SLC29A1 - solute carrier family 29 member 1 (Augustine blood group) Gene

Also Known as ENT1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2030

About SLC29A1

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:44,219,615-44,234,142 (from NCBI)

This gene has 24 transcripts (splice variants), 290 orthologues and 3 paralogues. Ubiquitous expression in adrenal (RPKM 38.0), fat (RPKM 34.4) and 25 other tissues.

Summary

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. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by nitrobenzylthioinosine (NBMPR). Nucleoside Transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and are also necessary for the uptake of cytotoxic nucleosides used for Cancer and viral chemotherapies. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

SLC29A1 Products (6)

mRNA Protein Name
NM_001078175.3 NP_001071643.1 equilibrative nucleoside transporter 1 isoform 1
NM_001078177.2 NP_001071645.1 equilibrative nucleoside transporter 1 isoform 1
NM_001304462.2 NP_001291391.1 equilibrative nucleoside transporter 1 isoform 5
NM_001304465.2 NP_001291394.1 equilibrative nucleoside transporter 1 isoform 3
NM_001304466.2 NP_001291395.1 equilibrative nucleoside transporter 1 isoform 4
NM_001372327.1 NP_001359256.1 equilibrative nucleoside transporter 1 isoform 1
Molecular Function GO Annotation Evidence References Source
enables adenine transmembrane transporter activity IDA
IDA: Inferred from direct assay
21795683 GOA
enables cytidine transmembrane transporter activity IDA
IDA: Inferred from direct assay
10722669 GOA
enables guanine transmembrane transporter activity IDA
IDA: Inferred from direct assay
21795683 GOA
enables neurotransmitter transmembrane transporter activity IDA
IDA: Inferred from direct assay
9396714 GOA
enables nucleoside transmembrane transporter activity IDA
IDA: Inferred from direct assay
10722669 GOA
enables purine nucleoside transmembrane transporter activity IDA
IDA: Inferred from direct assay
9396714 GOA
enables pyrimidine- and adenosine-specific:sodium symporter activity IDA
IDA: Inferred from direct assay
21795683 GOA
enables uracil transmembrane transporter activity IDA
IDA: Inferred from direct assay
21795683 GOA
enables uridine transmembrane transporter activity IDA
IDA: Inferred from direct assay
8986748 GOA
Biological Process GO Annotation Evidence References Source
involved in adenine transport IDA
IDA: Inferred from direct assay
21795683 GOA
involved in adenosine transport IDA
IDA: Inferred from direct assay
8986748 GOA
involved in cytidine transport IDA
IDA: Inferred from direct assay
10722669 GOA
involved in guanine transmembrane transport IDA
IDA: Inferred from direct assay
21795683 GOA
involved in hypoxanthine transport IDA
IDA: Inferred from direct assay
21795683 GOA
involved in inosine transport IDA
IDA: Inferred from direct assay
10722669 GOA
involved in neurotransmitter transport IDA
IDA: Inferred from direct assay
9396714 GOA
involved in nucleobase transport IDA
IDA: Inferred from direct assay
21795683 GOA
involved in nucleoside transmembrane transport IDA
IDA: Inferred from direct assay
8986748 GOA
involved in nucleoside transmembrane transport IMP
IMP: Inferred from mutant phenotype
9396714 GOA
involved in nucleoside transport IDA
IDA: Inferred from direct assay
8986748 GOA
involved in purine nucleobase transmembrane transport IDA
IDA: Inferred from direct assay
21795683 GOA
involved in purine nucleoside transmembrane transport IDA
IDA: Inferred from direct assay
9396714 GOA
involved in pyrimidine nucleobase transmembrane transport IDA
IDA: Inferred from direct assay
21795683 GOA
involved in pyrimidine-containing compound transmembrane transport IMP
IMP: Inferred from mutant phenotype
9396714 GOA
involved in thymine transport IDA
IDA: Inferred from direct assay
21795683 GOA
involved in uracil transmembrane transport IDA
IDA: Inferred from direct assay
21795683 GOA
involved in uridine transmembrane transport IDA
IDA: Inferred from direct assay
8986748 GOA
involved in uridine transmembrane transport IMP
IMP: Inferred from mutant phenotype
9396714 GOA
Cellular Component GO Annotation Evidence References Source
located in apical plasma membrane IDA
IDA: Inferred from direct assay
12527552 GOA
located in basolateral plasma membrane IDA
IDA: Inferred from direct assay
12527552 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
23137377 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC29A1 Protein Structure

