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O43826

- G6PT1_HUMAN

UniProt

O43826 - G6PT1_HUMAN

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Protein

Glucose-6-phosphate translocase

Gene

SLC37A4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Transports glucose-6-phosphate from the cytoplasm to the lumen of the endoplasmic reticulum. Forms with glucose-6-phosphatase the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it plays a central role in homeostatic regulation of blood glucose levels.1 Publication

GO - Molecular functioni

  1. glucose-6-phosphate transmembrane transporter activity Source: UniProtKB
  2. transporter activity Source: UniProtKB

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. glucose-6-phosphate transport Source: UniProtKB
  3. glucose homeostasis Source: UniProtKB
  4. glucose metabolic process Source: UniProtKB
  5. glucose transport Source: Reactome
  6. hexose transport Source: Reactome
  7. small molecule metabolic process Source: Reactome
  8. transmembrane transport Source: Reactome
  9. transport Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Sugar transport, Transport

Enzyme and pathway databases

ReactomeiREACT_212. Glucose transport.

Protein family/group databases

TCDBi2.A.1.4.5. the major facilitator superfamily (mfs).

Names & Taxonomyi

Protein namesi
Recommended name:
Glucose-6-phosphate translocase
Alternative name(s):
Glucose-5-phosphate transporter
Solute carrier family 37 member 4
Transformation-related gene 19 protein
Short name:
TRG-19
Gene namesi
Name:SLC37A4
Synonyms:G6PT, G6PT1
ORF Names:PRO0685, TRG19
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Unplaced

