Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6573
Gene name	Solute carrier family 19 member 1
Gene symbol	SLC19A1
Synonyms (NCBI Gene)	CHMDFOLTIFC-1IFC1IMD114MEGAFREFCRFCRFC1RFT-1hRFChSLC19A1
Chromosome	21
Chromosome location	21q22.3
Summary	The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar

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Show/Hide all (127)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051284	hsa-miR-16-5p	CLASH	23622248
MIRT048799	hsa-miR-93-5p	CLASH	23622248
MIRT045982	hsa-miR-125b-5p	CLASH	23622248
MIRT042257	hsa-miR-484	CLASH	23622248
MIRT626471	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT626470	hsa-miR-4422	HITS-CLIP	23824327
MIRT626469	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT626468	hsa-miR-607	HITS-CLIP	23824327
MIRT626467	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT626471	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT626470	hsa-miR-4422	HITS-CLIP	23824327
MIRT626469	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT626468	hsa-miR-607	HITS-CLIP	23824327
MIRT626467	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT1353652	hsa-miR-1224-5p	CLIP-seq
MIRT1353653	hsa-miR-124	CLIP-seq
MIRT1353654	hsa-miR-1245b-3p	CLIP-seq
MIRT1353655	hsa-miR-125a-5p	CLIP-seq
MIRT1353656	hsa-miR-125b	CLIP-seq
MIRT1353657	hsa-miR-1470	CLIP-seq
MIRT1353658	hsa-miR-23a	CLIP-seq
MIRT1353659	hsa-miR-23b	CLIP-seq
MIRT1353660	hsa-miR-23c	CLIP-seq
MIRT1353661	hsa-miR-3684	CLIP-seq
MIRT1353662	hsa-miR-4265	CLIP-seq
MIRT1353663	hsa-miR-4281	CLIP-seq
MIRT1353664	hsa-miR-4296	CLIP-seq
MIRT1353665	hsa-miR-4300	CLIP-seq
MIRT1353666	hsa-miR-4319	CLIP-seq
MIRT1353667	hsa-miR-4322	CLIP-seq
MIRT1353668	hsa-miR-4417	CLIP-seq
MIRT1353669	hsa-miR-4448	CLIP-seq
MIRT1353670	hsa-miR-4492	CLIP-seq
MIRT1353671	hsa-miR-4498	CLIP-seq
MIRT1353672	hsa-miR-4648	CLIP-seq
MIRT1353673	hsa-miR-4654	CLIP-seq
MIRT1353674	hsa-miR-4708-3p	CLIP-seq
MIRT1353675	hsa-miR-4725-5p	CLIP-seq
MIRT1353676	hsa-miR-4751	CLIP-seq
MIRT1353677	hsa-miR-4769-5p	CLIP-seq
MIRT1353678	hsa-miR-496	CLIP-seq
MIRT1353679	hsa-miR-499-3p	CLIP-seq
MIRT1353680	hsa-miR-499a-3p	CLIP-seq
MIRT1353681	hsa-miR-504	CLIP-seq
MIRT1353682	hsa-miR-506	CLIP-seq
MIRT1353683	hsa-miR-544b	CLIP-seq
MIRT1353684	hsa-miR-595	CLIP-seq
MIRT1353685	hsa-miR-646	CLIP-seq
MIRT1353686	hsa-miR-762	CLIP-seq
MIRT1353687	hsa-miR-920	CLIP-seq
MIRT1353688	hsa-miR-1224-3p	CLIP-seq
MIRT1353655	hsa-miR-125a-5p	CLIP-seq
MIRT1353656	hsa-miR-125b	CLIP-seq
MIRT1353689	hsa-miR-1260	CLIP-seq
MIRT1353690	hsa-miR-1260b	CLIP-seq
