1. Gene
  2. SLC52A3 - solute carrier family 52 member 3 Gene

SLC52A3 - solute carrier family 52 member 3 Gene

中文名称:溶质载体家族 52 成员 3

种属: Homo sapiens

同用名: RFT2; BVVLS; RFVT3; hRFT2; BVVLS1; C20orf54; bA371L19.1

基因 ID: 113278 | 基因类型: protein coding

关于 SLC52A3

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:760,080-780,033 (from NCBI)

This gene has 9 transcripts (splice variants), 211 orthologues, 2 paralogues and is associated with 4 phenotypes. Biased expression in testis (RPKM 24.2), small intestine (RPKM 7.2) and 7 other tissues.

功能概要

该基因编码一种在肠道中强烈表达的核黄素转运蛋白,可能在核黄素的肠道吸收中发挥作用。预计该蛋白质在 C 末端具有 11 个跨膜结构域和细胞表面定位信号。该位点的突变与 Brown-Vialetto-Van Laere 综合征和 Fazio-Londe 病有关。[RefSeq 提供,2012 年 3 月]

This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. [provided by RefSeq, Mar 2012]

SLC52A3 基因产物(3)

mRNA Protein Name
NM_001370085.1 NP_001357014.1 solute carrier family 52, riboflavin transporter, member 3
NM_001370086.1 NP_001357015.1 solute carrier family 52, riboflavin transporter, member 3
NM_033409.4 NP_212134.3 solute carrier family 52, riboflavin transporter, member 3
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
32814053 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
involved in sensory perception of sound IMP
IMP: 通过突变表型推断
20206331 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
29428966 GOA
located in nucleus IDA
IDA: 通过直接分析推断
29428966 GOA
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

SLC52A3 蛋白结构

DUF1011

DUF1011: Protein of unknown function (DUF1011) (296 - 395)

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

solute carrier family 52, riboflavin transporter, member 3

SLC52A3a

SLC52A3 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
SLC52A3 Q9NQ40 DNM2 Homo sapiens P50570-2 32814053
种属内
SLC52A3 Q9NQ40 DNM2 Homo sapiens P50570-2 32814053
种属内
SLC52A3 Q9NQ40 DNM2 Homo sapiens P50570-2 32814053
种属内
SLC52A3 Q9NQ40 TOR1A Homo sapiens O14656-2 32814053
种属内
SLC52A3 Q9NQ40 TOR1A Homo sapiens O14656-2 32814053
种属内
SLC52A3 Q9NQ40 TOR1A Homo sapiens O14656-2 32814053
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
Brown-Vialetto-Van Laere Syndrome 1

BVVLS1

Pontobulbar Palsy With Deafness

Bulbar Palsy, Progressive, With Sensorineural Deafness

Rfvt2-Related Riboflavin Transporter Deficiency

Rtd2

Riboflavin Transporter Deficiency 2

Bulbar Palsy Progressive With Sensorineural Deafness

Riboflavin Transporter Deficiency Type 2

Brown-Vialetto-Van Laere Syndrome, Type 1

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

Riboflavin Transporter Deficiency

Brown-Vialetto-Van Laere Syndrome

Pontobulbar Palsy And Neurosensory Deafness

Progressive Bulbar Palsy

Bvvls

Pontobulbar Palsy With Deafness

Progressive Bulbar Palsy With Sensorineural Deafness

Progressive Bulbar Atrophy

Brown-Vialetto-Van Laere Syndrome 2

BVVLS2

Rfvt3-Related Riboflavin Transporter Deficiency

Rtd3

Riboflavin Transporter Deficiency 3

Brown-Vialetto-Van Laere Syndrome, Type 2

Brown-Vialetto-Van Laere Syndrome
Madras Motor Neuron Disease

Mmnd

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

Riboflavin Deficiency

Ariboflavinosis

Maternal Riboflavin Deficiency

RBFVD

Vitamin B2 Deficiency

Hyporiboflavinosis

Chronic Apical Periodontitis

Apical Periodontitis Nos

Apex Periodontitis

Periapical Infection Nos

Cardia Cancer

Ca Cardia - Stomach

Malignant Neoplasm Of Cardia Of Stomach

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

Respiratory Failure

Acute Respiratory Failure

Chronic Respiratory Failure

Respiratory Insufficiency

Acute-On-Chronic Respiratory Failure

Respiratory Disease

Acute And Chronic Respiratory Failure

Respiratory Insufficiency/Failure

Chronic Respiratory Disease

Pulmonary Valve Insufficiency

Chronic Disease Of Respiratory System

Respiration Disorders

Respiratory Tract Diseases

Lung Failure Nos

Pulmonary Failure

Arf - [Acute Respiratory Failure]

Acute Respiratory Insufficiency

Acute Pulmonary Insufficiency

Acute Respiration Failure

Chronic Respiration Failure

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

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Gastric Cardia Adenocarcinoma

Adenocarcinoma Of Cardia Of Stomach

Adenocarcinoma Of Gastric Cardia

Dry Beriberi
Cranial Nerve Palsy

Cranial Nerve Paralysis

Cranial Nerve Diseases

Cranial Nerve Palsies

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
Macaca mulatta SLC52A3 VGNC VGNC:77717
Mus musculus SLC52A3 MGD MGI:1916948
Rattus norvegicus SLC52A3 RGD RGD:1304644
Felis catus SLC52A3 VGNC VGNC:65397
Bos taurus SLC52A3 VGNC VGNC:34902
Canis familiaris SLC52A3 VGNC VGNC:46442
Others SLC52A3 NCBI
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