1. Gene
  2. SLC26A1 - solute carrier family 26 member 1 Gene

SLC26A1 - solute carrier family 26 member 1 Gene

中文名称:溶质载体家族 26 成员 1

种属: Homo sapiens

同用名: CAON; EDM4; SAT1; SAT-1

基因 ID: 10861 | 基因类型: protein coding

关于 SLC26A1

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:978,991-993,404 (from NCBI)

This gene has 5 transcripts (splice variants), 198 orthologues, 9 paralogues and is associated with 1 phenotype. Broad expression in kidney (RPKM 6.4), liver (RPKM 1.9) and 19 other tissues.

功能概要

该基因是硫酸盐/阴离子转运基因家族的成员。家族成员在基因组 (外显子的数量和大小) 和蛋白质 (物种之间的长度) 结构方面非常保守,但具有明显不同的组织表达模式。该基因主要在肝脏、胰腺和大脑中表达。已经确定了编码不同亚型的三种剪接变体。[RefSeq 提供,2008 年 7 月]

This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, but have markedly different tissue expression patterns. This gene is primarily expressed in the liver, pancreas, and brain. Three splice variants that encode different isoforms have been identified. [provided by RefSeq, Jul 2008]

SLC26A1 基因产物(3)

mRNA Protein Name
NM_022042.4 NP_071325.2 sulfate anion transporter 1 isoform a
NM_134425.4 NP_602297.1 sulfate anion transporter 1 isoform b
NM_213613.4 NP_998778.1 sulfate anion transporter 1 isoform a
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables solute:inorganic anion antiporter activity IDA
IDA: 通过直接分析推断
12713736 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

SLC26A1 蛋白结构

(54 - 137)

Sulfate_transp

Sulfate_transp: Sulfate permease family (195 - 473)

STAS

STAS: STAS domain (535 - 683)