Organism-specific databases

HGNCiHGNC:4061. SLC37A4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei84 – 10421HelicalSequence AnalysisAdd
BLAST
Transmembranei105 – 12521HelicalSequence AnalysisAdd
BLAST
Transmembranei139 – 15921HelicalSequence AnalysisAdd
BLAST
Transmembranei167 – 18721HelicalSequence AnalysisAdd
BLAST
Transmembranei219 – 23921HelicalSequence AnalysisAdd
BLAST
Transmembranei260 – 28021HelicalSequence AnalysisAdd
BLAST
Transmembranei302 – 32221HelicalSequence AnalysisAdd
BLAST
Transmembranei329 – 34921HelicalSequence AnalysisAdd
BLAST
Transmembranei368 – 38821HelicalSequence AnalysisAdd
BLAST
Transmembranei394 – 41421HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB
  2. endoplasmic reticulum membrane Source: Reactome
  3. integral component of endoplasmic reticulum membrane Source: UniProtKB
  4. integral component of membrane Source: UniProtKB
  5. membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Glycogen storage disease 1B (GSD1B) [MIM:232220]: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. Glycogen storage disease type 1B patients also present a tendency towards infections associated with neutropenia, relapsing aphthous gingivostomatitis, and inflammatory bowel disease.21 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti20 – 201G → D in GSD1B. 1 Publication
Corresponds to variant rs193302881 [ dbSNP | Ensembl ].
VAR_025581
Natural varianti24 – 241Y → H in GSD1B. 1 Publication
Corresponds to variant rs193302887 [ dbSNP | Ensembl ].
VAR_025582
Natural varianti27 – 271N → K in GSD1B. 1 Publication
Corresponds to variant rs193302889 [ dbSNP | Ensembl ].
VAR_025583
Natural varianti28 – 281R → C in GSD1B. 1 Publication
Corresponds to variant rs193302882 [ dbSNP | Ensembl ].
VAR_025584
Natural varianti28 – 281R → H in GSD1B; inactive glucose-6-phosphate transport. 2 Publications
Corresponds to variant rs121908978 [ dbSNP | Ensembl ].
VAR_016840
Natural varianti50 – 501G → E in GSD1B. 1 Publication
Corresponds to variant rs193302877 [ dbSNP | Ensembl ].
VAR_066394
Natural varianti50 – 501G → R in GSD1B. 1 Publication
Corresponds to variant rs193302894 [ dbSNP | Ensembl ].
VAR_025585
Natural varianti54 – 541S → R in GSD1B. 1 Publication
Corresponds to variant rs193302898 [ dbSNP | Ensembl ].
VAR_025586
Natural varianti55 – 551S → R in GSD1B. 1 Publication
Corresponds to variant rs193302884 [ dbSNP | Ensembl ].
VAR_025587
Natural varianti68 – 681G → R in GSD1B. 1 Publication
Corresponds to variant rs193302885 [ dbSNP | Ensembl ].
VAR_025588
Natural varianti85 – 851L → P in GSD1B. 1 Publication
Corresponds to variant rs193302899 [ dbSNP | Ensembl ].
VAR_025589
Natural varianti88 – 881G → D in GSD1B. 1 Publication
Corresponds to variant rs193302886 [ dbSNP | Ensembl ].
VAR_025590
Natural varianti118 – 1181W → R in GSD1B. 4 Publications
Corresponds to variant rs80356489 [ dbSNP | Ensembl ].
VAR_007850
Natural varianti148 – 1481A → V in GSD1B. 1 Publication
Corresponds to variant rs193302879 [ dbSNP | Ensembl ].
VAR_066395
Natural varianti149 – 1491G → E in GSD1B. 1 Publication
Corresponds to variant rs193302892 [ dbSNP | Ensembl ].
VAR_003184
Natural varianti150 – 1501G → R in GSD1B. 1 Publication
Corresponds to variant rs193302883 [ dbSNP | Ensembl ].
VAR_025592
Natural varianti153 – 1531P → L in GSD1B. 1 Publication
Corresponds to variant rs193302890 [ dbSNP | Ensembl ].
VAR_025593
Natural varianti176 – 1761C → R in GSD1B. 1 Publication
Corresponds to variant rs193302895 [ dbSNP | Ensembl ].
VAR_025594
Natural varianti183 – 1831C → R in GSD1B. 1 Publication
Corresponds to variant rs193302893 [ dbSNP | Ensembl ].
VAR_025595
Natural varianti191 – 1911P → L in GSD1B. 1 Publication
Corresponds to variant rs193302888 [ dbSNP | Ensembl ].
VAR_032113
Natural varianti229 – 2291L → P in GSD1B. 1 Publication
Corresponds to variant rs193302902 [ dbSNP | Ensembl ].
VAR_025597
Natural varianti235 – 2351Missing in GSD1B. 1 Publication
VAR_012356
Natural varianti246 – 2461W → R in GSD1B. 1 Publication
Corresponds to variant rs193302878 [ dbSNP | Ensembl ].
VAR_066396
Natural varianti278 – 2781I → N in GSD1B. 1 Publication
Corresponds to variant rs193302900 [ dbSNP | Ensembl ].
VAR_025598
Natural varianti300 – 3001R → C in GSD1B. 1 Publication
Corresponds to variant rs193302880 [ dbSNP | Ensembl ].
VAR_066397
Natural varianti300 – 3001R → H in GSD1B. 1 Publication
Corresponds to variant rs193302903 [ dbSNP | Ensembl ].
VAR_025599
Natural varianti301 – 3011H → P in GSD1B. 1 Publication
Corresponds to variant rs193302891 [ dbSNP | Ensembl ].
VAR_025600
Natural varianti339 – 3391G → C in GSD1B. 1 Publication
Corresponds to variant rs80356490 [ dbSNP | Ensembl ].
VAR_003185
Natural varianti339 – 3391G → D in GSD1B. 2 Publications
Corresponds to variant rs121908980 [ dbSNP | Ensembl ].
VAR_025601
Natural varianti367 – 3671A → T in GSD1B. 1 Publication
Corresponds to variant rs80356492 [ dbSNP | Ensembl ].
VAR_025602
Natural varianti373 – 3731A → D in GSD1B. 1 Publication
Corresponds to variant rs193302901 [ dbSNP | Ensembl ].
VAR_025603
Glycogen storage disease 1C (GSD1C) [MIM:232240]: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti133 – 1331Q → P in GSD1C. 1 Publication
Corresponds to variant rs193302896 [ dbSNP | Ensembl ].
VAR_025591
Natural varianti376 – 3761G → S in GSD1C. 1 Publication
Corresponds to variant rs193302897 [ dbSNP | Ensembl ].
VAR_025604
Glycogen storage disease 1D (GSD1D) [MIM:232240]: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Disease mutation, Glycogen storage disease

Organism-specific databases

MIMi232220. phenotype.
232240. phenotype.
Orphaneti79259. Glycogen storage disease due to glucose-6-phosphatase deficiency type b.
PharmGKBiPA28472.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 429429Glucose-6-phosphate translocasePRO_0000199891Add
BLAST

Proteomic databases

MaxQBiO43826.
PaxDbiO43826.
PRIDEiO43826.

