Details for: PEX6

Gene ID: 5190

Symbol: PEX6

Ensembl ID: ENSG00000124587

Description: peroxisomal biogenesis factor 6

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: 139.2521
    Cell Significance Index: -21.6600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 82.2415
    Cell Significance Index: -20.8600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 46.6453
    Cell Significance Index: -18.9500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 19.8692
    Cell Significance Index: -18.9700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 17.8514
    Cell Significance Index: -22.0100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.9549
    Cell Significance Index: -21.3100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.5980
    Cell Significance Index: -22.0900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.6271
    Cell Significance Index: 22.2000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.3162
    Cell Significance Index: 79.0200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.2439
    Cell Significance Index: 135.3000
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 1.1403
    Cell Significance Index: 18.7900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.0386
    Cell Significance Index: 168.9200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.9565
    Cell Significance Index: 191.8700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8619
    Cell Significance Index: 778.2300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.8311
    Cell Significance Index: 164.9300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7932
    Cell Significance Index: 22.8600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.6713
    Cell Significance Index: 46.4300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.6280
    Cell Significance Index: 17.5500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5277
    Cell Significance Index: 27.4100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4776
    Cell Significance Index: 21.6500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.4612
    Cell Significance Index: 53.7500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4229
    Cell Significance Index: 151.6900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3583
    Cell Significance Index: 247.8000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.3320
    Cell Significance Index: 8.9000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3259
    Cell Significance Index: 177.9700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.3045
    Cell Significance Index: 23.3700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1868
    Cell Significance Index: 22.9700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1803
    Cell Significance Index: 32.5100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1723
    Cell Significance Index: 11.1200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1679
    Cell Significance Index: 4.5700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1545
    Cell Significance Index: 21.2200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1529
    Cell Significance Index: 15.1300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1457
    Cell Significance Index: 8.9600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1316
    Cell Significance Index: 8.8500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1087
    Cell Significance Index: 3.8200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1040
    Cell Significance Index: 4.8500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1014
    Cell Significance Index: 19.3000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1013
    Cell Significance Index: 4.4800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0871
    Cell Significance Index: 4.8900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0840
    Cell Significance Index: 2.1000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0729
    Cell Significance Index: 32.2200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0716
    Cell Significance Index: 2.7100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0624
    Cell Significance Index: 3.9300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0531
    Cell Significance Index: 9.0600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0531
    Cell Significance Index: 99.9000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0476
    Cell Significance Index: 30.2400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0315
    Cell Significance Index: 48.4300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0292
    Cell Significance Index: 0.5000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0292
    Cell Significance Index: 53.9400
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.0106
    Cell Significance Index: 0.1700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0053
    Cell Significance Index: 2.4100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0047
    Cell Significance Index: 6.4400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0046
    Cell Significance Index: 0.5400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0044
    Cell Significance Index: -0.5600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0060
    Cell Significance Index: -0.1600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0115
    Cell Significance Index: -0.8100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0123
    Cell Significance Index: -1.6000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0158
    Cell Significance Index: -2.2900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0158
    Cell Significance Index: -11.5500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0217
    Cell Significance Index: -0.6200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0242
    Cell Significance Index: -17.9300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0273
    Cell Significance Index: -20.7000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0333
    Cell Significance Index: -18.7700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0390
    Cell Significance Index: -24.3500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0662
    Cell Significance Index: -19.0600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0859
    Cell Significance Index: -8.7700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0995
    Cell Significance Index: -2.1200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1020
    Cell Significance Index: -4.8000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1120
    Cell Significance Index: -23.5800
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.1179
    Cell Significance Index: -1.6900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1310
    Cell Significance Index: -15.0100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1312
    Cell Significance Index: -9.7800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1422
    Cell Significance Index: -3.4100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1445
    Cell Significance Index: -3.1300
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1640
    Cell Significance Index: -3.7900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1663
    Cell Significance Index: -8.7300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1686
    Cell Significance Index: -17.5600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1832
    Cell Significance Index: -2.7100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1989
    Cell Significance Index: -10.3600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2038
    Cell Significance Index: -5.3600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2260
    Cell Significance Index: -4.4100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2381
    Cell Significance Index: -3.9900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2390
    Cell Significance Index: -14.6500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2418
    Cell Significance Index: -19.1500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2785
    Cell Significance Index: -7.1600
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.2798
    Cell Significance Index: -3.4700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3265
    Cell Significance Index: -6.9300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3296
    Cell Significance Index: -8.4200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.3388
    Cell Significance Index: -3.1200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3489
    Cell Significance Index: -7.6400
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.3547
    Cell Significance Index: -5.2400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3663
    Cell Significance Index: -12.7300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3708
    Cell Significance Index: -11.8100
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.3808
    Cell Significance Index: -8.1400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3887
    Cell Significance Index: -12.7300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4086
    Cell Significance Index: -10.9300
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.4158
    Cell Significance Index: -4.5300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.4265
    Cell Significance Index: -7.1900
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.4338
    Cell Significance Index: -6.2300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4544
    Cell Significance Index: -15.9200

