• Gene id: 55315

Gene Summary

• Gene Symbol: SLC29A3   Gene   UCSC   Ensembl
• Aliases: ENT3, HCLAP, HJCD, PHID
• Gene name: solute carrier family 29 member 3
• Alternate names: equilibrative nucleoside transporter 3, solute carrier family 29 (equilibrative nucleoside transporter), member 3, solute carrier family 29 (nucleoside transporters), member 3,
• Gene location: 10q22.1 (71319252: 71363389)     Exons: 6     NC_000010.11
• Gene summary(Entrez): This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperp

Protein Summary

• Protein general information: Q9BZD2  
  • Name: Equilibrative nucleoside transporter 3 (hENT3) (Solute carrier family 29 member 3)
  • Length: 475  
  • Mass: 51815
  • Tissue specificity: Widely expressed in both adult and fetal tissues. Highest levels in placenta, uterus, ovary, spleen, lymph node and bone marrow. Lowest levels in brain and heart. {ECO
• Sequence:

  MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQRPEDRFCGTYIIFFSLGIGSLLPWNFFITAK
  EYWMFKLRNSSSPATGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVIT
  ALVKVDTSSWTRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSAVASLVDLAASSD
  VRNSALAFFLTATVFLVLCMGLYLLLSRLEYARYYMRPVLAAHVFSGEEELPQDSLSAPSVASRFIDSHTPPLRP
  ILKKTASLGFCVTYVFFITSLIYPAICTNIESLNKGSGSLWTTKFFIPLTTFLLYNFADLCGRQLTAWIQVPGPN
  SKALPGFVLLRTCLIPLFVLCNYQPRVHLKTVVFQSDVYPALLSSLLGLSNGYLSTLALLYGPKIVPRELAEATG
  VVMSFYVCLGLTLGSACSTLLVHLI

• Structural information:
  • Interpro: IPR030193  IPR002259  
  • STRING: ENSP00000362285
• Other Databases: GeneCards:  SLC29A3  Malacards:  SLC29A3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0016021	integral component of membrane	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005337	nucleoside transmembrane transporter activity	IBA	molecular function
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0015858	nucleoside transport	IEA	biological process
GO:1901642	nucleoside transmembrane transport	IEA	biological process
GO:0005337	nucleoside transmembrane transporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005337	nucleoside transmembrane transporter activity	TAS	molecular function
GO:0005337	nucleoside transmembrane transporter activity	TAS	molecular function
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005337	nucleoside transmembrane transporter activity	IEA	molecular function
GO:0015858	nucleoside transport	IEA	biological process
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05034	Alcoholism

Diseases

Associated diseases	References
H syndrome	KEGG:H00815
H syndrome	KEGG:H00815
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq