Mfsd1 major facilitator superfamily domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mfsd1provided by MGI
Official Full Name: major facilitator superfamily domain containing 1provided by MGI
Primary source: MGI:MGI:1914118
See related: Ensembl:ENSMUSG00000027775 AllianceGenome:MGI:1914118
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: 1200003O06Rik
Summary: Enables protein homodimerization activity. Involved in dipeptide transmembrane transport from lysosomal lumen to cytosol; protein localization to lysosome; and protein stabilization. Located in lysosome. Is active in lysosomal membrane. Is expressed in embryo and renal vasculature. Orthologous to human MFSD1 (major facilitator superfamily domain containing 1). [provided by Alliance of Genome Resources, Jan 2025]
Expression: Ubiquitous expression in kidney adult (RPKM 75.5), placenta adult (RPKM 43.9) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 E1; 3 31.07 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (67490101..67511564)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (67582768..67604231)

Chromosome 3 - NC_000069.7 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?

Characterization of the complex of the lysosomal membrane transporter MFSD1 and its accessory subunit GLMP.
Title: Characterization of the complex of the lysosomal membrane transporter MFSD1 and its accessory subunit GLMP.
Mfsd1 knockout mice develop splenomegaly and severe liver disease. Proteomics of isolated lysosomes from Mfsd1 knockout mice revealed GLMP as a critical accessory subunit for MFSD1. MFSD1 and GLMP physically interact. GLMP is essential for the maintenance of normal levels of MFSD1 in lysosomes and vice versa.
Title: The lysosomal transporter MFSD1 is essential for liver homeostasis and critically depends on its accessory subunit GLMP.
Protein expression of MFSD1 is in mouse brain regions is specifically affected by altered nutrient uptake.
Title: The Novel Membrane-Bound Proteins MFSD1 and MFSD3 are Putative SLC Transporters Affected by Altered Nutrient Intake.

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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 (4) 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 dipeptide uniporter activity	ISO Inferred from Sequence Orthology more info
enables dipeptide uniporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in dipeptide transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in dipeptide transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in dipeptide transmembrane transport from lysosomal lumen to cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to lysosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: lysosomal dipeptide transporter MFSD1

Names: major facilitator superfamily domain-containing 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_025813.3 → NP_080089.1 lysosomal dipeptide transporter MFSD1

See identical proteins and their annotated locations for NP_080089.1

Status: VALIDATED

Source sequence(s)

AC135635

Consensus CDS

CCDS38450.1

UniProtKB/Swiss-Prot

Q3UWU0, Q8BVZ3, Q9DC37

Related

ENSMUSP00000029344.9, ENSMUST00000029344.10

Conserved Domains (2) summary

cd06174
Location:45 → 438

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:48 → 402

MFS_1; Major Facilitator Superfamily