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SLC2A1 Gene

protein-coding GIFtS: 72

GC01M043164

solute carrier family 2 (facilitated glucose transporter), member 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: GLUT1, GLUT)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
DYT17 ^²
DYT18 ^¹, ², ⁵
GLUT ^²
GLUT-1 ^³
GLUT1 ^², ³, ⁵
MGC141895 ^²
MGC141896 ^²
OTTHUMP00000009006 ^²
PED ^², ⁵

Descriptions
Glucose transporter type 1, erythrocyte/brain ^³
HepG2 glucose transporter ^³
solute carrier family 2 (facilitated glucose transporter), member 1 ^²

External Ids
HGNC: 11005¹
Entrez Gene: 6513²
UniProtKB: P11166³
Ensembl: ENSG00000117394⁷

Search outside databases for aliases for SLC2A1 gene

Previous GC identifers: GC01P043382 GC01M042395 GC01M042855 GC01M042804 GC01M043060

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for SLC2A1:

This gene encodes a major glucose transporter in the mammalian blood-brain barrier. Mutations in

this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by

RefSeq]

UniProtKB/Swiss-Prot: GTR1_HUMAN, P11166

Function: Facilitative glucose transporter. This isoform may be responsible for constitutive or

basal glucose uptake. Has a very broad substrate specificity; can transport a wide range of

aldoses including both pentoses and hexoses

Gene Wiki entry for SLC2A1 (GLUT1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the SLC2A1 gene

Entrez Gene cytogenetic band: 1p35-p31.3 Ensembl cytogenetic band: 1p34.2 HGNC cytogenetic band: 1p34.2

SLC2A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M043164: (about GC identifiers)

Start:	43,164,102 bp from pter
End:	43,197,126 bp from pter
Size:	33,025 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000001.9 NT_032977.8

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: GTR1_HUMAN, P11166 (See protein sequence)

Recommended Name: Solute carrier family 2, facilitated glucose transporter member 1

Size: 492 amino acids; 54084 Da

Subcellular location: Cell membrane; Multi-pass membrane protein (By similarity). Melanosome.

Note=Localizes primarily at the cell surface (By similarity). Identified by mass spectrometry in

melanosome fractions from stage I to stage IV

PDB structures from and Proteopedia :

1SUK (3D)

Secondary accessions: B2R620 O75535 Q147X2

Post-translational modifications:

Phosphorylated upon DNA damage, probably by ATM or ATR¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_006507.2

ENSEMBL proteins:

ENSP00000361578 ENSP00000380214 ENSP00000361579

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Millipore Purified and/or Recombinant SLC2A1 Protein
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Glucose Transporter GLUT1)
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	IEA	--
GO:0005624	membrane fraction	TAS	9462754
GO:0005737	cytoplasm	IEA	--
GO:0005886	plasma membrane	IEA	--
GO:0016021	integral to membrane	IEA	--

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Antibodies for SLC2A1:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of SLC2A1
	Browse Antibodies at Sigma-Aldrich
	R&D Systems Antibodies for SLC2A1 (Glut1)
	Antibodies from Abcam (Glucose Transporter GLUT1), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Novus Biologicals Antibodies for GTR1

Assays for SLC2A1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P11166

ProtoNet protein and cluster: P11166

4 Blocks protein families:

IPB000803 Mammalian facilitated glucose transporter family signature

IPB002439 Glucose transporter type 1 (GLUT1) signature

IPB003663 Sugar transporter signature

IPB005829 Sugar transporter superfamily

UniProtKB/Swiss-Prot: GTR1_HUMAN, P11166

Similarity: Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.

