Details for: PEX1

Gene ID: 5189

Symbol: PEX1

Ensembl ID: ENSG00000127980

Description: peroxisomal biogenesis factor 1

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: 169.7898
    Cell Significance Index: -26.4100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 101.0868
    Cell Significance Index: -25.6400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 57.9828
    Cell Significance Index: -27.3800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 54.6452
    Cell Significance Index: -22.2000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 23.2838
    Cell Significance Index: -22.2300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 21.9067
    Cell Significance Index: -27.0100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.7056
    Cell Significance Index: -26.0000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 7.0944
    Cell Significance Index: -21.7900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.9006
    Cell Significance Index: -27.2300
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.0574
    Cell Significance Index: -8.8800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.1674
    Cell Significance Index: 189.8700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.1289
    Cell Significance Index: 226.4600
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.9272
    Cell Significance Index: 11.5000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7992
    Cell Significance Index: 721.6600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6882
    Cell Significance Index: 246.8500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.5973
    Cell Significance Index: 36.7100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5876
    Cell Significance Index: 116.6100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.5842
    Cell Significance Index: 36.8200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5636
    Cell Significance Index: 12.2100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.5377
    Cell Significance Index: 41.2600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5187
    Cell Significance Index: 23.5100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.4216
    Cell Significance Index: 10.1100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4170
    Cell Significance Index: 12.0200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.4111
    Cell Significance Index: 15.5700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.4090
    Cell Significance Index: 18.0900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4076
    Cell Significance Index: 28.1900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3607
    Cell Significance Index: 10.0800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3549
    Cell Significance Index: 63.9800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3536
    Cell Significance Index: 18.3700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3506
    Cell Significance Index: 242.5200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.3163
    Cell Significance Index: 17.7500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2805
    Cell Significance Index: 153.1800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2201
    Cell Significance Index: 10.2600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2181
    Cell Significance Index: 96.4100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2035
    Cell Significance Index: 38.7300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2020
    Cell Significance Index: 24.8400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1951
    Cell Significance Index: 26.7900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1791
    Cell Significance Index: 12.0400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.1306
    Cell Significance Index: 2.8600
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1292
    Cell Significance Index: 1.5400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1205
    Cell Significance Index: 11.9200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1090
    Cell Significance Index: 3.8300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0977
    Cell Significance Index: 183.8900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0803
    Cell Significance Index: 51.0200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0730
    Cell Significance Index: 112.4500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0708
    Cell Significance Index: 5.0100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0554
    Cell Significance Index: 102.0900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0456
    Cell Significance Index: 0.8900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0329
    Cell Significance Index: 4.2200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0274
    Cell Significance Index: 0.4700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0158
    Cell Significance Index: 21.5300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0146
    Cell Significance Index: 6.6100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0070
    Cell Significance Index: 0.4500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0066
    Cell Significance Index: 4.8300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0007
    Cell Significance Index: -0.0900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0087
    Cell Significance Index: -1.2700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0087
    Cell Significance Index: -1.4900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0270
    Cell Significance Index: -20.0100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0290
    Cell Significance Index: -21.9800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0421
    Cell Significance Index: -23.7700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0423
    Cell Significance Index: -1.1300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0480
    Cell Significance Index: -29.9600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0484
    Cell Significance Index: -1.0300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0700
    Cell Significance Index: -3.6800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0766
    Cell Significance Index: -22.0500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0771
    Cell Significance Index: -1.6000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0899
    Cell Significance Index: -9.1800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1093
    Cell Significance Index: -12.7400
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1108
    Cell Significance Index: -2.3700
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.1317
    Cell Significance Index: -1.0200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1348
    Cell Significance Index: -28.4000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1356
    Cell Significance Index: -3.3900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1359
    Cell Significance Index: -3.7000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1400
    Cell Significance Index: -18.0900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1409
    Cell Significance Index: -6.6200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1411
    Cell Significance Index: -3.7800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1629
    Cell Significance Index: -18.6600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1822
    Cell Significance Index: -2.6900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1862
    Cell Significance Index: -2.5400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1923
    Cell Significance Index: -20.0200
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2086
    Cell Significance Index: -4.8200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2242
    Cell Significance Index: -11.6800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2260
    Cell Significance Index: -16.8400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2614
    Cell Significance Index: -20.7000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2614
    Cell Significance Index: -6.7200
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.3112
    Cell Significance Index: -3.8800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.3266
    Cell Significance Index: -9.3200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3522
    Cell Significance Index: -11.2800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3815
    Cell Significance Index: -6.3900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3831
    Cell Significance Index: -8.1300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4038
    Cell Significance Index: -11.9000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.4199
    Cell Significance Index: -14.5900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4406
    Cell Significance Index: -27.0100
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.4561
    Cell Significance Index: -6.5500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.4694
    Cell Significance Index: -23.7200
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.4825
    Cell Significance Index: -6.0900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.4967
    Cell Significance Index: -13.0600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5324
    Cell Significance Index: -17.4300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.5332
    Cell Significance Index: -13.0100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5608
    Cell Significance Index: -17.8600

