• Gene id: 2030

Gene Summary

• Gene Symbol: SLC29A1   Gene   UCSC   Ensembl
• Aliases: ENT1
• Gene name: solute carrier family 29 member 1 (Augustine blood group)
• Alternate names: equilibrative nucleoside transporter 1, equilibrative nitrobenzylmercaptopurine riboside (NBMPR)-sensitive nucleoside transporter, nucleoside transporter, es-type, solute carrier family 29 (equilibrative nucleoside transporter), member 1, solute carrier famil,
• Gene location: 6p21.1 (44219586: 44234143)     Exons: 17     NC_000006.12
• Gene summary(Entrez): This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. T

Protein Summary

• Protein general information: Q99808  
  • Name: Equilibrative nucleoside transporter 1 (Equilibrative nitrobenzylmercaptopurine riboside sensitive nucleoside transporter) (Equilibrative NBMPR sensitive nucleoside transporter) (Nucleoside transporter, es type) (Solute carrier family 29 member 1)
  • Length: 456  
  • Mass: 50219
  • Tissue specificity: Detected in erythrocytes (at protein level). Expressed in heart, brain, mammary gland, erythrocytes and placenta, and also in fetal liver and spleen. {ECO
• Sequence:

  MTTSHQPQDRYKAVWLIFFMLGLGTLLPWNFFMTATQYFTNRLDMSQNVSLVTAELSKDAQASAAPAAPLPERNS
  LSAIFNNVMTLCAMLPLLLFTYLNSFLHQRIPQSVRILGSLVAILLVFLITAILVKVQLDALPFFVITMIKIVLI
  NSFGAILQGSLFGLAGLLPASYTAPIMSGQGLAGFFASVAMICAIASGSELSESAFGYFITACAVIILTIICYLG
  LPRLEFYRYYQQLKLEGPGEQETKLDLISKGEEPRAGKEESGVSVSNSQPTNESHSIKAILKNISVLAFSVCFIF
  TITIGMFPAVTVEVKSSIAGSSTWERYFIPVSCFLTFNIFDWLGRSLTAVFMWPGKDSRWLPSLVLARLVFVPLL
  LLCNIKPRRYLTVVFEHDAWFIFFMAAFAFSNGYLASLCMCFGPKKVKPAEAETAGAIMAFFLCLGLALGAVFSF
  LFRAIV

• Structural information:
  • Interpro: IPR030195  IPR034764  IPR002259  IPR036259  
  • PDB: 6OB6 6OB7
  • PDBsum: 6OB6 6OB7
  • STRING: ENSP00000377424
• Other Databases: GeneCards:  SLC29A1  Malacards:  SLC29A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006836	neurotransmitter transport	IDA	biological process
GO:0005326	neurotransmitter transmembrane transporter activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0015211	purine nucleoside transmembrane transporter activity	IDA	molecular function
GO:0015213	uridine transmembrane transporter activity	IDA	molecular function
GO:0005326	neurotransmitter transmembrane transporter activity	ISS	molecular function
GO:0015860	purine nucleoside transmembrane transport	IDA	biological process
GO:0032238	adenosine transport	IDA	biological process
GO:0015211	purine nucleoside transmembrane transporter activity	ISS	molecular function
GO:1901642	nucleoside transmembrane transport	IMP	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0015860	purine nucleoside transmembrane transport	ISS	biological process
GO:0015862	uridine transport	IMP	biological process
GO:0072531	pyrimidine-containing compound transmembrane transport	IMP	biological process
GO:0032238	adenosine transport	ISS	biological process
GO:0001504	neurotransmitter uptake	ISS	biological process
GO:0015862	uridine transport	IBA	biological process
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:0016323	basolateral plasma membrane	IDA	cellular component
GO:0015858	nucleoside transport	IDA	biological process
GO:0016324	apical plasma membrane	IDA	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:0005887	integral component of plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005337	nucleoside transmembrane transporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006139	nucleobase-containing compound metabolic process	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0015858	nucleoside transport	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005337	nucleoside transmembrane transporter activity	IEA	molecular function
GO:0098793	presynapse	IEA	cellular component
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0030431	sleep	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005337	nucleoside transmembrane transporter activity	IEA	molecular function
GO:0015858	nucleoside transport	IEA	biological process
GO:0098794	postsynapse	IEA	cellular component
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0015862	uridine transport	IEA	biological process
GO:0015858	nucleoside transport	IEA	biological process
GO:0007595	lactation	IEA	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0098810	neurotransmitter reuptake	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05034	Alcoholism

Diseases

Associated diseases	References
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