Mfsd8 major facilitator superfamily domain containing 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mfsd8provided by MGI
Official Full Name: major facilitator superfamily domain containing 8provided by MGI
Primary source: MGI:MGI:1919425
See related: Ensembl:ENSMUSG00000025759 AllianceGenome:MGI:1919425
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: Cln7; 2810423E13Rik
Summary: Predicted to enable transmembrane transporter activity. Acts upstream of or within several processes, including TORC1 signaling; autophagosome maturation; and regulation of cellular catabolic process. Located in lysosome and membrane. Is expressed in several structures, including brain; cardiovascular system; genitourinary system; gut; and respiratory system. Used to study neuronal ceroid lipofuscinosis 7. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis 7. Orthologous to human MFSD8 (major facilitator superfamily domain containing 8). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in subcutaneous fat pad adult (RPKM 4.3), CNS E18 (RPKM 4.2) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 B; 3 19.55 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (40772500..40801322, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (40818065..40846880, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.
Title: Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.
Probable role for major facilitator superfamily domain containing 6 (MFSD6) in the brain during variable energy consumption.
Title: Probable role for major facilitator superfamily domain containing 6 (MFSD6) in the brain during variable energy consumption.
Our data demonstrate for the first time that the putative lysosomal transporter CLN7 is relevant for lysosome motility and plays an important role for neuronal cell survival under conditions of starvation.
Title: A newly generated neuronal cell model of CLN7 disease reveals aberrant lysosome motility and impaired cell survival.
Quantification revealed that the amounts of 12 different soluble lysosomal proteins were significantly reduced in Cln7 ko MEFs compared with wild-type controls. One of the most significantly depleted lysosomal proteins was Cln5 protein that underlies another distinct neuronal ceroid lipofuscinosis disorder
Title: Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation.
We have disrupted the Cln7/Mfsd8 gene in mice by targeted deletion of exon 2 generating a novel knockout (KO) mouse model for CLN7 disease, which recapitulates key features of human CLN7 disease pathology.
Title: Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Gene trapped (1)
Targeted (4) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables chloride channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables chloride channel activity	ISO Inferred from Sequence Orthology more info
enables fluoride channel activity	ISO Inferred from Sequence Orthology more info
enables iodide transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables molecular_function	ND No biological Data available more info
enables transmembrane transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within TORC1 signaling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within astrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within autophagosome maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chloride transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gliogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glycolipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glycoprotein metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inclusion body assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lysosomal protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lysosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within maintenance of location	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within microglia differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of lysosomal protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in endosome	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
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: major facilitator superfamily domain-containing protein 8

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_028140.6 → NP_082416.2 major facilitator superfamily domain-containing protein 8

See identical proteins and their annotated locations for NP_082416.2

Status: VALIDATED

Source sequence(s)

AC160757

Consensus CDS

CCDS17329.1

UniProtKB/Swiss-Prot

Q8BH31, Q91VS1, Q9CZ06

Related

ENSMUSP00000026859.6, ENSMUST00000026859.11

Conserved Domains (2) summary

cd06174
Location:40 → 504

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:43 → 470

MFS_1; Major Facilitator Superfamily

RNA

NR_190651.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC160757
NR_190652.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC160757

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

40772500..40801322 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036163349.1 → XP_036019242.1 major facilitator superfamily domain-containing protein 8 isoform X1

Conserved Domains (1) summary

cd17326
Location:1 → 373

MFS_MFSD8; Major facilitator superfamily domain-containing protein 8