MIRT1353691	hsa-miR-1280	CLIP-seq
MIRT1353692	hsa-miR-1914	CLIP-seq
MIRT1353693	hsa-miR-199a-5p	CLIP-seq
MIRT1353694	hsa-miR-199b-5p	CLIP-seq
MIRT1353695	hsa-miR-3151	CLIP-seq
MIRT1353696	hsa-miR-3157-3p	CLIP-seq
MIRT1353697	hsa-miR-331-3p	CLIP-seq
MIRT1353698	hsa-miR-3620	CLIP-seq
MIRT1353699	hsa-miR-3657	CLIP-seq
MIRT1353700	hsa-miR-4253	CLIP-seq
MIRT1353663	hsa-miR-4281	CLIP-seq
MIRT1353701	hsa-miR-4284	CLIP-seq
MIRT1353666	hsa-miR-4319	CLIP-seq
MIRT1353702	hsa-miR-4437	CLIP-seq
MIRT1353703	hsa-miR-4447	CLIP-seq
MIRT1353704	hsa-miR-4449	CLIP-seq
MIRT1353705	hsa-miR-4472	CLIP-seq
MIRT1353706	hsa-miR-4640-5p	CLIP-seq
MIRT1353707	hsa-miR-4676-5p	CLIP-seq
MIRT1353708	hsa-miR-4688	CLIP-seq
MIRT1353709	hsa-miR-4721	CLIP-seq
MIRT1353710	hsa-miR-4726-5p	CLIP-seq
MIRT1353711	hsa-miR-491-5p	CLIP-seq
MIRT1353712	hsa-miR-532-3p	CLIP-seq
MIRT1353713	hsa-miR-575	CLIP-seq
MIRT1353700	hsa-miR-4253	CLIP-seq
MIRT1353714	hsa-miR-4316	CLIP-seq
MIRT1353707	hsa-miR-4676-5p	CLIP-seq
MIRT1353708	hsa-miR-4688	CLIP-seq
MIRT1353713	hsa-miR-575	CLIP-seq
MIRT2104643	hsa-miR-4753-5p	CLIP-seq
MIRT2329130	hsa-miR-1207-5p	CLIP-seq
MIRT1353688	hsa-miR-1224-3p	CLIP-seq
MIRT1353655	hsa-miR-125a-5p	CLIP-seq
MIRT1353656	hsa-miR-125b	CLIP-seq
MIRT2329131	hsa-miR-146b-3p	CLIP-seq
MIRT2329132	hsa-miR-1909	CLIP-seq
MIRT2329133	hsa-miR-22	CLIP-seq
MIRT2329134	hsa-miR-2355-5p	CLIP-seq
MIRT2329135	hsa-miR-29a	CLIP-seq
MIRT2329136	hsa-miR-29b	CLIP-seq
MIRT2329137	hsa-miR-29c	CLIP-seq
MIRT2329138	hsa-miR-3173-5p	CLIP-seq
MIRT2329139	hsa-miR-335	CLIP-seq
MIRT2329140	hsa-miR-3659	CLIP-seq
MIRT2329141	hsa-miR-3663-3p	CLIP-seq
MIRT2329142	hsa-miR-3714	CLIP-seq
MIRT1353666	hsa-miR-4319	CLIP-seq
MIRT2329143	hsa-miR-4436b-3p	CLIP-seq
MIRT2329144	hsa-miR-451b	CLIP-seq
MIRT2329145	hsa-miR-4658	CLIP-seq
MIRT2329146	hsa-miR-4701-5p	CLIP-seq
MIRT2329147	hsa-miR-4716-3p	CLIP-seq
MIRT2329148	hsa-miR-4738-5p	CLIP-seq
MIRT2329149	hsa-miR-4763-3p	CLIP-seq
MIRT1353683	hsa-miR-544b	CLIP-seq
MIRT2329150	hsa-miR-574-5p	CLIP-seq
MIRT2329151	hsa-miR-588	CLIP-seq
MIRT2329152	hsa-miR-625	CLIP-seq
MIRT2329153	hsa-miR-663b	CLIP-seq
MIRT2329154	hsa-miR-874	CLIP-seq
MIRT1353655	hsa-miR-125a-5p	CLIP-seq
MIRT1353656	hsa-miR-125b	CLIP-seq
MIRT1353693	hsa-miR-199a-5p	CLIP-seq
MIRT1353694	hsa-miR-199b-5p	CLIP-seq
MIRT2394623	hsa-miR-3160-3p	CLIP-seq
MIRT1353697	hsa-miR-331-3p	CLIP-seq
MIRT1353699	hsa-miR-3657	CLIP-seq
MIRT1353666	hsa-miR-4319	CLIP-seq
MIRT2394624	hsa-miR-4487	CLIP-seq
MIRT2394625	hsa-miR-4774-5p	CLIP-seq
MIRT2394626	hsa-miR-558	CLIP-seq

