Details for: GAN

Gene ID: 8139

Symbol: GAN

Ensembl ID: ENSG00000261609

Description: gigaxonin

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: 193.5128
    Cell Significance Index: -30.1000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 117.0147
    Cell Significance Index: -29.6800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 64.6442
    Cell Significance Index: -30.5200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 62.1528
    Cell Significance Index: -25.2500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 26.4679
    Cell Significance Index: -25.2700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 25.0942
    Cell Significance Index: -30.9400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.8889
    Cell Significance Index: -31.1300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 7.2181
    Cell Significance Index: -22.1700
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 2.8863
    Cell Significance Index: 40.3600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.6729
    Cell Significance Index: 138.8500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 2.1384
    Cell Significance Index: 59.7600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.1769
    Cell Significance Index: 1062.6300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.0679
    Cell Significance Index: 173.6900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.8144
    Cell Significance Index: 163.3700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.7960
    Cell Significance Index: 285.5200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6582
    Cell Significance Index: 130.6200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.6457
    Cell Significance Index: 13.9900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6398
    Cell Significance Index: 69.5900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.6134
    Cell Significance Index: 38.6600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.5965
    Cell Significance Index: 45.7800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5430
    Cell Significance Index: 15.6500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5268
    Cell Significance Index: 52.1100
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.5073
    Cell Significance Index: 7.6500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.4376
    Cell Significance Index: 51.0000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3636
    Cell Significance Index: 16.4800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.3590
    Cell Significance Index: 7.8600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2983
    Cell Significance Index: 131.8800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2845
    Cell Significance Index: 196.7500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2534
    Cell Significance Index: 17.5300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2497
    Cell Significance Index: 15.3500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2220
    Cell Significance Index: 13.3300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1881
    Cell Significance Index: 24.3100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1693
    Cell Significance Index: 5.9500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.1672
    Cell Significance Index: 1.5400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1625
    Cell Significance Index: 9.1200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1490
    Cell Significance Index: 28.3600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1485
    Cell Significance Index: 81.0800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1457
    Cell Significance Index: 3.8900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1394
    Cell Significance Index: 10.3900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1148
    Cell Significance Index: 72.9000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1119
    Cell Significance Index: 50.7700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.1117
    Cell Significance Index: 2.8700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0969
    Cell Significance Index: 17.4700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0860
    Cell Significance Index: 4.0100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0719
    Cell Significance Index: 8.8400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0534
    Cell Significance Index: 7.3300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0515
    Cell Significance Index: 96.9300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0361
    Cell Significance Index: 0.4300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0212
    Cell Significance Index: 39.0200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0205
    Cell Significance Index: 31.5000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0173
    Cell Significance Index: 0.9100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0107
    Cell Significance Index: 14.5500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0215
    Cell Significance Index: -0.5900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0239
    Cell Significance Index: -0.4100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0287
    Cell Significance Index: -21.0100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0350
    Cell Significance Index: -25.9200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0386
    Cell Significance Index: -29.2100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0428
    Cell Significance Index: -2.8800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0532
    Cell Significance Index: -30.0100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0542
    Cell Significance Index: -33.8300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0557
    Cell Significance Index: -1.5900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0638
    Cell Significance Index: -0.8700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0688
    Cell Significance Index: -11.7400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0752
    Cell Significance Index: -5.3200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0798
    Cell Significance Index: -1.7000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0872
    Cell Significance Index: -12.6800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0898
    Cell Significance Index: -25.8300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1264
    Cell Significance Index: -14.4900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1326
    Cell Significance Index: -3.1800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1430
    Cell Significance Index: -14.6100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1509
    Cell Significance Index: -9.7400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1598
    Cell Significance Index: -20.4800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1679
    Cell Significance Index: -35.3600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1846
    Cell Significance Index: -3.8300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1954
    Cell Significance Index: -23.0400
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: -0.2332
    Cell Significance Index: -2.0700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2406
    Cell Significance Index: -25.0500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2541
    Cell Significance Index: -11.2400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2667
    Cell Significance Index: -12.5400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2707
    Cell Significance Index: -8.6700
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.2821
    Cell Significance Index: -4.2900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3056
    Cell Significance Index: -15.9200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3080
    Cell Significance Index: -18.8900
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.3412
    Cell Significance Index: -5.9000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3437
    Cell Significance Index: -27.2300
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.3495
    Cell Significance Index: -4.9800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3554
    Cell Significance Index: -12.3500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3911
    Cell Significance Index: -14.8100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.4519
    Cell Significance Index: -8.8200
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.4552
    Cell Significance Index: -6.7200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.5286
    Cell Significance Index: -11.2200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.5587
    Cell Significance Index: -9.3500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5730
    Cell Significance Index: -18.2500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5925
    Cell Significance Index: -19.4000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6412
    Cell Significance Index: -18.8900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.6701
    Cell Significance Index: -24.6000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.6734
    Cell Significance Index: -23.5900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.7024
    Cell Significance Index: -15.0200
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.7203
    Cell Significance Index: -11.8700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.7227
    Cell Significance Index: -14.5100

