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

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

中文名称:溶质载体家族 29 成员 1 (奥古斯丁血型)

种属: Homo sapiens

同用名: ENT1

基因 ID: 2030 | 基因类型: protein coding

关于 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.

功能概要

该基因是平衡核苷转运蛋白家族的成员。该基因编码一种跨膜糖蛋白,定位于质膜和线粒体膜,并介导细胞从周围介质中摄取核苷。该蛋白质被归类为对硝基苄基硫肌苷 (NBMPR) 的抑制敏感的平衡 (相对于浓缩) 转运蛋白。核苷转运体是缺乏从头核苷合成途径的细胞中核苷酸合成所必需的,也是摄取用于癌症和病毒化学疗法的细胞毒性核苷所必需的。已发现该基因的多个选择性剪接变体,编码相同的蛋白质。[RefSeq 提供,2008 年 7 月]

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 基因产物(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

SLC29A1 蛋白结构

Nucleoside_tran

Nucleoside_tran: Nucleoside transporter (144 - 454)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 456 a.a.
蛋白主名 其他名称

equilibrative nucleoside transporter 1

equilibrative nitrobenzylmercaptopurine riboside (NBMPR)-sensitive nucleoside transporter

关联疾病

疾病名称 别名
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
疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Bos taurus SLC29A1 VGNC VGNC:54237
Rattus norvegicus SLC29A1 RGD RGD:61899
Mus musculus SLC29A1 MGD MGI:1927073
Others SLC29A1 NCBI