Show/Hide all (7)

Transcription factor	Regulation	Reference
CEBPB	Activation	15652157
CREB1	Unknown	11078737
JUN	Unknown	11078737
SP1	Activation	15652157
TFAP2A	Activation	12228234
USF1	Activation	15214842
USF2	Activation	15214842

Show/Hide all (62)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005542	Function	Folic acid binding	IBA
GO:0005542	Function	Folic acid binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	23137377, 28112518
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7826387
GO:0006855	Process	Xenobiotic transmembrane transport	IEA
GO:0006855	Process	Xenobiotic transmembrane transport	ISS
GO:0007565	Process	Female pregnancy	IEA
GO:0008514	Function	Organic anion transmembrane transporter activity	IEA
GO:0008514	Function	Organic anion transmembrane transporter activity	ISS
GO:0008517	Function	Folic acid transmembrane transporter activity	IDA	36071163, 36265513, 36575193
GO:0008517	Function	Folic acid transmembrane transporter activity	IEA
GO:0008517	Function	Folic acid transmembrane transporter activity	ISS
GO:0008517	Function	Folic acid transmembrane transporter activity	TAS	7826387
GO:0008518	Function	Folate:monoatomic anion antiporter activity	IBA
GO:0008518	Function	Folate:monoatomic anion antiporter activity	IDA	14609557, 22554803
GO:0008518	Function	Folate:monoatomic anion antiporter activity	IEA
GO:0008518	Function	Folate:monoatomic anion antiporter activity	IMP	28885847
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0015297	Function	Antiporter activity	IDA	22554803
GO:0015297	Function	Antiporter activity	IEA
GO:0015350	Function	Methotrexate transmembrane transporter activity	IDA	22554803
GO:0015350	Function	Methotrexate transmembrane transporter activity	IEA
GO:0015350	Function	Methotrexate transmembrane transporter activity	TAS	8276792
GO:0015711	Process	Organic anion transport	IEA
GO:0015711	Process	Organic anion transport	ISS
GO:0015884	Process	Folic acid transport	IEA
GO:0015884	Process	Folic acid transport	IMP	28885847
GO:0015884	Process	Folic acid transport	ISS
GO:0015884	Process	Folic acid transport	TAS	7826387
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IDA	10787414, 31791063
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	10787414, 31791063
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0031526	Component	Brush border membrane	IEA
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IEA
GO:0042910	Function	Xenobiotic transmembrane transporter activity	ISS
GO:0046655	Process	Folic acid metabolic process	TAS
GO:0051180	Process	Vitamin transport	IEA
GO:0051958	Process	Methotrexate transport	IDA	22554803
GO:0051958	Process	Methotrexate transport	IEA
GO:0061507	Function	2',3'-cyclic GMP-AMP binding	IDA	31126740, 31511694
GO:0090482	Function	Vitamin transmembrane transporter activity	IEA
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0098838	Process	Folate transmembrane transport	IBA
GO:0098838	Process	Folate transmembrane transport	IDA	22554803
GO:0098838	Process	Folate transmembrane transport	IEA
GO:0140360	Function	Cyclic-GMP-AMP transmembrane transporter activity	IDA	31126740, 31511694
GO:0140361	Process	Cyclic-GMP-AMP transmembrane import across plasma membrane	IDA	31126740, 31511694
GO:0141111	Process	Positive regulation of cGAS/STING signaling pathway	IMP	36745868
GO:0150104	Process	Transport across blood-brain barrier	NAS	30280653
GO:0150104	Process	Transport across blood-brain barrier	TAS	28885847
GO:1904447	Process	Folate import across plasma membrane	IDA	14609557, 22554803
GO:1904447	Process	Folate import across plasma membrane	IEA

