Details for: PEX7

Gene ID: 5191

Symbol: PEX7

Ensembl ID: ENSG00000112357

Description: peroxisomal biogenesis factor 7

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: 114.3076
    Cell Significance Index: -17.7800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 72.0697
    Cell Significance Index: -18.2800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 41.4087
    Cell Significance Index: -19.5500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 38.0301
    Cell Significance Index: -15.4500
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 29.1198
    Cell Significance Index: -19.5400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 16.3604
    Cell Significance Index: -15.6200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 15.4993
    Cell Significance Index: -19.1100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.7230
    Cell Significance Index: -18.0100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.9340
    Cell Significance Index: -19.4700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.0568
    Cell Significance Index: -6.6900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.0613
    Cell Significance Index: 14.4800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.0455
    Cell Significance Index: 28.0200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.0187
    Cell Significance Index: 919.7700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.9365
    Cell Significance Index: 48.6500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7123
    Cell Significance Index: 115.8500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.7035
    Cell Significance Index: 32.8000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.6774
    Cell Significance Index: 51.9900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.6527
    Cell Significance Index: 76.0600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5442
    Cell Significance Index: 109.1700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5073
    Cell Significance Index: 10.9900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4982
    Cell Significance Index: 34.4600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.4555
    Cell Significance Index: 4.2000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4253
    Cell Significance Index: 84.4100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3789
    Cell Significance Index: 10.5900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.3153
    Cell Significance Index: 11.9400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2501
    Cell Significance Index: 18.6400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2470
    Cell Significance Index: 88.5800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2367
    Cell Significance Index: 129.2800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2347
    Cell Significance Index: 44.6600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2320
    Cell Significance Index: 5.8000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2069
    Cell Significance Index: 37.2900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.2014
    Cell Significance Index: 8.9100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1981
    Cell Significance Index: 14.0100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1902
    Cell Significance Index: 5.4800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1774
    Cell Significance Index: 11.1800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1758
    Cell Significance Index: 77.7400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1753
    Cell Significance Index: 21.5600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1743
    Cell Significance Index: 9.7800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1626
    Cell Significance Index: 7.3700
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.1528
    Cell Significance Index: 2.3200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1347
    Cell Significance Index: 93.1700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.1343
    Cell Significance Index: 2.9400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1304
    Cell Significance Index: 3.5500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1076
    Cell Significance Index: 18.3700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1017
    Cell Significance Index: 191.5000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1001
    Cell Significance Index: 12.9300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0959
    Cell Significance Index: 12.3000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0903
    Cell Significance Index: 5.5500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0837
    Cell Significance Index: 11.5000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0618
    Cell Significance Index: 6.1100
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.0617
    Cell Significance Index: 0.7700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0568
    Cell Significance Index: 36.0500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0545
    Cell Significance Index: 2.5600
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.0478
    Cell Significance Index: 0.6800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0428
    Cell Significance Index: 1.1000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0323
    Cell Significance Index: 0.6700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0292
    Cell Significance Index: 13.2400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0248
    Cell Significance Index: 1.6700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0182
    Cell Significance Index: 28.0900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0152
    Cell Significance Index: 28.0100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0073
    Cell Significance Index: 0.3900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0017
    Cell Significance Index: 2.2600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0008
    Cell Significance Index: 0.5700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0106
    Cell Significance Index: -8.0200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0107
    Cell Significance Index: -1.5600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0122
    Cell Significance Index: -0.2600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0195
    Cell Significance Index: -14.4600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0294
    Cell Significance Index: -16.5900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0338
    Cell Significance Index: -21.0900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0350
    Cell Significance Index: -0.6000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0404
    Cell Significance Index: -4.1300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0404
    Cell Significance Index: -1.4200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0419
    Cell Significance Index: -0.5000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0440
    Cell Significance Index: -0.6500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0521
    Cell Significance Index: -14.9800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0568
    Cell Significance Index: -6.5100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0774
    Cell Significance Index: -2.4800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0923
    Cell Significance Index: -10.8800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0945
    Cell Significance Index: -19.9100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1029
    Cell Significance Index: -3.0300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1140
    Cell Significance Index: -3.9600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1237
    Cell Significance Index: -2.0700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1263
    Cell Significance Index: -6.5800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1465
    Cell Significance Index: -11.6000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1540
    Cell Significance Index: -16.0300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1652
    Cell Significance Index: -10.6600
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2141
    Cell Significance Index: -4.9500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2377
    Cell Significance Index: -6.2500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2465
    Cell Significance Index: -15.1100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2573
    Cell Significance Index: -6.1700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.3199
    Cell Significance Index: -9.1300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3218
    Cell Significance Index: -6.8300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.3230
    Cell Significance Index: -6.7600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.3240
    Cell Significance Index: -6.9300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.3259
    Cell Significance Index: -6.3600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3391
    Cell Significance Index: -10.8000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.3556
    Cell Significance Index: -2.9000
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.3596
    Cell Significance Index: -5.0400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3616
    Cell Significance Index: -11.8400

