• Gene id: 23169

Gene Summary

• Gene Symbol: SLC35D1   Gene   UCSC   Ensembl
• Aliases: SHNKND, UGTREL7
• Gene name: solute carrier family 35 member D1
• Alternate names: UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter, UDP-GlcA/UDP-GalNAc transporter, UDP-galactose transporter-related 7, UDP-galactose transporter-related protein 7, solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1, solute carrier ,
• Gene location: 1p31.3 (67054422: 66999349)     Exons: 15     NC_000001.11
• Gene summary(Entrez): Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this
• OMIM: 610804

Protein Summary

• Protein general information: Q9NTN3  
  • Name: UDP glucuronic acid/UDP N acetylgalactosamine transporter (UDP GlcA/UDP GalNAc transporter) (Solute carrier family 35 member D1) (UDP galactose transporter related protein 7) (UGTrel7)
  • Length: 355  
  • Mass: 39240
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MAEVHRRQHARVKGEAPAKSSTLRDEEELGMASAETLTVFLKLLAAGFYGVSSFLIVVVNKSVLTNYRFPSSLCV
  GLGQMVATVAVLWVGKALRVVKFPDLDRNVPRKTFPLPLLYFGNQITGLFSTKKLNLPMFTVLRRFSILFTMFAE
  GVLLKKTFSWGIKMTVFAMIIGAFVAASSDLAFDLEGYAFILINDVLTAANGAYVKQKLDSKELGKYGLLYYNAL
  FMILPTLAIAYFTGDAQKAVEFEGWADTLFLLQFTLSCVMGFILMYATVLCTQYNSALTTTIVGCIKNILITYIG
  MVFGGDYIFTWTNFIGLNISIAGSLVYSYITFTEEQLSKQSEANNKLDIKGKGAV

• Structural information:
  • Interpro: IPR004853  
  • STRING: ENSP00000235345
• Other Databases: GeneCards:  SLC35D1  Malacards:  SLC35D1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005461	UDP-glucuronic acid transmembrane transporter activity	IBA	molecular function
GO:0005462	UDP-N-acetylglucosamine transmembrane transporter activity	IBA	molecular function
GO:0005463	UDP-N-acetylgalactosamine transmembrane transporter activity	IBA	molecular function
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0015165	pyrimidine nucleotide-sugar transmembrane transporter activity	IBA	molecular function
GO:0015297	antiporter activity	IBA	molecular function
GO:0022857	transmembrane transporter activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008643	carbohydrate transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006065	UDP-glucuronate biosynthetic process	TAS	biological process
GO:0090481	pyrimidine nucleotide-sugar transmembrane transport	IEA	biological process
GO:0048706	embryonic skeletal system development	IEA	biological process
GO:0015165	pyrimidine nucleotide-sugar transmembrane transporter activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0030206	chondroitin sulfate biosynthetic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:1990569	UDP-N-acetylglucosamine transmembrane transport	IEA	biological process
GO:0015789	UDP-N-acetylgalactosamine transmembrane transport	IEA	biological process
GO:0015787	UDP-glucuronic acid transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Schneckenbecken dysplasia	KEGG:H00474
Schneckenbecken dysplasia	KEGG:H00474
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

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