Nucleoside_tran

Nucleoside_tran: Nucleoside transporter (144 - 454)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 456 a.a.
Protein Preferred Names Protein Names

equilibrative nucleoside transporter 1

  • equilibrative nitrobenzylmercaptopurine riboside (NBMPR)-sensitive nucleoside transporter

SLC29A1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P810738 ENT1 Antibody (YA9981) WB, IHC-P Human
HY-P81506 ENT1 Antibody (YA1251) IHC-P Human

Related Diseases

Diseases Alias
Fetal Erythroblastosis
  • Erythroblastosis, Fetal

  • Ef - Erythroblastosis Foetalis

  • Erythroblastosis Fetalis

  • Haemolytic Disease Due To Rhesus Isoimmunisation

  • Rhesus Isoimmunisation Of The Newborn

Gestational Diabetes
  • Gestational Diabetes Mellitus

  • GDM

  • Diabetes Mellitus Arising In Pregnancy

  • Maternal Gestational Diabetes Mellitus

  • Diabetes Mellitus, Gestational

  • Diabetes Mellitus, Pregnancy Related

  • Diabetes, Pregnancy-Induced

  • Diabetes Gestational

  • Diabetes, Gestational

  • Diabetes Of Pregnancy

  • Gdm - [Gestational Diabetes Mellitus]

  • Gestational Diabetes Mellitus Nos

  • Gestational Diabetes Complicating Pregnancy, Childbirth, Or The Puerperium

Diffuse Idiopathic Skeletal Hyperostosis
  • Hyperostosis, Diffuse Idiopathic Skeletal

  • Ankylosing Vertebral Hyperostosis

  • Dish

  • Disseminated Idiopathic Skeletal Hyperostosis

  • Forestier Disease

  • Forestier'S Disease

  • Hyperostosis Diffuse Idiopathic Skeletal

Vulvar Leiomyosarcoma
Pancreatic Cancer
  • Pancreatic Carcinoma

  • Carcinoma Of Pancreas

  • Familial Pancreatic Carcinoma

  • Pancreatic Neoplasm

  • Pancreatic Carcinoma, Familial

  • Malignant Neoplasm Of Pancreas

  • Pancreatic Acinar Carcinoma

  • Pancreatic Tumor

  • Familial Pancreatic Cancer

  • Neoplasm Of The Pancreas

  • Cancer Of The Pancreas

  • Pancreatic Carcinoma, Somatic

  • Pancreatic Cancer, Somatic

  • Ca Body Of Pancreas

  • Ca Head Of Pancreas

  • Ca Tail Of Pancreas

  • Malignant Neoplasm Of Body Of Pancreas

  • Malignant Neoplasm Of Head Of Pancreas

  • Malignant Neoplasm Of Tail Of Pancreas

  • Pancreas Neoplasm

  • Exocrine Cancer

  • Exocrine Pancreas Carcinoma

  • Hereditary Pancreatic Cancer

  • Hereditary Pancreatic Carcinoma

  • PNCA

  • Pancreatic Cancer, Susceptibility To

  • Carcinoma Of Head Of Pancreas

  • Pancreatic Neoplasms

  • Pancreatic Tumors

  • Cancer, Pancreatic

  • Cancer Of Pancreas

  • Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Lung Pleomorphic Carcinoma
Splenic Tuberculosis
  • Tuberculosis, Splenic

Vulvar Leiomyoma
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus SLC29A1 VGNC VGNC:54237
Rattus norvegicus SLC29A1 RGD RGD:61899
Mus musculus SLC29A1 MGD MGI:1927073
Others SLC29A1 NCBI