PTM databases

PhosphoSiteiO43826.

Expressioni

Tissue specificityi

Mostly expressed in liver and kidney.

Gene expression databases

CleanExiHS_SLC37A4.
GenevestigatoriO43826.

Organism-specific databases

HPAiHPA038939.
HPA038940.

Interactioni

Protein-protein interaction databases

BioGridi108817. 3 interactions.
IntActiO43826. 1 interaction.
STRINGi9606.ENSP00000339048.

Structurei

3D structure databases

ProteinModelPortaliO43826.
SMRiO43826. Positions 6-381.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG2271.
HOGENOMiHOG000274730.
HOVERGENiHBG051682.
InParanoidiO43826.
KOiK08171.
OMAiPDAFQIT.
OrthoDBiEOG70CR7M.
PhylomeDBiO43826.

Family and domain databases

InterProiIPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
IPR021159. Sugar-P_transporter_CS.
IPR000849. Sugar_P_transporter.
[Graphical view]
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
PIRSFiPIRSF002808. Hexose_phosphate_transp. 1 hit.
SUPFAMiSSF103473. SSF103473. 1 hit.
TIGRFAMsiTIGR00881. 2A0104. 1 hit.
PROSITEiPS00942. GLPT. 1 hit.
PS50850. MFS. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O43826-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAQGYGYYR TVIFSAMFGG YSLYYFNRKT FSFVMPSLVE EIPLDKDDLG
60 70 80 90 100
FITSSQSAAY AISKFVSGVL SDQMSARWLF SSGLLLVGLV NIFFAWSSTV
110 120 130 140 150
PVFAALWFLN GLAQGLGWPP CGKVLRKWFE PSQFGTWWAI LSTSMNLAGG
160 170 180 190 200
LGPILATILA QSYSWRSTLA LSGALCVVVS FLCLLLIHNE PADVGLRNLD
210 220 230 240 250
PMPSEGKKGS LKEESTLQEL LLSPYLWVLS TGYLVVFGVK TCCTDWGQFF
260 270 280 290 300
LIQEKGQSAL VGSSYMSALE VGGLVGSIAA GYLSDRAMAK AGLSNYGNPR
310 320 330 340 350
HGLLLFMMAG MTVSMYLFRV TVTSDSPKLW ILVLGAVFGF SSYGPIALFG
360 370 380 390 400
VIANESAPPN LCGTSHAIVG LMANVGGFLA GLPFSTIAKH YSWSTAFWVA
410 420
EVICAASTAA FFLLRNIRTK MGRVSKKAE
Length:429
Mass (Da):46,360
Last modified:June 1, 1998 - v1
Checksum:iC0399332FE72694B
GO
Isoform 2 (identifier: O43826-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     328-328: K → KDVAFWTLALHPLAELTGFTEHE

