Details for: PEX12

Gene ID: 5193

Symbol: PEX12

Ensembl ID: ENSG00000108733

Description: peroxisomal biogenesis factor 12

Associated with

Cells (max top 100)

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

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 32.0164
    Cell Significance Index: -4.9800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 19.6339
    Cell Significance Index: -4.9800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 11.0353
    Cell Significance Index: -5.2100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 10.4367
    Cell Significance Index: -4.2400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 4.2418
    Cell Significance Index: -5.2300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 1.3355
    Cell Significance Index: -5.2700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.8917
    Cell Significance Index: 169.7000
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.6894
    Cell Significance Index: 11.3600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5414
    Cell Significance Index: 53.5600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4500
    Cell Significance Index: 406.3300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.4305
    Cell Significance Index: 11.5400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3799
    Cell Significance Index: 22.8100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3581
    Cell Significance Index: 38.9500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2963
    Cell Significance Index: 48.2000
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.2846
    Cell Significance Index: 4.0000
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.2842
    Cell Significance Index: 4.5600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2117
    Cell Significance Index: 13.3400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1791
    Cell Significance Index: 12.3900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.1503
    Cell Significance Index: 17.5200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.1451
    Cell Significance Index: 1.9800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1339
    Cell Significance Index: 2.9000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1116
    Cell Significance Index: 5.0600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1027
    Cell Significance Index: 2.9600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0959
    Cell Significance Index: 4.9800
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 0.0573
    Cell Significance Index: 0.8000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0562
    Cell Significance Index: 1.2300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0523
    Cell Significance Index: 7.1800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0414
    Cell Significance Index: 5.3100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0390
    Cell Significance Index: 1.8200
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.0364
    Cell Significance Index: 0.4600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0357
    Cell Significance Index: 7.1700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0291
    Cell Significance Index: 5.2400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0259
    Cell Significance Index: 0.9100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0232
    Cell Significance Index: 12.6700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0229
    Cell Significance Index: 10.1300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0193
    Cell Significance Index: 2.3700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0191
    Cell Significance Index: 0.4000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0186
    Cell Significance Index: 6.6600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0183
    Cell Significance Index: 3.6300
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.0178
    Cell Significance Index: 0.2500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0147
    Cell Significance Index: 0.4000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0144
    Cell Significance Index: 0.4600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0092
    Cell Significance Index: 0.2300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0035
    Cell Significance Index: 0.2500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0028
    Cell Significance Index: 0.0400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0012
    Cell Significance Index: -2.3300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0022
    Cell Significance Index: -1.5800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0035
    Cell Significance Index: -6.4400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0037
    Cell Significance Index: -2.8200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0040
    Cell Significance Index: -6.2300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0048
    Cell Significance Index: -6.5200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0053
    Cell Significance Index: -3.3600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0061
    Cell Significance Index: -1.7600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0067
    Cell Significance Index: -4.9300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0070
    Cell Significance Index: -3.9400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0080
    Cell Significance Index: -0.1700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0089
    Cell Significance Index: -1.5200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0103
    Cell Significance Index: -6.4400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0104
    Cell Significance Index: -4.7000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0114
    Cell Significance Index: -1.3100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0146
    Cell Significance Index: -1.4900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0170
    Cell Significance Index: -0.2900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0195
    Cell Significance Index: -2.8400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0218
    Cell Significance Index: -2.5700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0221
    Cell Significance Index: -0.5900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0283
    Cell Significance Index: -5.9700
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: -0.0301
    Cell Significance Index: -0.3200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0352
    Cell Significance Index: -2.1600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0353
    Cell Significance Index: -4.5600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0360
    Cell Significance Index: -1.6900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0374
    Cell Significance Index: -1.3000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0390
    Cell Significance Index: -2.0500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0439
    Cell Significance Index: -2.9500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0488
    Cell Significance Index: -3.7500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0490
    Cell Significance Index: -3.0100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0498
    Cell Significance Index: -5.1900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0504
    Cell Significance Index: -2.8300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0537
    Cell Significance Index: -4.2500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0547
    Cell Significance Index: -4.0800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0559
    Cell Significance Index: -1.4700
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0567
    Cell Significance Index: -0.9000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0573
    Cell Significance Index: -1.6000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0639
    Cell Significance Index: -3.3300
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.0639
    Cell Significance Index: -0.9200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0673
    Cell Significance Index: -4.3400
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: -0.0711
    Cell Significance Index: -0.4400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0811
    Cell Significance Index: -2.0700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0854
    Cell Significance Index: -4.3200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0889
    Cell Significance Index: -1.0600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0970
    Cell Significance Index: -4.2900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0974
    Cell Significance Index: -3.9900
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0989
    Cell Significance Index: -1.4900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1011
    Cell Significance Index: -2.6000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1028
    Cell Significance Index: -2.7500
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1047
    Cell Significance Index: -1.1900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1063
    Cell Significance Index: -1.1000
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.1094
    Cell Significance Index: -0.9300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1130
    Cell Significance Index: -3.9600
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1150
    Cell Significance Index: -4.2200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1178
    Cell Significance Index: -3.4700