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:** Gigaxonin is a protein-coding gene with an Ensembl ID of ENSG00000261609. Its expression is observed in a range of cell types, including mature astrocytes, corneal epithelial cells, conjunctival epithelial cells, and basal epithelial cells of the tracheobronchial tree. The gene is also associated with various cellular processes, including cytoskeleton organization, protein binding, protein ubiquitination, and neddylation. Notably, gigaxonin's involvement in the adaptive immune system, antigen processing, and protein modification pathways has sparked interest in its potential role as a regulatory molecule. **Pathways and Functions:** Gigaxonin's involvement in the adaptive immune system is evident through its association with the cul3-ring ubiquitin ligase complex, which is responsible for protein degradation and ubiquitination. This process is crucial for the presentation of antigens to Class I MHC molecules, a critical step in the immune response. Additionally, gigaxonin's role in protein modification pathways, such as neddylation and ubiquitination, underscores its potential as a regulator of protein function and degradation. Furthermore, gigaxonin's expression in various cell types suggests its involvement in maintaining cellular homeostasis and regulating cellular processes. Its association with cytoskeleton organization and protein binding further supports its potential role as a scaffolding protein or adapter molecule. **Clinical Significance:** While gigaxonin's exact function remains unclear, its involvement in the adaptive immune system and antigen processing pathways suggests its potential as a therapeutic target for autoimmune disorders or immunodeficiencies. For instance, gigaxonin's role in regulating protein degradation and presentation to Class I MHC molecules makes it an attractive candidate for the development of novel immunotherapies. Furthermore, gigaxonin's expression in various cell types and its involvement in cellular processes such as cytoskeleton organization and protein binding suggest its potential as a biomarker for various diseases, including neurodegenerative disorders or cancer. In conclusion, gigaxonin's involvement in the adaptive immune system, antigen processing, and protein modification pathways underscores its potential as a regulatory molecule with significant clinical implications. Further research is necessary to fully elucidate gigaxonin's function and its potential applications in medicine. **References:** * [Insert references to relevant research articles or studies on gigaxonin] Note: As gigaxonin is not a well-studied gene, the references cited in the article are hypothetical and would need to be replaced with actual research articles or studies on the topic.

Genular Protein ID: 1231550238

Symbol: GAN_HUMAN

Name: Gigaxonin

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11062483

Title: The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.

PubMed ID: 11062483

DOI: 10.1038/81701

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: 12147674

Title: Microtubule-associated protein 1B: a neuronal binding partner for gigaxonin.

PubMed ID: 12147674

DOI: 10.1083/jcb.200202055

PubMed ID: 14528312

Title: Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases.

PubMed ID: 14528312

DOI: 10.1038/ncb1056

PubMed ID: 16303566

Title: Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway.

PubMed ID: 16303566

DOI: 10.1016/j.cub.2005.10.052

PubMed ID: 15983046

Title: Ubiquitination of Keap1, a BTB-Kelch substrate adaptor protein for Cul3, targets Keap1 for degradation by a proteasome-independent pathway.

PubMed ID: 15983046

DOI: 10.1074/jbc.m501279200

PubMed ID: 16227972

Title: Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival.

PubMed ID: 16227972

DOI: 10.1038/nature04256

PubMed ID: 19424503

Title: Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level.

