• Gene id: 7264

Gene Summary

• Gene Symbol: GFUS   Gene   UCSC   Ensembl
• Aliases: FX, P35B, SDR4E1, TSTA3
• Gene name: GDP-L-fucose synthase
• Alternate names: GDP-L-fucose synthase, 3-5 epimerase/4-reductase, GDP-4-keto-6-deoxy-D-mannose epimerase-reductase, GDP-4-keto-6-deoxy-D-mannose-3,5-epimerase-4-reductase, red cell NADP(H)-binding protein, short chain dehydrogenase/reductase family 4E, member 1, testis tissue ,
• Gene location: 8q24.3 (143618042: 143612617)     Exons: 13     NC_000008.11
• Gene summary(Entrez): 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
• OMIM: 180610

Protein Summary

• Protein general information: Q13630  
  • 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)
  • Length: 321  
  • Mass: 35893
• Sequence:

  MGEPQGSMRILVTGGSGLVGKAIQKVVADGAGLPGEDWVFVSSKDADLTDTAQTRALFEKVQPTHVIHLAAMVGG
  LFRNIKYNLDFWRKNVHMNDNVLHSAFEVGARKVVSCLSTCIFPDKTTYPIDETMIHNGPPHNSNFGYSYAKRMI
  DVQNRAYFQQYGCTFTAVIPTNVFGPHDNFNIEDGHVLPGLIHKVHLAKSSGSALTVWGTGNPRRQFIYSLDLAQ
  LFIWVLREYNEVEPIILSVGEEDEVSIKEAAEAVVEAMDFHGEVTFDTTKSDGQFKKTASNSKLRTYLPDFRFTP
  FKQAVKETCAWFTDNYEQARK

• Structural information:
  • Interpro: IPR001509  IPR028614  IPR036291  
  • CDD: cd05239
  • PDB: 4B8W 4B8Z 4BKP 4BL5 4E5Y
  • PDBsum: 4B8W 4B8Z 4BKP 4BL5 4E5Y
  • STRING: ENSP00000398803
• Other Databases: GeneCards:  GFUS  Malacards:  GFUS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050577	GDP-L-fucose synthase activity	IBA	molecular function
GO:0010595	positive regulation of endothelial cell migration	IMP	biological process
GO:1904906	positive regulation of endothelial cell-matrix adhesion via fibronectin	IMP	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0009226	nucleotide-sugar biosynthetic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0016853	isomerase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0050577	GDP-L-fucose synthase activity	IEA	molecular function
GO:0050577	GDP-L-fucose synthase activity	IDA	molecular function
GO:0047918	GDP-mannose 3,5-epimerase activity	IDA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001913	T cell mediated cytotoxicity	IEA	biological process
GO:0022900	electron transport chain	IEA	biological process
GO:0042351	'de novo' GDP-L-fucose biosynthetic process	IEA	biological process
GO:0050577	GDP-L-fucose synthase activity	IDA	molecular function
GO:0042351	'de novo' GDP-L-fucose biosynthetic process	IDA	biological process
GO:0019673	GDP-mannose metabolic process	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0009055	electron transfer activity	TAS	molecular function
GO:0042356	GDP-4-dehydro-D-rhamnose reductase activity	TAS	molecular function
GO:0042351	'de novo' GDP-L-fucose biosynthetic process	TAS	biological process
GO:0007159	leukocyte cell-cell adhesion	NAS	biological process
GO:0050577	GDP-L-fucose synthase activity	IBA	molecular function
GO:0010595	positive regulation of endothelial cell migration	IMP	biological process
GO:1904906	positive regulation of endothelial cell-matrix adhesion via fibronectin	IMP	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0009226	nucleotide-sugar biosynthetic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0016853	isomerase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0050577	GDP-L-fucose synthase activity	IEA	molecular function
GO:0050577	GDP-L-fucose synthase activity	IDA	molecular function
GO:0047918	GDP-mannose 3,5-epimerase activity	IDA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001913	T cell mediated cytotoxicity	IEA	biological process
GO:0022900	electron transport chain	IEA	biological process
GO:0042351	'de novo' GDP-L-fucose biosynthetic process	IEA	biological process
GO:0050577	GDP-L-fucose synthase activity	IDA	molecular function
GO:0042351	'de novo' GDP-L-fucose biosynthetic process	IDA	biological process
GO:0019673	GDP-mannose metabolic process	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0009055	electron transfer activity	TAS	molecular function
GO:0042356	GDP-4-dehydro-D-rhamnose reductase activity	TAS	molecular function
GO:0042351	'de novo' GDP-L-fucose biosynthetic process	TAS	biological process
GO:0007159	leukocyte cell-cell adhesion	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00520	Amino sugar and nucleotide sugar metabolism
hsa00051	Fructose and mannose metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq