| UniProt ID | CI072_HUMAN | |
|---|---|---|
| UniProt AC | Q96LT7 | |
| Protein Name | Guanine nucleotide exchange C9orf72 {ECO:0000305} | |
| Gene Name | C9orf72 | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 481 | |
| Subcellular Localization | Nucleus . Cytoplasm . Cytoplasm, P-body . Cytoplasm, Stress granule . Endosome . Lysosome . Cytoplasmic vesicle, autophagosome . Secreted . Cell projection, axon . Cell projection, growth cone . Perikaryon . Detected in the cytoplasm of neurons from | |
| Protein Description | Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy. [PubMed: 27193190] | |
| Protein Sequence | MSTLCPPPSPAVAKTEIALSGKSPLLAATFAYWDNILGPRVRHIWAPKTEQVLLSDGEITFLANHTLNGEILRNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDRSTYGLSIILPQTELSFYLPLHRVCVDRLTHIIRKGRIWMHKERQENVQKIILEGTERMEDQGQSIIPMLTGEVIPVMELLSSMKSHSVPEEIDIADTVLNDDDIGDSCHEGFLLNAISSHLQTCGCSVVVGSSAEKVNKIVRTLCLFLTPAERKCSRLCEAESSFKYESGLFVQGLLKDSTGSFVLPFRQVMYAPYPTTHIDVDVNTVKQMPPCHEHIYNQRRYMRSELTAFWRATSEEDMAQDTIIYTDESFTPDLNIFQDVLHRDTLVKAFLDQVFQLKPGLSLRSTFLAQFLLVLHRKALTLIKYIEDDTQKGKKPFKSLRNLKIDLDLTAEGDLNIIMALAEKIKPGLHSFIFGRPFYTSVQERDVLMTF | |
| 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 |
|---|---|---|---|---|---|
| 2 | Phosphorylation | ------MSTLCPPPS ------CCCCCCCCC | 30.04 | 23663014 | |
| 3 | Phosphorylation | -----MSTLCPPPSP -----CCCCCCCCCC | 30.95 | 23663014 | |
| 9 | Phosphorylation | STLCPPPSPAVAKTE CCCCCCCCCCCCEEE | 31.12 | 23663014 | |
| 15 | Phosphorylation | PSPAVAKTEIALSGK CCCCCCEEEECCCCC | 23.92 | 23663014 | |
| 20 | Phosphorylation | AKTEIALSGKSPLLA CEEEECCCCCCHHHH | 34.84 | 23663014 | |
| 388 | Ubiquitination | LDQVFQLKPGLSLRS HHHHHHCCCCCCHHH | 26.68 | 22817900 | |
| 388 (in isoform 1) | Ubiquitination | - | 26.68 | 21890473 | |
| 396 | Phosphorylation | PGLSLRSTFLAQFLL CCCCHHHHHHHHHHH | 19.08 | 23532336 | |
| 411 | Phosphorylation | VLHRKALTLIKYIED HHHHHHHHHHHHHCC | 31.15 | 23532336 | |
| 429 | Phosphorylation | KGKKPFKSLRNLKID CCCCCCHHHHCCEEC | 32.70 | 24719451 | |
| 440 | Phosphorylation | LKIDLDLTAEGDLNI CEECEEECCCCCHHH | 23.48 | - |
| 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 CI072_HUMAN !! | ||||||
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of CI072_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 CI072_HUMAN !! | ||||||
| Interacting Protein | Gene Name | Interaction Type | PPI Reference | Domain-Domain Interactions |
|---|---|---|---|---|
| A4_HUMAN | APP | physical | 21832049 | |
| EI2BB_HUMAN | EIF2B2 | physical | 21516116 |
| Kegg Disease | ||||||
|---|---|---|---|---|---|---|
| There are no disease associations of PTM sites. | ||||||
| OMIM Disease | ||||||
| 105550 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (FTDALS1) | |||||
| Kegg Drug | ||||||
| There are no disease associations of PTM sites. | ||||||
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
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