  • 0
  • 200
  • 400
  • 600
  • 701 a.a.
蛋白主名 其他名称

sulfate anion transporter 1

solute carrier family 26 (anion exchanger), member 1

关联疾病

疾病名称 别名
Nephrolithiasis, Calcium Oxalate

Kidney Stones

Calculus Of Kidney

Kidney Calculi

Nephrolithiasis

Renal Calculi

Calcium Oxalate Urolithiasis

CAON

Urolithiasis, Calcium Oxalate

Calcium Oxalate Nephrolithiasis

Kidney Stone

Nephrolith

Renal Calculus

Urinary Stones

Renal Stone

Calculus, Kidney

Calculus, Renal

Renal Lithiasis

Renal Stones

Urolithiasis

Renal Calculus Or Stone

Stone In Kidney

Nephritic Calculus

Multiple Kidney Calculi

Multiple Kidney Calculus

Nephrolithiasis Nos

Pelvic Nephrolithiasis

Pelviolithiasis

Pelvis Nephrolithiasis

Hurler Syndrome

Mucopolysaccharidosis Ih

Mucopolysaccharidosis Type Ih

Mps1-H

MPS1H

Hurler Disease

Mpsih

Mucopolysaccharidosis Type 1h

Alpha-L-Iduronidase Deficiency

Dysostosis Multiplex

Dysostosis Multiplex Syndrome

Gargoylism

Hurler Disease Mps Type 1h

Hurler-Pfaundler Syndrome

L-Iduronidase Deficiency, Hurler Type

Mucopolysaccharidosis Type I Severe Form

Mucopolysaccharidosis 1h

Hurler'S Syndrome

Mps Ih

Mps-Ih

Pfaundler-Hurler Syndrome

Mucopolysaccharidosis I

Hurler-Scheie Syndrome

Mucopolysaccharidosis Type Ih/S

Mucopolysaccharidosis Ih/S

MPS1H/S

Mpsih/S

Mucopolysaccharidosis Type 1h/S

Mps1-Hs

Alpha-L-Iduronidase Deficiency

Mucopolysaccharidosis I

Mucopolysaccharidosis 1h/S

Mps-Ih/S

Scheie Syndrome

Mucopolysaccharidosis Type Is

Alpha-L-Iduronidase Deficiency

Mucopolysaccharidosis Type I

Mucopolysaccharidosis I

Hurler-Scheie Syndrome

Mucopolysaccharidosis Type 1

Mucopolysaccharidosis Is

Mucopolysaccharidosis Type 1s

Mucopolysaccharidosis Type V

Hurler Syndrome

Idua Deficiency

Mps I

MPS1S

Mps1-S

Mucopolysaccharidosis Type V, Formerly

Mps V, Formerly

Mps5, Formerly

Lipochondrodystrophy

Mpsis

Mucopolysaccharidosis, Type I

Iduronidase Deficiency Disease

Mps I - Hurler Syndrome

Mucopolysaccharidosis, Mps-I

Mucopolysaccharidosis, Type 1

Attenuated Mps I

Mps 1

Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V)

Severe Mps I

Mps I H

Mps I H-S

Mps I S

Mps1

Mpsi

Mucopolysaccharidosis 1s

Mps Is

Mps-Is

Mps V

Mucopolysaccharidosis V

Pfaundler-Hurler Syndrome

L-Iduronidase Deficiency

Dysostosis Multiplex

Dysostosis Multiplex Syndrome

Gargoylism

Mps1 - [Mucopolysaccharidosis Type 1]

Nephrolithiasis

Kidney Stones

Stone - Kidney/Ureter

Kidney Calculi

Urolithiasis
Diastrophic Dysplasia

Diastrophic Dwarfism

DTD

Dd

Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant

Dysplasia, Diastrophic

Diastrophic Dysplasia Variant

Thiamine Metabolism Dysfunction Syndrome 2

Biotin-Responsive Basal Ganglia Disease

Basal Ganglia Disease, Biotin-Responsive

THMD2

Bbgd

Btbgd

Encephalopathy, Thiamine-Responsive

Thiamine Metabolism Dysfunction Syndrome 2, Biotin- Or Thiamine-Responsive Type

Thiamine-Responsive Encephalopathy

Brown-Vialetto-Van Laere Syndrome 2

BVVLS2

Rfvt3-Related Riboflavin Transporter Deficiency

Rtd3

Riboflavin Transporter Deficiency 3

Brown-Vialetto-Van Laere Syndrome, Type 2

Atelosteogenesis

Atelosteogenesis, Type 1

Pendred Syndrome

Goiter-Deafness Syndrome

Deafness With Goiter

PDS

Thyroid Dyshormonogenesis 2b

Tdh2b

Autosomal Recessive Sensorineural Hearing Impairment And Goiter

Pendred'S Syndrome

Thyroid Hormonogenesis, Genetic Defect In, 2b

Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b

Congenital Hypothyroidism Due To Dyshormonogenesis 2b

Genetic Defect In Thyroid Hormonogenesis 2b

Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter

Goiter-Hearing Loss Syndrome

Goitre-Deafness Syndrome

Goitre Deafness

Renal Tubular Acidosis

Acidosis Renal Tubular

Acidosis, Renal Tubular

Lightwood-Albright Syndrome

Lightwood Syndrome

Idiopathic Infantile Hypercalcemia - Mild Form

Kidney Tubular Acidosis

Renal Tubule Acidosis

Kidney Acidosis

Renal Acidosis

Renal Hyperchloremic Acidosis

Rta - [Renal Tubular Acidosis]

Cystinuria

CSNU

Cystinuria Type B

Cystinuria Type A

Cystinuria, Type I, Formerly

Csnu1, Formerly

Cystinuria, Type Ii, Formerly

Cystinuria, Type Iii, Formerly

Csnu3, Formerly

Cystinuria, Type Non-I, Formerly

Cystinuria-Lysinuria

Cystinuria-Lysinuria Syndrome

Csnu1

Csnu3

Cystinuria 1

Cystinuria Type A/B

Cystinuria Type I

Cystinuria Type Ii

Cystinuria Type Iii

Cystinuria Type Non-I

Cystinuria, Type A/B

Cystinuria Type 1

Cystinuria - Lysinuria

Csnu - [Cystinuria]

Cystine Disease

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
Rattus norvegicus SLC26A1 RGD RGD:620136
Mus musculus SLC26A1 MGD MGI:2385894
Macaca mulatta SLC26A1 VGNC VGNC:77437
Canis familiaris SLC26A1 VGNC VGNC:46320
Bos taurus SLC26A1 VGNC VGNC:34775