1. Gene
  2. SLC23A1 - solute carrier family 23 member 1 Gene

SLC23A1 - solute carrier family 23 member 1 Gene

中文名称:溶质载体家族 23 成员 1

种属: Homo sapiens

同用名: SVCT1; YSPL3; SLC23A2

基因 ID: 9963 | 基因类型: protein coding

关于 SLC23A1

Cytogenetic location: 5q31.2 Genomic coordinates (GRCh38): 5:139,367,196-139,385,676 (from NCBI)

This gene has 7 transcripts (splice variants), 200 orthologues and 2 paralogues. Biased expression in small intestine (RPKM 24.6), kidney (RPKM 21.3) and 4 other tissues.

功能概要

维生素 C 被人体吸收并分布到器官需要两种钠依赖性维生素 C 转运蛋白。该基因编码两种转运蛋白之一。编码的蛋白质在涉及上皮表面的散装维生素 C 运输中具有活性。此前,该基因的官方符号为 SLC23A2。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2008 年 12 月]

The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two transporters. The encoded protein is active in bulk vitamin C transport involving epithelial surfaces. Previously, this gene had an official symbol of SLC23A2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

SLC23A1 基因产物(2)

mRNA Protein Name
NM_005847.5 NP_005838.3 solute carrier family 23 member 1 isoform a
NM_152685.4 NP_689898.2 solute carrier family 23 member 1 isoform b
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
NOT enables L-ascorbate:sodium symporter activity IDA
IDA: 通过直接分析推断
10556483 GOA
enables L-ascorbate:sodium symporter activity IDA
IDA: 通过直接分析推断
10556483 GOA
enables L-ascorbic acid transmembrane transporter activity IDA
IDA: 通过直接分析推断
10631088 GOA
enables dehydroascorbic acid transmembrane transporter activity IMP
IMP: 通过突变表型推断
18247577 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17474147 GOA
enables sodium ion transmembrane transporter activity IDA
IDA: 通过直接分析推断
18094143 GOA
enables urate transmembrane transporter activity IDA
IDA: 通过直接分析推断
36749388 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
NOT involved in L-ascorbic acid transmembrane transport IDA
IDA: 通过直接分析推断
10556483 GOA
involved in L-ascorbic acid transmembrane transport IDA
IDA: 通过直接分析推断
10556483 GOA
involved in dehydroascorbic acid transport IMP
IMP: 通过突变表型推断
18247577 GOA
involved in response to toxic substance IDA
IDA: 通过直接分析推断
17575980 GOA
involved in sodium ion transport IDA
IDA: 通过直接分析推断
18094143 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in apical plasma membrane IDA
IDA: 通过直接分析推断
15993839 GOA
located in intracellular organelle IDA
IDA: 通过直接分析推断
15993839 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
10631088 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

solute carrier family 23 member 1

Na(+)/L-ascorbic acid transporter 1

SLC23A1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra SLC23A1 Q9UHI7 KRTAP10-8 Homo sapiens P60410
Y2H Array
25416956
Intra SLC23A1 Q9UHI7 KRTAP10-9 Homo sapiens P60411
Y2H Prey Pooling
25416956
Intra SLC23A1 Q9UHI7 KRTAP10-9 Homo sapiens P60411
Validated Y2H
25416956
Intra SLC23A1 Q9UHI7 KRTAP10-5 Homo sapiens P60370
Y2H Prey Pooling
25416956
Intra SLC23A1 Q9UHI7 KRTAP10-7 Homo sapiens P60409
Validated Y2H
25416956
Intra SLC23A1 Q9UHI7 KRTAP4-2 Homo sapiens Q9BYR5
Validated Y2H
25416956
Intra SLC23A1 Q9UHI7 ADAMTSL4 Homo sapiens Q6UY14-3
Validated Y2H
25416956
Intra SLC23A1 Q9UHI7 AHCYL1 Homo sapiens O43865
Y2H Array
25416956
Intra SLC23A1 Q9UHI7 AHCYL1 Homo sapiens O43865
Validated Y2H
25416956
Intra SLC23A1 Q9UHI7 MTUS2 Homo sapiens Q5JR59
Validated Y2H
25416956
Intra SLC23A1 Q9UHI7 MTUS2 Homo sapiens Q5JR59
Y2H Array
25416956
Intra SLC23A1 Q9UHI7 MTUS2 Homo sapiens Q5JR59
Y2H Prey Pooling
25416956
Intra SLC23A1 Q9UHI7 NOTCH2NLA Homo sapiens Q7Z3S9
Y2H Array
25416956
Intra SLC23A1 Q9UHI7 NOTCH2NLA Homo sapiens Q7Z3S9
Validated Y2H
25416956
Intra SLC23A1 Q9UHI7 NOTCH2NLA Homo sapiens Q7Z3S9
Y2H Prey Pooling
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Hypoascorbemia

Scurvy

Ascorbic Acid Deficiency

Vitamin C Deficiency

Vitamin C, Inability To Synthesize

Deficiency Of Vitamin C

Scorbutus

Vitamin C

Aggressive Periodontitis

Juvenile Periodontitis

Periodontitis, Juvenile

Prepubertal Periodontitis

Hemophagocytic Lymphohistiocytosis, Familial, 2

Familial Hemophagocytic Lymphohistiocytosis 2

FHL2

Hplh2

Hlh2

Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility To

Lymphohistiocytosis, Hemophagocytic, Familial, Type 2

Osmotic Diarrhea
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
Felis catus SLC23A1 VGNC VGNC:65247
Rattus norvegicus SLC23A1 RGD RGD:619875
Canis familiaris SLC23A1 VGNC VGNC:46282
Macaca mulatta SLC23A1 VGNC VGNC:77423
Bos taurus SLC23A1 VGNC VGNC:34733
Mus musculus SLC23A1 MGD MGI:1341903