq
MIRT2596226	hsa-miR-101	CLIP-seq
MIRT2596227	hsa-miR-1183	CLIP-seq
MIRT1244622	hsa-miR-1206	CLIP-seq
MIRT2596228	hsa-miR-1245	CLIP-seq
MIRT2596229	hsa-miR-1294	CLIP-seq
MIRT2596230	hsa-miR-129-5p	CLIP-seq
MIRT1244625	hsa-miR-1298	CLIP-seq
MIRT2596231	hsa-miR-144	CLIP-seq
MIRT2299519	hsa-miR-200b	CLIP-seq
MIRT2299520	hsa-miR-200c	CLIP-seq
MIRT2596232	hsa-miR-30a	CLIP-seq
MIRT2596233	hsa-miR-30b	CLIP-seq
MIRT2596234	hsa-miR-30c	CLIP-seq
MIRT2596235	hsa-miR-30d	CLIP-seq
MIRT2596236	hsa-miR-30e	CLIP-seq
MIRT2299524	hsa-miR-3121-5p	CLIP-seq
MIRT2596237	hsa-miR-3607-3p	CLIP-seq
MIRT2299527	hsa-miR-362-5p	CLIP-seq
MIRT2596238	hsa-miR-3647-3p	CLIP-seq
MIRT2072345	hsa-miR-3671	CLIP-seq
MIRT2596239	hsa-miR-3686	CLIP-seq
MIRT2596240	hsa-miR-374c	CLIP-seq
MIRT2596241	hsa-miR-3915	CLIP-seq
MIRT2596242	hsa-miR-3928	CLIP-seq
MIRT2596243	hsa-miR-4257	CLIP-seq
MIRT1244649	hsa-miR-4282	CLIP-seq
MIRT2299530	hsa-miR-429	CLIP-seq
MIRT2596244	hsa-miR-4316	CLIP-seq
MIRT2596245	hsa-miR-450b-5p	CLIP-seq
MIRT1244657	hsa-miR-4666-5p	CLIP-seq
MIRT2596246	hsa-miR-4677-3p	CLIP-seq
MIRT2596247	hsa-miR-4709-5p	CLIP-seq
MIRT2072353	hsa-miR-4760-3p	CLIP-seq
MIRT2596248	hsa-miR-4778-5p	CLIP-seq
MIRT2299538	hsa-miR-488	CLIP-seq
MIRT2299539	hsa-miR-500b	CLIP-seq
MIRT2299540	hsa-miR-501-5p	CLIP-seq
MIRT2596249	hsa-miR-507	CLIP-seq
MIRT2072354	hsa-miR-513a-3p	CLIP-seq
MIRT2299543	hsa-miR-548l	CLIP-seq
MIRT2596250	hsa-miR-557	CLIP-seq
MIRT1244668	hsa-miR-579	CLIP-seq
MIRT2596251	hsa-miR-591	CLIP-seq
MIRT2072355	hsa-miR-607	CLIP-seq
MIRT2596252	hsa-miR-655	CLIP-seq
MIRT2596226	hsa-miR-101	CLIP-seq
MIRT1244622	hsa-miR-1206	CLIP-seq
MIRT2596231	hsa-miR-144	CLIP-seq
MIRT2299524	hsa-miR-3121-5p	CLIP-seq
MIRT2299527	hsa-miR-362-5p	CLIP-seq
MIRT2072345	hsa-miR-3671	CLIP-seq
MIRT2596240	hsa-miR-374c	CLIP-seq
MIRT2596243	hsa-miR-4257	CLIP-seq
MIRT1244657	hsa-miR-4666-5p	CLIP-seq
MIRT2072353	hsa-miR-4760-3p	CLIP-seq
MIRT2299538	hsa-miR-488	CLIP-seq
MIRT2299539	hsa-miR-500b	CLIP-seq
MIRT2299540	hsa-miR-501-5p	CLIP-seq
MIRT2072354	hsa-miR-513a-3p	CLIP-seq
MIRT2299543	hsa-miR-548l	CLIP-seq
MIRT1244668	hsa-miR-579	CLIP-seq
MIRT2596251	hsa-miR-591	CLIP-seq
MIRT2072355	hsa-miR-607	CLIP-seq
MIRT2596252	hsa-miR-655	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IDA	22354088
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	TAS
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	22354088
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	32443488
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	IBA
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	IDA	22354088
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	IEA
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	NAS	32443488
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	TAS
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0017087	Component	Mitochondrial processing peptidase complex	NAS	32443488
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
603131	9119	ENSG00000105819