Show »
Length:451
Mass (Da):48,840
Checksum:iA5696ADCDC67D90A
GO

Sequence cautioni

The sequence AAF16691.1 differs from that shown. Reason: Frameshift at position 128. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti109 – 1091L → F in AAD19898. (PubMed:10026167)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti20 – 201G → D in GSD1B. 1 Publication
Corresponds to variant rs193302881 [ dbSNP | Ensembl ].
VAR_025581
Natural varianti24 – 241Y → H in GSD1B. 1 Publication
Corresponds to variant rs193302887 [ dbSNP | Ensembl ].
VAR_025582
Natural varianti27 – 271N → K in GSD1B. 1 Publication
Corresponds to variant rs193302889 [ dbSNP | Ensembl ].
VAR_025583
Natural varianti28 – 281R → C in GSD1B. 1 Publication
Corresponds to variant rs193302882 [ dbSNP | Ensembl ].
VAR_025584
Natural varianti28 – 281R → H in GSD1B; inactive glucose-6-phosphate transport. 2 Publications
Corresponds to variant rs121908978 [ dbSNP | Ensembl ].
VAR_016840
Natural varianti50 – 501G → E in GSD1B. 1 Publication
Corresponds to variant rs193302877 [ dbSNP | Ensembl ].
VAR_066394
Natural varianti50 – 501G → R in GSD1B. 1 Publication
Corresponds to variant rs193302894 [ dbSNP | Ensembl ].
VAR_025585
Natural varianti54 – 541S → R in GSD1B. 1 Publication
Corresponds to variant rs193302898 [ dbSNP | Ensembl ].
VAR_025586
Natural varianti55 – 551S → R in GSD1B. 1 Publication
Corresponds to variant rs193302884 [ dbSNP | Ensembl ].
VAR_025587
Natural varianti68 – 681G → R in GSD1B. 1 Publication
Corresponds to variant rs193302885 [ dbSNP | Ensembl ].
VAR_025588
Natural varianti85 – 851L → P in GSD1B. 1 Publication
Corresponds to variant rs193302899 [ dbSNP | Ensembl ].
VAR_025589
Natural varianti88 – 881G → D in GSD1B. 1 Publication
Corresponds to variant rs193302886 [ dbSNP | Ensembl ].
VAR_025590
Natural varianti118 – 1181W → R in GSD1B. 4 Publications
Corresponds to variant rs80356489 [ dbSNP | Ensembl ].
VAR_007850
Natural varianti133 – 1331Q → P in GSD1C. 1 Publication
Corresponds to variant rs193302896 [ dbSNP | Ensembl ].
VAR_025591
Natural varianti148 – 1481A → V in GSD1B. 1 Publication
Corresponds to variant rs193302879 [ dbSNP | Ensembl ].
VAR_066395
Natural varianti149 – 1491G → E in GSD1B. 1 Publication
Corresponds to variant rs193302892 [ dbSNP | Ensembl ].
VAR_003184
Natural varianti150 – 1501G → R in GSD1B. 1 Publication
Corresponds to variant rs193302883 [ dbSNP | Ensembl ].
VAR_025592
Natural varianti153 – 1531P → L in GSD1B. 1 Publication
Corresponds to variant rs193302890 [ dbSNP | Ensembl ].
VAR_025593
Natural varianti176 – 1761C → R in GSD1B. 1 Publication
Corresponds to variant rs193302895 [ dbSNP | Ensembl ].
VAR_025594
Natural varianti183 – 1831C → R in GSD1B. 1 Publication
Corresponds to variant rs193302893 [ dbSNP | Ensembl ].
VAR_025595
Natural varianti191 – 1911P → L in GSD1B. 1 Publication
Corresponds to variant rs193302888 [ dbSNP | Ensembl ].
VAR_032113
Natural varianti198 – 1981N → I.1 Publication
Corresponds to variant rs34203644 [ dbSNP | Ensembl ].
VAR_025596
Natural varianti229 – 2291L → P in GSD1B. 1 Publication
Corresponds to variant rs193302902 [ dbSNP | Ensembl ].
VAR_025597
Natural varianti235 – 2351Missing in GSD1B. 1 Publication
VAR_012356
Natural varianti246 – 2461W → R in GSD1B. 1 Publication
Corresponds to variant rs193302878 [ dbSNP | Ensembl ].
VAR_066396
Natural varianti278 – 2781I → N in GSD1B. 1 Publication
Corresponds to variant rs193302900 [ dbSNP | Ensembl ].
VAR_025598
Natural varianti300 – 3001R → C in GSD1B. 1 Publication
Corresponds to variant rs193302880 [ dbSNP | Ensembl ].
VAR_066397
Natural varianti300 – 3001R → H in GSD1B. 1 Publication
Corresponds to variant rs193302903 [ dbSNP | Ensembl ].
VAR_025599
Natural varianti301 – 3011H → P in GSD1B. 1 Publication
Corresponds to variant rs193302891 [ dbSNP | Ensembl ].
VAR_025600
Natural varianti339 – 3391G → C in GSD1B. 1 Publication
Corresponds to variant rs80356490 [ dbSNP | Ensembl ].
VAR_003185
Natural varianti339 – 3391G → D in GSD1B. 2 Publications
Corresponds to variant rs121908980 [ dbSNP | Ensembl ].
VAR_025601
Natural varianti367 – 3671A → T in GSD1B. 1 Publication
Corresponds to variant rs80356492 [ dbSNP | Ensembl ].
VAR_025602
Natural varianti373 – 3731A → D in GSD1B. 1 Publication
Corresponds to variant rs193302901 [ dbSNP | Ensembl ].
VAR_025603
Natural varianti376 – 3761G → S in GSD1C. 1 Publication
Corresponds to variant rs193302897 [ dbSNP | Ensembl ].
VAR_025604