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:** PEX1 is a multifunctional protein that belongs to the PEX family of proteins, which are essential for peroxisome formation and function. The PEX1 protein is a member of the PEX5-like protein family and is characterized by its ability to bind to the peroxisomal membrane and interact with other proteins involved in peroxisomal biogenesis. PEX1 is primarily expressed in cells that require high levels of peroxisomal function, including retinal ganglion cells, cortical interneurons, and lens epithelial cells. **Pathways and Functions:** PEX1 plays a critical role in the assembly and targeting of peroxisomes to their correct location within the cell. The PEX1 protein interacts with other proteins involved in peroxisomal biogenesis, including PEX3, PEX4, and PEX19A, to form a complex that facilitates the import of peroxisomal proteins into the peroxisome matrix. PEX1 also regulates the localization of peroxisomal proteins to the peroxisomal membrane, ensuring proper peroxisomal function and maintaining cellular homeostasis. In addition to its role in peroxisomal biogenesis, PEX1 has been implicated in the regulation of cellular metabolism, including fatty acid oxidation and amino acid degradation. PEX1 has also been shown to interact with proteins involved in the regulation of cellular signaling pathways, including the PI3K/Akt and MAPK/ERK pathways. **Clinical Significance:** Mutations in the PEX1 gene have been linked to a range of clinical disorders, including peroxisomal biogenesis disorders (PBDs) and other metabolic disorders. PBDs are a group of rare and often fatal genetic disorders characterized by impaired peroxisomal function, leading to a range of clinical symptoms, including seizures, muscle weakness, and developmental delays. The identification of PEX1 mutations has provided valuable insights into the molecular mechanisms underlying PBDs and has led to the development of new therapeutic strategies for the treatment of these disorders. Furthermore, PEX1 has been implicated in the pathogenesis of other diseases, including cancer, neurodegenerative disorders, and metabolic disorders. The regulation of PEX1 by cellular stress and signaling pathways has been shown to have a significant impact on cellular function and survival, highlighting the importance of PEX1 in maintaining cellular homeostasis. In conclusion, PEX1 is a critical protein involved in peroxisomal biogenesis and function. The identification of PEX1 mutations has provided valuable insights into the molecular mechanisms underlying peroxisomal biogenesis disorders and has led to the development of new therapeutic strategies for the treatment of these disorders. Further research into the role of PEX1 in cellular function and disease will continue to shed light on the complex relationships between peroxisomal biogenesis and cellular health.

Genular Protein ID: 131270353

Symbol: PEX1_HUMAN

Name: Peroxisome biogenesis disorder protein 1

UniProtKB Accession Codes:

O43933 A4D1G3 A8KA90 B4DIM7 E9PE75 Q96S71 Q96S72 Q96S73 Q99994

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEBI 7 ChiTaRS 1 ComplexPortal 1 DNASU 1 DisGeNET 1 EMBL 14 Ensembl 2 ExpressionAtlas 1 GO 16 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 8 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 3 Rhea 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9398848

Title: Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.

