PMPCB
entrez
9512
canonical
uniprot
O75439
canonical
ensembl
ENSG00000105819
resolver
ensp
ENSP00000249269
resolver
ensp
ENSP00000390035
resolver
ensp
ENSP00000516381
resolver
ensp
ENSP00000516384
resolver
ensp
ENSP00000516386
resolver
ensp
ENSP00000516390
resolver
ensp
ENSP00000516391
resolver
ensp
ENSP00000516392
resolver
ensp
ENSP00000570099
resolver
ensp
ENSP00000728785
resolver
ensp
ENSP00000798251
resolver
enst
ENST00000249269
resolver
enst
ENST00000428154
resolver
enst
ENST00000706439
resolver
enst
ENST00000706443
resolver
enst
ENST00000706448
resolver
enst
ENST00000706452
resolver
enst
ENST00000706453
resolver
enst
ENST00000706454
resolver
enst
ENST00000900040
resolver
genesymbol
PMPCB
resolver
genesymbol_syn
MPPB
resolver
hgnc
HGNC:9119
resolver
uniprot
A0A9L9PXG6
resolver
uniprot
A0A9L9PXH0
resolver
uniprot
A0A9L9PXI7
resolver
uniprot
B3KM34
resolver
uniprot
G3V0E4
resolver
uniprot
O60416
resolver
uniprot
Q96CP5
resolver
uniprot
Q96FV4
resolver
uniprot_entry
A0A9L9PXG6_HUMAN
resolver
uniprot_entry
A0A9L9PXH0_HUMAN
resolver
uniprot_entry
A0A9L9PXI7_HUMAN
resolver
uniprot_entry
B3KM34_HUMAN
resolver
uniprot_entry
G3V0E4_HUMAN
resolver
uniprot_entry
MPPB_HUMAN
resolver
uniprot_entry
Q96CP5_HUMAN
resolver
uniprot_sec
O60416
resolver
uniprot_sec
Q96FV4
resolver
activity_regulation
ACTIVITY REGULATION: Binding to PMPCA is required for catalytic activity. {ECO:0000250|UniProtKB:P10507}.
uniprot
proteins
amino_acid_sequence
MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRSTQAATQVVLNVPETRVTCLESGLRVASEDSGLSTCTVGLWIDAGSRYENEKNNGTAHFLEHMAFKGTKKRSQLDLELEIENMGAHLNAYTSREQTVYYAKAFSKDLPRAVEILADIIQNSTLGEAEIERERGVILREMQEVETNLQEVVFDYLHATAYQNTALGRTILGPTENIKSISRKDLVDYITTHYKGPRIVLAAAGGVSHDELLDLAKFHFGDSLCTHKGEIPALPPCKFTGSEIRVRDDKMPLAHLAIAVEAVGWAHPDTICLMVANTLIGNWDRSFGGGMNLSSKLAQLTCHGNLCHSFQSFNTSYTDTGLWGLYMVCESSTVADMLHVVQKEWMRLCTSVTESEVARARNLLKTNMLLQLDGSTPICEDIGRQMLCYNRRIPIPELEARIDAVNAETIREVCTKYIYNRSPAIAAVGPIKQLPDFKQIRSNMCWLRD
uniprot
proteins
disease_involvement
DISEASE: Multiple mitochondrial dysfunctions syndrome 6 (MMDS6) [MIM:617954]: An autosomal recessive, neurodegenerative disorder characterized by basal ganglia lesions, cerebellar atrophy, and neurologic regression in the first year of life. Common features include truncal hypotonia, lack of independent ambulation, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity. {ECO:0000269|PubMed:29576218}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.24.64
uniprot
proteins
function
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 (By similarity). Required for PINK1 turnover by coupling PINK1 mitochondrial import and cleavage, which results in subsequent PINK1 proteolysis (PubMed:22354088). {ECO:0000250|UniProtKB:Q03346, ECO:0000269|PubMed:22354088, ECO:0000269|PubMed:29576218, ECO:0000305|PubMed:22354088}.
uniprot
proteins
mass_dalton
54366
uniprot
proteins
protein_family
Peptidase M16 family
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
19892738
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22354088
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29576218
uniprot
proteins
pubmed
9653160
uniprot
proteins
sequence_length
489
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:22354088}.
uniprot
proteins