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei328 – 3281K → KDVAFWTLALHPLAELTGFT EHE in isoform 2. 1 PublicationVSP_006171

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y15409 mRNA. Translation: CAA75608.1.
AF078163 Genomic DNA. Translation: AAC72916.1.
AF097831 Genomic DNA. Translation: AAD19898.1.
AF111852 mRNA. Translation: AAF16691.1. Frameshift.
AF110819 mRNA. Translation: AAF37735.1.
AF110820 mRNA. Translation: AAF37736.1.
Y17864 Genomic DNA. Translation: CAA76898.1.
AF116864, AF116862, AF116863 Genomic DNA. Translation: AAD13111.1.
AY423732 mRNA. Translation: AAS00495.1.
CH471065 Genomic DNA. Translation: EAW67432.1.
BC002400 mRNA. Translation: AAH02400.1.
BC003589 mRNA. Translation: AAH03589.1.
BC014663 mRNA. Translation: AAH14663.1.
BC015650 mRNA. Translation: AAH15650.1.
BC064563 mRNA. Translation: AAH64563.1.
RefSeqiNP_001157749.1. NM_001164277.1. [O43826-1]
NP_001157750.1. NM_001164278.1. [O43826-2]
NP_001157751.1. NM_001164279.1.
NP_001157752.1. NM_001164280.1. [O43826-1]
NP_001458.1. NM_001467.5. [O43826-1]
UniGeneiHs.719203.

Genome annotation databases

GeneIDi2542.
KEGGihsa:2542.
UCSCiuc001pus.2. human. [O43826-1]
uc010ryr.1. human. [O43826-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Mendelian genes solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y15409 mRNA. Translation: CAA75608.1 .
AF078163 Genomic DNA. Translation: AAC72916.1 .
AF097831 Genomic DNA. Translation: AAD19898.1 .
AF111852 mRNA. Translation: AAF16691.1 . Frameshift.
AF110819 mRNA. Translation: AAF37735.1 .
AF110820 mRNA. Translation: AAF37736.1 .
Y17864 Genomic DNA. Translation: CAA76898.1 .
AF116864 , AF116862 , AF116863 Genomic DNA. Translation: AAD13111.1 .
AY423732 mRNA. Translation: AAS00495.1 .
CH471065 Genomic DNA. Translation: EAW67432.1 .
BC002400 mRNA. Translation: AAH02400.1 .
BC003589 mRNA. Translation: AAH03589.1 .
BC014663 mRNA. Translation: AAH14663.1 .
BC015650 mRNA. Translation: AAH15650.1 .
BC064563 mRNA. Translation: AAH64563.1 .
RefSeqi NP_001157749.1. NM_001164277.1. [O43826-1 ]
NP_001157750.1. NM_001164278.1. [O43826-2 ]
NP_001157751.1. NM_001164279.1.
NP_001157752.1. NM_001164280.1. [O43826-1 ]
NP_001458.1. NM_001467.5. [O43826-1 ]
UniGenei Hs.719203.

3D structure databases

ProteinModelPortali O43826.
SMRi O43826. Positions 6-381.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108817. 3 interactions.
IntActi O43826. 1 interaction.
STRINGi 9606.ENSP00000339048.

Protein family/group databases

TCDBi 2.A.1.4.5. the major facilitator superfamily (mfs).

PTM databases

PhosphoSitei O43826.

Proteomic databases

MaxQBi O43826.
PaxDbi O43826.
PRIDEi O43826.

Protocols and materials databases

DNASUi 2542.
Structural Biology Knowledgebase Search...