Glucose transporter subfamily

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (SLC2A1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (SLC2A1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006516

Applied Biosystems Silencer® siRNAs for SLC2A1

Sigma-Aldrich siRNA and siRNA Panels for SLC2A1

Sigma-Aldrich shRNA for SLC2A1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_006516
Myc/DDK tagged cDNA clone in CMV expression vector: NM_006516
untagged cDNA clone in CMV expression vector: NM_006516

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_006516

UniProtKB/Swiss-Prot: GTR1_HUMAN, P11166

Function: Facilitative glucose transporter. This isoform may be responsible for constitutive or

basal glucose uptake. Has a very broad substrate specificity; can transport a wide range of

aldoses including both pentoses and hexoses

Genatlas biochemistry entry for SLC2A1:

solute carrier family 2,member A1,facilitated glucose transporter,not associated with

susceptibility to NIDDM

7 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Slc2a1):

behavior/neurological	cellular	embryogenesis	growth/size	homeostasis/metabolism
lethality-prenatal/perinatal	nervous system

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005215	transporter activity	IEA	--
GO:0005351	sugar:hydrogen symporter activity	IEA	--
GO:0005355	glucose transmembrane transporter activity	TAS	9462754
GO:0005515	protein binding	IEA	--
GO:0022891	substrate-specific transmembrane transporter activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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3 Sigma-Aldrich "Your Favorite Gene" Pathways for SLC2A1 (Your Favorite Gene powered by Ingenuity)

TR/RXR Activation
HIF1&alpha
Renal Cell Carcinoma Signaling

GeneDecks SLC2A1 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for SLC2A1

5/66 Interacting proteins for SLC2A1 (P11166² ENSP00000361579³) via UniProtKB, MINT, and/or STRING (see all 66 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
COPS6	Q7L5N1²	MINT-63456
HIF1A	ENSP00000338018³	STRING (score=.998)
INS	ENSP00000370731³	STRING (score=.989)
GAPDHL6	ENSP00000229239³	STRING (score=.982)
STOM	ENSP00000286713³	STRING (score=.982)

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3 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008643	carbohydrate transport	IEA	--
GO:0015758	glucose transport	TAS	9462754
GO:0055085	transmembrane transport	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Sigma-Aldrich Small Molecules for SLC2A1:

Inhibitor

Browse Tocris compounds for SLC2A1
10/33 Novoseek chemical compound relationships for SLC2A1 gene (see all 33 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
glucose	89.98	1848	2168170 (8), 18650261 (8), 15389572 (6), 11089547 (5) (see all 99)
cytochalasin b	84.72	109	8942661 (5), 8810921 (5), 1716731 (4), 14643928 (3) (see all 40)
3-o-methylglucose	83.47	32	1599406 (3), 16928769 (2), 10715121 (2), 8626697 (1) (see all 16)
2-n-4-(1-azi-2,2,2-trifluoroethyl)benzoyl-1,3-bis(d-mannos-4-yloxy)-2-propylamine	72.84	1	8444835 (1)
iaps-forskolin	71.72	1	2264820 (1)
3-omg	70.94	1	9724536 (1)
pimonidazole	68.72	13	16242253 (4), 12532423 (3), 14520462 (2), 18973979 (2)
18f fluorodeoxyglucose	66.05	51	19317609 (5), 12926062 (4), 19360342 (2), 15362743 (2) (see all 18)
galp	64.37	12	8168538 (5), 7929167 (3), 9182541 (1), 11342180 (1) (see all 6)
oligomycin b	60.74	1	8892317 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (SLC2A1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (SLC2A1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006516

Sigma-Aldrich siRNA and siRNA Panels for SLC2A1

Sigma-Aldrich shRNA for SLC2A1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_006516

REFSEQ mRNAs for SLC2A1 gene:

NM_006516.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_006516

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_006516
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_006516
                                 untagged cDNA clone in CMV expression vector: NM_006516

Additional cDNA sequence:

AB208987.1 AF070544.1 AK122999.1 AK292791.1 AK293306.1 AK296736.1 AK312403.1 AY034633.1

BC118590.1 BC121804.1 CR596198.1 CR596811.1 CR599895.1 CR600321.1 CR601030.1 CR601790.1

CR606197.1 CR606282.1 CR606581.1 CR618028.1 K03195.1

24/46 DOTS entries (see all 46 ):

DT.95069713 DT.100678799 DT.95069727 DT.91678781 DT.97855673 DT.95069724 DT.100678790 DT.91854288

DT.100645085 DT.121376287 DT.121376224 DT.121376359 DT.453395 DT.95069736 DT.100039361 DT.121376302

DT.100847216 DT.121376373 DT.95069687 DT.95146737 DT.100678789 DT.100834466 DT.100678793 DT.100678815

24/1138 AceView cDNA sequences (see all 1138 ):

