• Gene id: 23443

Gene Summary

• Gene Symbol: SLC35A3   Gene   UCSC   Ensembl
• Aliases: AMRS
• Gene name: solute carrier family 35 member A3
• Alternate names: UDP-N-acetylglucosamine transporter, golgi UDP-GlcNAc transporter, solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3, solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3,
• Gene location: 1p21.2 (99968400: 100035633)     Exons: 10     NC_000001.11
• Gene summary(Entrez): This gene encodes a UDP-N-acetylglucosamine transporter found in the golgi apparatus membrane. In cattle, a missense mutation in this gene causes complex vertebral malformation. Alternative splicing results in multiple transcript variants. [provided by Re
• OMIM: 605632

Protein Summary

• Protein general information: Q9Y2D2  
  • Name: UDP N acetylglucosamine transporter (Golgi UDP GlcNAc transporter) (Solute carrier family 35 member A3)
  • Length: 325  
  • Mass: 35985
• Sequence:

  MFANLKYVSLGILVFQTTSLVLTMRYSRTLKEEGPRYLSSTAVVVAELLKIMACILLVYKDSKCSLRALNRVLHD
  EILNKPMETLKLAIPSGIYTLQNNLLYVALSNLDAATYQVTYQLKILTTALFSVSMLSKKLGVYQWLSLVILMTG
  VAFVQWPSDSQLDSKELSAGSQFVGLMAVLTACFSSGFAGVYFEKILKETKQSVWIRNIQLGFFGSIFGLMGVYI
  YDGELVSKNGFFQGYNRLTWIVVVLQALGGLVIAAVIKYADNILKGFATSLSIILSTLISYFWLQDFVPTSVFFL
  GAILVITATFLYGYDPKPAGNPTKA

• Structural information:
  • Interpro: IPR007271  
  • STRING: ENSP00000359172
• Other Databases: GeneCards:  SLC35A3  Malacards:  SLC35A3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030173	integral component of Golgi membrane	IBA	cellular component
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005459	UDP-galactose transmembrane transporter activity	IBA	molecular function
GO:1990569	UDP-N-acetylglucosamine transmembrane transport	IMP	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0015165	pyrimidine nucleotide-sugar transmembrane transporter activity	IEA	molecular function
GO:0090481	pyrimidine nucleotide-sugar transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0008643	carbohydrate transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005462	UDP-N-acetylglucosamine transmembrane transporter activity	TAS	molecular function
GO:0006047	UDP-N-acetylglucosamine metabolic process	TAS	biological process
GO:0005794	Golgi apparatus	TAS	cellular component
GO:1990569	UDP-N-acetylglucosamine transmembrane transport	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005462	UDP-N-acetylglucosamine transmembrane transporter activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0072334	UDP-galactose transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Arthrogryposis, mental retardation, and seizures	KEGG:H01392
Arthrogryposis, mental retardation, and seizures	KEGG:H01392
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray