2. Gene
  3. SLC52A1 - solute carrier family 52 member 1 Gene

SLC52A1 - solute carrier family 52 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 52 成员 1

种属: Homo sapiens

同用名: PAR2; RFT1; RBFVD; RFVT1; hRFT1; GPCR42; GPR172B; huPAR-2

基因 ID: 55065 | 基因类型: protein coding

关于 SLC52A1

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:5,032,602-5,042,414 (from NCBI)

This gene has 5 transcripts (splice variants), 175 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in duodenum (RPKM 20.9), placenta (RPKM 16.1) and 2 other tissues.

功能概要

生物氧化还原反应需要电子供体和受体。维生素 B2 是黄素腺嘌呤二核苷酸 (FAD) 和黄素单核苷酸 (FMN) 中黄素的来源，它们是常见的氧化还原试剂。该基因编码核黄素 (维生素 B2) 转运蛋白家族的成员。这种蛋白质的单倍体不足会导致母体核黄素缺乏。已经鉴定出编码相同蛋白质的多个可变剪接变体。[RefSeq 提供，2013 年 1 月]

Biological redox reactions require electron donors and acceptor. Vitamin B2 is the source for the flavin in flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) which are common redox reagents. This gene encodes a member of the riboflavin (vitamin B2) transporter family. Haploinsufficiency of this protein can cause maternal riboflavin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013]

SLC52A1 基因产物(2)

mRNA Protein Name
NM_001104577.2 NP_001098047.1 solute carrier family 52, riboflavin transporter, member 1 precursor
NM_017986.4 NP_060456.3 solute carrier family 52, riboflavin transporter, member 1 precursor
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 protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables riboflavin transmembrane transporter activity IDA
IDA: 通过直接分析推断
20463145 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in riboflavin transport IDA
IDA: 通过直接分析推断
20463145 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
20463145 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

SLC52A1 蛋白结构

DUF1011

DUF1011: Protein of unknown function (DUF1011) (276 - 374)

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

solute carrier family 52, riboflavin transporter, member 1

G protein-coupled receptor 172B

SLC52A1 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
SLC52A1 Q9NWF4 TMEM237 Homo sapiens Q96Q45-2
Y2H Prey Pooling
32296183
种属内
SLC52A1 Q9NWF4 TMEM237 Homo sapiens Q96Q45-2
Y2H Array
32296183
种属内
SLC52A1 Q9NWF4 TMEM179B Homo sapiens Q7Z7N9
Y2H Prey Pooling
32296183
种属内
SLC52A1 Q9NWF4 TMEM179B Homo sapiens Q7Z7N9
Y2H Array
32296183
种属内
SLC52A1 Q9NWF4 AQP6 Homo sapiens Q13520
Y2H Array
32296183
种属内
SLC52A1 Q9NWF4 AQP6 Homo sapiens Q13520
Y2H Prey Pooling
32296183
种属内
SLC52A1 Q9NWF4 GJA8 Homo sapiens P48165
Y2H Array
32296183
种属内
SLC52A1 Q9NWF4 GJA8 Homo sapiens P48165
Y2H Prey Pooling
32296183
种属内
SLC52A1 Q9NWF4 SHISAL1 Homo sapiens Q3SXP7
Y2H Array
32296183
种属内
SLC52A1 Q9NWF4 SHISAL1 Homo sapiens Q3SXP7
Y2H Prey Pooling
32296183
种属内
SLC52A1 Q9NWF4 IFNGR2 Homo sapiens P38484
Y2H Prey Pooling
32296183
种属内
SLC52A1 Q9NWF4 IFNGR2 Homo sapiens P38484
Y2H Array
32296183
种属内
SLC52A1 Q9NWF4 SLC7A1 Homo sapiens P30825
Y2H Array
32296183
种属内
SLC52A1 Q9NWF4 SLC7A1 Homo sapiens P30825
Y2H Prey Pooling
32296183
种属内
SLC52A1 Q9NWF4 SGCB Homo sapiens Q16585
Y2H Prey Pooling
32296183
种属内
SLC52A1 Q9NWF4 SGCB Homo sapiens Q16585
Y2H Array
32296183
种属内
SLC52A1 Q9NWF4 CREB3L1 Homo sapiens Q96BA8
Y2H Prey Pooling
32296183
种属内
SLC52A1 Q9NWF4 CREB3L1 Homo sapiens Q96BA8
Y2H Array
32296183
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
Riboflavin Deficiency

Ariboflavinosis

Maternal Riboflavin Deficiency

RBFVD

Vitamin B2 Deficiency

Hyporiboflavinosis
Brown-Vialetto-Van Laere Syndrome
Fazio-Londe Disease

Fazio-Londe Syndrome

Riboflavin Transporter Deficiency Neuronopathy

Brown-Vialetto-Van Laere Syndrome

Progressive Bulbar Palsy Of Childhood

Bulbar Palsy, Progressive, Of Childhood

Bvvls

Pontobulbar Palsy With Deafness

Progressive Bulbar Palsy With Sensorineural Deafness

Riboflavin Transporter Deficiency

FALOND

Bulbar Palsy Progressive Of Childhood

Bulbar Palsy Of Childhood, Progressive
Progressive Bulbar Palsy

Bulbar Palsy, Progressive

Progressive Bulbar Atrophy

Bulbar Palsy

Pbp - [Progressive Bulbar Palsy]

Progressive Bulbar Paralysis

Bulbar Paralysis

Chronic Bulbar Palsy

Chronic Bulbar Paralysis

Supranuclear Bulbar Paralysis
Brown-Vialetto-Van Laere Syndrome 2

BVVLS2

Rfvt3-Related Riboflavin Transporter Deficiency

Rtd3

Riboflavin Transporter Deficiency 3

Brown-Vialetto-Van Laere Syndrome, Type 2
Multiple Acyl-Coa Dehydrogenase Deficiency

MADD

Ethylmalonic-Adipicaciduria

Ema

Glutaric Acidemia Iia

Glutaric Acidemia Iib

Ga Ii

Glutaric Acidemia Iic

Glutaric Acidemia Type 2

Glutaric Acidemia Ii

Glutaric Aciduria Ii

Electron Transfer Flavoprotein Deficiency

Glutaric Aciduria Type 2

Mad Deficiency

Glutaric Acidemia Type Ii

Glutaric Aciduria 2

Etfa Deficiency

Etfb Deficiency

Etfdh Deficiency

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

Ga2

Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency

Electron Transfer Flavoprotein Dehydrogenase Deficiency

Ga 2

Glutaric Acidemia 2

Glutaric Acidemia, Type 2

Glutaric Aciduria, Type 2

Mad

Multiple Fad Dehydrogenase Deficiency

Ethylmalonic Adipic Aciduria

Glutaricaciduria Ii

Glutaric Aciduria 2a

GA2A

Gaiia

Glutaricaciduria Iia

Glutaric Aciduria 2b

GA2B

Gaiib

Glutaricaciduria Iib

Glutaric Aciduria 2c

GA2C

Gaiic

Glutaricaciduria Iic

Glutaricaciduria, Type Iia

Glutaric Acidemia Type 2a

Glutaric Acidemia Type 2c

Glutaric Aciduria Iia

Glutaric Aciduria Iib

Glutaric Aciduria Iic
Schwannoma Of Twelfth Cranial Nerve

Hypoglossal Schwannoma

Schwannoma Of The Twelfth Cranial Nerve
Hypoglossal Nerve Disease

Hypoglossal Nerve Diseases

Disorder Of 12th Nerve

Disorder Of Hypoglossal [12th] Nerve

Disorder Of Hypoglossal Nerve

Disorder Of Xii Nerve

Disorders Of The Twelfth Cranial Nerve

Disorders Of 12th Cranial Nerve
Angular Cheilitis

Cheilosis

Angular Cheilosis

Angular Stomatitis

Commissural Cheilitis
Primary Optic Atrophy
Mitochondrial Complex I Deficiency, Nuclear Type 20

Acyl-Coa Dehydrogenase 9 Deficiency

Acad9 Deficiency

MC1DN20

Mitochondrial Complex I Deficiency Due To Acad9 Deficiency

Nuclear Type Mitochondrial Complex I Deficiency 20

Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of

Mitochondrial Complex 1 Deficiency Due To Acad9 Deficiency

Deficiency Of Acyl-Coa Dehydrogenase Family Member 9

Acyl-Coa Dehydrogenase Family, Member 9, Deficiency
Motor Neuron Disease

Anterior Horn Cell Disease

Motor Neuron Diseases

Mnd - [Motor Neurone Disease]

Lou Gehrig Disease

Creeping Palsy

Creeping Paralysis

Bulbar Motor Neuron Disease

Bulbar Syndrome

Anterior Horn Cell Disorder

Hereditary Motor Neuron Disease
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of

Vlcad Deficiency

Very Long Chain Acyl-Coa Dehydrogenase Deficiency

Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Lcad Deficiency

Very Long-Chain Acyl-Coa Dehydrogenase Deficiency

Long Chain Acyl-Coa Dehydrogenase Deficiency

ACADVLD

Acadl Deficiency

Vlcadd

Long-Chain Acyl-Coa Dehydrogenase Deficiency

Acadvl

Acyl-Coa Dehydrogenase Very Long Chain Deficiency

Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency

Vlcad-C

Vlcad-H

Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of

Acyl-Coa Dehydrogenase Very Long-Chain Deficiency

Acyl-Coa Dehydrogenase Long-Chain Deficiency

Deficiency, Very Long Chain Acyl-Coa Dehydrogenase

Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency
Cranial Nerve Palsy

Cranial Nerve Paralysis

Cranial Nerve Diseases

Cranial Nerve Palsies
Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of
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-RS13277 SLC52A1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus SLC52A1 MGD MGI:1289288
Macaca mulatta SLC52A1 VGNC VGNC:77795
Others SLC52A1 NCBI
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