Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
113235
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 46 member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC46A1
Synonyms (NCBI Gene) Gene synonyms aliases
G21, HCP1, HsPCFT, PCFT, hPCFT
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choro
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs80338769 C>-,CC Pathogenic Frameshift variant, 5 prime UTR variant, coding sequence variant
rs80338770 G>A,T Pathogenic, not-provided Missense variant, coding sequence variant
rs80338771 C>G Pathogenic, not-provided Missense variant, coding sequence variant
rs80338772 G>C Pathogenic, not-provided Missense variant, coding sequence variant
rs154623632 GC>TT Pathogenic 5 prime UTR variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT040975 hsa-miR-18a-3p CLASH 23622248
MIRT503684 hsa-miR-561-3p PAR-CLIP 23446348
MIRT503683 hsa-miR-449b-3p PAR-CLIP 23446348
MIRT503682 hsa-miR-130a-3p PAR-CLIP 23446348
MIRT503681 hsa-miR-130b-3p PAR-CLIP 23446348
Transcription factors
Transcription factor Regulation Reference
NRF1 Activation 20724482
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005542 Function Folic acid binding IEA
GO:0005737 Component Cytoplasm ISS
GO:0005886 Component Plasma membrane IDA 17129779, 28112518
GO:0005886 Component Plasma membrane TAS
GO:0006879 Process Cellular iron ion homeostasis TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611672 30521 ENSG00000076351
Protein
UniProt ID Q96NT5
Protein name Proton-coupled folate transporter (HsPCFT) (hPCFT) (Heme carrier protein 1) (PCFT/HCP1) (Solute carrier family 46 member 1)
Protein function Proton-coupled folate symporter that mediates folate absorption using an H(+) gradient as a driving force (PubMed:17129779, PubMed:17446347, PubMed:17475902, PubMed:19389703, PubMed:19762432, PubMed:25504888, PubMed:29344585, PubMed:30858177, Pu
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07690 MFS_1 29 407 Major Facilitator Superfamily Family
Tissue specificity TISSUE SPECIFICITY: Expressed at highest level in the upper half of the small intestine (duodenum and jejunum), expression decreases downwardly in the subsequent quarter and is undetectable in the last quarter (the lowest ileum) (PubMed:17129779, PubMed:1
Sequence
Sequence length 459
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Antifolate resistance
Vitamin digestion and absorption
Mineral absorption
Folate transport and metabolism
  Metabolism of folate and pterines
Iron uptake and transport
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Anemia, Megaloblastic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
21346251, 17641272
Congenital defect of folate absorption Folate Malabsorption, Hereditary rs80338775, rs80338769, rs80338770, rs80338772, rs80338773, rs80338774, rs397515574, rs397515391, rs281875209, rs1597834560 17446347, 18559978, 20686069, 17129779, 27604308, 27664775, 21333572, 20805364, 11804211
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hyperhomocysteinemia Hyperhomocysteinemia rs121964962, rs121964963, rs121964964, rs5742905, rs121964966, rs121964967, rs121964968, rs121964969, rs28934891, rs375846341, rs121964972, rs121964973, rs398123151, rs786204466, rs786204679
View all (66 more)
19204075
Associations from Text Mining
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 26789141
Central Nervous System Diseases Associate 21333572
Cleft Lip Associate 26789141
Cleft Palate Associate 26789141
Colorectal Neoplasms Associate 25697897, 26193446
Folate Malabsorption Hereditary Associate 17446347, 18718264, 19074442, 19403800, 19740703, 20005757, 20225891, 20724482, 20795774, 20805364, 21333572, 21489556, 21602279, 22345511, 22785121
View all (7 more)
Genetic Diseases Inborn Associate 18718264, 19074442, 20225891, 20724482, 22785121
Hemochromatosis Associate 19176287
Leukemia Associate 32295203
Mesothelioma Associate 28945836