Details for: SLC19A1

Gene ID: 6573

Symbol: SLC19A1

Ensembl ID: ENSG00000173638

Description: solute carrier family 19 member 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 52.1392
    Cell Significance Index: -8.1100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 27.9921
    Cell Significance Index: -7.1000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 7.1373
    Cell Significance Index: -8.8000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 3.7693
    Cell Significance Index: 100.6500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 3.5724
    Cell Significance Index: -9.5700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.2820
    Cell Significance Index: -9.0100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.2344
    Cell Significance Index: 122.1100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9035
    Cell Significance Index: 815.8000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6898
    Cell Significance Index: 75.0300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6519
    Cell Significance Index: 106.0300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6315
    Cell Significance Index: 37.9100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5232
    Cell Significance Index: 103.8300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.3887
    Cell Significance Index: 9.9300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3622
    Cell Significance Index: 25.0500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2247
    Cell Significance Index: 45.0700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.1970
    Cell Significance Index: 4.2100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1861
    Cell Significance Index: 35.4200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1830
    Cell Significance Index: 10.2700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1819
    Cell Significance Index: 5.2400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.1818
    Cell Significance Index: 3.9800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.1781
    Cell Significance Index: 4.7700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1746
    Cell Significance Index: 62.6100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1608
    Cell Significance Index: 4.3100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1574
    Cell Significance Index: 3.4100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1337
    Cell Significance Index: 8.2200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1313
    Cell Significance Index: 6.8200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1272
    Cell Significance Index: 3.1800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.1198
    Cell Significance Index: 1.6400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1124
    Cell Significance Index: 71.3900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0962
    Cell Significance Index: 4.3600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0897
    Cell Significance Index: 48.9700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0831
    Cell Significance Index: 5.3600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0669
    Cell Significance Index: 1.7600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0562
    Cell Significance Index: 10.1300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0538
    Cell Significance Index: 3.6200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0358
    Cell Significance Index: 24.7700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0348
    Cell Significance Index: 4.7800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0213
    Cell Significance Index: 9.4100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0175
    Cell Significance Index: 0.4900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0135
    Cell Significance Index: 25.4600
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0116
    Cell Significance Index: 0.1200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0061
    Cell Significance Index: 0.1300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0060
    Cell Significance Index: 0.1000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0051
    Cell Significance Index: 0.1800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0014
    Cell Significance Index: 2.1800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0001
    Cell Significance Index: -0.2100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0034
    Cell Significance Index: -2.5800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0045
    Cell Significance Index: -2.0200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0057
    Cell Significance Index: -7.7600
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.0062
    Cell Significance Index: -0.0800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0073
    Cell Significance Index: -0.9000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0108
    Cell Significance Index: -7.9200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0111
    Cell Significance Index: -1.4300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0132
    Cell Significance Index: -9.7700
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.0132
    Cell Significance Index: -0.1600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0146
    Cell Significance Index: -0.3500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0166
    Cell Significance Index: -9.3500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0169
    Cell Significance Index: -0.5400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0230
    Cell Significance Index: -3.9300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0233
    Cell Significance Index: -6.7000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0235
    Cell Significance Index: -3.4200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0281
    Cell Significance Index: -3.6000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0311
    Cell Significance Index: -3.1800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0325
    Cell Significance Index: -3.7900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0354
    Cell Significance Index: -4.1800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0384
    Cell Significance Index: -4.4000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0403
    Cell Significance Index: -1.8800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0489
    Cell Significance Index: -0.7000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0493
    Cell Significance Index: -10.3900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0496
    Cell Significance Index: -3.8100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0514
    Cell Significance Index: -3.2400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0537
    Cell Significance Index: -0.9200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0566
    Cell Significance Index: -2.6600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0607
    Cell Significance Index: -0.6600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0608
    Cell Significance Index: -4.5300
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.0650
    Cell Significance Index: -0.8100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0655
    Cell Significance Index: -4.6300
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.0736
    Cell Significance Index: -1.3600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0736
    Cell Significance Index: -1.5400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0769
    Cell Significance Index: -8.0100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0867
    Cell Significance Index: -4.5500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0882
    Cell Significance Index: -5.4100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0893
    Cell Significance Index: -2.4300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0909
    Cell Significance Index: -3.1600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0957
    Cell Significance Index: -2.7300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0967
    Cell Significance Index: -2.8400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0992
    Cell Significance Index: -4.3900
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.1018
    Cell Significance Index: -0.8400
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.1095
    Cell Significance Index: -1.0400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1174
    Cell Significance Index: -9.3000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1228
    Cell Significance Index: -4.6500
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.1328
    Cell Significance Index: -1.9000
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.1382
    Cell Significance Index: -1.4400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1512
    Cell Significance Index: -2.9900
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.1530
    Cell Significance Index: -1.3000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1588
    Cell Significance Index: -3.3700
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.1664
    Cell Significance Index: -2.1000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1686
    Cell Significance Index: -8.7800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1759
    Cell Significance Index: -2.6500
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1775
    Cell Significance Index: -2.6200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Folate Transporter**: SLC19A1 is a folate transporter protein that mediates the uptake and transport of folate across cell membranes. 2. **Transmembrane Transporter**: The SLC19A1 protein is a transmembrane transporter, with 10 transmembrane domains, which allows it to transport folate across the plasma membrane. 3. **Antiporter Activity**: SLC19A1 exhibits antiporter activity, which enables it to exchange folate for other molecules, such as methotrexate, across the plasma membrane. 4. **Expression in Various Cell Types**: SLC19A1 is expressed in a wide range of cell types, including those in the nervous system, placenta, kidney, and immune cells. **Pathways and Functions** 1. **Folate Metabolism**: SLC19A1 plays a crucial role in folate metabolism, including the uptake and transport of folate across cell membranes. 2. **DNA Synthesis and Repair**: Folate is essential for DNA synthesis and repair, and SLC19A1 helps maintain folate homeostasis, which is critical for these processes. 3. **Homocysteine Regulation**: SLC19A1 helps regulate homocysteine levels by transporting folate, which competes with homocysteine for binding to the folate receptor. 4. **Methotrexate Transport**: SLC19A1 also transports methotrexate, a chemotherapeutic agent, across cell membranes, which is essential for its efficacy in treating certain cancers. 5. **Xenobiotic Transport**: SLC19A1 exhibits xenobiotic transporter activity, allowing it to transport a wide range of compounds, including drugs and toxins, across cell membranes. **Clinical Significance** 1. **Folate Deficiency**: SLC19A1 deficiency or dysfunction can lead to folate deficiency, which is associated with various clinical manifestations, including megaloblastic anemia, birth defects, and neurological disorders. 2. **Methotrexate Toxicity**: SLC19A1-mediated transport of methotrexate can contribute to its toxicity, particularly in patients with folate deficiency or impaired folate metabolism. 3. **Cancer Therapy**: SLC19A1 plays a crucial role in the transport of methotrexate, a chemotherapeutic agent, and its dysregulation can impact the efficacy of cancer therapy. 4. **Neurological Disorders**: SLC19A1 has been implicated in the pathogenesis of various neurological disorders, including Alzheimer's disease, schizophrenia, and bipolar disorder, where folate metabolism is disrupted. In conclusion, the SLC19A1 gene encodes for a critical folate transporter protein that plays a vital role in maintaining folate homeostasis, DNA synthesis, and repair, as well as in the regulation of homocysteine levels. Its dysregulation can lead to various clinical manifestations, including folate deficiency, methotrexate toxicity, and neurological disorders.

