Slc2a1 MGI Mouse Gene Detail - MGI:95755 - solute carrier family 2 (facilitated glucose transporter), member 1

Symbol

Slc2a1
Name

solute carrier family 2 (facilitated glucose transporter), member 1
Synonyms

Glut1, Glut-1, M100200, Rgsc200

Feature Type

protein coding gene
IDs

MGI:95755
NCBI Gene: 20525
Alliance

gene page
Transcription Start Sites

20 TSS

Sequence Map

Chr4:118965942-118994527 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4,
Mapping Data

30 experiments

SNPs within 2kb

190 from dbSNP Build 142
Strain Annotations

18
RFLP

6

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_95755	protein coding gene	Chr4:118965908-118995180 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028687	protein coding gene	Chr4:120287583-120317096 (+)
A/J	MGP_AJ_G0028647	protein coding gene	Chr4:115562526-115591790 (+)
AKR/J	MGP_AKRJ_G0028600	protein coding gene	Chr4:118071842-118101102 (+)
BALB/cJ	MGP_BALBcJ_G0028670	protein coding gene	Chr4:116177356-116207483 (+)
C3H/HeJ	MGP_C3HHeJ_G0028385	protein coding gene	Chr4:119635843-119665081 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029111	protein coding gene	Chr4:124860054-124889326 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026388	protein coding gene	Chr4:109662542-109692197 (+)
CAST/EiJ	MGP_CASTEiJ_G0027816	protein coding gene	Chr4:116951653-116980957 (+)
CBA/J	MGP_CBAJ_G0028352	protein coding gene	Chr4:128223263-128252477 (+)
DBA/2J	MGP_DBA2J_G0028499	protein coding gene	Chr4:116153103-116182383 (+)
FVB/NJ	MGP_FVBNJ_G0028465	protein coding gene	Chr4:114665564-114695069 (+)
LP/J	MGP_LPJ_G0028599	protein coding gene	Chr4:120395931-120425146 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028493	protein coding gene	Chr4:133103225-133132508 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029148	protein coding gene	Chr4:119146156-119175407 (+)
PWK/PhJ	MGP_PWKPhJ_G0027539	protein coding gene	Chr4:113072834-113102262 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027365	protein coding gene	Chr4:115560296-115594299 (+)
WSB/EiJ	MGP_WSBEiJ_G0027896	protein coding gene	Chr4:119144548-119173785 (+)

Human Ortholog

SLC2A1, solute carrier family 2 member 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SLC2A1, solute carrier family 2 member 1
Synonyms

CSE, DYT17, DYT18, DYT9, EIG12, GLUT, GLUT1, GLUT-1, GLUT1DS, HTLVR, PED, SDCHCN
Links

HGNC:11005

NCBI Gene ID: 6513

neXtProt AC: NX_P11166

UniProt: P11166
Chr Location

1p34.2; chr1:42925375-42959176 (-) GRCh38.p7

Alliance of Genome Resources

Slc2a1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: SLC2A1
Gene Tree

Slc2a1

Diseases

3 with human SLC2A1 associations

				Human Disease	Mouse Models
				childhood onset GLUT1 deficiency syndrome 2 IDs childhood onset GLUT1 deficiency syndrome 2 DOID:0090045 ICD10CM:G24.8 OMIM:612126 ORDO:98811
				dystonia 9 IDs dystonia 9 DOID:0090044 ICD10CM:G24.8 OMIM:601042 ORDO:53583
				idiopathic generalized epilepsy 12 IDs idiopathic generalized epilepsy 12 DOID:0111313 OMIM:614847

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

12 phenotypes from 2 alleles in 2 genetic backgrounds
20 phenotypes from multigenic genotypes
1 images
65 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

67
Chemically induced (ENU)

1
Chemically induced (other)

2
Gene trapped

53
Radiation induced

1
Targeted

6
Transgenic

4
Genomic Mutations

4 involving Slc2a1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

55 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null embryos are small, lack visibly detectable eyes, show a diminutive rostral embryonic pole and an overall developmental delay, and die at E10-E14. Heterozygotes show spontaneous seizures, impaired motor performance, hypoglycorrhachia, microencephaly, and reduced brain glucose uptake.

