SLC19A1 (solute carrier family 19 member 1)

2003-06-01  

Identity

HGNC
SLC19A1
LOCATION
21q22.3
LOCUSID
6573
ALIAS
CHMD,FOLT,IFC-1,IFC1,MEGAF,REFC,RFC,RFC1,RFT-1,hRFC,hSLC19A1

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173638ENST00000311124P41440
ENSG00000173638ENST00000380010P41440
ENSG00000173638ENST00000417954H0Y4T2
ENSG00000173638ENST00000427839C9JKP4
ENSG00000173638ENST00000443742C9J8K6
ENSG00000173638ENST00000485649P41440
ENSG00000173638ENST00000528477E9PIL5
ENSG00000173638ENST00000567670H3BTQ3
ENSG00000173638ENST00000650808P41440

Expression (GTEx)

0
5
10
15
20
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

PathwaySourceExternal ID
Vitamin digestion and absorptionKEGGko04977
Vitamin digestion and absorptionKEGGhsa04977
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Metabolism of folate and pterinesREACTOMER-HSA-196757
Antifolate resistanceKEGGko01523
Antifolate resistanceKEGGhsa01523

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10804imatinibChemicalClinicalAnnotationassociatedPD30237583
PA10810pemetrexedChemicalClinicalAnnotation, VipGeneassociatedPD12571805, 19841321, 24732178
PA128406956fluorouracilChemicalClinicalAnnotationassociatedPD16875718
PA131625240raltitrexedChemicalVipGeneassociated11705857
PA151958383Gastrointestinal Stromal TumorsDiseaseClinicalAnnotationassociatedPD30237583
PA164713176Platinum compoundsChemicalClinicalAnnotationassociatedPD29662106
PA166119041drug-induced liver injuryDiseaseVariantAnnotationassociatedPD17410198
PA166122058mucositisDiseaseVariantAnnotationnot associatedPD
PA166151827adverse eventsDiseaseClinicalAnnotationassociatedPD31099054
PA166153643rs1801131VariantGuidelineAnnotationassociated
PA166153644rs1801133VariantGuidelineAnnotationassociated
PA166154581rs4149081VariantGuidelineAnnotationassociated
PA166154633rs11045879VariantGuidelineAnnotationassociated
PA166155973rs12659VariantVipGeneassociated16875718, 15922487
PA166155986rs1051266VariantVipGeneassociated11461197, 11705857, 11813127, 11857541, 12411325, 15564880, 15964598, 16019224, 16522921, 16962770, 17311260, 17325736, 17891500, 18322994, 19020309, 19706844, 10993718
PA166155988rs1051298VariantVipGeneassociated
PA166155990rs1131596VariantVipGeneassociated17404734
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotationassociatedPKPD15457444, 15564880, 17325736, 18322994, 19827168, 23095111, 24350725, 25074866, 27217051, 31099054
PA443622Carcinoma, Non-Small-Cell LungDiseaseClinicalAnnotationassociatedPD19841321, 24732178, 29662106
PA443685Uterine Cervical NeoplasmsDiseaseClinicalAnnotationassociatedPD16875718
PA443937Drug ToxicityDiseaseVariantAnnotationnot associatedPD17323057
PA444367Heart Defects, CongenitalDiseaseVipGeneassociated16019224
PA444937MesotheliomaDiseaseClinicalAnnotationassociatedPD19841321, 24732178
PA445062NeoplasmsDiseaseClinicalAnnotationassociatedPKPD12411325, 12915598, 16462575, 17180579, 17264302, 17323057, 18458567, 20335220, 21747412, 22838948, 24241962, 24597986, 25303299, 25778468, 27409003, 28525903
PA445451PsoriasisDiseaseVariantAnnotationassociatedPD17410198
PA445850ThrombosisDiseaseVipGeneassociated15964598
PA446108Colorectal NeoplasmsDiseaseClinicalAnnotationassociatedPD
PA446155Precursor Cell Lymphoblastic Leukemia-LymphomaDiseaseClinicalAnnotation, VariantAnnotationambiguousPKPD17323057
PA448803carboplatinChemicalClinicalAnnotationassociatedPD16875718
PA449014cisplatinChemicalClinicalAnnotationassociatedPD16875718
PA450085irinotecanChemicalClinicalAnnotationassociatedPD
PA450198leucovorinChemicalVipGeneassociated16115875
PA450379mercaptopurineChemicalVariantAnnotationnot associatedPD17323057
PA450428methotrexateChemicalClinicalAnnotation, GuidelineAnnotation, Pathway, VariantAnnotation, VipGeneambiguousPKPD10598550, 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 IDYearTitleCitations
386691812024Cryo-EM reveals a nearly complete PCNA loading process and unique features of the human alternative clamp loader CTF18-RFC.0
386691812024Cryo-EM reveals a nearly complete PCNA loading process and unique features of the human alternative clamp loader CTF18-RFC.0
364470562023Genetic aetiology of Down syndrome birth: novel variants of maternal DNMT3B and RFC1 genes increase risk of meiosis II nondisjunction in the oocyte.1
369994052023Correlation between methylation level of the SLC19A1 promoter region and methotrexate metabolism in adult acute lymphoblastic leukemia.0
372017632023Gender-specific association of SLC19A1 and MTHFR genetic polymorphism with oxidative stress biomarkers and plasma folate levels in older adults.0
364470562023Genetic aetiology of Down syndrome birth: novel variants of maternal DNMT3B and RFC1 genes increase risk of meiosis II nondisjunction in the oocyte.1
369994052023Correlation between methylation level of the SLC19A1 promoter region and methotrexate metabolism in adult acute lymphoblastic leukemia.0
372017632023Gender-specific association of SLC19A1 and MTHFR genetic polymorphism with oxidative stress biomarkers and plasma folate levels in older adults.0
359523362022SLC19A1 Genetic Variation Leads to Altered Thiamine Diphosphate Transport: Implications for the Risk of Developing Wernicke-Korsakoff's Syndrome.2
359585552022Hypoxia-Immune-Related Gene SLC19A1 Serves as a Potential Biomarker for Prognosis in Multiple Myeloma.3
360711632022Methotrexate recognition by the human reduced folate carrier SLC19A1.9
362655132022Recognition of cyclic dinucleotides and folates by human SLC19A1.10
359523362022SLC19A1 Genetic Variation Leads to Altered Thiamine Diphosphate Transport: Implications for the Risk of Developing Wernicke-Korsakoff's Syndrome.2
359585552022Hypoxia-Immune-Related Gene SLC19A1 Serves as a Potential Biomarker for Prognosis in Multiple Myeloma.3
360711632022Methotrexate recognition by the human reduced folate carrier SLC19A1.9

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