SLC52A1 (solute carrier family 52 member 1)

2018-07-01 Affiliation

Identity

HGNC

SLC52A1

LOCATION

17p13.2

LOCUSID

55065

ALIAS

GPCR42,GPR172B,PAR2,RBFVD,RFT1,RFVT1,hRFT1,huPAR-2

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 55065
MIM: 607883
HGNC: 30225
Ensembl: ENSG00000132517

Variants:

dbSNP: 55065
ClinVar: 55065
TCGA: ENSG00000132517
COSMIC: SLC52A1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000132517	ENST00000254853	Q9NWF4
ENSG00000132517	ENST00000424747	Q9NWF4
ENSG00000132517	ENST00000512825	F5H5Y1

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Metabolism	REACTOME	R-HSA-1430728
Metabolism of vitamins and cofactors	REACTOME	R-HSA-196854
Metabolism of water-soluble vitamins and cofactors	REACTOME	R-HSA-196849
Vitamin B2 (riboflavin) metabolism	REACTOME	R-HSA-196843

References

Pubmed ID	Year	Title	Citations
18632736	2008	Identification and functional characterization of a novel human and rat riboflavin transporter, RFT1.	39
23506902	2013	Novel riboflavin transporter family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52.	28
23413253	2013	Differentiation-dependent regulation of intestinal vitamin B(2) uptake: studies utilizing human-derived intestinal epithelial Caco-2 cells and native rat intestine.	6
29122468	2017	An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.	4
24139842	2013	Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.	3
30156861	2018	Effect of the proinflammatory cytokine TNF-α on intestinal riboflavin uptake: inhibition mediated via transcriptional mechanism(s).	3
25284511	2014	Identification and characterization of 5'-flanking region of the human riboflavin transporter 1 gene (SLC52A1).	2
29715086	2018	The Expression of Riboflavin Transporters in Human Colorectal Cancer.	2
22702469	2012	Binding of transcription factor activating protein 2 γ on the 5'-proximal promoter region of human porcine endogenous retrovirus subgroup A receptor 2/GPR172B.	1

Citation

Dessen P

SLC52A1 (solute carrier family 52 member 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57551/slc52a1