Gene: Pmpca

Basic information

Tag Content
Uniprot ID Q9DC61; Q3TF19;
Entrez ID 66865
Genbank protein ID BAB23363.1; BAE41094.1; BAE27682.1; AAH10810.1; BAE41079.1;
Genbank nucleotide ID NM_173180.3
Ensembl protein ID ENSMUSP00000075762
Ensembl nucleotide ID ENSMUSG00000026926
Gene name Mitochondrial-processing peptidase subunit alpha
Gene symbol Pmpca
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 19668215
Functional description Substrate recognition and binding subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins.
Sequence
MATAVWAAAR LLRGSAVLCA RPRFGSPAHR RFSSGATYPN IPLSSPLPGV PKPIFATVDG 60
QEKFETKVTT LDNGLRVASQ NKFGQFCTVG ILINSGSRYE AKYLSGIAHF LEKLAFSSTA 120
RFDSKDEILL TLEKHGGICD CQTSRDTTMY AVSADSKGLD TVVDLLADVV LHPRLTDEEI 180
EMTRMAVQFE LEDLNMRPDP EPLLTEMIHE AAFRENTVGL HRFCPVENIA KIDREVLHSY 240
LKNYYTPDRM VLAGVGVEHE HLVECARKYL VGAEPAWGAP GTVDVDRSVA QYTGGIIKVE 300
RDMSNVSLGP TPIPELTHIM VGLESCSFLE DDFIPFAVLN MMMGGGGSFS AGGPGKGMFS 360
RLYLNVLNRH HWMYNATSYH HSYEDTGLLC IHASADPRQV REMVEIITKE FILMGRTVDL 420
VELERAKTQL MSMLMMNLES RPVIFEDVGR QVLATHSRKL PHELCTLIRN VKPEDIKRVA 480
SKMLRGKPAV AALGDLTDLP TYEHIQAALS SRNGHLPRSY RLFR 524

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologPMPCA767847Q0P5M8Bos taurusPredictionMore>>
1:1 orthologPMPCA480677F1PF09Canis lupus familiarisPredictionMore>>
1:1 orthologPMPCA102171796A0A452EEL9Capra hircusPredictionMore>>
1:1 orthologPMPCA23203Q10713Homo sapiensPredictionMore>>
1:1 orthologPmpca66865Q9DC61CPOMus musculusPublicationMore>>
1:1 orthologPMPCAH2QY64Pan troglodytesPredictionMore>>
1:1 orthologPMPCAA0A5G2Q8L1Sus scrofaPredictionMore>>
1:1 orthologPmpca296588Q68FX8Rattus norvegicusPredictionMore>>
1:1 orthologpmpcaA0A0R4IFK9Danio rerioPredictionMore>>

Other genetic variants/mutations

loading...

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0004175 endopeptidase activityISO
GO:0004222 metalloendopeptidase activityIEA
GO:0046872 metal ion bindingIEA
GO:0004175 endopeptidase activityIBA
GO:0008237 metallopeptidase activityISO

GO:Biological Process

GO ID GO Term Evidence
GO:0006508 proteolysisISO
GO:0006627 protein processing involved in protein targeting to mitochondrionISS
GO:0006627 protein processing involved in protein targeting to mitochondrionISO
GO:0006627 protein processing involved in protein targeting to mitochondrionIBA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005739 mitochondrionISO
GO:0005739 mitochondrionHDA
GO:0005739 mitochondrionIBA
GO:0005743 mitochondrial inner membraneISS
GO:0005743 mitochondrial inner membraneISO
GO:0005743 mitochondrial inner membraneIBA
GO:0017087 mitochondrial processing peptidase complexIBA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-382551 Transport of small moleculesIEA
R-MMU-8949215 Mitochondrial calcium ion transportIEA
R-MMU-8949664 Processing of SMDT1IEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0007 Acetylation
KW-0903 Direct protein sequencing
KW-0472 Membrane
KW-0496 Mitochondrion
KW-0999 Mitochondrion inner membrane
KW-1185 Reference proteome
KW-0809 Transit peptide

Interpro

InterPro ID InterPro Term
IPR011249 Metalloenz_LuxS/M16
IPR011765 Pept_M16_N
IPR001431 Pept_M16_Zn_BS
IPR007863 Peptidase_M16_C
IPR037715 PMPCA

PROSITE

PROSITE ID PROSITE Term
PS00143 INSULINASE

Pfam

Pfam ID Pfam Term
PF00675 Peptidase_M16
PF05193 Peptidase_M16_C

Protein-protein interaction