| Tag | Content |
|---|---|
| Uniprot ID | Q10713; B4DKL3; E7ET61; Q16639; Q5SXM9; Q8N513; |
| Entrez ID | 23203 |
| Genbank protein ID | AAI11400.1; AAI32725.1; EAW88232.1; AAH33103.2; BAA09472.2; AAH22949.1; BAG59225.1; AAI36600.1; BAA04643.1; |
| Genbank nucleotide ID | NM_001282944.1; NM_015160.2; NM_001282946.1; |
| Ensembl protein ID | ENSP00000360782; ENSP00000416702; |
| Ensembl nucleotide ID | ENSG00000165688 |
| Gene name | Mitochondrial-processing peptidase subunit alpha |
| Gene symbol | PMPCA |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| 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 | MAAVVLAATR LLRGSGSWGC SRLRFGPPAY RRFSSGGAYP NIPLSSPLPG VPKPVFATVD 60 GQEKFETKVT TLDNGLRVAS QNKFGQFCTV GILINSGSRY EAKYLSGIAH FLEKLAFSST 120 ARFDSKDEIL LTLEKHGGIC DCQTSRDTTM YAVSADSKGL DTVVALLADV VLQPRLTDEE 180 VEMTRMAVQF ELEDLNLRPD PEPLLTEMIH EAAYRENTVG LHRFCPTENV AKINREVLHS 240 YLRNYYTPDR MVLAGVGVEH EHLVDCARKY LLGVQPAWGS AEAVDIDRSV AQYTGGIAKL 300 ERDMSNVSLG PTPIPELTHI MVGLESCSFL EEDFIPFAVL NMMMGGGGSF SAGGPGKGMF 360 SRLYLNVLNR HHWMYNATSY HHSYEDTGLL CIHASADPRQ VREMVEIITK EFILMGGTVD 420 TVELERAKTQ LTSMLMMNLE SRPVIFEDVG RQVLATRSRK LPHELCTLIR NVKPEDVKRV 480 ASKMLRGKPA VAALGDLTDL PTYEHIQTAL SSKDGRLPRT YRLFR 525 |
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.