• Gene id: 6573

Gene Summary

• Gene Symbol: SLC19A1   Gene   UCSC   Ensembl
• Aliases: CHMD, FOLT, IFC1, REFC, RFC1
• Gene name: solute carrier family 19 member 1
• Alternate names: folate transporter 1, IFC-1, RFC, intestinal folate carrier 1, placental folate transporter, reduced folate carrier 1, reduced folate carrier protein, solute carrier family 19 (folate transporter), member 1,
• Gene location: 21q22.3 (45563139: 45502516)     Exons: 17     NC_000021.9
• Gene summary(Entrez): 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
• OMIM: 600424

SNPs

rs1051266

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.45537880T>C
NC_000021.9   g.45537880T>G
NC_000021.8   g.46957794T>C
NC_000021.8   g.46957794T>G
NG_028278.2   g.30264A>G
NG_028278.2   g.30264A>C
NM_194255.4   c.80A>G
NM_194255.4   c.80A>C
NM_194255.3   c.80A>G
NM_194255.3   c.80A>C
NM_194255.2   c.80A>G
  

Protein Summary

• Protein general information: P41440  
  • Name: Folate transporter 1 (FOLT) (Intestinal folate carrier 1) (IFC 1) (Placental folate transporter) (Reduced folate carrier protein) (RFC) (Solute carrier family 19 member 1)
  • Length: 591  
  • Mass: 64,868
• Sequence:

  MVPSSPAVEKQVPVEPGPDPELRSWRHLVCYLCFYGFMAQIRPGESFITPYLLGPDKNFTREQVTNEITPVLSYS
  YLAVLVPVFLLTDYLRYTPVLLLQGLSFVSVWLLLLLGHSVAHMQLMELFYSVTMAARIAYSSYIFSLVRPARYQ
  RVAGYSRAAVLLGVFTSSVLGQLLVTVGRVSFSTLNYISLAFLTFSVVLALFLKRPKRSLFFNRDDRGRCETSAS
  ELERMNPGPGGKLGHALRVACGDSVLARMLRELGDSLRRPQLRLWSLWWVFNSAGYYLVVYYVHILWNEVDPTTN
  SARVYNGAADAASTLLGAITSFAAGFVKIRWARWSKLLIAGVTATQAGLVFLLAHTRHPSSIWLCYAAFVLFRGS
  YQFLVPIATFQIASSLSKELCALVFGVNTFFATIVKTIITFIVSDVRGLGLPVRKQFQLYSVYFLILSIIYFLGA
  MLDGLRHCQRGHHPRQPPAQGLRSAAEEKAAQALSVQDKGLGGLQPAQSPPLSPEDSLGAVGPASLEQRQSDPYL
  AQAPAPQAAEFLSPVTTPSPCTLCSAQASGPEAADETCPQLAVHPPGVSKLGLQCLPSDGVQNVNQ

• Structural information:
  • Interpro: IPR002666  IPR020846  IPR036259  IPR028339  
  • CDD: cd06174
  • STRING: ENSP00000308895
• Other Databases: GeneCards:  SLC19A1  Malacards:  SLC19A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005542	folic acid binding	IBA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0007565	female pregnancy	IEA	biological process
GO:0008517	folic acid transporter activity	ISS	molecular function
GO:0008517	folic acid transporter activity	TAS	molecular function
GO:0008518	reduced folate carrier activity	IDA	molecular function
GO:0015350	methotrexate transporter activity	IEA	molecular function
GO:0015884	folic acid transport	ISS	biological process
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0031526	brush border membrane	IEA	cellular component
GO:0046655	folic acid metabolic process	TAS	biological process
GO:0051958	methotrexate transport	IEA	biological process
GO:0098838	reduced folate transmembrane transport	IDA	biological process
GO:0005542	folic acid binding	IEA	molecular function
GO:0005542	folic acid binding	IBA	molecular function
GO:0005542	folic acid binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006810	transport	IEA	biological process
GO:0006810	transport	IEA	biological process
GO:0007565	female pregnancy	IEA	biological process
GO:0008517	folic acid transporter activity	IEA	molecular function
GO:0008517	folic acid transporter activity	IEA	molecular function
GO:0008517	folic acid transporter activity	ISS	molecular function
GO:0008517	folic acid transporter activity	TAS	molecular function
GO:0008517	folic acid transporter activity	TAS	molecular function
GO:0008518	reduced folate carrier activity	IEA	molecular function
GO:0008518	reduced folate carrier activity	IDA	molecular function
GO:0015350	methotrexate transporter activity	IEA	molecular function
GO:0015350	methotrexate transporter activity	IEA	molecular function
GO:0015350	methotrexate transporter activity	TAS	molecular function
GO:0015884	folic acid transport	IEA	biological process
GO:0015884	folic acid transport	IEA	biological process
GO:0015884	folic acid transport	ISS	biological process
GO:0015884	folic acid transport	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0031526	brush border membrane	IEA	cellular component
GO:0046655	folic acid metabolic process	TAS	biological process
GO:0051958	methotrexate transport	IEA	biological process
GO:0051958	methotrexate transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0098838	reduced folate transmembrane transport	IDA	biological process
GO:0005542	folic acid binding	IBA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0008517	folic acid transporter activity	ISS	molecular function
GO:0008517	folic acid transporter activity	TAS	molecular function
GO:0008517	folic acid transporter activity	TAS	molecular function
GO:0008518	reduced folate carrier activity	IDA	molecular function
GO:0015350	methotrexate transporter activity	TAS	molecular function
GO:0015884	folic acid transport	ISS	biological process
GO:0015884	folic acid transport	TAS	biological process
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0046655	folic acid metabolic process	TAS	biological process
GO:0098838	reduced folate transmembrane transport	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04977	Vitamin digestion and absorption
hsa01523	Antifolate resistance

Diseases

Associated diseases	References
Cancer	GAD: 17891500
Cancer (adenocarcinoma)	GAD: 20056620
Cancer (bladder)	GAD: 17311259
Cancer (breast)	GAD: 17311260
Cancer (colorectal)	GAD: 16284371
Cancer (esophageal)	GAD: 16962770
Cancer (leukemia)	GAD: 12411325
Cancer (lung)	GAD: 15922487
Cancer (lymphoma)	GAD: 15198953
Cancer (non-Hodgkin lymphoma)	GAD: 16365025
Cancer (prostate)	GAD: 19706844
Cancer (stomach)	GAD: 17208363
Aneurysm	GAD: 18635682
Apoplexy	GAD: 20458436
Cardiovascular disease	GAD: 14632302
Thromboembolism	GAD: 14632302
Congenital abnormalities	GAD: 20718043
Hyperhomocysteinemia	GAD: 18427977
Down syndrome	GAD: 16115349
Spinal dysraphism	GAD: 19161160
Neural tube defects	GAD: 15059614
Cleft defects	GAD: 16712703
Hyperparathyroidism	GAD: 20424473
Rheumatoid arthritis	GAD: 18322994
Crohn's disease	GAD: 16141796
Rheumatoid arthritis	GAD: 15457444
Insulin resistance	GAD: 21901158
Chronic renal failure	GAD: 21085059
Kidney diseases	GAD: 12707400
Unexplained infertility	INFBASE: 19324355
Male factor infertility	MIK: 20233025
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Omphalocele	GAD: 15937947
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 20233025

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20233025	Male infertility	SLC19A1 gene (rs1051266:G>A, 80G>A)	Caucasi an	439 (213 infertile Caucasian men, 226 ethnically matched controls)	Male infertility	SLC19A1
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq