SLC46A1 (solute carrier family 46 member 1)

2008-12-01  

Identity

HGNC
LOCATION
17q11.2
LOCUSID
ALIAS
G21,HCP1,PCFT

Other Information

Locus ID:

NCBI: 113235
MIM: 611672
HGNC: 30521
Ensembl: ENSG00000076351

Variants:

dbSNP: 113235
ClinVar: 113235
TCGA: ENSG00000076351
COSMIC: SLC46A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000076351ENST00000581516J3KTE6
ENSG00000076351ENST00000582735J3QL21
ENSG00000076351ENST00000584426K7EPJ7
ENSG00000076351ENST00000584995J3QRF7
ENSG00000076351ENST00000612814Q96NT5
ENSG00000076351ENST00000612814A0A024QZ15
ENSG00000076351ENST00000618626Q96NT5
ENSG00000076351ENST00000618626A0A024QZ44

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Vitamin digestion and absorptionKEGGko04977
Vitamin digestion and absorptionKEGGhsa04977
Mineral absorptionKEGGko04978
Mineral absorptionKEGGhsa04978
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Iron uptake and transportREACTOMER-HSA-917937
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Metabolism of folate and pterinesREACTOMER-HSA-196757
Antifolate resistanceKEGGko01523
Antifolate resistanceKEGGhsa01523

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA450428methotrexateChemicalPathwayassociated21317831

References

Pubmed IDYearTitleCitations
171297792006Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.239
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
174463472007The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.63
229546942012The human proton-coupled folate transporter: Biology and therapeutic applications to cancer.57
190744422009A role for the proton-coupled folate transporter (PCFT-SLC46A1) in folate receptor-mediated endocytosis.49
200367732010Expression of folate transporters in human placenta and implications for homocysteine metabolism.38
194038002009Role of the glutamate 185 residue in proton translocation mediated by the proton-coupled folate transporter SLC46A1.36
174759022007Functional characterization of human proton-coupled folate transporter/heme carrier protein 1 heterologously expressed in mammalian cells as a folate transporter.35
202258912010Membrane topological analysis of the proton-coupled folate transporter (PCFT-SLC46A1) by the substituted cysteine accessibility method.34
208053642010Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption.31

Citation

Dessen P

SLC46A1 (solute carrier family 46 member 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50593/slc46a1