SLC19A1 (solute carrier family 19 member 1)

2003-06-01 Affiliation

Identity

HGNC

SLC19A1

LOCATION

21q22.3

LOCUSID

6573

ALIAS

CHMD,FOLT,IFC-1,IFC1,MEGAF,REFC,RFC,RFC1,RFT-1,hRFC,hSLC19A1

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 6573
MIM: 600424
HGNC: 10937
Ensembl: ENSG00000173638

Variants:

dbSNP: 6573
ClinVar: 6573
TCGA: ENSG00000173638
COSMIC: SLC19A1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000173638	ENST00000311124	P41440
ENSG00000173638	ENST00000380010	P41440
ENSG00000173638	ENST00000417954	H0Y4T2
ENSG00000173638	ENST00000427839	C9JKP4
ENSG00000173638	ENST00000443742	C9J8K6
ENSG00000173638	ENST00000485649	P41440
ENSG00000173638	ENST00000528477	E9PIL5
ENSG00000173638	ENST00000567670	H3BTQ3
ENSG00000173638	ENST00000650808	P41440

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Vitamin digestion and absorption	KEGG	ko04977
Vitamin digestion and absorption	KEGG	hsa04977
Metabolism	REACTOME	R-HSA-1430728
Metabolism of vitamins and cofactors	REACTOME	R-HSA-196854
Metabolism of water-soluble vitamins and cofactors	REACTOME	R-HSA-196849
Metabolism of folate and pterines	REACTOME	R-HSA-196757
Antifolate resistance	KEGG	ko01523
Antifolate resistance	KEGG	hsa01523

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA10804	imatinib	Chemical	ClinicalAnnotation	associated		PD	30237583
PA10810	pemetrexed	Chemical	ClinicalAnnotation, VipGene	associated		PD	12571805, 19841321, 24732178
PA128406956	fluorouracil	Chemical	ClinicalAnnotation	associated		PD	16875718
PA131625240	raltitrexed	Chemical	VipGene	associated			11705857
PA151958383	Gastrointestinal Stromal Tumors	Disease	ClinicalAnnotation	associated		PD	30237583
PA164713176	Platinum compounds	Chemical	ClinicalAnnotation	associated		PD	29662106
PA166119041	drug-induced liver injury	Disease	VariantAnnotation	associated		PD	17410198
PA166122058	mucositis	Disease	VariantAnnotation	not associated		PD
PA166151827	adverse events	Disease	ClinicalAnnotation	associated		PD	31099054
PA166153643	rs1801131	Variant	GuidelineAnnotation	associated
PA166153644	rs1801133	Variant	GuidelineAnnotation	associated
PA166154581	rs4149081	Variant	GuidelineAnnotation	associated
PA166154633	rs11045879	Variant	GuidelineAnnotation	associated
PA166155973	rs12659	Variant	VipGene	associated			16875718, 15922487
PA166155986	rs1051266	Variant	VipGene	associated			11461197, 11705857, 11813127, 11857541, 12411325, 15564880, 15964598, 16019224, 16522921, 16962770, 17311260, 17325736, 17891500, 18322994, 19020309, 19706844, 10993718
PA166155988	rs1051298	Variant	VipGene	associated
PA166155990	rs1131596	Variant	VipGene	associated			17404734
PA443434	Arthritis, Rheumatoid	Disease	ClinicalAnnotation	associated	PK	PD	15457444, 15564880, 17325736, 18322994, 19827168, 23095111, 24350725, 25074866, 27217051, 31099054
PA443622	Carcinoma, Non-Small-Cell Lung	Disease	ClinicalAnnotation	associated		PD	19841321, 24732178, 29662106
PA443685	Uterine Cervical Neoplasms	Disease	ClinicalAnnotation	associated		PD	16875718
PA443937	Drug Toxicity	Disease	VariantAnnotation	not associated		PD	17323057
PA444367	Heart Defects, Congenital	Disease	VipGene	associated			16019224
PA444937	Mesothelioma	Disease	ClinicalAnnotation	associated		PD	19841321, 24732178
PA445062	Neoplasms	Disease	ClinicalAnnotation	associated	PK	PD	12411325, 12915598, 16462575, 17180579, 17264302, 17323057, 18458567, 20335220, 21747412, 22838948, 24241962, 24597986, 25303299, 25778468, 27409003, 28525903
PA445451	Psoriasis	Disease	VariantAnnotation	associated		PD	17410198
PA445850	Thrombosis	Disease	VipGene	associated			15964598
PA446108	Colorectal Neoplasms	Disease	ClinicalAnnotation	associated		PD
PA446155	Precursor Cell Lymphoblastic Leukemia-Lymphoma	Disease	ClinicalAnnotation, VariantAnnotation	ambiguous	PK	PD	17323057
PA448803	carboplatin	Chemical	ClinicalAnnotation	associated		PD	16875718
PA449014	cisplatin	Chemical	ClinicalAnnotation	associated		PD	16875718
PA450085	irinotecan	Chemical	ClinicalAnnotation	associated		PD
PA450198	leucovorin	Chemical	VipGene	associated			16115875
PA450379	mercaptopurine	Chemical	VariantAnnotation	not associated		PD	17323057
PA450428	methotrexate	Chemical	ClinicalAnnotation, GuidelineAnnotation, Pathway, VariantAnnotation, VipGene	ambiguous	PK	PD	10598550, 12411325, 12915598, 15457444, 15564880, 15797993, 16462575, 17180579, 17264302, 17323057, 17325736, 17410198, 18322994, 18458567, 19827168, 20335220, 21317831, 21747412, 22838948, 23095111, 24241962, 24350725, 24597986, 25074866, 25303299, 25778468, 27217051, 27409003, 28525903, 31099054

References

Pubmed ID	Year	Title	Citations
16917939	2006	Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism.	138
17334909	2007	Human reduced folate carrier: translation of basic biology to cancer etiology and therapy.	93
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
19493349	2009	118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.	62
15457444	2004	Polyglutamation of methotrexate with common polymorphisms in reduced folate carrier, aminoimidazole carboxamide ribonucleotide transformylase, and thymidylate synthase are associated with methotrexate effects in rheumatoid arthritis.	61
15457444	2004	Polyglutamation of methotrexate with common polymorphisms in reduced folate carrier, aminoimidazole carboxamide ribonucleotide transformylase, and thymidylate synthase are associated with methotrexate effects in rheumatoid arthritis.	61
17436311	2007	Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism.	51
17449906	2007	Genetic polymorphisms in one-carbon metabolism: associations with CpG island methylator phenotype (CIMP) in colon cancer and the modifying effects of diet.	46
12411325	2002	Polymorphism G80A in the reduced folate carrier gene and its relationship to methotrexate plasma levels and outcome of childhood acute lymphoblastic leukemia.	40
12411325	2002	Polymorphism G80A in the reduced folate carrier gene and its relationship to methotrexate plasma levels and outcome of childhood acute lymphoblastic leukemia.	40

Citation

Dessen P

SLC19A1 (solute carrier family 19 member 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/42311/slc19a1