Genular Protein ID: 3337398739

Symbol: S19A1_HUMAN

Name: N/A

UniProtKB Accession Codes:

P41440 B2R7U8 B7Z8C3 E9PFY4 O00553 O60227 Q13026 Q9BTX8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CTD 1 ChEBI 6 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 5 DrugCentral 1 EMBL 16 EMDB 10 Ensembl 4 ExpressionAtlas 1 GO 24 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 13 PDBsum 13 PIR 2 PIRSF 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 1 RefSeq 10 Rhea 6 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7826387

Title: Molecular cloning of the human placental folate transporter.

PubMed ID: 7826387

DOI: 10.1006/bbrc.1995.1096

PubMed ID: 7615551

Title: Isolation of human cDNAs that restore methotrexate sensitivity and reduced folate carrier activity in methotrexate transport-defective Chinese hamster ovary cells.

PubMed ID: 7615551

DOI: 10.1074/jbc.270.29.17468

PubMed ID: 7641195

Title: Isolation of a gene encoding a human reduced folate carrier (RFC1) and analysis of its expression in transport-deficient, methotrexate-resistant human breast cancer cells.

PubMed ID: 7641195

PubMed ID: 7852378

Title: Isolation of a human cDNA that complements a mutant hamster cell defective in methotrexate uptake.

PubMed ID: 7852378

DOI: 10.1074/jbc.270.7.2987

PubMed ID: 9602167

Title: Structural analysis of the human RFC-1 gene encoding a folate transporter reveals multiple promoters and alternatively spliced transcripts with 5' end heterogeneity.