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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:** PEX12 is a small, highly conserved protein that belongs to the PEX family of peroxisomal biogenesis factors. It is specifically localized to the peroxisomal membrane and plays a crucial role in the assembly and import of peroxisomal proteins. PEX12 interacts with other peroxisomal proteins, including PEX5 and PEX3, to form the peroxisomal importomer complex, which is essential for the biogenesis of peroxisomes. PEX12 also exhibits ubiquitin ligase activity, enabling it to regulate protein quality control and ubiquitination. **Pathways and Functions:** PEX12 is involved in various cellular pathways, including: 1. **Peroxisomal biogenesis:** PEX12 plays a critical role in the assembly and import of peroxisomal proteins, ensuring the proper functioning of peroxisomes. 2. **Protein quality control:** PEX12 regulates protein ubiquitination and degradation, ensuring the removal of misfolded or incompletely synthesized proteins. 3. **Reactive oxygen species (ROS) response:** PEX12 interacts with ROS-responsive proteins, such as PEX3, to regulate ROS signaling and homeostasis. 4. **Protein import into peroxisome matrix:** PEX12 facilitates the import of peroxisomal proteins into the peroxisomal matrix, ensuring the proper functioning of peroxisomal enzymes. **Clinical Significance:** Dysregulation of PEX12 has been implicated in various human diseases, including: 1. **Peroxisomal biogenesis disorders (PBDs):** Mutations in the PEX12 gene have been associated with PBDs, characterized by impaired peroxisomal biogenesis and function. 2. **Neurodegenerative disorders:** PEX12 has been linked to neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease, where impaired peroxisomal function contributes to disease pathogenesis. 3. **Cancer:** PEX12 has been implicated in cancer progression, where dysregulated peroxisomal function contributes to tumorigenesis and metastasis. In conclusion, PEX12 plays a critical role in peroxisomal biogenesis and function, and its dysregulation has significant implications for human health and disease. Further research is needed to fully elucidate the mechanisms by which PEX12 regulates peroxisomal function and its role in human disease.

Genular Protein ID: 3565533940

Symbol: PEX12_HUMAN

Name: Peroxisome assembly factor 3

UniProtKB Accession Codes:

O00623 B2R6M2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 4 ChiTaRS 1 ComplexPortal 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 1 ExpressionAtlas 1 GO 18 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 6 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 3 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9090384

Title: Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.

PubMed ID: 9090384

DOI: 10.1038/ng0497-385

PubMed ID: 9632816

Title: PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p.

PubMed ID: 9632816

DOI: 10.1128/mcb.18.7.4324

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 9354782

Title: PEX12 encodes an integral membrane protein of peroxisomes.

PubMed ID: 9354782

DOI: 10.1038/ng1197-265

PubMed ID: 9922452

Title: Peroxisome synthesis in the absence of preexisting peroxisomes.

PubMed ID: 9922452

DOI: 10.1083/jcb.144.2.255

PubMed ID: 10704444

Title: PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis.

PubMed ID: 10704444

DOI: 10.1083/jcb.148.5.931

PubMed ID: 11390669

Title: Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences.

PubMed ID: 11390669

DOI: 10.1128/mcb.21.13.4413-4424.2001

PubMed ID: 24662292

Title: Distinct modes of ubiquitination of peroxisome-targeting signal type 1 (PTS1) receptor Pex5p regulate PTS1 protein import.

PubMed ID: 24662292

DOI: 10.1074/jbc.m113.527937

PubMed ID: 26094004

Title: A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorder.

PubMed ID: 26094004

DOI: 10.1007/s11033-015-3885-7

PubMed ID: 10562279

Title: PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import.

PubMed ID: 10562279

DOI: 10.1083/jcb.147.4.761

PubMed ID: 17041890

Title: Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.

PubMed ID: 17041890

DOI: 10.1002/humu.9462

PubMed ID: 17534573

Title: A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.

PubMed ID: 17534573

DOI: 10.1007/s10038-007-0157-y

PubMed ID: 19105186

Title: Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

PubMed ID: 19105186

DOI: 10.1002/humu.20932

PubMed ID: 26947510

Title: Effect of l-Arginine in One Patient with Peroxisome Biogenesis Disorder due to PEX12 Deficiency.

PubMed ID: 26947510

DOI: 10.1055/s-0036-1578798

PubMed ID: 33123925

Title: A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.

PubMed ID: 33123925

DOI: 10.1007/s10072-020-04843-2

Sequence Information:

  • Length: 359
  • Mass: 40797
  • Checksum: 1AF0BE6416422109
  • Sequence:
    • MAEHGAHFTA ASVADDQPSI FEVVAQDSLM TAVRPALQHV VKVLAESNPT HYGFLWRWFD 
EIFTLLDLLL QQHYLSRTSA SFSENFYGLK RIVMGDTHKS QRLASAGLPK QQLWKSIMFL 
VLLPYLKVKL EKLVSSLREE DEYSIHPPSS RWKRFYRAFL AAYPFVNMAW EGWFLVQQLR 
YILGKAQHHS PLLRLAGVQL GRLTVQDIQA LEHKPAKASM MQQPARSVSE KINSALKKAV 
GGVALSLSTG LSVGVFFLQF LDWWYSSENQ ETIKSLTALP TPPPPVHLDY NSDSPLLPKM 
KTVCPLCRKT RVNDTVLATS GYVFCYRCVF HYVRSHQACP ITGYPTEVQH LIKLYSPEN

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.