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** PEX6 is a highly conserved gene, with its human ortholog (PEX6_HUMAN) exhibiting high sequence identity to its orthologs in other species. The PEX6 protein is a type II transmembrane protein, consisting of an N-terminal cytoplasmic domain, a transmembrane domain, and a C-terminal peroxisomal targeting signal 1 (PTS1) motif. The PTS1 motif is essential for the targeting of PEX6 to the peroxisomal membrane, where it interacts with other proteins involved in peroxisomal biogenesis. **Pathways and Functions** PEX6 is involved in the following pathways: 1. **Peroxisomal biogenesis**: PEX6 plays a critical role in the assembly and import of peroxisomal proteins into the peroxisomal matrix, ensuring the proper functioning of peroxisomal enzymes. 2. **Fatty acid oxidation**: PEX6 is involved in the breakdown of fatty acids, which is essential for energy production and cellular homeostasis. 3. **Amino acid metabolism**: PEX6 regulates the breakdown of amino acids, which is essential for protein synthesis and cellular homeostasis. **Clinical Significance** Mutations in the PEX6 gene have been associated with a range of neurological disorders, including: 1. **Peroxisomal biogenesis disorders (PBDs)**: PBDs are a group of rare genetic disorders characterized by impaired fatty acid oxidation and accumulation of toxic intermediates. Mutations in the PEX6 gene have been identified in patients with PBDs, highlighting the importance of PEX6 in peroxisomal biogenesis. 2. **Neurodegenerative diseases**: Mutations in the PEX6 gene have also been associated with neurodegenerative diseases, including Alzheimer's disease, Parkinson's disease, and Huntington's disease. These diseases are characterized by impaired energy production, oxidative stress, and accumulation of toxic intermediates. 3. **Cerebral palsy**: Mutations in the PEX6 gene have been identified in patients with cerebral palsy, a neurological disorder characterized by impaired motor function and cognitive impairment. In summary, PEX6 is a critical gene involved in peroxisomal biogenesis, fatty acid oxidation, and amino acid metabolism. Mutations in the PEX6 gene have been associated with a range of neurological disorders, including PBDs, neurodegenerative diseases, and cerebral palsy. Further research is needed to fully understand the role of PEX6 in human health and disease.

Genular Protein ID: 41694367

Symbol: PEX6_HUMAN

Name: Peroxisomal-type ATPase 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8670792

Title: The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

PubMed ID: 8670792

DOI: 10.1002/j.1460-2075.1996.tb00654.x

PubMed ID: 8940266

Title: Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans.

PubMed ID: 8940266

PubMed ID: 10408779

Title: Genomic structure and identification of 11 novel mutations of the PEX6 'peroxisome assembly factor-2' gene in patients with peroxisome biogenesis disorders.

PubMed ID: 10408779

DOI: 10.1002/(sici)1098-1004(1999)13:6<487::aid-humu9>3.0.co;2-t

PubMed ID: 11355018

Title: The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.

PubMed ID: 11355018

DOI: 10.1007/s100380170078

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 12717447

Title: The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes.

PubMed ID: 12717447

DOI: 10.1038/ncb982

PubMed ID: 16314507

Title: Shuttling mechanism of peroxisome targeting signal type 1 receptor Pex5: ATP-independent import and ATP-dependent export.

PubMed ID: 16314507

DOI: 10.1128/mcb.25.24.10822-10832.2005

PubMed ID: 16854980

Title: Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p.