BQ945062 CB409248 CR599895 C18705 BQ646155 AU130663 D11793 BG987803

AF070544 BM545441 AW418621 BM873553 BQ646901 BU552504 BG324417 AW675550

BG680895 BQ691238 BQ686431 AU129841 BI914623 BQ647312 BQ685946 BM724941

highest scoring ESTs for SLC2A1:

AL551743 AU130791 AU131889 AU133323 BE407330 BE877842 BI252186 BX382300 BX385804 BX442153

Unigene Cluster for SLC2A1:

Solute carrier family 2 (facilitated glucose transporter), member 1

Hs.706748 [show with all ESTs]

Unigene Representative Sequence: NM_006516

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for SLC2A1 (see all 8 )

ExUns:	1a	·	1b	·	1c	^	2	^	3a	·	3b	^	4a	·	4b	·	4c	·	4d	^	5a	·	5b	·	5c	·	5d	^	6	^	7	^	8a	·	8b	^	9	^	10	^	11a	·	11b	·	11c
SP1:							-												-		-						-
SP2:																			-								-
SP3:							-												-		-
SP4:							-												-		-
SP5:							-				-		-		-				-		-

About this scheme

ECgene alternative splicing isoforms for SLC2A1

3 Ensembl transcripts including schematic representations:

ENST00000372500 ENST00000397019 ENST00000372501

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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SLC2A1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for SLC2A1

¹ / ² / ³

5 probe-sets matching SLC2A1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
40507_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	K03195	0.80	1.00	0.91	1
201250_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_006516	0.60	1.00	0.82	1
201249_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AI091047	0.40	1.00	0.76	1
201250_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
201249_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks SLC2A1 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GAGACTCCTG

SOURCE GeneReport for Unigene cluster: Hs.706748
Expression variation in blood from EXPOLDB for SLC2A1
UniProtKB/Swiss-Prot: GTR1_HUMAN, P11166
Tissue specificity: Expressed at variable levels in many human tissues

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for SLC2A1 gene from 5/17 species (see all 17 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	SLC2A1¹	--	solute carrier family 2 (facilitated glucose transporter), more	93.22(n) 97.15(a)	482437 XM_539554.2 XP_539554.2
cow (Bos taurus)	SLC2A1¹	--	solute carrier family 2 (facilitated glucose transporter), more	92.14(n) 96.95(a)	282356 NM_174602.2 NP_777027.1
rat (Rattus norvegicus)	Slc2a1¹	--	solute carrier family 2 (facilitated glucose transporter), more	89.43(n) 97.56(a)	24778 NM_138827.1 NP_620182.1
mouse (Mus musculus)	Slc2a1^{1, 5}	4 (52.00 cM)⁵	solute carrier family 2 (facilitated glucose transporter), more^{1, 5}	89.02(n)¹ 96.14(a)¹	20525¹ NM_011400.2¹ NP_035530.1¹ AK089353⁵ AK155252⁵ (see all 18)
chicken (Gallus gallus)	SLC2A1¹	--	solute carrier family 2 (facilitated glucose transporter), more	80.67(n) 88.32(a)	396130 NM_205209.1 NP_990540.1

About this table Species with no ortholog for SLC2A1

ENSEMBL Gene Tree for SLC2A1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for SLC2A1 gene

SLC2A14² SLC2A2² SLC2A4² SLC2A3²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/281 NCBI SNPs in SLC2A1 are shown (see all 281 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 122)

AB	SNP ID	Valid	Chr 1 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs3806400^1,2	A,C,F,H	43198965(-)	`AAGGAG/AGATGA`	1	--	ng3¹ trp³		4	EU EA WA	416
	rs3820589^1,2	A,C,F,H	43198631(-)	`GTCCTT/ACCCTT`	1	--	ng3¹ trp³		3	EA WA	298
	rs4658^1,2	A,C,F,H	43164837(-)	`CACCCG/CTTCTG`	1	--	ut3¹ ese³		11	EA MN CSAM EU WA	1892
	rs3806401^1,2	C,F,H	43198799(-)	`CATACT/GCAACC`	1	--	ng3¹		5	EA EU WA	1894
	rs3754226^1,2	F,H	43197399(+)	`CCTCTC/GTGAGC`	1	--	ut5¹		1	WA	120
	rs3199358^1,2	A,C	43164668(-)	`RGGTTC/TTAGTC`	1	--	ut3¹ ese³		6	MN CSAM EA	592
--	rs11537640^1,2	C,F	43197106(-)	`GCAACA/CGCGAG`	1	--	ut5¹		2	MN EA	1252
	rs11933^1,2	C	43164649(-)	`ACTGAG/TGNCCA`	1	--	ut3¹ ese³		5	MN CSAM EA	408
	rs5811^1,2	H	43167954(-)	`GGAGAA/CGAAGG`	1	K/T	mis¹ ese³ trp³		5	MN EU EA WA	602
--	rs6413525^1,2	F	43164673(-)	`CTGCCG/AGGTTC`	1	--	ut3¹ ese³		5	MN CSAM EA	408

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HapMap Linkage Disequilibrium images for SLC2A1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 138140 disorders: 606777 612126 612126

UniProtKB/Swiss-Prot: GTR1_HUMAN, P11166

Defects in SLC2A1 are the cause of autosomal dominant GLUT1 deficiency syndrome

[MIM:606777]; also called blood-brain barrier glucose transport defect. This disease causes a

defect in glucose transport across the blood-brain barrier. It is characterized by infantile

seizures, delayed development, and acquired microcephaly

Defects in SLC2A1 are the cause of dystonia type 18 (DYT18) [MIM:612126]. DYT18 is an

exercise-induced paroxysmal dystonia/dyskinesia. Dystonia is defined by the presence of sustained

involuntary muscle contraction, often leading to abnormal postures. DYT18 is characterized by

attacks of involuntary movements triggered by certain stimuli such as sudden movement or prolonged

exercise. In some patients involuntary exertion-induced dystonic, choreoathetotic, and ballistic

movements may be associated with macrocytic hemolytic anemia

10/96 Novoseek disease relationships for SLC2A1 gene (see all 96 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
perineurioma	67.08	4	12692193 (1), 15086844 (1), 18620729 (1), 18520438 (1)
microcephaly	58.23	12	15152356 (1), 15622525 (1), 18614966 (1), 10323476 (1) (see all 10)
tumors	52.36	408	8683296 (9), 18620729 (7), 8314336 (5), 17991316 (5) (see all 99)
developmental delay	52.11	15	15622525 (1), 16217704 (1), 18614966 (1), 10323476 (1) (see all 14)
insulin resistance	50.53	18	9950801 (2), 9801136 (2), 11436180 (2), 1569156 (1) (see all 12)
diabetic nephropathies	50.02	26	15717166 (3), 11168944 (2), 15745834 (2), 15682272 (2) (see all 17)
hyperglycemia	48.94	24	14688680 (2), 11080093 (2), 16413942 (2), 9766571 (2) (see all 15)
hemangioma	41.88	37	17554865 (4), 10665907 (4), 17926859 (4), 17241430 (3) (see all 15)
granuloma pyogenic	41.82	6	17241430 (4), 15469208 (1), 10665907 (1)
cancer	40.70	118	9293784 (3), 17071132 (3), 17064593 (3), 18979289 (3) (see all 70)

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Genatlas disease: SLC2A1

infantile seizures,microcephaly,developmental delay and hypoglycorrhachia,caused by

haploinsufficiency of the blood-brain barrier hexose carrier

GeneTests: SLC2A1

Glucose Transporter Type 1 Deficiency Syndrome

Human Gene Mutation Database: SLC2A1
Genetic Association Database: SLC2A1
Human Genome Epidemiology Navigator: SLC2A1 (17 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/835 PubMed articles for SLC2A1 gene (see all 835 ):