PubMed ID: 9398848

DOI: 10.1038/ng1297-449

PubMed ID: 9398847

Title: Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.

PubMed ID: 9398847

DOI: 10.1038/ng1297-445

PubMed ID: 9539740

Title: Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.

PubMed ID: 9539740

DOI: 10.1073/pnas.95.8.4350

PubMed ID: 11439091

Title: Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.

PubMed ID: 11439091

DOI: 10.1042/0264-6021:3570417

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

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: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

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: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

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: 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: 16088892

Title: Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms.

PubMed ID: 16088892

DOI: 10.1002/humu.9356

PubMed ID: 27302843

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

PubMed ID: 27302843

DOI: 10.1038/ejhg.2016.62

PubMed ID: 32069232

Title: Two different missense mutations of PEX genes in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation.

PubMed ID: 32069232

DOI: 10.1515/jpem-2019-0194

PubMed ID: 33955040

Title: Compound heterozygous p. Arg949Trp and p. Gly970Ala mutations deteriorated the function of PEX1p: A study on PEX1 in a patient with Zellweger syndrome.

PubMed ID: 33955040

DOI: 10.1002/jcb.29945

PubMed ID: 33708531

Title: A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the PEX1 gene: a case report and literature review.

PubMed ID: 33708531

DOI: 10.21037/tp-20-167

Sequence Information:

  • Length: 1283
  • Mass: 142867
  • Checksum: 333CE0B15D2E2017
  • Sequence:
    • MWGSDRLAGA GGGGAAVTVA FTNARDCFLH LPRRLVAQLH LLQNQAIEVV WSHQPAFLSW 
VEGRHFSDQG ENVAEINRQV GQKLGLSNGG QVFLKPCSHV VSCQQVEVEP LSADDWEILE 
LHAVSLEQHL LDQIRIVFPK AIFPVWVDQQ TYIFIQIVAL IPAASYGRLE TDTKLLIQPK 
TRRAKENTFS KADAEYKKLH SYGRDQKGMM KELQTKQLQS NTVGITESNE NESEIPVDSS 
SVASLWTMIG SIFSFQSEKK QETSWGLTEI NAFKNMQSKV VPLDNIFRVC KSQPPSIYNA 
SATSVFHKHC AIHVFPWDQE YFDVEPSFTV TYGKLVKLLS PKQQQSKTKQ NVLSPEKEKQ 
MSEPLDQKKI RSDHNEEDEK ACVLQVVWNG LEELNNAIKY TKNVEVLHLG KVWIPDDLRK 
RLNIEMHAVV RITPVEVTPK IPRSLKLQPR ENLPKDISEE DIKTVFYSWL QQSTTTMLPL 
VISEEEFIKL ETKDGLKEFS LSIVHSWEKE KDKNIFLLSP NLLQKTTIQV LLDPMVKEEN 
SEEIDFILPF LKLSSLGGVN SLGVSSLEHI THSLLGRPLS RQLMSLVAGL RNGALLLTGG 
KGSGKSTLAK AICKEAFDKL DAHVERVDCK ALRGKRLENI QKTLEVAFSE AVWMQPSVVL 
LDDLDLIAGL PAVPEHEHSP DAVQSQRLAH ALNDMIKEFI SMGSLVALIA TSQSQQSLHP 
LLVSAQGVHI FQCVQHIQPP NQEQRCEILC NVIKNKLDCD INKFTDLDLQ HVAKETGGFV 
ARDFTVLVDR AIHSRLSRQS ISTREKLVLT TLDFQKALRG FLPASLRSVN LHKPRDLGWD 
KIGGLHEVRQ ILMDTIQLPA KYPELFANLP IRQRTGILLY GPPGTGKTLL AGVIARESRM 
NFISVKGPEL LSKYIGASEQ AVRDIFIRAQ AAKPCILFFD EFESIAPRRG HDNTGVTDRV 
VNQLLTQLDG VEGLQGVYVL AATSRPDLID PALLRPGRLD KCVYCPPPDQ VSRLEILNVL 
SDSLPLADDV DLQHVASVTD SFTGADLKAL LYNAQLEALH GMLLSSGLQD GSSSSDSDLS 
LSSMVFLNHS SGSDDSAGDG ECGLDQSLVS LEMSEILPDE SKFNMYRLYF GSSYESELGN 
GTSSDLSSQC LSAPSSMTQD LPGVPGKDQL FSQPPVLRTA SQEGCQELTQ EQRDQLRADI 
SIIKGRYRSQ SGEDESMNQP GPIKTRLAIS QSHLMTALGH TRPSISEDDW KNFAELYESF 
QNPKRRKNQS GTMFRPGQKV TLA

