Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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23509 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Protein O-fucosyltransferase 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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POFUT1 |
SynonymsGene synonyms aliases
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DDD2, FUT12, O-FUT, O-Fuc-T, O-FucT-1, OFUCT1 |
ChromosomeChromosome number
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20 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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20q11.21 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted pr |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs398123038 |
G>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
rs886041033 |
A>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
rs1569152303 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q9H488 |
Protein name |
GDP-fucose protein O-fucosyltransferase 1 (EC 2.4.1.221) (Peptide-O-fucosyltransferase 1) (O-FucT-1) |
Protein function |
Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteine |
PDB |
5UX6
,
5UXH
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF10250 |
O-FucT |
34 → 369 |
GDP-fucose protein O-fucosyltransferase |
Family |
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Sequence |
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Sequence length |
388 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Chronic obstructive pulmonary disease |
Chronic Obstructive Airway Disease |
rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928 |
28166215 |
Dowling-degos disease |
dowling-degos disease, DOWLING-DEGOS DISEASE 2, Dowling-Degos disease 1 |
rs398123038, rs886041033, rs587777293, rs587777294, rs587777295, rs587777296, rs1569152303 |
23684010 |
Reticulate acropigmentation of kitamura |
Reticulate acropigmentation of Kitamura |
rs483352913, rs483352914, rs483352915, rs483352916 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Phrynoderma |
Phrynoderma |
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