O14772 (FPGT_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 97.
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: Fucose-1-phosphate guanylyltransferase EC=2.7.7.30 Alternative name(s): GDP-L-fucose diphosphorylase GDP-L-fucose pyrophosphorylase | ||||
| 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 | 594 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Catalyzes the formation of GDP-L-fucose from GTP and L-fucose-1-phosphate. Functions as a salvage pathway to reutilize L-fucose arising from the turnover of glycoproteins and glycolipids. |
| Catalytic activity | GTP + beta-L-fucose 1-phosphate = diphosphate + GDP-L-fucose. |
| Subcellular location | |
| Tissue specificity | Expressed in many tissues. |
| Sequence caution | The sequence BAG65299.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Ligand | GTP-binding Nucleotide-binding |
| Molecular function | Nucleotidyltransferase Transferase |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | fucose metabolic process Traceable author statement Ref.1. Source: ProtInc |
| Cellular_component | cytoplasm Traceable author statement Ref.1. Source: ProtInc |
| Molecular_function | GTP binding Inferred from electronic annotation. Source: UniProtKB-KW catalytic activityTraceable author statement Ref.1. Source: ProtInc fucose-1-phosphate guanylyltransferase activityInferred from electronic annotation. Source: EC |
| Complete GO annotation... | |
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 2 (identifier: O14772-1) 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 1 (identifier: Q59H18-1) The sequence of this isoform can be found in the external entry Q59H18. Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly. | ||||||
| Note: Based on a naturally occurring readthrough transcript which produces a FPGT-TNNI3K fusion protein. | ||||||
| Isoform 3 (identifier: Q59H18-3) The sequence of this isoform can be found in the external entry Q59H18. Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly. | ||||||
| Note: Based on a naturally occurring readthrough transcript which produces a FPGT-TNNI3K fusion protein. | ||||||
| Isoform 4 (identifier: Q59H18-4) The sequence of this isoform can be found in the external entry Q59H18. Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly. | ||||||
| Note: Based on a naturally occurring readthrough transcript which produces a FPGT-TNNI3K fusion protein. | ||||||
| Isoform 5 (identifier: O14772-2) The sequence of this isoform differs from the canonical sequence as follows: 137-390: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 6 (identifier: O14772-3) The sequence of this isoform differs from the canonical sequence as follows: 115-594: GGYSQRLPNA...LEISLKSSLM → VSFQIYQNAL...KTALLVVLTS | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 594 | 594 | Fucose-1-phosphate guanylyltransferase | PRO_0000087327 | |||||
Natural variations | |||||||||
| Alternative sequence | 115 – 594 | 480 | GGYSQ…KSSLM → VSFQIYQNALAKHPVSFKAY WIQDVLWHLAQLWSIPDWGL MFQLGKTALLVVLTS in isoform 6. | VSP_046460 | |||||
| Alternative sequence | 137 – 390 | 254 | Missing in isoform 5. | VSP_045076 | |||||
| Natural variant | 448 | 1 | P → L. Corresponds to variant rs55882158 [ dbSNP | Ensembl ]. | VAR_061650 | |||||
Experimental info | |||||||||
| Sequence conflict | 44 | 1 | A → T in BAG61434. Ref.2 | ||||||
| Sequence conflict | 322 | 1 | N → H in AAC73005. Ref.1 | ||||||
| Sequence conflict | 549 | 1 | K → R in BAG61434. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "GDP-L-fucose pyrophosphorylase: purification, cDNA cloning, and properties of the enzyme." Pastuszak I., Ketchum C., Hermanson G., Sjoberg E.J., Drake R., Elbein A.D. J. Biol. Chem. 273:30165-30174(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2), CHARACTERIZATION. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 5 AND 6). Tissue: Tongue and Uterus. |
| [3] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Colon and Kidney. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF017445 mRNA. Translation: AAC73005.1. AF017446 Genomic DNA. Translation: AAC82511.1. AK299468 mRNA. Translation: BAG61434.1. AK304490 mRNA. Translation: BAG65299.1. Sequence problems. AC098692 Genomic DNA. No translation available. BC032308 mRNA. Translation: AAH32308.1. |
| IPI | IPI00021943. IPI00646389. IPI00910006. IPI00910762. |
| RefSeq | NP_001186257.1. NM_001199328.1. NP_003829.2. NM_003838.3. |
| UniGene | Hs.480085. |
3D structure databases | |
| ProteinModelPortal | O14772. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000359928. |
Proteomic databases | |
| PaxDb | O14772. |
| PRIDE | O14772. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000370894; ENSP00000359931; ENSG00000254685. ENST00000370898; ENSP00000359935; ENSG00000254685. ENST00000534056; ENSP00000432819; ENSG00000254685. |
| GeneID | 8790. |
| KEGG | hsa:8790. |
| UCSC | uc001dgb.2. human. |
Organism-specific databases | |
| CTD | 8790. |
| GeneCards | GC01P074663. |
| HGNC | HGNC:3825. FPGT. |
| MIM | 603609. gene. |
| neXtProt | NX_O14772. |
| PharmGKB | PA28243. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0666. |
| HOGENOM | HOG000067964. |
| HOVERGEN | HBG025123. |
| KO | K00976. |
| OMA | KLAMYVD. |
| OrthoDB | EOG4FFD1F. |
| PhylomeDB | O14772. |
Gene expression databases | |
| ArrayExpress | O14772. |
| Bgee | O14772. |
| CleanEx | HS_FPGT. |
| Genevestigator | O14772. |
| GermOnline | ENSG00000116783. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR012887. Fucokinase. IPR012120. Fucose-1-phosphate_GuaTrfase. [Graphical view] |
| Pfam | PF07959. Fucokinase. 1 hit. [Graphical view] |
| PIRSF | PIRSF036640. FPGT. 1 hit. |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 8790. |
| NextBio | 32968. |
| SOURCE | Search... |
Entry information
| Entry name | FPGT_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O14772 Secondary accession number(s): A6NMH3 Q8N5J7 | ||||||||
| 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 |

Clusters with
