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

gene 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

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1914118	protein coding gene	Chr3:67490074-67511570 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0027283	protein coding gene	Chr3:66741429-66764224 (+)
A/J	MGP_AJ_G0027245	protein coding gene	Chr3:64776576-64797927 (+)
AKR/J	MGP_AKRJ_G0027213	protein coding gene	Chr3:66172215-66195095 (+)
BALB/cJ	MGP_BALBcJ_G0027256	protein coding gene	Chr3:64650580-64673342 (+)
C3H/HeJ	MGP_C3HHeJ_G0027000	protein coding gene	Chr3:66411921-66433508 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027702	protein coding gene	Chr3:69241633-69268017 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025055	protein coding gene	Chr3:61097878-61119501 (+)
CAST/EiJ	MGP_CASTEiJ_G0026447	protein coding gene	Chr3:66361021-66383557 (+)
CBA/J	MGP_CBAJ_G0026975	protein coding gene	Chr3:71388953-71413950 (+)
DBA/2J	MGP_DBA2J_G0027111	protein coding gene	Chr3:64290038-64311517 (+)
FVB/NJ	MGP_FVBNJ_G0027079	protein coding gene	Chr3:62917648-62939205 (+)
LP/J	MGP_LPJ_G0027219	protein coding gene	Chr3:67670333-67691554 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027098	protein coding gene	Chr3:76044198-76072921 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027760	protein coding gene	Chr3:66049765-66070984 (+)
PWK/PhJ	MGP_PWKPhJ_G0026181	protein coding gene	Chr3:64022741-64044549 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025997	protein coding gene	Chr3:65156783-65187692 (+)
WSB/EiJ	MGP_WSBEiJ_G0026525	protein coding gene	Chr3:66166497-66187508 (+)

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, SMAP4
Links

HGNC:25874

NCBI Gene ID: 64747

neXtProt AC: NX_Q9H3U5

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
11 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

13
GO References

7

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

731
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

49
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 major facilitator superfamily domain-containing protein 1

(term hierarchy)
PDB

8R8Q
InterPro Domains

IPR011701 Major facilitator superfamily

IPR020846 Major facilitator superfamily domain

IPR052187 Major facilitator superfamily domain-containing protein 1

IPR036259 MFS transporter superfamily

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All nucleic 17

cDNA 16

Other 1

Microarray probesets 6

Summaries

All 36

Developmental Gene Expression 2

Diseases 1

Gene Ontology 7

Phenotypes 11
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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24