O75439

Protein name

Mitochondrial-processing peptidase subunit beta (EC 3.4.24.64) (Beta-MPP) (P-52)

Protein function

Catalytic subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins (Probable) (PubMed:29576218). Preferentially, cleaves after an arginine at position P2 (B

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00675	Peptidase_M16	68 → 215	Insulinase (Peptidase family M16)	Family
PF05193	Peptidase_M16_C	220 → 404	Peptidase M16 inactive domain	Domain

Sequence

MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRSTQAATQVVLNVPETRV
TCLESGLRVASEDSGLSTCTVGLWIDAGSRYENEKNNGTAHFLEHMAFKGTKKRSQLDLE
LEIENMGAHLNAYTSREQTVYYAKAFSKDLPRAVEILADIIQNSTLGEAEIERERGVILR
EMQEVETNLQEVVFDYLHATAYQNTALGRTILGPTENIKSISRKDLVDYITTHYKGPRIV
LAAAGGVSHDELLDLAKFHFGDSLCTHKGEIPALPPCKFTGSEIRVRDDKMPLAHLAIAV
EAVGWAHPDTICLMVANTLIGNWDRSFGGGMNLSSKLAQLTCHGNLCHSFQSFNTSYTDT
GLWGLYMVCESSTVADMLHVVQKEWMRLCTSVTESEVARARNLLKTNMLLQLDGSTPICE
DIGRQMLCYNRRIPIPELEARIDAVNAETIREVCTKYIYNRSPAIAAVGPIKQLPDFKQI
RSNMCWLRD

Sequence length

489

Interactions

View interactions

	Reactome
			Processing of SMDT1

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Lung cancer	Likely pathogenic	rs770951883	RCV005931128
Multiple mitochondrial dysfunctions syndrome 6	Likely pathogenic; Pathogenic	rs760746927, rs748505216, rs755105367, rs2484895567, rs145596167, rs200188353, rs1436866272, rs1461200360	RCV001837298 RCV001839095 RCV003226099 RCV003337875 RCV000626411 RCV000626413 RCV000626414 RCV000626415
PMPCB-related ataxia	Likely pathogenic	rs770951883	RCV003329563
PMPCB-related mitochondrial disorder	Likely pathogenic	rs145596167	RCV001249736

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs79606522	RCV005921958
Cervical cancer	Benign	rs79606522	RCV005921960
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs79606522	RCV005921970
Clear cell carcinoma of kidney	Benign	rs79606522, rs115306618	RCV005921962 RCV005928295
Colon adenocarcinoma	Benign	rs79606522, rs375429957	RCV005921957 RCV005869906
Colorectal cancer	Benign	rs79606522	RCV005921965
Familial pancreatic carcinoma	Benign	rs79606522	RCV005921964
Gastric cancer	Benign	rs79606522	RCV005921967
Melanoma	Benign	rs79606522	RCV005921969
Nonpapillary renal cell carcinoma	Benign	rs79606522	RCV005921959
Ovarian cancer	Benign	rs79606522	RCV005921961
Ovarian serous cystadenocarcinoma	Benign	rs79606522, rs115306618	RCV005921968 RCV005928297
PMPCB-related disorder	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	rs771831705, rs11489600, rs3087615, rs144744182, rs138251541, rs151236121, rs145949634, rs149065163, rs375429957, rs117074402, rs1005223981, rs145718159, rs2066757, rs780130591, rs376139529 View all (4 more)	RCV003963223 RCV003980809 RCV003980860 RCV003910980 RCV003976213 RCV003956407 RCV003978887 RCV003963581 RCV003963358 RCV003926514 RCV003961256 RCV003408628 RCV003901275 RCV003982741 RCV003944062 RCV003961598 RCV003958924 RCV003932011 RCV003962265
Sarcoma	Benign	rs79606522, rs115306618	RCV005921966 RCV005928296
See cases	Uncertain significance	rs776345549	RCV002252745
Uterine carcinosarcoma	Benign	rs115306618	RCV005928298
Uterine corpus endometrial carcinoma	Benign	rs115306618	RCV005928300
Uveal melanoma	Benign	rs79606522	RCV005921963

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Leigh Disease	Associate	36675121

PMPCB (peptidase, mitochondrial processing subunit beta)