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. (PubMed id 18451999)^{1, 2, 3, 4} Weber Y.G....Lerche H. (2008)
Autosomal dominant transmission of GLUT1 deficiency. (PubMed id 11136715)^{1, 3, 4} Klepper J.... Voit T. (2001)
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. (PubMed id 10980529)^{1, 3, 4} Wang D.... De Vivo D.C. (2000)
Association between the GLUT1 gene polymorphism and the risk of diabetic nephropathy: a meta-analysis. (PubMed id 15682272)^{1, 3, 6} Zintzaras E. and Stefanidis I. (2005)
A novel polymorphism in the 5' flanking region of the glucose transporter (GLUT1) gene is strongly associated with diabetic nephropathy in patients with Type 1 diabetes mellitus. (PubMed id 15745834)^{1, 3, 6} Hodgkinson A.D....Demaine A.G. (2005)
Role of GLUT1 gene in susceptibility to diabetic nephropathy in type 2 diabetes. (PubMed id 11168944)^{1, 3, 6} Grzeszczak W....Szydlowska I. (2001)
Diabetic microvascular complications are not associated with two polymorphisms in the GLUT-1 and PC-1 genes regulating glucose metabolism in Caucasian type 1 diabetic patients. (PubMed id 11477169)^{1, 3, 6} Tarnow L....Pedersen O. (2001)
Polymorphisms of the glucose transporter (GLUT1) gene are associated with diabetic nephropathy. (PubMed id 11231353)^{1, 3, 6} Hodgkinson A.D....Demaine A.G. (2001)
Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)^{3, 4} Chi A....Hunt D.F. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 6513	HGNC: 11005	AceView: SLC2A1	Ensembl:ENSG00000117394	euGenes: HUgn6513
ECgene: SLC2A1	H-InvDB: SLC2A1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
GeneReviews	http://www.genetests.org/query?gene=SLC2A1
Wikipedia	http://en.wikipedia.org/wiki/GLUT1

Licensable Technologies for SLC2A1
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for SLC2A1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for SLC2A1-related products

	Millipore Custom Antibody & Bulk Services
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Antibodies for GTR1

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

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SLC2A1 Gene

protein-coding GIFtS: 72

Aliases &
Descriptions
for SLC2A1

Summaries
for SLC2A1

Genomic Location
for SLC2A1

Proteins
for SLC2A1

Protein Domains/
Families
for SLC2A1

Gene Function
for SLC2A1

Pathways & Interactions
for SLC2A1

Drugs & Compounds
for SLC2A1

Transcripts
for SLC2A1

Expression
for SLC2A1

Orthologs
for SLC2A1

Paralogs
for SLC2A1

SNPs/Variants
for SLC2A1

Disorders & Mutations
for SLC2A1

Medical News
for SLC2A1

Publications
for SLC2A1

Search for SLC2A1

Genome Databases showing SLC2A1

Other Databases showing SLC2A1

Specialized Databases showing SLC2A1

Licensable Technologies
for SLC2A1

Services
for SLC2A1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

SLC2A1 Gene

protein-coding GIFtS: 72

Aliases & Descriptionsfor SLC2A1

Summariesfor SLC2A1

Genomic Locationfor SLC2A1

Proteinsfor SLC2A1

Protein Domains/Familiesfor SLC2A1

Gene Functionfor SLC2A1

Pathways & Interactionsfor SLC2A1

Drugs & Compoundsfor SLC2A1

Transcriptsfor SLC2A1

Expression for SLC2A1

Orthologsfor SLC2A1

Paralogsfor SLC2A1

SNPs/Variantsfor SLC2A1

Disorders & Mutationsfor SLC2A1

Medical Newsfor SLC2A1

Publicationsfor SLC2A1

Search for SLC2A1

Genome Databases showing SLC2A1

Other Databases showing SLC2A1

Specialized Databases showing SLC2A1

Licensable Technologiesfor SLC2A1

Servicesfor SLC2A1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for SLC2A1

Summaries
for SLC2A1

Genomic Location
for SLC2A1

Proteins
for SLC2A1

Protein Domains/
Families
for SLC2A1

Gene Function
for SLC2A1

Pathways & Interactions
for SLC2A1

Drugs & Compounds
for SLC2A1

Transcripts
for SLC2A1

Expression
for SLC2A1

Orthologs
for SLC2A1

Paralogs
for SLC2A1

SNPs/Variants
for SLC2A1

Disorders & Mutations
for SLC2A1

Medical News
for SLC2A1

Publications
for SLC2A1

Licensable Technologies
for SLC2A1

Services
for SLC2A1