PubMed ID: 9602167

DOI: 10.1016/s0378-1119(98)00123-1

PubMed ID: 9041240

Title: Human intestinal folate transport: cloning, expression, and distribution of complementary RNA.

PubMed ID: 9041240

DOI: 10.1053/gast.1997.v112.pm9041240

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 10830953

Title: The DNA sequence of human chromosome 21.

PubMed ID: 10830953

DOI: 10.1038/35012518

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9767079

Title: Effects of the loss of capacity for N-glycosylation on the transport activity and cellular localization of the human reduced folate carrier.

PubMed ID: 9767079

DOI: 10.1016/s0005-2736(98)00118-7

PubMed ID: 10347183

Title: Topological and functional analysis of the human reduced folate carrier by hemagglutinin epitope insertion.

PubMed ID: 10347183

DOI: 10.1074/jbc.274.23.16269

PubMed ID: 10787414

Title: Expression and differential polarization of the reduced-folate transporter-1 and the folate receptor alpha in mammalian retinal pigment epithelium.

PubMed ID: 10787414

DOI: 10.1074/jbc.m002328200

PubMed ID: 14609557

Title: Regulation of reduced-folate transporter-1 (RFT-1) by homocysteine and identity of transport systems for homocysteine uptake in retinal pigment epithelial (RPE) cells.

PubMed ID: 14609557

DOI: 10.1016/j.exer.2003.08.013

PubMed ID: 15337749

Title: Restoration of transport activity by co-expression of human reduced folate carrier half-molecules in transport-impaired K562 cells: localization of a substrate binding domain to transmembrane domains 7-12.

PubMed ID: 15337749

DOI: 10.1074/jbc.m408696200

PubMed ID: 16115875

Title: Localization of a substrate binding domain of the human reduced folate carrier to transmembrane domain 11 by radioaffinity labeling and cysteine-substituted accessibility methods.

PubMed ID: 16115875

DOI: 10.1074/jbc.m507295200

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 22554803

Title: Augmentation of reduced folate carrier-mediated folate/antifolate transport through an antiport mechanism with 5-aminoimidazole-4-carboxamide riboside monophosphate.

PubMed ID: 22554803

DOI: 10.1124/mol.112.078642

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 31511694

Title: SLC19A1 transports immunoreactive cyclic dinucleotides.

PubMed ID: 31511694

DOI: 10.1038/s41586-019-1553-0

PubMed ID: 31126740

Title: SLC19A1 is an importer of the immunotransmitter cGAMP.

PubMed ID: 31126740

DOI: 10.1016/j.molcel.2019.05.006

PubMed ID: 32276275

Title: A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia.

PubMed ID: 32276275

DOI: 10.1182/blood.2019003178

PubMed ID: 36745868

Title: Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrier.

PubMed ID: 36745868

DOI: 10.1182/blood.2022017968

PubMed ID: 36517554

Title: Immunodeficiency associated with a novel functionally defective variant of SLC19A1 benefits from folinic acid treatment.

PubMed ID: 36517554

DOI: 10.1038/s41435-022-00191-7

Sequence Information:

  • Length: 591
  • Mass: 64868
  • Checksum: 0437B1615F5517EB
  • Sequence:
    • MVPSSPAVEK QVPVEPGPDP ELRSWRHLVC YLCFYGFMAQ IRPGESFITP YLLGPDKNFT 
REQVTNEITP VLSYSYLAVL VPVFLLTDYL RYTPVLLLQG LSFVSVWLLL LLGHSVAHMQ 
LMELFYSVTM AARIAYSSYI FSLVRPARYQ RVAGYSRAAV LLGVFTSSVL GQLLVTVGRV 
SFSTLNYISL AFLTFSVVLA LFLKRPKRSL FFNRDDRGRC ETSASELERM NPGPGGKLGH 
ALRVACGDSV LARMLRELGD SLRRPQLRLW SLWWVFNSAG YYLVVYYVHI LWNEVDPTTN 
SARVYNGAAD AASTLLGAIT SFAAGFVKIR WARWSKLLIA GVTATQAGLV FLLAHTRHPS 
SIWLCYAAFV LFRGSYQFLV PIATFQIASS LSKELCALVF GVNTFFATIV KTIITFIVSD 
VRGLGLPVRK QFQLYSVYFL ILSIIYFLGA MLDGLRHCQR GHHPRQPPAQ GLRSAAEEKA 
AQALSVQDKG LGGLQPAQSP PLSPEDSLGA VGPASLEQRQ SDPYLAQAPA PQAAEFLSPV 
TTPSPCTLCS AQASGPEAAD ETCPQLAVHP PGVSKLGLQC LPSDGVQNVN Q

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.