Genome annotation databases

GeneIDi 2542.
KEGGi hsa:2542.
UCSCi uc001pus.2. human. [O43826-1 ]
uc010ryr.1. human. [O43826-2 ]

Organism-specific databases

CTDi 2542.
GeneCardsi GC11M118894.
GeneReviewsi SLC37A4.
HGNCi HGNC:4061. SLC37A4.
HPAi HPA038939.
HPA038940.
MIMi 232220. phenotype.
232240. phenotype.
602671. gene.
neXtProti NX_O43826.
Orphaneti 79259. Glycogen storage disease due to glucose-6-phosphatase deficiency type b.
PharmGKBi PA28472.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2271.
HOGENOMi HOG000274730.
HOVERGENi HBG051682.
InParanoidi O43826.
KOi K08171.
OMAi PDAFQIT.
OrthoDBi EOG70CR7M.
PhylomeDBi O43826.

Enzyme and pathway databases

Reactomei REACT_212. Glucose transport.

Miscellaneous databases

GeneWikii SLC37A4.
GenomeRNAii 2542.
NextBioi 10031.
PROi O43826.
SOURCEi Search...

Gene expression databases

CleanExi HS_SLC37A4.
Genevestigatori O43826.

Family and domain databases

InterProi IPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
IPR021159. Sugar-P_transporter_CS.
IPR000849. Sugar_P_transporter.
[Graphical view ]
Pfami PF07690. MFS_1. 1 hit.
[Graphical view ]
PIRSFi PIRSF002808. Hexose_phosphate_transp. 1 hit.
SUPFAMi SSF103473. SSF103473. 1 hit.
TIGRFAMsi TIGR00881. 2A0104. 1 hit.
PROSITEi PS00942. GLPT. 1 hit.
PS50850. MFS. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib."
    Gerin I., Veiga-Da-Cunha M., Achouri Y., Collet J.-F., van Schaftingen E.
    FEBS Lett. 419:235-238(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GSD1B CYS-339.
    Tissue: Urinary bladder.
  2. "Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib."
    Ihara K., Kuromaru R., Hara T.
    Hum. Genet. 103:493-496(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANT GSD1B ARG-118.
  3. "Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b."
    Hiraiwa H., Pan C.-J., Lin B., Moses S.W., Chou J.Y.
    J. Biol. Chem. 274:5532-5536(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, VARIANT GSD1B HIS-28, CHARACTERIZATION OF VARIANT HIS-28.
    Tissue: Liver.
  4. "Functional prediction of the coding sequences of 9 new genes deduced by analysis of cDNA clones from human fetal liver."
    Zhang C., Yu Y., Zhang S., Ouyang S., Luo L., Wei H., Zhou G., Zhang Y., Liu M., He F.
    Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Fetal liver.
  5. "Four different transcripts of putative glucose-6-phosphate translocase in human leukocytes."
    Li Y., van de Werve G.
    Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
  6. "Structure of the gene mutated in glycogen storage disease type Ib."
    Gerin I., Veiga-Da-Cunha M., Noel G., Van Schaftingen E.
    Gene 227:189-195(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING.
  7. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  8. "Identification of a human transformation gene."
    Kim J.W.
    Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  9. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  10. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Colon, Eye and Lung.
  11. "Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex."
    Chou J.Y., Matern D., Mansfield B.C., Chen Y.-T.
    Curr. Mol. Med. 2:121-143(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON GSD1B VARIANTS, VARIANTS GSD1B HIS-28; PRO-85; ASN-278; ASP-339 AND ASP-373.
  12. "A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic."
    Veiga-da-Cunha M., Gerin I., Chen Y.-T., de Barsy T., de Lonlay P., Dionisi-Vici C., Fenske C.D., Lee P.J., Leonard J.V., Maire I., McConkie-Rosell A., Schweitzer S., Vikkula M., Van Schaftingen E.
    Am. J. Hum. Genet. 63:976-983(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD1B ASP-20; CYS-28; ARG-55; ARG-68; ASP-88 AND ARG-150, VARIANT ILE-198.
  13. Cited for: VARIANT GSD1B HIS-300.
  14. Erratum
    Marcolongo P., Barone V., Priori G., Giglio S., Benedetti A., Sorrentino V.
    FEBS Lett. 445:451-451(1999)
  15. "The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a."