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All GO Annotations

77
GO References

19

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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	non-membrane-bounded 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

1224
Tissues

152
cDNA Data

310
Literature Summary

130

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase slc2a1

ZFIN slc2a1a, slc2a1b

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Slc2a1 interacts with 199 markers (Mir7-1, Mir7-2, Mir7b, ...) View All

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All Sequences

56
RefSeq

4
UniProt

8
CCDS

CCDS18569.1

Ensembl

ENSMUSG00000028645 (Evidence)
NCBI Gene

20525

Representative Sequences				Length	Strain/Species	Flank
	genomic	20525	NCBI Gene Model \| MGI Sequence Detail	28586	C57BL/6J	± kb

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UniProt

8 Sequences
Protein Ontology

PR:000015058 solute carrier family 2, facilitated glucose transporter member 1

(term hierarchy)
InterPro Domains

IPR045263 Glucose transporter GLUT

IPR002439 Glucose transporter, type 1 (GLUT1)

IPR005828 Major facilitator, sugar transporter-like

IPR020846 Major facilitator superfamily domain

IPR036259 MFS transporter superfamily

IPR003663 Sugar/inositol transporter

IPR005829 Sugar transporter, conserved site

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All nucleic 332

Genomic 3

cDNA 313

Primer pair 14

Other 2

Microarray probesets 4

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MGD-MRK-10155, MGD-MRK-10159, MGI:3811854

Summaries

All 333

Developmental Gene Expression 130

Gene Ontology 19

Phenotypes 65
Earliest

J:16692 Kaestner KH, et al., Sequence, tissue distribution, and differential expression of mRNA for a putative insulin-responsive glucose transporter in mouse 3T3-L1 adipocytes [published erratum appears in Proc Natl Acad Sci U S A 1989 Jul;86(13):4937]. Proc Natl Acad Sci U S A. 1989 May;86(9):3150-4
Latest

J:321836 Zhao K, et al., LONP1-mediated mitochondrial quality control safeguards metabolic shifts in heart development. Development. 2022 Mar 15;149(6):dev200458

TSS for Slc2a1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr38698	Chr4:118965933-118965955 (+)	2 bp
Tssr38699	Chr4:118965992-118966009 (+)	59 bp
Tssr38700	Chr4:118966477-118966527 (+)	560 bp
Tssr38701	Chr4:118977611-118977656 (+)	11,692 bp
Tssr38702	Chr4:118983410-118983420 (+)	17,473 bp
Tssr38703	Chr4:118989353-118989409 (+)	23,439 bp
Tssr38704	Chr4:118989426-118989441 (+)	23,492 bp
Tssr38705	Chr4:118989821-118989835 (+)	23,886 bp
Tssr38706	Chr4:118990381-118990417 (+)	24,457 bp
Tssr38707	Chr4:118990624-118990687 (+)	24,714 bp
Tssr38708	Chr4:118993450-118993462 (+)	27,514 bp
Tssr38709	Chr4:118993747-118993770 (+)	27,817 bp
Tssr38710	Chr4:118993819-118993839 (+)	27,887 bp
Tssr38711	Chr4:118993882-118993893 (+)	27,946 bp
Tssr38712	Chr4:118993911-118993916 (+)	27,972 bp
Tssr38713	Chr4:118993974-118993985 (+)	28,038 bp
Tssr38714	Chr4:118994023-118994055 (+)	28,097 bp
Tssr38715	Chr4:118994070-118994086 (+)	28,136 bp
Tssr38716	Chr4:118994087-118994114 (+)	28,159 bp
Tssr38717	Chr4:118994247-118994274 (+)	28,319 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 & Copyright Notice Send questions and comments to User Support.	last database update 05/10/2022 MGI 6.19