2. Gene
  3. SLC6A19 - solute carrier family 6 member 19 Gene

SLC6A19 - solute carrier family 6 member 19 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 6 成员 19

种属: Homo sapiens

同用名: HND; B0AT1

基因 ID: 340024 | 基因类型: protein coding

关于 SLC6A19

Cytogenetic location: 5p15.33 Genomic coordinates (GRCh38): 5:1,201,595-1,225,111 (from NCBI)

This gene has 2 transcripts (splice variants), 363 orthologues, 19 paralogues and is associated with 6 phenotypes. Biased expression in small intestine (RPKM 76.0), duodenum (RPKM 71.7) and 1 other tissue.

功能概要

该基因编码一种系统 B (0) 跨膜蛋白，可主动将大多数中性氨基酸转运穿过上皮细胞的顶膜。该基因的突变可能导致 Hartnup 病症，这是一种具有糙皮病、小脑性共济失调和精神病等症状的遗传性疾病。 B0AT1 (SLC6A19) 在肠细胞中的表达和功能取决于辅助蛋白血管紧张素转换酶 2 (ACE2) 的存在，其除其他功能外，还充当 B0AT1 膜运输的伴侣。 ACE2 还是严重急性呼吸系统综合症冠状病毒 (SARS-CoV) 和导致 2019 年冠状病毒 (COVID-19) 大流行的 SARS-CoV-2 的细胞受体[RefSeq 提供，2020 年 7 月]

This gene encodes a system B(0) transmembrane protein that actively transports most neutral Amino acids across the apical membrane of epithelial cells. Mutations in this gene may result in Hartnup disorder, an inherited disease with symptoms such as pellagra, cerebellar ataxia, and psychosis. The expression and function of B0AT1 (SLC6A19) in intestinal cells depends on the presence of the accessory protein angiotensin-converting Enzyme 2 (ACE2) which, among Other functions, acts as a chaperone for membrane trafficking of B0AT1. The ACE2 is also the cellular receptor for severe acute respiratory syndrome-coronavirus (SARS-CoV) and for SARS-CoV-2 that is causing the coronavirus 2019 (COVID-19) pandemic [provided by RefSeq, Jul 2020]

SLC6A19 基因产物(1)

mRNA Protein Name
NM_001003841.3 NP_001003841.1 sodium-dependent neutral amino acid transporter B(0)AT1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables neutral L-amino acid transmembrane transporter activity IDA
IDA: 通过直接分析推断
18424768 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19185582 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
18424768 GOA
located in brush border membrane IDA
IDA: 通过直接分析推断
25534429 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

SLC6A19 蛋白结构

SNF

SNF: Sodium:neurotransmitter symporter family (32 - 607)

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

sodium-dependent neutral amino acid transporter B(0)AT1

broad neutral amino acid transporter 1

关联疾病

疾病名称 别名
Hartnup Disorder

Hartnup Disease

HND

Neutral 1 Amino Acid Transport Defect

Neutral Amino Acid Transport Defect

Deficiency Of Tryptophan Oxygenase

Hartnup'S Disease

Aminoaciduria, Hartnup Type

Disorder Of Neutral Amino Acid Transport
Hyperglycinuria

Glycinuria With Or Without Oxalate Urolithiasis

Glycinuria With Or Without Oxalate Nephrolithiasis

Iminoglycinuria Type Ii

HG
Iminoglycinuria

Iminoglycinuria, Digenic

IG
Pellagra

Niacin Deficiency

Niacin-Tryptophan Deficiency

Pellagroid Syndrome
Aminoaciduria
Covid-19

2019 Novel Coronavirus

2019-Ncov Infection

Covid19

Sars-Cov-2 Infection

Wuhan Coronavirus Infection

Wuhan Seafood Market Pneumonia Virus Infection
Lennox-Gastaut Syndrome

Lennox Syndrome

Encephalopathy Of Childhood

Epileptic Encephalopathy Lennox-Gastaut Type

Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves

Lgs
Severe Acute Respiratory Syndrome

Sars

Sars-Cov Infection

Sars-1

Sar Deficiency

Sars - [Severe Acute Respiratory Syndrome]
Digenic Disease
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
Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors

Inborn Errors Of Amino Acid Metabolism

Disorder Of Amino Acid Metabolism

Amino Acid Metabolism Disorders
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

Clinical Phase
生物活性分子 (1)
目录号 产品名 作用方式
纯度 Phase
HY-156682 JNT-517 Inhibitor 99.00% Phase 3
Pre-clinical Phase
生物活性分子 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-B1274 Cinromide Inhibitor 99.83% 否
HY-162864 JX237 98.84% 否
HY-158161 SLC6A19-IN-1 Inhibitor / 否
HY-RS13305 SLC6A19 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus SLC6A19 RGD RGD:1594328
Macaca mulatta SLC6A19 VGNC VGNC:77782
Mus musculus SLC6A19 MGD MGI:1921588
Canis familiaris SLC6A19 VGNC VGNC:46461
Bos taurus SLC6A19 VGNC VGNC:34919
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