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SLC46A1 (solute carrier family 46 member 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
113235
Gene nameGene Name - the full gene name approved by the HGNC.
Solute carrier family 46 member 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SLC46A1
SynonymsGene synonyms aliases
G21, HCP1, HsPCFT, PCFT, hPCFT
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q11.2
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 459
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term dbSNP ID References
Anemia Anemia, Anemia, Megaloblastic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 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, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hyperhomocysteinemia Hyperhomocysteinemia rs121964962, rs121964963, rs121964964, rs5742905, rs121964966, rs121964967, rs121964968, rs121964969, rs28934891, rs375846341, rs121964972, rs121964973, rs398123151, rs786204466, rs786204679, rs763036586, rs771298943, rs758236584, rs775351239, rs764160782, rs770095972, rs760214620, rs786204757, rs794727083, rs781444670, rs149119723, rs769080151, rs372010465, rs777919630, rs863223432, rs863223430, rs773734233, rs762065361, rs775992753, rs778220779, rs863223435, rs199948079, rs148865119, rs779250698, rs886057100, rs1057516895, rs760417941, rs781567152, rs1057517373, rs766453711, rs763835246, rs755952006, rs1057517083, rs1057516256, rs751464024, rs748695461, rs757920190, rs1064794540, rs1064793703, rs377708532, rs528689432, rs757428597, rs1361324844, rs1347651454, rs1555871188, rs143124288, rs760609383, rs755625628, rs1555876784, rs1555869958, rs1555869979, rs1434118781, rs1555874121, rs763290176, rs1555874803, rs1555875292, rs865990681, rs1000697114, rs1568932835, rs1234354755, rs1170128038, rs1601339216, rs1981524462, rs376916741, rs373782713, rs1983442077 19204075
Unknown
Disease name Disease term dbSNP ID References
Anorexia Anorexia
Cheilitis Cheilitis
Dyskinetic syndrome Dyskinetic syndrome
Eosinophilia Eosinophilia

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