Genular Protein ID: 2833730108

Symbol: A0A0C4DG33_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0C4DG33

Database IDs:

ARBA 7 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 5 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 2 GO 6 Gene3D 4 GeneTree 1 HGNC 1 InterPro 10 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 1 PeptideAtlas 1 Pfam 4 Proteomes 2 ProteomicsDB 1 RefSeq 1 Rhea 2 SAM 1 SMART 2 SUPFAM 3 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

Sequence Information:

  • Length: 1226
  • Mass: 136585
  • Checksum: 28125C8B785DA8E2
  • Sequence:
    • MWGSDRLAGA GGGGAAVTVA FTNARDCFLH LPRRLVAQLH LLQNQAIEVV WSHQPAFLSW 
VEGRHFSDQG ENVAEINRQV GQKLGLSNGG QVFLKPCSHV VSCQQVEVEP LSADDWEILE 
LHAVSLEQHL LDQIRIVFPK AIFPVWVDQQ TYIFIQIVAL IPAASYGRLE TDTKLLIQPK 
TRRAKENTFS KADAEYKKLH SYGRDQKGMM KELQTKQLQS NTVGITESNE NESEIPVDSS 
SVASLWTMIG SIFSFQSEKK QETSWGLTEI NAFKNMQSKV VPLDNIFRVC KSQPPSIYNA 
SATSVFHKHC AIHVFPWDQE YFDVEPSFTV TYGKLVKLLS PKQQQSKTKQ NVLSPEKEKQ 
MSEPLDQKKI RSDHNEEDEK ACVLQVVWNG LEELNNAIKY TKNVEVLHLG KVWIPDDLRK 
RLNIEMHAVV RITPVEVTPK IPRSLKLQPR ENLPKDISEE DIKTVFYSWL QQSTTTMLPL 
VISEEEFIKL ETKDGLKEFS LSIVHSWEKE KDKNIFLLSP NLLQKTTIQV LLDPMVKEEN 
SEEIDFILPF LKLSSLGGVN SLGVSSLEHI THSLLGRPLS RQLMSLVAGL RNGALLLTGG 
KGSGKSTLAK AICKEAFDKL DAHVERVDCK ALRALNDMIK EFISMGSLVA LIATSQSQQS 
LHPLLVSAQG VHIFQCVQHI QPPNQEQRCE ILCNVIKNKL DCDINKFTDL DLQHVAKETG 
GFVARDFTVL VDRAIHSRLS RQSISTREKL VLTTLDFQKA LRGFLPASLR SVNLHKPRDL 
GWDKIGGLHE VRQILMDTIQ LPAKYPELFA NLPIRQRTGI LLYGPPGTGK TLLAGVIARE 
SRMNFISVKG PELLSKYIGA SEQAVRDIFI RAQAAKPCIL FFDEFESIAP RRGHDNTGVT 
DRVVNQLLTQ LDGVEGLQGV YVLAATSRPD LIDPALLRPG RLDKCVYCPP PDQVSRLEIL 
NVLSDSLPLA DDVDLQHVAS VTDSFTGADL KALLYNAQLE ALHGMLLSSG LQDGSSSSDS 
DLSLSSMVFL NHSSGSDDSA GDGECGLDQS LVSLEMSEIL PDESKFNMYR LYFGSSYESE 
LGNGTSSDLS SQCLSAPSSM TQDLPGVPGK DQLFSQPPVL RTASQEGCQE LTQEQRDQLR 
ADISIIKGRY RSQSGEDESM NQPGPIKTRL AISQSHLMTA LGHTRPSISE DDWKNFAELY 
ESFQNPKRRK NQSGTMFRPG QKVTLA

