Details for: PMPCA

Gene ID: 23203

Symbol: PMPCA

Ensembl ID: ENSG00000165688

Description: peptidase, mitochondrial processing subunit alpha

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 3.42
    Marker Score: 13,232
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.71
    Marker Score: 6,732
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.47
    Marker Score: 994
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.27
    Marker Score: 1,823
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.15
    Marker Score: 1,446
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.11
    Marker Score: 1,198
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.09
    Marker Score: 1,158
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.09
    Marker Score: 2,283
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.08
    Marker Score: 1,149
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.04
    Marker Score: 3,860
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.03
    Marker Score: 4,235
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.01
    Marker Score: 675
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1
    Marker Score: 499
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,675
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47,899
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,388
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.98
    Marker Score: 282
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.96
    Marker Score: 1,634
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.95
    Marker Score: 2,598
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.94
    Marker Score: 32,724
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2,393
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.93
    Marker Score: 1,242
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.92
    Marker Score: 474
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.91
    Marker Score: 432
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.91
    Marker Score: 684
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.91
    Marker Score: 1,512
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.91
    Marker Score: 502
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.91
    Marker Score: 3,931
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.91
    Marker Score: 9,197
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5,177
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.91
    Marker Score: 1,333
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.9
    Marker Score: 909
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2,688
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.87
    Marker Score: 205
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.87
    Marker Score: 2,076
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,290
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 306
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.84
    Marker Score: 533
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.82
    Marker Score: 518
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.81
    Marker Score: 5,292
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.8
    Marker Score: 549
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.8
    Marker Score: 8,057
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.8
    Marker Score: 2,176
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.8
    Marker Score: 275
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.79
    Marker Score: 315
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.78
    Marker Score: 9,054
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.78
    Marker Score: 6,710
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,263
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.78
    Marker Score: 1,640
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.78
    Marker Score: 249
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.77
    Marker Score: 5,756
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.77
    Marker Score: 2,283
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.77
    Marker Score: 10,117
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.76
    Marker Score: 1,742
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.76
    Marker Score: 700
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.76
    Marker Score: 581
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.76
    Marker Score: 215
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.76
    Marker Score: 1,170
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.75
    Marker Score: 1,887
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.75
    Marker Score: 8,409
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.74
    Marker Score: 308
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.74
    Marker Score: 1,812
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.74
    Marker Score: 787
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.73
    Marker Score: 691
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.73
    Marker Score: 654
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 0.73
    Marker Score: 1,029
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.73
    Marker Score: 1,948
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.73
    Marker Score: 684
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 460
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.72
    Marker Score: 1,139
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.71
    Marker Score: 370
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.71
    Marker Score: 1,171
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.71
    Marker Score: 921
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.71
    Marker Score: 7,353
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.71
    Marker Score: 289
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.71
    Marker Score: 705
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.71
    Marker Score: 2,723
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.71
    Marker Score: 1,086
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.7
    Marker Score: 138
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.7
    Marker Score: 512
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.7
    Marker Score: 185
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.68
    Marker Score: 314
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 175
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.68
    Marker Score: 3,275
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2,858
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.68
    Marker Score: 708
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.68
    Marker Score: 566
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.68
    Marker Score: 237
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.68
    Marker Score: 447
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.68
    Marker Score: 4,320
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.68
    Marker Score: 1,373
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.67
    Marker Score: 451
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.67
    Marker Score: 161
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.67
    Marker Score: 1,586
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.67
    Marker Score: 612
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.67
    Marker Score: 752
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.67
    Marker Score: 1,520
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 0.67
    Marker Score: 403
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.67
    Marker Score: 326

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** PMPCA, also known as MPPA_HUMAN, is a mitochondrial protein that plays a pivotal role in the processing and maturation of mitochondrial proteins. It is a subunit of the mitochondrial processing peptidase complex, which is responsible for removing the signal peptide from precursor proteins, allowing them to integrate into the mitochondrial inner membrane. PMPCA is highly expressed in various cell types, including neural progenitor cells, placental villous trophoblasts, and proerythroblasts, highlighting its importance in cellular development and function. **Pathways and Functions:** The PMPCA gene is involved in several critical pathways, including: 1. **Mitochondrial calcium ion transport**: PMPCA regulates the uptake and release of calcium ions within the mitochondria, which is essential for maintaining mitochondrial function and energy production. 2. **Mitochondrial protein degradation**: PMPCA is involved in the degradation of mitochondrial proteins, which is crucial for maintaining mitochondrial homeostasis and preventing protein accumulation. 3. **Protein processing involved in protein targeting to mitochondrion**: PMPCA facilitates the processing and maturation of precursor proteins that are targeted to the mitochondria, ensuring the proper integration of these proteins into the mitochondrial inner membrane. 4. **Metalloendopeptidase activity**: PMPCA exhibits metalloendopeptidase activity, which is essential for the cleavage of peptide bonds in mitochondrial proteins. **Clinical Significance:** Dysregulation of PMPCA has been implicated in various diseases, including: 1. **Mitochondrial disorders**: Mutations in the PMPCA gene have been associated with mitochondrial disorders, such as mitochondrial myopathies and encephalopathy. 2. **Cancer**: PMPCA overexpression has been observed in various types of cancer, including leukemia and lymphoma, suggesting its potential role in tumorigenesis. 3. **Neurological disorders**: PMPCA dysregulation has been implicated in neurological disorders, such as Alzheimer's disease and Parkinson's disease, highlighting its potential role in neurodegenerative diseases. In conclusion, PMPCA is a critical component of the mitochondrial processing peptidase complex, essential for the proper functioning and maturation of mitochondrial proteins. Its dysregulation has been implicated in various diseases, highlighting the need for further research into the molecular mechanisms underlying PMPCA function and its clinical significance.

