SLC52A1 - solute carrier family 52 member 1 Gene

Also Known as PAR2; RFT1; RBFVD; RFVT1; hRFT1; GPCR42; GPR172B; huPAR-2

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 55065

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables riboflavin transmembrane transporter activity	IDA IDA: Inferred from direct assay	20463145	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in riboflavin transport	IDA IDA: Inferred from direct assay	20463145	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in plasma membrane	IDA IDA: Inferred from direct assay	20463145	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC52A1 Protein Structure

DUF1011

0
100
200
300
400
448 a.a.

Protein Preferred Names	Protein Names
solute carrier family 52, riboflavin transporter, member 1	G protein-coupled receptor 172B

SLC52A1 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	SLC52A1	Q9NWF4	TMEM237	Homo sapiens	Q96Q45-2	Y2H Prey Pooling	32296183
Intra	SLC52A1	Q9NWF4	TMEM237	Homo sapiens	Q96Q45-2	Y2H Array	32296183
Intra	SLC52A1	Q9NWF4	TMEM179B	Homo sapiens	Q7Z7N9	Y2H Prey Pooling	32296183
Intra	SLC52A1	Q9NWF4	TMEM179B	Homo sapiens	Q7Z7N9	Y2H Array	32296183
Intra	SLC52A1	Q9NWF4	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	SLC52A1	Q9NWF4	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	SLC52A1	Q9NWF4	GJA8	Homo sapiens	P48165	Y2H Array	32296183
Intra	SLC52A1	Q9NWF4	GJA8	Homo sapiens	P48165	Y2H Prey Pooling	32296183
Intra	SLC52A1	Q9NWF4	SHISAL1	Homo sapiens	Q3SXP7	Y2H Array	32296183
Intra	SLC52A1	Q9NWF4	SHISAL1	Homo sapiens	Q3SXP7	Y2H Prey Pooling	32296183
Intra	SLC52A1	Q9NWF4	IFNGR2	Homo sapiens	P38484	Y2H Prey Pooling	32296183
Intra	SLC52A1	Q9NWF4	IFNGR2	Homo sapiens	P38484	Y2H Array	32296183
Intra	SLC52A1	Q9NWF4	SLC7A1	Homo sapiens	P30825	Y2H Array	32296183
Intra	SLC52A1	Q9NWF4	SLC7A1	Homo sapiens	P30825	Y2H Prey Pooling	32296183
Intra	SLC52A1	Q9NWF4	SGCB	Homo sapiens	Q16585	Y2H Prey Pooling	32296183
Intra	SLC52A1	Q9NWF4	SGCB	Homo sapiens	Q16585	Y2H Array	32296183
Intra	SLC52A1	Q9NWF4	CREB3L1	Homo sapiens	Q96BA8	Y2H Prey Pooling	32296183
Intra	SLC52A1	Q9NWF4	CREB3L1	Homo sapiens	Q96BA8	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS13277	SLC52A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Mus musculus	SLC52A1	MGD	MGI:1289288
Macaca mulatta	SLC52A1	VGNC	VGNC:77795
Others	SLC52A1	NCBI