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2.A.1.4.5
Microsomal (ER/Golgi) glucose-6-P:Pi antiporter (glycogen storage disease (GSD1b and 1c); Gierke''s disease protein) (SLC37A2 in mice, associated with white adipose tissue obesity and expressed at high levels in macrophage) (4 isoforms present in humans (Chen et al., 2008)).  SLC37A1 and A2 can not substitute for A4.  91 mutations have been observed in human patients (Chou and Mansfield 2014).  Inhibited by cholorogenic acid although SLC37A1 and A2 are not.  SLC37A3 had not been characterized by 2014 (Chou and Mansfield 2014).

Accession Number:O43826
Protein Name:G6PU aka GSD1b aka G6PT1 aka G6PT
Length:429
Molecular Weight:46360.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:11
Location1 / Topology2 / Orientation3: Endoplasmic reticulum membrane1 / Multi-pass membrane protein2
Substrate Glucose-6-phosphate

Cross database links:

HOG000274730
Genevestigator: O43826 O43826
eggNOG: prNOG06389 COG2271
RefSeq: NP_001157749.1    NP_001157750.1    NP_001157751.1    NP_001157752.1    NP_001458.1   
Entrez Gene ID: 2542   
Pfam: PF07690   
OMIM: 232220  phenotype
232240  phenotype
602671  gene
KEGG: hsa:2542    hsa:2542   

Gene Ontology

GO:0005789 C:endoplasmic reticulum membrane
GO:0030176 C:integral to endoplasmic reticulum membrane
GO:0016021 C:integral to membrane
GO:0015152 F:glucose-6-phosphate transmembrane transport...
GO:0042593 P:glucose homeostasis
GO:0006006 P:glucose metabolic process
GO:0015760 P:glucose-6-phosphate transport
GO:0055085 P:transmembrane transport
GO:0015152 F:glucose-6-phosphate transmembrane transporter activity

References (43)

[1] “Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.”  Gerin I.et.al.   9428641
[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.et.al.   9856496
[3] “Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.”  Hiraiwa H.et.al.   10026167
[4] “Structure of the gene mutated in glycogen storage disease type Ib.”  Gerin I.et.al.   10023055
[5] “Molecular diagnosis of type 1c glycogen storage disease.”  Janecke A.R.et.al.   10323254
[6] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[7] “Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.”  Chou J.Y.et.al.   11949931
[8] “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.et.al.   9758626
[9] “Structure and mutation analysis of the glycogen storage disease type 1b gene.”  Marcolongo P.et.al.   9781688
[10] “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.et.al.   10482962
[11] “Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.”  Galli L.et.al.   10518030
[12] “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.et.al.   9675154
[13] “Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.”  Hou D.-C.et.al.   10482875
[14] “Mutation analysis in glycogen storage disease type 1 non-a.”  Janecke A.R.et.al.   11071391
[15] “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.et.al.   10874322
[16] “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.et.al.   10923042
[17] “Glycogen storage disease type Ib without neutropenia.”  Kure S.et.al.   10931421
[18] “Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.”  Yuen Y.-P.et.al.   12409273
[19] “Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.”  Trioche P.et.al.   15669677
[20] “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.et.al.   15059622
[21] “Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.”  Gerin I.et.al.   9428641
[22] “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.et.al.   9856496
[23] “Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.”  Hiraiwa H.et.al.   10026167
[24] “Structure of the gene mutated in glycogen storage disease type Ib.”  Gerin I.et.al.   10023055
[25] “Molecular diagnosis of type 1c glycogen storage disease.”  Janecke A.R.et.al.   10323254
[26] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[27] “Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.”  Chou J.Y.et.al.   11949931
[28] “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.et.al.   9758626
[29] “Structure and mutation analysis of the glycogen storage disease type 1b gene.”  Marcolongo P.et.al.   9781688
[30] “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.et.al.   10482962
[31] “Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.”  Galli L.et.al.   10518030
[32] “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.et.al.   9675154
[33] “Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.”  Hou D.-C.et.al.   10482875
[34] “Mutation analysis in glycogen storage disease type 1 non-a.”  Janecke A.R.et.al.   11071391
[35] “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.et.al.   10874322
[36] “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.et.al.   10923042
[37] “Glycogen storage disease type Ib without neutropenia.”  Kure S.et.al.   10931421
[38] “Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.”  Yuen Y.-P.et.al.   12409273
[39] “Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.”  Trioche P.et.al.   15669677
[40] “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.et.al.   15059622
[41] “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.et.al.   15953877
[42] “Glycogen storage disease type Ib: the first case in Taiwan.”  Hsiao H.J.et.al.   19579760
[43] “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.et.al.   21629566

External Searches:

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Analyze:

Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MAAQGYGYYR TVIFSAMFGG YSLYYFNRKT FSFVMPSLVE EIPLDKDDLG FITSSQSAAY 
61:	AISKFVSGVL SDQMSARWLF SSGLLLVGLV NIFFAWSSTV PVFAALWFLN GLAQGLGWPP 
121:	CGKVLRKWFE PSQFGTWWAI LSTSMNLAGG LGPILATILA QSYSWRSTLA LSGALCVVVS 
181:	FLCLLLIHNE PADVGLRNLD PMPSEGKKGS LKEESTLQEL LLSPYLWVLS TGYLVVFGVK 
241:	TCCTDWGQFF LIQEKGQSAL VGSSYMSALE VGGLVGSIAA GYLSDRAMAK AGLSNYGNPR 
301:	HGLLLFMMAG MTVSMYLFRV TVTSDSPKLW ILVLGAVFGF SSYGPIALFG VIANESAPPN 
361:	LCGTSHAIVG LMANVGGFLA GLPFSTIAKH YSWSTAFWVA EVICAASTAA FFLLRNIRTK 
421:	MGRVSKKAE