Q96C11 (FGGY_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 83.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: FGGY carbohydrate kinase domain-containing protein EC=2.7.1.- | ||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 551 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Tissue specificity | Expressed in kidney, lung and small intestine and to a lower extent in liver and detected in cerebrospinal fluid (at protein level). Ref.5 |
| Developmental stage | Expressed in fetal brain (at protein level). Ref.5 |
| Involvement in disease | 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. |
| Sequence similarities | Belongs to the FGGY kinase family. |
| Sequence caution | The sequence AAH14947.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Amyotrophic lateral sclerosis Neurodegeneration |
| Molecular function | Kinase Transferase |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | carbohydrate metabolic process Inferred from electronic annotation. Source: InterPro cell deathInferred from electronic annotation. Source: UniProtKB-KW neuron homeostasisInferred from mutant phenotype Ref.5. Source: UniProtKB |
| Molecular_function | kinase activity Inferred from electronic annotation. Source: UniProtKB-KW phosphotransferase activity, alcohol group as acceptorInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q96C11-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q96C11-2) The sequence of this isoform differs from the canonical sequence as follows: 1-112: Missing. 359-551: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q96C11-4) The sequence of this isoform differs from the canonical sequence as follows: 1-112: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q96C11-3) The sequence of this isoform differs from the canonical sequence as follows: 407-407: M → MRTTGYLYIPALAALHSPSSLLSPQ | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q96C11-5) The sequence of this isoform differs from the canonical sequence as follows: 68-155: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 551 | 551 | FGGY carbohydrate kinase domain-containing protein | PRO_0000326452 | |||||
Natural variations | |||||||||
| Alternative sequence | 1 – 112 | 112 | Missing in isoform 2 and isoform 3. | VSP_032658 | |||||
| Alternative sequence | 68 – 155 | 88 | Missing in isoform 5. | VSP_045338 | |||||
| Alternative sequence | 359 – 551 | 193 | Missing in isoform 2. | VSP_032659 | |||||
| Alternative sequence | 407 | 1 | M → MRTTGYLYIPALAALHSPSS LLSPQ in isoform 4. | VSP_033424 | |||||
| Natural variant | 43 | 1 | N → K. Corresponds to variant rs835409 [ dbSNP | Ensembl ]. | VAR_059193 | |||||
| Natural variant | 134 | 1 | L → V. Corresponds to variant rs11207463 [ dbSNP | Ensembl ]. | VAR_040072 | |||||
| Natural variant | 246 | 1 | L → V. Corresponds to variant rs11207463 [ dbSNP | Ensembl ]. | VAR_059194 | |||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AK022237 mRNA. Translation: BAB13993.1. AK054842 mRNA. Translation: BAG51432.1. AK315649 mRNA. Translation: BAG38015.1. AL954338 Genomic DNA. No translation available. AL713859 BX119322 Genomic DNA. Translation: CAH71629.1.AL390234 BX119322 Genomic DNA. Translation: CAI18949.1.BX119322 AL713859 Genomic DNA. Translation: CAI22210.1.AL035416 BX119322 Genomic DNA. Translation: CAI22776.1.AL713859 BX119322 Genomic DNA. Translation: CAH71628.1.AL390234 BX119322 Genomic DNA. Translation: CAI18948.1.BX119322 AL713859 Genomic DNA. Translation: CAI22209.1.AL035416 BX119322 Genomic DNA. Translation: CAI22775.1.AL713859 BX119322 Genomic DNA. Translation: CAH71630.1.AL390234 BX119322 Genomic DNA. Translation: CAI18947.1.BX119322 AL713859 Genomic DNA. Translation: CAI22211.1.AL035416 BX119322 Genomic DNA. Translation: CAI22777.1.CH471059 Genomic DNA. Translation: EAX06621.1. CH471059 Genomic DNA. Translation: EAX06622.1. CH471059 Genomic DNA. Translation: EAX06623.1. CH471059 Genomic DNA. Translation: EAX06624.1. BC014947 mRNA. Translation: AAH14947.1. Different initiation. |
| IPI | IPI00478961. IPI00479683. IPI00641302. IPI00892757. |
| RefSeq | NP_001106882.1. NM_001113411.1. NP_001231643.1. NM_001244714.1. NP_060761.3. NM_018291.3. |
| UniGene | Hs.444301. |
3D structure databases | |
| ProteinModelPortal | Q96C11. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000360262. |
PTM databases | |
| PhosphoSite | Q96C11. |
Polymorphism databases | |
| DMDM | 172045850. |
Proteomic databases | |
| PaxDb | Q96C11. |
| PRIDE | Q96C11. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000303721; ENSP00000305922; ENSG00000172456. ENST00000371212; ENSP00000360256; ENSG00000172456. ENST00000371218; ENSP00000360262; ENSG00000172456. |
| GeneID | 55277. |
| KEGG | hsa:55277. |
| UCSC | uc001czg.2. human. uc001czi.4. human. uc009wac.3. human. |
Organism-specific databases | |
| CTD | 55277. |
| GeneCards | GC01P059762. |
| HGNC | HGNC:25610. FGGY. |
| HPA | HPA052442. HPA054971. |
| MIM | 105400. phenotype. 611370. gene. |
| neXtProt | NX_Q96C11. |
| PharmGKB | PA162388453. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG1069. |
| HOGENOM | HOG000222136. |
| HOVERGEN | HBG055703. |
| OMA | WKATGVT. |
Gene expression databases | |
| ArrayExpress | Q96C11. |
| Bgee | Q96C11. |
| CleanEx | HS_FGGY. |
| Genevestigator | Q96C11. |
Family and domain databases | |
| InterPro | IPR006003. Carb_kinase_FGGY-rel. IPR018485. Carb_kinase_FGGY_C. IPR018484. Carb_kinase_FGGY_N. [Graphical view] |
| Pfam | PF02782. FGGY_C. 1 hit. PF00370. FGGY_N. 1 hit. [Graphical view] |
| TIGRFAMs | TIGR01315. 5C_CHO_kinase. 1 hit. |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 55277. |
| NextBio | 59413. |
| SOURCE | Search... |
Entry information
| Entry name | FGGY_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96C11 Secondary accession number(s): B1AK92 Q9HA63 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
