Slc19a1 MGI Mouse Gene Detail - MGI:103182 - solute carrier family 19 (folate transporter), member 1

Symbol

Slc19a1
Name

solute carrier family 19 (folate transporter), member 1
Synonyms

reduced folate carrier, RFC-1, RFC1

Feature Type

protein coding gene
IDs

MGI:103182
NCBI Gene: 20509
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr10:76868103-76886266 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 39.72 cM
Mapping Data

5 experiments

SNPs within 2kb

550 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_103182	protein coding gene	Chr10:76868075-76896836 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017392	protein coding gene	Chr10:77305590-77334351 (+)
A/J	MGP_AJ_G0017369	protein coding gene	Chr10:74639035-74667791 (+)
AKR/J	MGP_AKRJ_G0017330	protein coding gene	Chr10:76642545-76671304 (+)
BALB/cJ	MGP_BALBcJ_G0017329	protein coding gene	Chr10:74831738-74860495 (+)
C3H/HeJ	MGP_C3HHeJ_G0017153	protein coding gene	Chr10:76716965-76748717 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017787	protein coding gene	Chr10:80016119-80045232 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015477	protein coding gene	Chr10:71064542-71093927 (+)
CAST/EiJ	MGP_CASTEiJ_G0016723	protein coding gene	Chr10:77059157-77087982 (+)
CBA/J	MGP_CBAJ_G0017125	protein coding gene	Chr10:83146942-83175697 (+)
DBA/2J	MGP_DBA2J_G0017230	protein coding gene	Chr10:73927680-73956437 (+)
FVB/NJ	MGP_FVBNJ_G0017222	protein coding gene	Chr10:73086493-73115254 (+)
LP/J	MGP_LPJ_G0017303	protein coding gene	Chr10:77784266-77813948 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017251	protein coding gene	Chr10:85191004-85219765 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017826	protein coding gene	Chr10:76704138-76732899 (+)
PWK/PhJ	MGP_PWKPhJ_G0016507	protein coding gene	Chr10:73782710-73812209 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016290	protein coding gene	Chr10:75941247-75976314 (+)
WSB/EiJ	MGP_WSBEiJ_G0016786	protein coding gene	Chr10:76681234-76709997 (+)

Human Ortholog

SLC19A1, solute carrier family 19 member 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SLC19A1, solute carrier family 19 member 1
Synonyms

CHMD, FOLT, hRFC, hSLC19A1, IFC-1, IFC1, IMD114, MEGAF, REFC, RFC, RFC1, RFT-1
Links

HGNC:10937

NCBI Gene ID: 6573

neXtProt AC: NX_P41440

UniProt: P41440
Chr Location

21q22.3; chr21:45493572-45573365 (-) GRCh38

MGI Vertebrate Homology

Slc19a1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SLC19A1
Protein SuperFamily

Folate_carrier
Gene Tree

Slc19a1

Diseases

6 with human SLC19A1 associations

				Human Disease	Mouse Models
				abdominal aortic aneurysm IDs abdominal aortic aneurysm DOID:7693 EFO:0004214 MESH:D017544 NCI:C27000 OMIM:100070 OMIM:609782 OMIM:611891 OMIM:614375 UMLS_CUI:C0162871
				cleft lip IDs cleft lip DOID:9296 DOID:9333 EFO:0003959 ICD10CM:Q36 ICD9CM_2006:749.11 ICD9CM:749.1 ICD9CM:749.10 ICD9CM:749.11 MESH:D002971 NCI:C87175 UMLS_CUI:C0008924 UMLS_CUI:C0158651
				dextro-looped transposition of the great arteries IDs dextro-looped transposition of the great arteries DOID:0060770 ICD10CM:Q20.3 OMIM:608808 ORDO:860
				hematologic cancer IDs hematologic cancer DOID:2531 DOID:1034 DOID:2532 MESH:D019337 NCI:C27134 UMLS_CUI:C0376544
				malaria IDs malaria DOID:12365 DOID:12552 EFO:0001068 ICD10CM:B54 ICD9CM:084 ICD9CM:084.6 MESH:D008288 NCI:C34797 ORDO:673 UMLS_CUI:C0024530
				primary immunodeficiency disease IDs primary immunodeficiency disease DOID:612 ICD10CM:D84.9 ICD9CM:279.3 KEGG:05340 MESH:D007153 NCI:C39725 OMIM:242850 OMIM:PS300755 UMLS_CUI:C0021051

Click on a disease name to see all genes associated with that disease.

References

2 with disease annotations

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Phenotype Summary

21 phenotypes from 2 alleles in 2 genetic backgrounds
2 images
43 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

19
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

6
Targeted

10
Genomic Mutations

4 involving Slc19a1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

31 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null embryos die due to abnormalities of hematopoietic organs. Mutant mice may be partially rescued with maternal folic acid supplementation, but these mice still present with hematopoietic organ defects and show impaired development of urogenital structures.

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All GO Annotations

49
GO References

11

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

935
Tissues

189
cDNA Data

60
Literature Summary

12

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase slc19a1

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All Sequences

111
RefSeq

43
UniProt

9
CCDS

CCDS35947.1

Ensembl

ENSMUSG00000001436 (Evidence)
NCBI Gene

20509

			Length	Strain/Species	Flank
genomic	20509	NCBI Gene Model \| MGI Sequence Detail	18164	C57BL/6J	± kb
transcript	NM_001428820	RefSeq \| MGI Sequence Detail	2410	C57BL/6
polypeptide	P41438	UniProt \| EBI \| MGI Sequence Detail	512	Not Applicable

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UniProt

9 Sequences
Protein Ontology

PR:000014969 reduced folate transporter

(term hierarchy)
InterPro Domains

IPR036259 MFS transporter superfamily

IPR002666 Reduced folate carrier

IPR028339 Reduced folate transporter SLC19A1
GlyGen

P41438 1 site, 1 N-linked glycan (1 site)

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All nucleic 79

Genomic 15

cDNA 61

Primer pair 3

Microarray probesets 6

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MGD-MRK-24050, MGI:2143577

Summaries

All 104

Developmental Gene Expression 12

Diseases 2

Gene Ontology 11

Phenotypes 43
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:351211 Wu Y, et al., Cathepsin B abundance, activity and microglial localisation in Alzheimer's disease-Down syndrome and early onset Alzheimer's disease; the role of elevated cystatin B. Acta Neuropathol Commun. 2023 Aug 14;11(1):132

TSS for Slc19a1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr94203	Chr10:76868064-76868089 (+)	-26 bp
Tssr94204	Chr10:76868092-76868111 (+)	-1 bp
Tssr94205	Chr10:76868545-76868581 (+)	460 bp
Tssr94206	Chr10:76869074-76869092 (+)	980 bp
Tssr94207	Chr10:76869094-76869118 (+)	1,003 bp
Tssr94208	Chr10:76869124-76869135 (+)	1,027 bp
Tssr94209	Chr10:76869138-76869149 (+)	1,041 bp
Tssr94210	Chr10:76871663-76871666 (+)	3,562 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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