| UniProt ID | GAN_HUMAN | |
|---|---|---|
| UniProt AC | Q9H2C0 | |
| Protein Name | Gigaxonin | |
| Gene Name | GAN | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 597 | |
| Subcellular Localization | Cytoplasm. Cytoplasm, cytoskeleton. | |
| Protein Description | Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival.. | |
| Protein Sequence | MAEGSAVSDPQHAARLLRALSSFREESRFCDAHLVLDGEEIPVQKNILAAASPYIRTKLNYNPPKDDGSTYKIELEGISVMVMREILDYIFSGQIRLNEDTIQDVVQAADLLLLTDLKTLCCEFLEGCIAAENCIGIRDFALHYCLHHVHYLATEYLETHFRDVSSTEEFLELSPQKLKEVISLEKLNVGNERYVFEAVIRWIAHDTEIRKVHMKDVMSALWVSGLDSSYLREQMLNEPLVREIVKECSNIPLSQPQQGEAMLANFKPRGYSECIVTVGGEERVSRKPTAAMRCMCPLYDPNRQLWIELAPLSMPRINHGVLSAEGFLFVFGGQDENKQTLSSGEKYDPDANTWTALPPMNEARHNFGIVEIDGMLYILGGEDGEKELISMECYDIYSKTWTKQPDLTMVRKIGCYAAMKKKIYAMGGGSYGKLFESVECYDPRTQQWTAICPLKERRFGAVACGVAMELYVFGGVRSREDAQGSEMVTCKSEFYHDEFKRWIYLNDQNLCIPASSSFVYGAVPIGASIYVIGDLDTGTNYDYVREFKRSTGTWHHTKPLLPSDLRRTGCAALRIANCKLFRLQLQQGLFRIRVHSP | |
| Overview of Protein Modification Sites with Functional and Structural Information | ||
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* ASA = Accessible Surface Area
| Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
|---|---|---|---|---|---|
| 21 | Phosphorylation | ARLLRALSSFREESR HHHHHHHHHHHHHHC | 26.84 | 24719451 | |
| 45 | Ubiquitination | GEEIPVQKNILAAAS CCCCCCCCCHHHHHC | 46.30 | - | |
| 52 | Phosphorylation | KNILAAASPYIRTKL CCHHHHHCCCCEEEC | 17.32 | 29396449 | |
| 54 | Phosphorylation | ILAAASPYIRTKLNY HHHHHCCCCEEECCC | 10.67 | 21406692 | |
| 57 | Phosphorylation | AASPYIRTKLNYNPP HHCCCCEEECCCCCC | 30.26 | 29396449 | |
| 58 | Ubiquitination | ASPYIRTKLNYNPPK HCCCCEEECCCCCCC | 25.53 | - | |
| 61 | Phosphorylation | YIRTKLNYNPPKDDG CCEEECCCCCCCCCC | 39.21 | 29396449 | |
| 79 | Phosphorylation | KIELEGISVMVMREI EEEEECEEEEEHHHH | 18.28 | 25690035 | |
| 174 | Phosphorylation | TEEFLELSPQKLKEV HHHHHHCCHHHHHHH | 18.86 | 25159151 | |
| 177 | Ubiquitination | FLELSPQKLKEVISL HHHCCHHHHHHHHEE | 65.98 | - | |
| 179 | Ubiquitination | ELSPQKLKEVISLEK HCCHHHHHHHHEEEE | 57.90 | - | |
| 183 | Phosphorylation | QKLKEVISLEKLNVG HHHHHHHEEEECCCC | 35.33 | 22210691 | |
| 207 | O-linked_Glycosylation | IRWIAHDTEIRKVHM HHHHHCCCCCCCHHH | 24.36 | 28510447 | |
| 219 | O-linked_Glycosylation | VHMKDVMSALWVSGL HHHHHHHHHHHHCCC | 21.76 | 28510447 | |
| 224 | O-linked_Glycosylation | VMSALWVSGLDSSYL HHHHHHHCCCCHHHH | 23.27 | 28510447 | |
| 228 | O-linked_Glycosylation | LWVSGLDSSYLREQM HHHCCCCHHHHHHHH | 26.40 | 28510447 | |
| 229 | O-linked_Glycosylation | WVSGLDSSYLREQML HHCCCCHHHHHHHHH | 28.05 | 28510447 | |
| 246 | Ubiquitination | PLVREIVKECSNIPL HHHHHHHHHHCCCCC | 59.68 | - | |
| 249 | O-linked_Glycosylation | REIVKECSNIPLSQP HHHHHHHCCCCCCCC | 38.60 | 28510447 | |
| 254 | O-linked_Glycosylation | ECSNIPLSQPQQGEA HHCCCCCCCCCCCCC | 34.16 | 28510447 | |
