Slc46a1 solute carrier family 46, member 1 [Mus musculus (house mouse)] - Gene

Summary

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Official Symbol: Slc46a1provided by MGI
Official Full Name: solute carrier family 46, member 1provided by MGI
Primary source: MGI:1098733
Locus tag: RP23-399H5.1
See related: Ensembl:ENSMUSG00000020829; Vega:OTTMUSG00000000134
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: HCP1; Pcft; D11Ertd18e; 1110002C08Rik

Genomic context

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Location :: 11 B5; 11 46.74 cM

Sequence :: Chromosome: 11; NC_000077.6 (78465701..78471945)

See Slc46a1 in Epigenomics, MapViewer

Chromosome 11 - NC_000077.6 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Functional regulation of P-glycoprotein at the blood-brain barrier in proton-coupled folate transporter (PCFT) mutant mice.
Title: Functional regulation of P-glycoprotein at the blood-brain barrier in proton-coupled folate transporter (PCFT) mutant mice.
expressed in placenta at highest level during early development
Title: Spatial and temporal expression of folate-related transporters and metabolic enzymes during mouse placental development.
Hemochromatosis is associated not only with excessive accumulation of free iron in the retina and retinal pigment epithelium but also with excessive accumulation of heme.
Title: Polarized distribution of heme transporters in retinal pigment epithelium and their regulation in the iron-overload disease hemochromatosis.
In vivo folate uptake experiments demonstrated a systemic folate deficiency caused by disruption of PCFT-mediated intestinal folate uptake, thus confirming in vivo a critical role of the PCFT protein in intestinal folate transport and erythropoiesis.
Title: A mouse model of hereditary folate malabsorption: deletion of the PCFT gene leads to systemic folate deficiency.
Intestinal folate uptake process undergoes differentiation-dependent regulation and that this regulation is mediated via changes in the level of expression of both the RFC and PCFT.
Title: Differentiation-dependent regulation of the intestinal folate uptake process: studies with Caco-2 cells and native mouse intestine.
Slc46a1/PCFT plays critical role in intestinal folate absorption.
Title: Rodent intestinal folate transporters (SLC46A1): secondary structure, functional properties, and response to dietary folate restriction.
heme carrier protein 1(HCP 1)is the long-sought intestinal heme transporter and was iron regulated and localized to the brush-border membrane of duodenal enterocytes in iron deficiency. Its mRNA was expressed in duodenum and regulated by hypoxia
Title: Identification of an intestinal heme transporter.

Submit: New GeneRIF Correction

Alleles

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Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (Reporter) (1) 1 citation

Pathways from BioSystems

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Iron uptake and transport, organism-specific biosystem (from REACTOME)
Iron uptake and transport, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Metabolism of folate and pterines, organism-specific biosystem (from REACTOME)
Metabolism of folate and pterines, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
Metabolism of vitamins and cofactors, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Mineral absorption, organism-specific biosystem (from KEGG)
Mineral absorption, organism-specific biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
Mineral absorption, conserved biosystem (from KEGG)
Mineral absorption, conserved biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
Transmembrane transport of small molecules, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Vitamin digestion and absorption, organism-specific biosystem (from KEGG)
Vitamin digestion and absorption, organism-specific biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...
Vitamin digestion and absorption, conserved biosystem (from KEGG)
Vitamin digestion and absorption, conserved biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...

General gene information

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Markers

D11Bhm154 (e-PCR), detects polymorphism
- UniSTS:141591

D11Bhm155 (e-PCR), detects polymorphism
- UniSTS:141592

Slc46a1 (e-PCR), detects polymorphism
- UniSTS:547118

RH125975 (e-PCR)
- UniSTS:162687

D11Seg28 (e-PCR), detects polymorphism
- UniSTS:141802

D11Seg30 (e-PCR), detects polymorphism
- UniSTS:141805

Homology

Homologs of the Slc46a1 gene: The Slc46a1 gene is conserved in human, Rhesus monkey, dog, cow, rat, chicken, and zebrafish.
Map Viewer (Human, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
folic acid binding	IEA Inferred from Electronic Annotation more info
folic acid transporter activity	ISO Inferred from Sequence Orthology more info
heme transporter activity	IDA Inferred from Direct Assay more info	PubMed
transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
folic acid transport	ISO Inferred from Sequence Orthology more info
heme transport	IDA Inferred from Direct Assay more info	PubMed
transmembrane transport	IEA Inferred from Electronic Annotation more info
transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
apical plasma membrane	ISO Inferred from Sequence Orthology more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: proton-coupled folate transporter

Names: proton-coupled folate transporter; PCFT/HCP1; heme carrier protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_026740.2 → NP_081016.2 proton-coupled folate transporter

Status: VALIDATED

Source sequence(s)

AK003278, AL591177, BE984585, CX219335

Consensus CDS

CCDS25104.1

UniProtKB/Swiss-Prot

Q6PEM8

Related

ENSMUSP00000001126, OTTMUSP00000000186, ENSMUST00000001126, OTTMUST00000000430

Conserved Domains (2) summary

cd06174
Location:73 – 414
Blast Score: 134

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

pfam07690
Location:94 – 407
Blast Score: 111

MFS_1; Major Facilitator Superfamily

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 103

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p1 C57BL/6J

Genomic

NC_000077.6 Reference GRCm38.p1 C57BL/6J

Range

78465701..78471945

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate Mm_Celera

Genomic

AC_000033.1 Alternate Mm_Celera

Range

88097777..88104021

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein	Strain
Heading	Accession and Version	Protein	Strain
genomic	AAHY01094598.1 (142313..148557)	None
genomic	AC002324.1 (73927..80138)	None
genomic	AL591177.14 (4833..11077)	None
genomic	CH466556.1	EDL15572.1	mixed
		EDL15573.1	mixed
mRNA	AK003278.1	BAB22685.1	C57BL/6J
mRNA	AK170505.1	BAE41843.1	NOD
mRNA	AK220201.1	BAD90126.1
mRNA	BC024522.1	AAH24522.1	FVB/N
mRNA	BC057976.1	AAH57976.1	FVB/N
mRNA	BE984585.1	None	C57BL/6J
mRNA	CX219335.1	None	C57BL/6