• Gene id: 55343

Gene Summary

• Gene Symbol: SLC35C1   Gene   UCSC   Ensembl
• Aliases: CDG2C, FUCT1
• Gene name: solute carrier family 35 member C1
• Alternate names: GDP-fucose transporter 1, solute carrier family 35 (GDP-fucose transporter), member C1,
• Gene location: 11p11.2 (45804071: 45813015)     Exons: 5     NC_000011.10
• Gene summary(Entrez): This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provi
• OMIM: 173850

Protein Summary

• Protein general information: Q96A29  
  • Name: GDP fucose transporter 1 (Solute carrier family 35 member C1)
  • Length: 364  
  • Mass: 39809
• Sequence:

  MNRAPLKRSRILHMALTGASDPSAEAEANGEKPFLLRALQIALVVSLYWVTSISMVFLNKYLLDSPSLRLDTPIF
  VTFYQCLVTTLLCKGLSALAACCPGAVDFPSLRLDLRVARSVLPLSVVFIGMITFNNLCLKYVGVAFYNVGRSLT
  TVFNVLLSYLLLKQTTSFYALLTCGIIIGGFWLGVDQEGAEGTLSWLGTVFGVLASLCVSLNAIYTTKVLPAVDG
  SIWRLTFYNNVNACILFLPLLLLLGELQALRDFAQLGSAHFWGMMTLGGLFGFAIGYVTGLQIKFTSPLTHNVSG
  TAKACAQTVLAVLYYEETKSFLWWTSNMMVLGGSSAYTWVRGWEMKKTPEEPSPKDSEKSAMGV

• Structural information:
  • Interpro: IPR029666  IPR004853  
  • STRING: ENSP00000313318
• Other Databases: GeneCards:  SLC35C1  Malacards:  SLC35C1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036066	protein O-linked fucosylation	IBA	biological process
GO:0005457	GDP-fucose transmembrane transporter activity	IBA	molecular function
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0015297	antiporter activity	IBA	molecular function
GO:0022857	transmembrane transporter activity	IBA	molecular function
GO:0036085	GDP-fucose import into Golgi lumen	IBA	biological process
GO:0005457	GDP-fucose transmembrane transporter activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0036085	GDP-fucose import into Golgi lumen	IEA	biological process
GO:0005794	Golgi apparatus	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:0000139	Golgi membrane	TAS	cellular component
GO:0005457	GDP-fucose transmembrane transporter activity	TAS	molecular function
GO:0045746	negative regulation of Notch signaling pathway	IEA	biological process
GO:0030259	lipid glycosylation	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component

Diseases

Associated diseases	References
Congenital disorders of glycosylation type II	KEGG:H00119
Leukocyte adhesion deficiency	KEGG:H00099
Congenital disorders of glycosylation type II	KEGG:H00119
Leukocyte adhesion deficiency	KEGG:H00099
Congenital disorder of glycosylation type IIc	PMID:11326280
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R