Version 5.4
| Homo sapiens Protein: FGGY | |||||||||
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| Summary | |||||||||
| InnateDB Protein | IDBP-99238.6 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | FGGY | ||||||||
| Protein Name | FGGY carbohydrate kinase domain containing | ||||||||
| Synonyms | |||||||||
| Species | Homo sapiens | ||||||||
| Ensembl Protein | ENSP00000305922 | ||||||||
| InnateDB Gene | IDBG-99234 (FGGY) | ||||||||
| Protein Structure |
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| UniProt Annotation | |||||||||
| Function | |||||||||
| Subcellular Localization | |||||||||
| Disease Associations | Amyotrophic lateral sclerosis (ALS) [MIM:105400]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5- 10% of the cases. {ECO:0000269PubMed:17671248}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. | ||||||||
| Tissue Specificity | Expressed in kidney, lung and small intestine and to a lower extent in liver and detected in cerebrospinal fluid (at protein level). {ECO:0000269PubMed:17671248}. | ||||||||
| Comments | |||||||||
| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||
| PDB ID | |||||||||
| InterPro |
IPR006003
Carbohydrate kinase, FGGY-related IPR018484 Carbohydrate kinase, FGGY, N-terminal IPR018485 Carbohydrate kinase, FGGY, C-terminal |
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| PFAM |
PF00370
PF02782 |
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| PRINTS | |||||||||
| PIRSF | |||||||||
| SMART | |||||||||
| TIGRFAMs | |||||||||
| Post-translational Modifications | |||||||||
| Modification | |||||||||
| Cross-References | |||||||||
| SwissProt | Q96C11 | ||||||||
| PhosphoSite | PhosphoSite-Q96C11 | ||||||||
| TrEMBL | J3QKV9 | ||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 55277 | ||||||||
| UniGene | Hs.444301 | ||||||||
| RefSeq | NP_060761 | ||||||||
| HUGO | HGNC:25610 | ||||||||
| OMIM | 611370 | ||||||||
| CCDS | CCDS611 | ||||||||
| HPRD | 07721 | ||||||||
| IMGT | |||||||||
| EMBL | AC093424 AK001848 AK022237 AK054842 AK315649 AL035416 AL390234 AL713859 AL954338 BC014947 BX119322 CH471059 | ||||||||
| GenPept | AAH14947 BAA91940 BAB13993 BAG38015 BAG51432 CAH71628 CAH71629 CAH71630 CAI18947 CAI18948 CAI18949 CAI22209 CAI22210 CAI22211 CAI22775 CAI22776 CAI22777 EAX06619 EAX06621 EAX06622 EAX06623 EAX06624 | ||||||||