| 272 | O-linked_Glycosylation | NFKPRGYSECIVTVG CCCCCCCCEEEEEEC | 28.90 | 28510447 | |
| 277 | O-linked_Glycosylation | GYSECIVTVGGEERV CCCEEEEEECCCCCC | 8.10 | 28510447 | |
| 313 | Phosphorylation | WIELAPLSMPRINHG EEEEECCCCCCCCCC | 26.19 | 28674151 | |
| 346 | Ubiquitination | QTLSSGEKYDPDANT EECCCCCCCCCCCCC | 59.48 | 21906983 | |
| 390 | Phosphorylation | DGEKELISMECYDIY CCCEEEEEEEEEEHH | 22.58 | 22210691 | |
| 397 | Phosphorylation | SMECYDIYSKTWTKQ EEEEEEHHCCCCCCC | 10.96 | 22210691 | |
| 398 | Phosphorylation | MECYDIYSKTWTKQP EEEEEHHCCCCCCCC | 24.76 | 22210691 | |
| 403 | Ubiquitination | IYSKTWTKQPDLTMV HHCCCCCCCCCCHHH | 51.93 | - | |
| 416 | Phosphorylation | MVRKIGCYAAMKKKI HHHHHCHHHHHHHEE | 7.68 | - | |
| 424 | Phosphorylation | AAMKKKIYAMGGGSY HHHHHEEEEECCCHH | 10.22 | 21406692 | |
| 430 | Phosphorylation | IYAMGGGSYGKLFES EEEECCCHHHHHHCE | 33.71 | 21406692 | |
| 431 | Phosphorylation | YAMGGGSYGKLFESV EEECCCHHHHHHCEE | 22.89 | 21406692 | |
| 464 | S-nitrosylation | RRFGAVACGVAMELY CCCCCHHHCCEEEEE | 3.46 | 22178444 | |
| 471 | Phosphorylation | CGVAMELYVFGGVRS HCCEEEEEEECCCCC | 4.76 | 22997577 | |
| 500 | Ubiquitination | EFYHDEFKRWIYLND EEECHHHCCEEEECC | 44.79 | - | |
| 579 | Acetylation | ALRIANCKLFRLQLQ HHHHCCCEEEEEEHH | 50.93 | 25953088 | |
| 579 | Ubiquitination | ALRIANCKLFRLQLQ HHHHCCCEEEEEEHH | 50.93 | - | |
| 596 | Phosphorylation | LFRIRVHSP------ EEEEEECCC------ | 29.46 | 24719451 |
| Modified Location | Modified Residue | Modification | Type of Upstream Proteins | Gene Name of Upstream Proteins | UniProt AC of Upstream Proteins | Sources |
|---|---|---|---|---|---|---|
Oops, there are no upstream regulatory protein records of GAN_HUMAN !! | ||||||
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of GAN_HUMAN !! | ||||||
* Distance = the distance between SAP position and PTM sites.
| Modified Location | Modification | Variant Position (Distance <= 10) |
Residue Change | SAP | Related Disease | Reference |
|---|---|---|---|---|---|---|
Oops, there are no SNP-PTM records of GAN_HUMAN !! | ||||||
| Kegg Disease | ||||||
|---|---|---|---|---|---|---|
| There are no disease associations of PTM sites. | ||||||
| OMIM Disease | ||||||
| 256850 | Giant axonal neuropathy 1, autosomal recessive (GAN1) | |||||
| Kegg Drug | ||||||
| There are no disease associations of PTM sites. | ||||||
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
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| Phosphorylation | |
| Reference | PubMed |
| "Global, in vivo, and site-specific phosphorylation dynamics insignaling networks."; Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P.,Mann M.; Cell 127:635-648(2006). Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-471, AND MASSSPECTROMETRY. | |