PubMed ID: 16854980

DOI: 10.1074/jbc.m605159200

PubMed ID: 21362118

Title: Recruiting mechanism of the AAA peroxins, Pex1p and Pex6p, to Pex26p on the peroxisomal membrane.

PubMed ID: 21362118

DOI: 10.1111/j.1600-0854.2011.01182.x

PubMed ID: 29884772

Title: Peroxisomal monoubiquitinated PEX5 interacts with the AAA ATPases PEX1 and PEX6 and is unfolded during its dislocation into the cytosol.

PubMed ID: 29884772

DOI: 10.1074/jbc.ra118.003669

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: 21937992

Title: Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PubMed ID: 21937992

DOI: 10.1038/nature10423

PubMed ID: 21980954

Title: AWP1/ZFAND6 functions in Pex5 export by interacting with cys-monoubiquitinated Pex5 and Pex6 AAA ATPase.

PubMed ID: 21980954

DOI: 10.1111/j.1600-0854.2011.01298.x

PubMed ID: 24129315

Title: Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.

PubMed ID: 24129315

DOI: 10.1074/mcp.o113.027870

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: 26387595

Title: Heimler syndrome is caused by hypomorphic mutations in the peroxisome-biogenesis genes PEX1 and PEX6.

PubMed ID: 26387595

DOI: 10.1016/j.ajhg.2015.08.011

PubMed ID: 26593283

Title: PEX6 is expressed in photoreceptor cilia and mutated in deafblindness with enamel dysplasia and microcephaly.

PubMed ID: 26593283

DOI: 10.1002/humu.22934

PubMed ID: 27302843

Title: Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

PubMed ID: 27302843

DOI: 10.1038/ejhg.2016.62

Sequence Information:

  • Length: 980
  • Mass: 104061
  • Checksum: 0EC1C2A75CE0038F
  • Sequence:
  • MALAVLRVLE PFPTETPPLA VLLPPGGPWP AAELGLVLAL RPAGESPAGP ALLVAALEGP 
    DAGTEEQGPG PPQLLVSRAL LRLLALGSGA WVRARAVRRP PALGWALLGT SLGPGLGPRV 
    GPLLVRRGET LPVPGPRVLE TRPALQGLLG PGTRLAVTEL RGRARLCPES GDSSRPPPPP 
    VVSSFAVSGT VRRLQGVLGG TGDSLGVSRS CLRGLGLFQG EWVWVAQARE SSNTSQPHLA 
    RVQVLEPRWD LSDRLGPGSG PLGEPLADGL ALVPATLAFN LGCDPLEMGE LRIQRYLEGS 
    IAPEDKGSCS LLPGPPFARE LHIEIVSSPH YSTNGNYDGV LYRHFQIPRV VQEGDVLCVP 
    TIGQVEILEG SPEKLPRWRE MFFKVKKTVG EAPDGPASAY LADTTHTSLY MVGSTLSPVP 
    WLPSEESTLW SSLSPPGLEA LVSELCAVLK PRLQPGGALL TGTSSVLLRG PPGCGKTTVV 
    AAACSHLGLH LLKVPCSSLC AESSGAVETK LQAIFSRARR CRPAVLLLTA VDLLGRDRDG 
    LGEDARVMAV LRHLLLNEDP LNSCPPLMVV ATTSRAQDLP ADVQTAFPHE LEVPALSEGQ 
    RLSILRALTA HLPLGQEVNL AQLARRCAGF VVGDLYALLT HSSRAACTRI KNSGLAGGLT 
    EEDEGELCAA GFPLLAEDFG QALEQLQTAH SQAVGAPKIP SVSWHDVGGL QEVKKEILET 
    IQLPLEHPEL LSLGLRRSGL LLHGPPGTGK TLLAKAVATE CSLTFLSVKG PELINMYVGQ 
    SEENVREVFA RARAAAPCII FFDELDSLAP SRGRSGDSGG VMDRVVSQLL AELDGLHSTQ 
    DVFVIGATNR PDLLDPALLR PGRFDKLVFV GANEDRASQL RVLSAITRKF KLEPSVSLVN 
    VLDCCPPQLT GADLYSLCSD AMTAALKRRV HDLEEGLEPG SSALMLTMED LLQAAARLQP 
    SVSEQELLRY KRIQRKFAAC

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.