Genular Protein ID: 1907666925

Symbol: B4DER6_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DER6

Database IDs:

ARBA 3 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 6 Gene3D 2 InterPro 6 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 1 PeptideAtlas 1 Pfam 2 RefSeq 1 SAM 1 SMART 2 SMR 1 SUPFAM 1

Sequence Information:

  • Length: 1075
  • Mass: 119603
  • Checksum: 552FDAF55C371506
  • Sequence:
    • MMKELQTKQL QSNTVGITES NENESEIPVD SSSVASLWTM IGSIFSFQSE KKQETSWGLT 
EINAFKNMQS KVVPLDNIFR VCKSQPPSIY NASATSVFHK HCAIHVFPWD QEYFDVEPSF 
TVTYGKLVKL LSPKQQQSKT KQNVLSPEKE KQMSEPLDQK KIRSDHNEED EKACVLQVVW 
NGLEELNNAI KYTKNVEVLH LGKVWIPDDL RKRLNIEMHA VVRITPVEVT PKIPRSLKLQ 
PRENLPKDIS EEDIKTVFYS WLQQSTTTML PLVISEEEFI KLETKDGLKE FSLSIVHSWE 
KEKDKNIFLL SPNLLQKTTI QVLLDPMVKE ENSEEIDFIL PFLKLSSLGG VNSLGVSSLE 
HITHSLLGRP LSRQLMSLVA GLRNGALLLT GGKGSGKSTL AKAICKEAFD KLDAHVERVD 
CKALRGKRLE NIQKTLEVAF SEAVWMQPSV VLLDDLDLIA GLPAVPEHEH SPDAVQSQRL 
AHALNDMIKE FISMGSLVAL IATSQSQQSL HPLLVSAQGV HIFQCVQHIQ PPNQEQRCEI 
LCNVIKNKLD CDINKFTDLD LQHVAKETGG FVARDFTVLV DRAIHSRLSR QSISTREKLV 
LTTLDFQKAL RGFLPASLRS VNLHKPRDLG WDKIGGLHEV RQILMDTIQL PAKYPELFAN 
LPIRQRTGIL LYGPPGTGKT LLAGVIARES RMNFISVKGP ELLSKYIGAS EQAVRDIFIR 
AQAAKPCILF FDEFESIAPR RGHDNTGVTD RVVNQLLTQL DGVEGLQGVY VLAATSRPDL 
IDPALLRPGR LDKCVYCPPP DQVSRLEILN VLSDSLPLAD DVDLQHVASV TDSFTGADLK 
ALLYNAQLEA LHGMLLSSGL QDGSSSSDSD LSLSSMVFLN HSSGSDDSAG DGECGLDQSL 
VSLEMSEILP DESKFNMYRL YFGSSYESEL GNGTSSDLSS QCLSAPSSMT QDLPGVPGKD 
QLFSQPPVLR TASQEGCQEL TQEQRDQLRA DISIIKGRYR SQSGEDESMN QPGPIKTRLA 
ISQSHLMTAL GHTRPSISED DWKNFAELYE SFQNPKRRKN QSGTMFRPGQ KVTLA

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.