MIM	HGNC	e!Ensembl
600424	10937	ENSG00000173638

P41440

Protein name

Reduced folate transporter (FOLT) (Cyclic dinucleotide:anion antiporter SLC19A1) (Folate:anion antiporter SLC19A1) (Intestinal folate carrier 1) (IFC-1) (Placental folate transporter) (Reduced folate carrier protein) (RFC) (hRFC) (Reduced folate transport

Protein function

Antiporter that mediates the import of reduced folates or a subset of cyclic dinucleotides, driven by the export of organic anions (PubMed:10787414, PubMed:15337749, PubMed:16115875, PubMed:22554803, PubMed:31126740, PubMed:31511694, PubMed:3227

PDB

7TX6 , 7TX7 , 7XPZ , 7XQ0 , 7XQ1 , 7XQ2 , 7XTK , 8DEP , 8GOE , 8GOF , 8HII , 8HIJ , 8HIK , 9JOZ , 9JRI , 9JRK , 9JRL , 9JRM , 9JRN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01770	Folate_carrier	23 → 434	Reduced folate carrier	Family

Tissue specificity

TISSUE SPECIFICITY: Placenta, liver, and to a much smaller extent, in lung. {ECO:0000269|PubMed:7826387}.

Sequence

MVPSSPAVEKQVPVEPGPDPELRSWRHLVCYLCFYGFMAQIRPGESFITPYLLGPDKNFT
REQVTNEITPVLSYSYLAVLVPVFLLTDYLRYTPVLLLQGLSFVSVWLLLLLGHSVAHMQ
LMELFYSVTMAARIAYSSYIFSLVRPARYQRVAGYSRAAVLLGVFTSSVLGQLLVTVGRV
SFSTLNYISLAFLTFSVVLALFLKRPKRSLFFNRDDRGRCETSASELERMNPGPGGKLGH
ALRVACGDSVLARMLRELGDSLRRPQLRLWSLWWVFNSAGYYLVVYYVHILWNEVDPTTN
SARVYNGAADAASTLLGAITSFAAGFVKIRWARWSKLLIAGVTATQAGLVFLLAHTRHPS
SIWLCYAAFVLFRGSYQFLVPIATFQIASSLSKELCALVFGVNTFFATIVKTIITFIVSD
VRGLGLPVRKQFQLYSVYFLILSIIYFLGAMLDGLRHCQRGHHPRQPPAQGLRSAAEEKA
AQALSVQDKGLGGLQPAQSPPLSPEDSLGAVGPASLEQRQSDPYLAQAPAPQAAEFLSPV
TTPSPCTLCSAQASGPEAADETCPQLAVHPPGVSKLGLQCLPSDGVQNVNQ

Sequence length

591

Interactions

View interactions

	KEGG		Reactome
	Antifolate resistance Vitamin digestion and absorption Folate transport and metabolism		Metabolism of folate and pterines

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Immunodeficiency 114, folate-responsive	Pathogenic	rs2077855956	RCV003444103

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs79091853	RCV005926059
Clear cell carcinoma of kidney	Benign	rs79091853	RCV005926060
Colon adenocarcinoma	Benign	rs79091853	RCV005926057
Colorectal cancer	Benign	rs79091853	RCV005926062
Familial cancer of breast	Uncertain significance	rs373685390	RCV005926646
Gastrointestinal stromal tumor	drug response	rs1051266	RCV000144916
Hepatocellular carcinoma	Benign	rs79091853	RCV005926058
Lung cancer	drug response	rs1051266	RCV004797782
Megaloblastic anemia, folate-responsive	Uncertain significance	rs757838708, rs2078177014	RCV001796461 RCV005628390
Melanoma	Benign; Uncertain significance	rs79091853, rs142360873	RCV005926067 RCV005930642
methotrexate response - Efficacy	drug response	rs1051266	RCV001788041
Ovarian serous cystadenocarcinoma	Benign	rs79091853	RCV005926064
Sarcoma	Benign; Uncertain significance	rs79091853, rs142360873	RCV005926063 RCV005930641
SLC19A1-related disorder	Benign; Likely benign	rs138047632, rs577753141, rs763544507, rs79066928, rs975257559, rs930466223, rs1250359930, rs148243729, rs57725551, rs59638403, rs564794512	RCV003913594 RCV003951326 RCV003961070 RCV003906392 RCV003909792 RCV003934709 RCV003959008 RCV003944357 RCV003903319 RCV003922925 RCV003933016
Thymoma	Benign	rs79091853	RCV005926065
Thyroid cancer, nonmedullary, 1	Benign	rs79091853	RCV005926066
Uterine corpus endometrial carcinoma	Benign	rs79091853	RCV005926068
Uveal melanoma	Benign	rs79091853	RCV005926061

