• Gene id: 23509

Gene Summary

• Gene Symbol: POFUT1   Gene   UCSC   Ensembl
• Aliases: DDD2, FUT12, O-FUT, O-Fuc-T, O-FucT-1, OFUCT1
• Gene name: protein O-fucosyltransferase 1
• Alternate names: GDP-fucose protein O-fucosyltransferase 1, o-fucosyltransferase protein, peptide-O-fucosyltransferase 1,
• Gene location: 20q11.21 (32207879: 32238657)     Exons: 9     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 602570

Protein Summary

• Protein general information: Q9H488  
  • Name: GDP fucose protein O fucosyltransferase 1 (EC 2.4.1.221) (Peptide O fucosyltransferase 1) (O FucT 1)
  • Length: 388  
  • Mass: 43956
  • Tissue specificity: Highly expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO
• Sequence:

  MGAAAWARPLSVSFLLLLLPLPGMPAGSWDPAGYLLYCPCMGRFGNQADHFLGSLAFAKLLNRTLAVPPWIEYQH
  HKPPFTNLHVSYQKYFKLEPLQAYHRVISLEDFMEKLAPTHWPPEKRVAYCFEVAAQRSPDKKTCPMKEGNPFGP
  FWDQFHVSFNKSELFTGISFSASYREQWSQRFSPKEHPVLALPGAPAQFPVLEEHRPLQKYMVWSDEMVKTGEAQ
  IHAHLVRPYVGIHLRIGSDWKNACAMLKDGTAGSHFMASPQCVGYSRSTAAPLTMTMCLPDLKEIQRAVKLWVRS
  LDAQSVYVATDSESYVPELQQLFKGKVKVVSLKPEVAQVDLYILGQADHFIGNCVSSFTAFVKRERDLQGRPSSF
  FGMDRPPKLRDEF

• Structural information:
  • Interpro: IPR019378  IPR039922  
  • PDB: 5UX6 5UXH
  • PDBsum: 5UX6 5UXH
  • STRING: ENSP00000364902
• Other Databases: GeneCards:  POFUT1  Malacards:  POFUT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008593	regulation of Notch signaling pathway	IMP	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0008417	fucosyltransferase activity	IEA	molecular function
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0006004	fucose metabolic process	IEA	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0046922	peptide-O-fucosyltransferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0008417	fucosyltransferase activity	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0006493	protein O-linked glycosylation	IDA	biological process
GO:0008417	fucosyltransferase activity	IDA	molecular function
GO:0046922	peptide-O-fucosyltransferase activity	IDA	molecular function
GO:0036066	protein O-linked fucosylation	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0006493	protein O-linked glycosylation	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0016266	O-glycan processing	TAS	biological process
GO:0016020	membrane	HDA	cellular component
GO:0046922	peptide-O-fucosyltransferase activity	TAS	molecular function
GO:0007219	Notch signaling pathway	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa00514	Other types of O-glycan biosynthesis

Diseases

Associated diseases	References
Dowling-Degos disease	KEGG:H00944
Dowling-Degos disease	KEGG:H00944
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