Genular Protein ID: 1728765288

Symbol: MPPA_HUMAN

Name: Mitochondrial-processing peptidase subunit alpha

UniProtKB Accession Codes:

Q10713 B4DKL3 E7ET61 Q16639 Q5SXM9 Q8N513

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 10 EPD 1 Ensembl 4 ExpressionAtlas 1 GO 7 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MEROPS 2 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 2 RefSeq 3 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7788527

Title: Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1.

PubMed ID: 7788527

DOI: 10.1093/dnares/2.1.37

PubMed ID: 8590280

Title: Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1.

PubMed ID: 8590280

DOI: 10.1093/dnares/2.4.167

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11840567

Title: Cluster analysis of an extensive human breast cancer cell line protein expression map database.

PubMed ID: 11840567

DOI: 10.1002/1615-9861(200202)2:2<212::aid-prot212>3.0.co;2-h

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25808372

Title: PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

PubMed ID: 25808372

DOI: 10.1093/brain/awv057

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 26657514

Title: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

PubMed ID: 26657514

DOI: 10.1093/brain/awv362

Sequence Information:

  • Length: 525
  • Mass: 58253
  • Checksum: 2751E7FCDC864E3F
  • Sequence:
    • MAAVVLAATR LLRGSGSWGC SRLRFGPPAY RRFSSGGAYP NIPLSSPLPG VPKPVFATVD 
GQEKFETKVT TLDNGLRVAS QNKFGQFCTV GILINSGSRY EAKYLSGIAH FLEKLAFSST 
ARFDSKDEIL LTLEKHGGIC DCQTSRDTTM YAVSADSKGL DTVVALLADV VLQPRLTDEE 
VEMTRMAVQF ELEDLNLRPD PEPLLTEMIH EAAYRENTVG LHRFCPTENV AKINREVLHS 
YLRNYYTPDR MVLAGVGVEH EHLVDCARKY LLGVQPAWGS AEAVDIDRSV AQYTGGIAKL 
ERDMSNVSLG PTPIPELTHI MVGLESCSFL EEDFIPFAVL NMMMGGGGSF SAGGPGKGMF 
SRLYLNVLNR HHWMYNATSY HHSYEDTGLL CIHASADPRQ VREMVEIITK EFILMGGTVD 
TVELERAKTQ LTSMLMMNLE SRPVIFEDVG RQVLATRSRK LPHELCTLIR NVKPEDVKRV 
ASKMLRGKPA VAALGDLTDL PTYEHIQTAL SSKDGRLPRT YRLFR

Genular Protein ID: 3317575788

Symbol: Q5SXN9_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q5SXN9

Database IDs:

AlphaFoldDB 1 Antibodypedia 1 Bgee 1 CTD 1 ChiTaRS 1 EMBL 1 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 4 Gene3D 1 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 4 MassIVE 1 MaxQB 2 NCBI Taxonomy 1 PANTHER 2 PROSITE 1 PeptideAtlas 1 Pfam 4 Proteomes 2 ProteomicsDB 1 RefSeq 1 RuleBase 1 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 563
  • Mass: 61713
  • Checksum: 9CF1F8014F6516D6
  • Sequence:
    • MAAVVLAATR LLRGSGSWGC SRLRFGPPAY RRFSSGGAYP NIPLSSPLPG VPKPVFATVD 
GQEKFETKVT TLDNGLRVAS QNKFGQFCTV GILINSGSRY EAKYLSGIAH FLEKLAFSST 
ARFDSKDEIL LTLEKHGGIC DCQTSRDTTM YAVSADSKGL DTVVALLADV VLQPRLTDEE 
VEMTRMAVQF ELEDLNLRPD PEPLLTEMIH EAAYRENTVG LHRFCPTENV AKINREVLHS 
YLRNYYTPDR MVLAGVGVEH EHLVDCARKY LLGVQPAWGS AEAVDIDRSV AQYTGGIAKL 
ERDMSNVSLG PTPIPELTHI MVGLESCSFL EEDFIPFAVL NMMMGGGGSF SAGGPGKGMF 
SRLYLNVLNR HHWMYNATSY HHSYEDTGLL CIHASADPRQ VREMVEIITK EFILMGGTVD 
TVELERAKTQ LTSMLMMNLE SRPVIFEDVG RQVLATRSRK LPHELCTLIR EYRRGSEGLP 
QASARLRGGR LALPQAVVGL WYVHHTQNLG PSPVVLSRGG QGQGRGVADL VSLPGPTMHL 
LPPWQVTPPS APLGGAVTTA QSC

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.