    Veiga-da-Cunha M., Gerin I., Chen Y.-T., Lee P.J., Leonard J.V., Maire I., Wendel U., Vikkula M., Van Schaftingen E.
    Eur. J. Hum. Genet. 7:717-723(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD1B ARG-50; ARG-176; ARG-183 AND CYS-300, VARIANTS GSD1C PRO-133 AND SER-376.
  16. "Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c."
    Galli L., Orrico A., Marcolongo P., Fulceri R., Burchell A., Melis D., Parini R., Gatti R., Lam C.-W., Benedetti A., Sorrentino V.
    FEBS Lett. 459:255-258(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD1B THR-367.
  17. "Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11."
    Kure S., Suzuki Y., Matsubara Y., Sakamoto O., Shintaku H., Isshiki G., Hoshida C., Izumi I., Sakura N., Narisawa K.
    Biochem. Biophys. Res. Commun. 248:426-431(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD1B ARG-118.
  18. "Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene."
    Hou D.-C., Kure S., Suzuki Y., Hasegawa Y., Hara Y., Inoue T., Kida Y., Matsubara Y., Narisawa K.
    Am. J. Med. Genet. 86:253-257(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD1B ARG-118 AND VAL-235 DEL.
  19. "Identification of a novel missense mutation (G149E) in the glucose-6-phosphate translocase gene in a Chinese family with glycogen storage disease 1b."
    Lam C.-W., Tong S.-F., Lam Y.-Y., Chan B.-Y., Ma C.-H., Lim P.-L.
    Hum. Mutat. 13:507-507(1999)
    Cited for: VARIANT GSD1B GLU-149.
  20. Cited for: VARIANT GSD1B ARG-54.
  21. "A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b."
    Lam C.-W., Chan K.-Y., Tong S.-F., Chan B.Y., Chan Y.-T., Chan Y.-W.
    Hum. Mutat. 16:94-94(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD1B LEU-191.
  22. "Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients."
    Santer R., Rischewski J., Block G., Kinner M., Wendel U., Schaub J., Schneppenheim R.
    Hum. Mutat. 16:177-177(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD1B LYS-27; LEU-153 AND PRO-301.
  23. Cited for: VARIANT GSD1B ASP-339.
  24. "Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b."
    Yuen Y.-P., Cheng W.-F., Tong S.-F., Chan Y.-T., Chan Y.-W., Lam C.-W.
    Mol. Genet. Metab. 77:249-251(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD1B HIS-24.
  25. "Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases."
    Trioche P., Petit F., Francoual J., Gajdos V., Capel L., Poues C., Labrune P.
    J. Inherit. Metab. Dis. 27:621-623(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD1B PRO-229.
  26. "Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R."
    Kojima K., Kure S., Kamada F., Hao K., Ichinohe A., Sato K., Aoki Y., Yoichi S., Kubota M., Horikawa R., Utsumi A., Miura M., Ogawa S., Kanazawa M., Kohno Y., Inokuchi M., Hasegawa T., Narisawa K., Matsubara Y.
    Mol. Genet. Metab. 81:343-346(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD1B ARG-118.
  27. "A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b."
    Han S.H., Ki C.S., Lee J.E., Hong Y.J., Son B.K., Lee K.H., Choe Y.H., Lee S.Y., Kim J.W.
    J. Korean Med. Sci. 20:499-501(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD1B VAL-148.
  28. "Glycogen storage disease type Ib: the first case in Taiwan."
    Hsiao H.J., Chang H.H., Hwu W.L., Lam C.W., Lee N.C., Chien Y.H.
    Pediatr. Neonatol. 50:125-128(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD1B ARG-246.
  29. "A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia."
    Dissanayake V.H., Jayasinghe J.D., Thilakaratne V., Jayasekara R.W.
    J. Mol. Genet. Med. 5:262-263(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD1B GLU-50.

Entry informationi

Entry nameiG6PT1_HUMAN
AccessioniPrimary (citable) accession number: O43826
Secondary accession number(s): O96016
, Q5J7V4, Q9UI19, Q9UNS4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: June 1, 1998
Last modified: October 29, 2014
This is version 147 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

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