• Gene id: 91869

Gene Summary

• Gene Symbol: RFT1   Gene   UCSC   Ensembl
• Aliases: CDG1N
• Gene name: RFT1 homolog
• Alternate names: protein RFT1 homolog, RFT1, requiring fifty three 1 homolog, congenital disorder of glycosylation 1N, putative endoplasmic reticulum multispan transmembrane protein,
• Gene location: 3p21.1 (53130468: 53071150)     Exons: 18     NC_000003.12
• Gene summary(Entrez): This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this
• OMIM: 605538

Protein Summary

• Protein general information: Q96AA3  
  • Name: Protein RFT1 homolog
  • Length: 541  
  • Mass: 60335
• Sequence:

  MGSQEVLGHAARLASSGLLLQVLFRLITFVLNAFILRFLSKEIVGVVNVRLTLLYSTTLFLAREAFRRACLSGGT
  QRDWSQTLNLLWLTVPLGVFWSLFLGWIWLQLLEVPDPNVVPHYATGVVLFGLSAVVELLGEPFWVLAQAHMFVK
  LKVIAESLSVILKSVLTAFLVLWLPHWGLYIFSLAQLFYTTVLVLCYVIYFTKLLGSPESTKLQTLPVSRITDLL
  PNITRNGAFINWKEAKLTWSFFKQSFLKQILTEGERYVMTFLNVLNFGDQGVYDIVNNLGSLVARLIFQPIEESF
  YIFFAKVLERGKDATLQKQEDVAVAAAVLESLLKLALLAGLTITVFGFAYSQLALDIYGGTMLSSGSGPVLLRSY
  CLYVLLLAINGVTECFTFAAMSKEEVDRYNFVMLALSSSFLVLSYLLTRWCGSVGFILANCFNMGIRITQSLCFI
  HRYYRRSPHRPLAGLHLSPVLLGTFALSGGVTAVSEVFLCCEQGWPARLAHIAVGAFCLGATLGTAFLTETKLIH
  FLRTQLGVPRRTDKMT

• Structural information:
  • Interpro: IPR007594  
  • STRING: ENSP00000296292
• Other Databases: GeneCards:  RFT1  Malacards:  RFT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0034203	glycolipid translocation	IBA	biological process
GO:0005319	lipid transporter activity	IEA	molecular function
GO:0006869	lipid transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008643	carbohydrate transport	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Congenital disorders of glycosylation type I	KEGG:H00118
Congenital disorders of glycosylation type I	KEGG:H00118
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881