PubMed ID: 19424503

DOI: 10.1371/journal.pone.0005492

PubMed ID: 19818708

Title: Structures of SPOP-substrate complexes: insights into molecular architectures of BTB-Cul3 ubiquitin ligases.

PubMed ID: 19818708

DOI: 10.1016/j.molcel.2009.09.022

PubMed ID: 11971098

Title: Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.

PubMed ID: 11971098

DOI: 10.1212/wnl.58.8.1273

PubMed ID: 12655563

Title: Identification of seven novel mutations in the GAN gene.

PubMed ID: 12655563

DOI: 10.1002/humu.9122

PubMed ID: 17578852

Title: New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy.

PubMed ID: 17578852

DOI: 10.1136/jnnp.2007.118968

PubMed ID: 17587580

Title: Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).

PubMed ID: 17587580

DOI: 10.1016/j.nmd.2007.03.012

PubMed ID: 24627108

Title: Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.

PubMed ID: 24627108

DOI: 10.1007/s00415-014-7289-8

Sequence Information:

  • Length: 597
  • Mass: 67638
  • Checksum: 4B6ECFA6849880C7
  • Sequence:
  • MAEGSAVSDP QHAARLLRAL SSFREESRFC DAHLVLDGEE IPVQKNILAA ASPYIRTKLN 
    YNPPKDDGST YKIELEGISV MVMREILDYI FSGQIRLNED TIQDVVQAAD LLLLTDLKTL 
    CCEFLEGCIA AENCIGIRDF ALHYCLHHVH YLATEYLETH FRDVSSTEEF LELSPQKLKE 
    VISLEKLNVG NERYVFEAVI RWIAHDTEIR KVHMKDVMSA LWVSGLDSSY LREQMLNEPL 
    VREIVKECSN IPLSQPQQGE AMLANFKPRG YSECIVTVGG EERVSRKPTA AMRCMCPLYD 
    PNRQLWIELA PLSMPRINHG VLSAEGFLFV FGGQDENKQT LSSGEKYDPD ANTWTALPPM 
    NEARHNFGIV EIDGMLYILG GEDGEKELIS MECYDIYSKT WTKQPDLTMV RKIGCYAAMK 
    KKIYAMGGGS YGKLFESVEC YDPRTQQWTA ICPLKERRFG AVACGVAMEL YVFGGVRSRE 
    DAQGSEMVTC KSEFYHDEFK RWIYLNDQNL CIPASSSFVY GAVPIGASIY VIGDLDTGTN 
    YDYVREFKRS TGTWHHTKPL LPSDLRRTGC AALRIANCKL FRLQLQQGLF RIRVHSP

Genular Protein ID: 4278389674

Symbol: B3KTC3_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 597
  • Mass: 67637
  • Checksum: 4B60C146649880C7
  • Sequence:
  • MAEGSAVSDP QHAARLLRAL SSFREESRFC DAHLVLDGEE IPVQKNILAA ASPYIRTKLN 
    YNPPKDDGST YKIELEGISV MVMREILDYI FSGQIRLNED TIQDVVQAAD LLLLTDLKTL 
    CCEFLEGCIA AENCIGIRDF ALHYCLHHVH YLATEYLETH FRDVSSTEEF LELSPQKLKE 
    VISLEKLNVG NERYVFEAVI RWIAHDTEIR KVHMKDVMSA LWVSGLDSSY LREQMLNEPL 
    VREIVKECSN IPLSQPQQGE AMLANFKPRG YSECIVTVGG EERVSRKPTA AMRCMCPLYD 
    PNRQLWIELA PLSMPRINHG VLSAEGFLFV FGGQDENKQT LSSGEKYDPD ANTWTALPPM 
    NEARHNFGIV EIDGMLYILG GEDGEKELIS MECYDIYSKT WTKQPDLTMV RKIGCYAAMK 
    KKIYAMGGGS YGKLFESVEC YDPRTQQWTA ICPLKERRFG AVACGVAMEL YVFGGVRSRE 
    DAQGSEMVTC KSEFYHDEFK RWIYLNDQNL CIPASSSFVY GAVPIGASIY VIGDLDTGTN 
    YDYVREFKRS TGTWHHTKPL LPSNLRRTGC AALRIANCKL FRLQLQQGLF RIRVHSP

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.