Slc48a1 solute carrier family 48 (heme transporter), member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc48a1provided by MGI
Official Full Name: solute carrier family 48 (heme transporter), member 1provided by MGI
Primary source: MGI:MGI:1914989
See related: Ensembl:ENSMUSG00000081534 AllianceGenome:MGI:1914989
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: 4930570C03Rik
Summary: Enables heme transmembrane transporter activity. Involved in several processes, including heme transport; localization of cell; and phagocytosis. Located in endolysosome. Is active in phagolysosome membrane. Orthologous to human SLC48A1 (solute carrier family 48 member 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 103.6), subcutaneous fat pad adult (RPKM 82.1) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 F1; 15 53.78 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (97682246..97690573)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (97784365..97792692)

Chromosome 15 - NC_000081.7 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 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?

These results reveal HRG1 as the long-sought heme transporter for heme-iron recycling in macrophages and suggest that genetic variations in HRG1 could be modifiers of human iron metabolism.
Title: HRG1 is essential for heme transport from the phagolysosome of macrophages during erythrophagocytosis.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (3) 1 citation
Gene trapped (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables heme binding	IBA Inferred from Biological aspect of Ancestor more info
enables heme binding	IEA Inferred from Electronic Annotation more info
enables heme binding	ISO Inferred from Sequence Orthology more info
enables heme transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables heme transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables heme transmembrane transporter activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heme export	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heme export from vacuole to cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heme metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heme transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in heme transport	ISO Inferred from Sequence Orthology more info
involved_in localization of cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosomal transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phagocytosis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endolysosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	IEA Inferred from Electronic Annotation more info
located_in endosome membrane	ISO Inferred from Sequence Orthology more info
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
is_active_in phagolysosome membrane	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: heme transporter HRG1

Names: heme-responsive gene 1 protein homolog; solute carrier family 48 member 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.