Show/Hide Text Mining Associations (61)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma	Associate	21274745
Adrenal Insufficiency	Associate	19650776
Alzheimer Disease	Associate	24554143
Aortic Aneurysm Abdominal	Associate	20871623
Aortic Dissection	Associate	20871623
Arthritis Rheumatoid	Associate	22450926, 26587663, 30175777, 34302046
Atrioventricular Septal Defect	Associate	20718043
Autism Spectrum Disorder	Associate	27213354
Autistic Disorder	Associate	27213354
Bone Marrow Diseases	Associate	20335220
Breast Neoplasms	Associate	24130171, 25598430, 31544789, 32894086
Carcinoma Hepatocellular	Associate	27936032
Carcinoma Non Small Cell Lung	Associate	20651609
Cardiovascular Diseases	Associate	19650776
Chromosome 21 monosomy	Associate	35361402
Chromosome 21 ring	Associate	35361402
Colorectal Neoplasms	Associate	17449906, 24143213, 26193446, 33172410
Conotruncal cardiac defects	Associate	30165839
Death	Stimulate	25860940
Dementia Vascular	Associate	24554143
Dissection Thoracic Aorta	Associate	20871623
Down Syndrome	Associate	21045269, 22377700, 33933170
Drug Related Side Effects and Adverse Reactions	Associate	20335220, 30927276
Episodic Ataxia	Associate	31786878
Fetal Growth Retardation	Associate	26830322
Fetal Growth Retardation	Inhibit	29986308
Folate Malabsorption Hereditary	Associate	37201763
Gastrointestinal Stromal Tumors	Associate	25227144
Graft vs Host Disease	Inhibit	25425682
Heart Defects Congenital	Associate	20718043
Hematologic Diseases	Associate	25041994
Hypoxia	Associate	35958555
Infertility	Associate	19324355
Intraocular Lymphoma	Associate	18379939
Laryngeal Neoplasms	Associate	23838799
Lesch Nyhan Syndrome	Associate	38172668
Leukemia	Associate	12519783, 16160003, 20335220
Leukemia T Cell	Associate	12139489
Lung Neoplasms	Associate	30939165
Lupus Erythematosus Systemic	Associate	31544789
Lymphoma	Associate	15327516, 18379939
Meningomyelocele	Associate	20683905, 26250961, 28948692
Mesothelioma Malignant	Associate	28415584
Multiple Myeloma	Associate	23952215, 35958555
Neoplasm Residual	Associate	27427275
Neoplasms	Associate	21760912, 24419420, 25860940, 28765560, 31544789
Neoplasms	Inhibit	23144806
Neoplasms Squamous Cell	Associate	24114512
Neural Tube Defects	Associate	19650776
Neuroblastoma	Associate	25536437, 25860940
Neutropenia	Associate	30927276
Obesity	Associate	21514551, 28106509
Osteoporosis	Associate	32498429
Ovarian Neoplasms	Inhibit	23144806
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	20335220, 24367687
Prostatic Neoplasms	Associate	30396163
Rectal Neoplasms	Associate	33172410
Sarcoma Myeloid	Associate	25877407
Small Cell Lung Carcinoma	Associate	22186609
Urinary Bladder Neoplasms	Associate	21760912
Wilms Tumor	Associate	25536437

SLC19A1 (solute carrier family 19 member 1)