2. Gene
  3. SLC13A1 - solute carrier family 13 member 1 Gene

SLC13A1 - solute carrier family 13 member 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：溶质载体家族 13 成员 1

种属: Homo sapiens

同用名: NAS1; NaSi-1

基因 ID: 6561 | 基因类型: protein coding

关于 SLC13A1

Cytogenetic location: 7q31.32 Genomic coordinates (GRCh38): 7:123,113,531-123,199,971 (from NCBI)

This gene has 4 transcripts (splice variants), 204 orthologues and 5 paralogues. Biased expression in kidney (RPKM 26.2), small intestine (RPKM 5.7) and 1 other tissue.

功能概要

该基因编码的蛋白质是一种顶膜 Na (+) -硫酸盐协同转运蛋白，参与肾脏中的硫酸盐稳态。该基因的缺陷会导致许多病理生理问题。[RefSeq 提供，2016 年 5 月]

The protein encoded by this gene is an apical membrane Na(+)-sulfate cotransporter involved in sulfate homeostasis in the kidney. Defects in this gene lead to many pathophysiologic problems. [provided by RefSeq, May 2016]

SLC13A1 基因产物(2)

mRNA Protein Name
NM_001324400.1 NP_001311329.1 solute carrier family 13 member 1 isoform 2
NM_022444.4 NP_071889.2 solute carrier family 13 member 1 isoform 1

SLC13A1 蛋白结构

Na_sulph_symp

Na_sulph_symp: Sodium:sulfate symporter transmembrane region (9 - 577)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 595 a.a.
蛋白主名 其他名称

solute carrier family 13 member 1

Na(+)/sulfate cotransporter

关联疾病

疾病名称 别名
Achondrogenesis, Type Ib

ACG1B

Achondrogenesis Type Ib

Achondrogenesis Type 1b

Achondrogenesis Ib

Achondrogenesis Fraccaro Type

Achondrogenesis, Fraccaro Type

Achondrogenesis, Parenti-Fraccaro Type

Achondrogenesis 1b

Acg-Ib

Fraccaro Achondrogenesis
Nephrotic Syndrome, Type 14

Sphingosine Phosphate Lyase Insufficiency Syndrome

Nephrotic Syndrome 14

NPHS14

Splis

Nephrotic Syndrome Type 14

Sgpl1 Deficiency

Steroid-Resistant Nephrotic Syndrome Type 14

Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency

Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency
Atelosteogenesis

Atelosteogenesis, Type 1
Developmental And Epileptic Encephalopathy 25

Developmental And Epileptic Encephalopathy, 25

Dee25

Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta

Early Infantile Epileptic Encephalopathy 25

Encephalopathy, Epileptic, Early Infantile, Type 25
Brown-Vialetto-Van Laere Syndrome 2

BVVLS2

Rfvt3-Related Riboflavin Transporter Deficiency

Rtd3

Riboflavin Transporter Deficiency 3

Brown-Vialetto-Van Laere Syndrome, Type 2
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13005 SLC13A1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris SLC13A1 VGNC VGNC:46227
Bos taurus SLC13A1 VGNC VGNC:34673
Felis catus SLC13A1 VGNC VGNC:65196
Mus musculus SLC13A1 MGD MGI:1859937
Rattus norvegicus SLC13A1 RGD RGD:61919
Macaca mulatta SLC13A1 VGNC VGNC:77391
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