2. Gene
  3. SLC6A20 - solute carrier family 6 member 20 Gene

SLC6A20 - solute carrier family 6 member 20 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 20

种属: Homo sapiens

同用名: XT3; SIT1; IMINO; Xtrp3

基因 ID: 54716 | 基因类型: protein coding

关于 SLC6A20

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:45,755,449-45,796,536 (from NCBI)

This gene has 8 transcripts (splice variants), 209 orthologues, 19 paralogues and is associated with 3 phenotypes. Biased expression in duodenum (RPKM 11.0), small intestine (RPKM 8.2) and 4 other tissues.

功能概要

小的亲水性物质跨细胞膜的转运是由底物特异性转运蛋白介导的，这些转运蛋白被分为几个相关基因家族。该基因编码的蛋白质属于钠：神经递质同向转运蛋白 (SNF) 家族，在肾脏和小肠中作为脯氨酸转运蛋白发挥作用。该基因的突变与高甘氨酸尿症和亚氨基甘氨酸尿症有关。[RefSeq 提供，2020 年 7 月]

Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene belongs to the sodium:neurotransmitter symporter (SNF) family and functions as a proline transporter expressed in kidney and small intestine. Mutations in this gene are associated with Hyperglycinuria and Iminoglycinuria. [provided by RefSeq, Jul 2020]

SLC6A20 基因产物(6)

mRNA Protein Name
NM_001385683.1 NP_001372612.1 sodium- and chloride-dependent transporter XTRP3 isoform 3
NM_001406066.1 NP_001392995.1 sodium- and chloride-dependent transporter XTRP3 isoform 4
NM_001406067.1 NP_001392996.1 sodium- and chloride-dependent transporter XTRP3 isoform 5
NM_001406069.1 NP_001392998.1 sodium- and chloride-dependent transporter XTRP3 isoform 6
NM_020208.4 NP_064593.1 sodium- and chloride-dependent transporter XTRP3 isoform 1
NM_022405.4 NP_071800.1 sodium- and chloride-dependent transporter XTRP3 isoform 2
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
enables L-proline transmembrane transporter activity IDA
IDA: 通过直接分析推断
15632147 GOA
enables L-proline transmembrane transporter activity IGI
IGI: 通过遗传相互作用推断
25534429 GOA
enables amino acid transmembrane transporter activity IDA
IDA: 通过直接分析推断
15632147 GOA
enables neutral L-amino acid transmembrane transporter activity IMP
IMP: 通过突变表型推断
19033659 GOA
enables proline:sodium symporter activity IDA
IDA: 通过直接分析推断
33428810 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables solute:sodium symporter activity IDA
IDA: 通过直接分析推断
33428810 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in L-proline import across plasma membrane IDA
IDA: 通过直接分析推断
15632147 GOA
involved in L-proline import across plasma membrane IGI
IGI: 通过遗传相互作用推断
25534429 GOA
involved in amino acid transport IDA
IDA: 通过直接分析推断
15632147 GOA
involved in glycine import across plasma membrane IDA
IDA: 通过直接分析推断
33428810 GOA
involved in glycine transport IMP
IMP: 通过突变表型推断
19033659 GOA
involved in proline import across plasma membrane IMP
IMP: 通过突变表型推断
19033659 GOA
involved in proline transport IMP
IMP: 通过突变表型推断
19033659 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
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

SLC6A20 蛋白结构

SNF

SNF: Sodium:neurotransmitter symporter family (5 - 579)

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

sodium- and chloride-dependent transporter XTRP3

X transporter protein 3

SLC6A20 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
种属内
SLC6A20 Q9NP91 KRTAP10-8 Homo sapiens P60410
Y2H Prey Pooling
32296183
种属内
SLC6A20 Q9NP91 KRTAP10-8 Homo sapiens P60410
Y2H Array
25416956
种属内
SLC6A20 Q9NP91 KRTAP10-8 Homo sapiens P60410
Y2H Array
32296183
种属内
SLC6A20 Q9NP91 KRTAP10-9 Homo sapiens P60411
Y2H Prey Pooling
25416956
种属内
SLC6A20 Q9NP91 KRTAP10-9 Homo sapiens P60411
Y2H Array
25416956
种属内
SLC6A20 Q9NP91 KRTAP10-5 Homo sapiens P60370
Y2H Prey Pooling
25416956
种属内
SLC6A20 Q9NP91 KRTAP10-5 Homo sapiens P60370
Y2H Array
25416956
种属内
SLC6A20 Q9NP91 KRTAP10-7 Homo sapiens P60409
Y2H Array
25416956
种属内
SLC6A20 Q9NP91 ADAMTSL4 Homo sapiens Q6UY14-3
Y2H Prey Pooling
25416956
种属内
SLC6A20 Q9NP91 KRTAP1-1 Homo sapiens Q07627
Y2H Prey Pooling
32296183
种属内
SLC6A20 Q9NP91 KRTAP1-1 Homo sapiens Q07627
Y2H Array
32296183
种属内
SLC6A20 Q9NP91 NOTCH2NLC Homo sapiens P0DPK4
Y2H Array
32296183
种属内
SLC6A20 Q9NP91 NOTCH2NLC Homo sapiens P0DPK4
Y2H Prey Pooling
32296183
种属内
SLC6A20 Q9NP91 CYSRT1 Homo sapiens A8MQ03
Y2H Array
32296183
种属内
SLC6A20 Q9NP91 CYSRT1 Homo sapiens A8MQ03
Y2H Prey Pooling
32296183
种属内
SLC6A20 Q9NP91 NOTCH2NLA Homo sapiens Q7Z3S9
Validated Y2H
25416956
种属内
SLC6A20 Q9NP91 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
Iminoglycinuria

Iminoglycinuria, Digenic

IG
Hyperglycinuria

Glycinuria With Or Without Oxalate Urolithiasis

Glycinuria With Or Without Oxalate Nephrolithiasis

Iminoglycinuria Type Ii

HG
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
Smallpox

Variola

Ordinary Smallpox

Alastrim

Amaas
Digenic Disease
Combined Cellular And Humoral Immune Defects With Granulomas

Combined Immunodeficiency With Skin Granulomas

CCHIDG

Cid Due To Rag 1/2 Deficiency

Combined Immunodeficiency Due To Rag 1/2 Deficiency

Combined Immunodeficiency With Granulomatosis

CHIDG

Immune Defects, Combined Cellular And Humoral With Granulomas
Septicemic Plague

Plague, Septicemic
Cataract 44

CTRCT44

Total Early-Onset Cataract

Cataract 44 And Hypotrichosis

Cataract And Hypotrichosis

Cataract, Type 44
Bardet-Biedl Syndrome 1

BBS1

Bardet-Biedl Syndrome 1, Modifier Of

Bardet-Biedl Syndrome

BBS

Bardet-Biedl Syndrome, Type 1

Laurence-Moon-Bardet-Biedl Syndrome
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis
Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber
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-RS13307 SLC6A20 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus SLC6A20 VGNC VGNC:65414
Rattus norvegicus SLC6A20 RGD RGD:621651
Bos taurus SLC6A20 VGNC VGNC:34921
Canis familiaris SLC6A20 VGNC VGNC:46463
Macaca mulatta SLC6A20 VGNC VGNC:77804
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