Mfsd1 MGI Mouse Gene Detail - MGI:1914118 - major facilitator superfamily domain containing 1

Symbol

Mfsd1
Name

major facilitator superfamily domain containing 1
Synonyms

1200003O06Rik

Feature Type

protein coding gene
IDs

MGI:1914118
NCBI Gene: 66868
Alliance

genome feature page
Transcription Start Sites

5 TSS

Sequence Map

Chr3:67490101-67511564 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 31.07 cM, cytoband E2
Mapping Data

2 experiments

SNPs within 2kb

928 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1914118	protein coding gene	Chr3:67490074-67511570 (+)
129S1/SvImJ	ENSMUSG00200001100	protein coding gene	Chr3:64245038-64266535 (+)
A/J	ENSMUSG00195026281	protein coding gene	Chr3:64359212-64380709 (+)
AKR/J	ENSMUSG00220024147	protein coding gene	Chr3:64394622-64416118 (+)
BALB/cJ	ENSMUSG00180008163	protein coding gene	Chr3:64400562-64429167 (+)
C3H/HeJ	ENSMUSG00175003351	protein coding gene	Chr3:64266888-64288384 (+)
C57BL/6NJ	ENSMUSG00215006060	protein coding gene	Chr3:64705510-64727006 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025055	protein coding gene	Chr3:61097878-61119501 (+)
CAST/EiJ	ENSTCUG00005021742	protein coding gene	Chr3:63890750-63912018 (+)
CBA/J	ENSMUSG00210001812	protein coding gene	Chr3:64349336-64370832 (+)
DBA/2J	ENSMUSG00185014497	protein coding gene	Chr3:64511123-64532619 (+)
FVB/NJ	ENSMUSG00205009051	protein coding gene	Chr3:63416184-63444788 (+)
JF1/MsJ	ENSUMUG00000000845	protein coding gene	Chr3:64121453-64143723 (+)
LP/J	ENSMUSG00230001797	protein coding gene	Chr3:66527655-66549151 (+)
NOD/ShiLtJ	ENSMUSG00190003023	protein coding gene	Chr3:64801256-64828599 (+)
NZO/HlLtJ	ENSMUSG00225001425	protein coding gene	Chr3:69245395-69266859 (+)
PWK/PhJ	ENSLUMG00010014660	protein coding gene	Chr3:64179079-64200696 (+)
SPRET/EiJ	ENSMSPG00010007361	protein coding gene	Chr3:64676310-64697928 (+)
WSB/EiJ	ENSIUOG00005015615	protein coding gene	Chr3:64725950-64756026 (+)

Human Ortholog

MFSD1, major facilitator superfamily domain containing 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MFSD1, major facilitator superfamily domain containing 1
Synonyms

Minerva, SLC72A1, SMAP4
Links

HGNC:25874

NCBI Gene ID: 64747

UniProt: Q9H3U5
Chr Location

3q25.32; chr3:158732198-158829719 (+) GRCh38

MGI Vertebrate Homology

Mfsd1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: MFSD1
Gene Tree

Mfsd1

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References

1 with disease annotations

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Phenotype Summary

30 phenotypes from 3 alleles in 2 genetic backgrounds
12 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

7
Chemically induced (other)

1
Endonuclease-mediated

1
Radiation induced

1
Targeted

4
Genomic Mutations

2 involving Mfsd1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

23 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit severe liver disease, with loss of liver sinusoid endothelial cells, liver fibrosis and splenomegaly. Older mice show an increase in liver tumor incidence.

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All GO Annotations

20
GO References

10

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

622
Tissues

16
cDNA Data

15
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase mfsd1

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All Sequences

50
RefSeq

2
UniProt

2
CCDS

CCDS38450.1

Ensembl

ENSMUSG00000027775 (Evidence)
NCBI Gene

66868

			Length	Strain/Species	Flank
genomic	66868	NCBI Gene Model \| MGI Sequence Detail	21464	C57BL/6J	± kb
transcript	NM_025813	RefSeq \| MGI Sequence Detail	2978	C57BL/6
polypeptide	Q9DC37	UniProt \| EBI \| MGI Sequence Detail	464	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000032031 lysosomal dipeptide transporter MFSD1

(term hierarchy)
PDB

8R8Q
InterPro Domains

IPR052187 Lysosomal dipeptide transporter MFSD1

IPR011701 Major facilitator superfamily

IPR020846 Major facilitator superfamily domain

IPR036259 MFS transporter superfamily

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All nucleic 17

cDNA 16

Other 1

Microarray probesets 6

Summaries

All 43

Developmental Gene Expression 2

Diseases 1

Gene Ontology 10

Phenotypes 12
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:347323 Boytsov D, et al., Orphan lysosomal solute carrier MFSD1 facilitates highly selective dipeptide transport. Proc Natl Acad Sci U S A. 2024 Mar 26;121(13):e2319686121

TSS for Mfsd1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr29445	Chr3:67490059-67490062 (+)	-40 bp
Tssr29446	Chr3:67490070-67490101 (+)	-15 bp
Tssr29447	Chr3:67490103-67490149 (+)	25 bp
Tssr29448	Chr3:67490211-67490231 (+)	120 bp
Tssr29449	Chr3:67510537-67510549 (+)	20,442 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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