GFUS (GDP-L-fucose synthase)

Gene

• Entrez ID: 7264
• Gene name: GDP-L-fucose synthase
• Gene symbol: GFUS
• Synonyms (NCBI Gene): FX, P35B, SDR4E1, TSTA3
• Chromosome: 8
• Chromosome location: 8q24.3
• Summary: Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001913	Process	T cell mediated cytotoxicity	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005829	Component	Cytosol	IDA	8910301
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007159	Process	Leukocyte cell-cell adhesion	NAS	11698403
GO:0009055	Function	Electron transfer activity	TAS	8910301
GO:0009226	Process	Nucleotide-sugar biosynthetic process	IEA
GO:0010595	Process	Positive regulation of endothelial cell migration	IMP	18205178
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0019673	Process	GDP-mannose metabolic process	IDA	9525924
GO:0042351	Process	'de novo' GDP-L-fucose biosynthetic process	IDA	9525924
GO:0042351	Process	'de novo' GDP-L-fucose biosynthetic process	IEA
GO:0042351	Process	'de novo' GDP-L-fucose biosynthetic process	TAS	11698403
GO:0042356	Function	GDP-4-dehydro-D-rhamnose reductase activity	TAS	11698403
GO:0042802	Function	Identical protein binding	IPI	23774504, 32296183
GO:0047918	Function	GDP-mannose 3,5-epimerase activity	IDA	8910301
GO:0050577	Function	GDP-L-fucose synthase activity	IBA
GO:0050577	Function	GDP-L-fucose synthase activity	IDA	8910301, 9525924
GO:0050577	Function	GDP-L-fucose synthase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1904906	Process	Positive regulation of endothelial cell-matrix adhesion via fibronectin	IMP	18205178

Other IDs

• MIM: 137020
• HGNC: 12390
• e!Ensembl: ENSG00000104522

Protein

• UniProt ID: Q13630
• Protein name: GDP-L-fucose synthase (EC 1.1.1.271) (GDP-4-keto-6-deoxy-D-mannose-3,5-epimerase-4-reductase) (Protein FX) (Red cell NADP(H)-binding protein) (Short-chain dehydrogenase/reductase family 4E member 1)
• Protein function: Catalyzes the two-step NADP-dependent conversion of GDP-4-dehydro-6-deoxy-D-mannose to GDP-fucose, involving an epimerase and a reductase reaction.
• PDB: 4B8W, 4B8Z, 4BKP, 4BL5, 4E5Y
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01370	Epimerase	10 → 245	NAD dependent epimerase/dehydratase family	Family

• Sequence:

  MGEPQGSMRILVTGGSGLVGKAIQKVVADGAGLPGEDWVFVSSKDADLTDTAQTRALFEK
  VQPTHVIHLAAMVGGLFRNIKYNLDFWRKNVHMNDNVLHSAFEVGARKVVSCLSTCIFPD
  KTTYPIDETMIHNGPPHNSNFGYSYAKRMIDVQNRAYFQQYGCTFTAVIPTNVFGPHDNF
  NIEDGHVLPGLIHKVHLAKSSGSALTVWGTGNPRRQFIYSLDLAQLFIWVLREYNEVEPI
  ILSVGEEDEVSIKEAAEAVVEAMDFHGEVTFDTTKSDGQFKKTASNSKLRTYLPDFRFTP
  FKQAVKETCAWFTDNYEQARK

• Sequence length: 321

Pathways

KEGG:

Fructose and mannose metabolism
Biosynthesis of various nucleotide sugars
Metabolic pathways
Biosynthesis of nucleotide sugars

Reactome:

GDP-fucose biosynthesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CONGENITAL DISORDER OF GLYCOSYLATION	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEGMATOGENOUS RETINAL DETACHMENT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	26531722		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26531722, 35184647	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26531722	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21742797		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35184647	Stimulate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	29950151	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	29950151	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	22759382	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34165034	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31249452		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	21742797	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29950151	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26531722		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21742797		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	34165034	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30305453		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	30305453, 34535569	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26531722, 31249452		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29950151		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36583336	Associate	★☆☆☆☆ Found in Text Mining only