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

Summary

Official Symbol: Slc46a1provided by MGI
Official Full Name: solute carrier family 46, member 1provided by MGI
Primary source: MGI:MGI:1098733
See related: Ensembl:ENSMUSG00000020829 AllianceGenome:MGI:1098733
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: HCP1; Pcft; D11Ertd18e; 1110002C08Rik
Summary: Enables heme transmembrane transporter activity. Involved in heme transport. Located in apical plasma membrane and cytoplasm. Is expressed in adrenal gland; metanephros; spinal cord; and testis. Human ortholog(s) of this gene implicated in hereditary folate malabsorption. Orthologous to human SLC46A1 (solute carrier family 46 member 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in duodenum adult (RPKM 274.9), small intestine adult (RPKM 108.1) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B5; 11 46.74 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (78356527..78362771)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (78465701..78471945)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of SLC46A1 decreases tumor iron content in hepatocellular carcinoma.
Title: Loss of SLC46A1 decreases tumor iron content in hepatocellular carcinoma.
SLC46A1 contributes to hepatic iron metabolism by importing heme in hepatocytes.
Title: SLC46A1 contributes to hepatic iron metabolism by importing heme in hepatocytes.
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.

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Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (3) 1 citation

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

NoName (e-PCR)
- UniSTS:548590

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables folic acid binding	IEA Inferred from Electronic Annotation more info
enables folic acid transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables folic acid:proton symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables folic acid:proton symporter activity	ISO Inferred from Sequence Orthology more info
enables heme transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables methotrexate transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables proton transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables symporter activity	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in folate import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in folate import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in folate transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in folic acid transport	ISO Inferred from Sequence Orthology more info
involved_in heme transport	IDA Inferred from Direct Assay more info	PubMed
involved_in proton transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in brush border membrane	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: proton-coupled folate transporter

Names: 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

See identical proteins and their annotated locations for NP_081016.2

Status: VALIDATED

Source sequence(s)

AK003278, AL591177, BE984585, CX219335

Consensus CDS

CCDS25104.1

UniProtKB/Swiss-Prot

Q571I8, Q5SYG0, Q6PEM8, Q8R1H7, Q9D1P1

Related

ENSMUSP00000001126.4, ENSMUST00000001126.4

Conserved Domains (2) summary

cd06174
Location:73 → 443

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

MFS_1; Major Facilitator Superfamily