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:** 1. **Peroxisomal Biogenesis:** PEX7 is involved in the biogenesis of peroxisomes, which are essential for various cellular processes, including fatty acid oxidation, detoxification, and the degradation of amino acids and xenobiotics. 2. **Protein Targeting:** PEX7 recognizes and binds to specific targeting signals on peroxisomal proteins, facilitating their import into the peroxisome matrix. 3. **Protein Homodimerization:** PEX7 has been shown to form homodimers, which are essential for its function in targeting peroxisomal proteins. 4. **Cellular Expression:** PEX7 is highly expressed in cells with high metabolic demands, such as cardiac muscle myoblasts, cerebral cortex GABAergic interneurons, and renal alpha-intercalated cells. **Pathways and Functions:** 1. **Peroxisomal Matrix Targeting Signal-2 (PEX5) Binding:** PEX7 binds to PEX5, a targeting signal on peroxisomal proteins, facilitating their import into the peroxisome matrix. 2. **Protein Import into Peroxisome Matrix:** PEX7 plays a crucial role in importing peroxisomal proteins into the peroxisome matrix, ensuring the proper assembly and function of peroxisomes. 3. **Fatty Acid Beta-Oxidation:** PEX7 is involved in the regulation of fatty acid beta-oxidation, a process critical for energy production and lipid metabolism. 4. **Detoxification:** PEX7 contributes to the detoxification of xenobiotics and other toxic substances, protecting cells from damage. **Clinical Significance:** Dysregulation of PEX7 has been implicated in various diseases, including: 1. **Peroxisomal Biogenesis Disorders (PBDs):** Mutations in PEX7 can lead to PBDs, a group of rare genetic disorders characterized by peroxisomal dysfunction and metabolic disturbances. 2. **Fatty Acid Oxidation Defects:** Impaired PEX7 function can contribute to fatty acid oxidation defects, leading to metabolic disorders and developmental abnormalities. 3. **Neurodegenerative Diseases:** PEX7 has been implicated in the pathogenesis of neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease, where peroxisomal dysfunction may contribute to disease progression. In conclusion, PEX7 plays a critical role in maintaining cellular homeostasis by regulating peroxisomal biogenesis, protein targeting, and function. Dysregulation of PEX7 has significant clinical implications, highlighting the importance of this gene in various diseases. Further research is needed to fully elucidate the mechanisms of PEX7 and its role in human disease.

Genular Protein ID: 2120262438

Symbol: PEX7_HUMAN

Name: N/A

UniProtKB Accession Codes:

O00628 C0H5X6

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 17 Ensembl 2 ExpressionAtlas 1 GO 14 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 6 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9090383

Title: Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.

PubMed ID: 9090383

DOI: 10.1038/ng0497-381

PubMed ID: 9090381

Title: Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.

PubMed ID: 9090381

DOI: 10.1038/ng0497-369

PubMed ID: 10673331

Title: PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.

PubMed ID: 10673331

DOI: 10.1006/geno.1999.6080

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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: 11546814

Title: Domain mapping of human PEX5 reveals functional and structural similarities to Saccharomyces cerevisiae Pex18p and Pex21p.

PubMed ID: 11546814

DOI: 10.1074/jbc.m106932200

PubMed ID: 11931631

Title: Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins.

PubMed ID: 11931631

DOI: 10.1042/bj20011432

PubMed ID: 22057399

Title: Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7.

PubMed ID: 22057399

DOI: 10.1074/jbc.m111.301853

PubMed ID: 25538232

Title: Mechanistic insights into PTS2-mediated peroxisomal protein import: the co-receptor PEX5L drastically increases the interaction strength between the cargo protein and the receptor PEX7.

PubMed ID: 25538232

DOI: 10.1074/jbc.m114.601575

PubMed ID: 30204880

Title: A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein.

PubMed ID: 30204880

DOI: 10.1093/jb/mvy073

PubMed ID: 33389129

Title: A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.

PubMed ID: 33389129

DOI: 10.1007/s00439-020-02238-z

PubMed ID: 12522768

Title: Identification of PEX7 as the second gene involved in Refsum disease.

PubMed ID: 12522768

DOI: 10.1086/346093

Sequence Information:

  • Length: 323
  • Mass: 35892
  • Checksum: D405387F7F14B432
  • Sequence:
    • MSAVCGGAAR MLRTPGRHGY AAEFSPYLPG RLACATAQHY GIAGCGTLLI LDPDEAGLRL 
FRSFDWNDGL FDVTWSENNE HVLITCSGDG SLQLWDTAKA AGPLQVYKEH AQEVYSVDWS 
QTRGEQLVVS GSWDQTVKLW DPTVGKSLCT FRGHESIIYS TIWSPHIPGC FASASGDQTL 
RIWDVKAAGV RIVIPAHQAE ILSCDWCKYN ENLLVTGAVD CSLRGWDLRN VRQPVFELLG 
HTYAIRRVKF SPFHASVLAS CSYDFTVRFW NFSKPDSLLE TVEHHTEFTC GLDFSLQSPT 
QVADCSWDET IKIYDPACLT IPA

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.