| |
|---|---|
| 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 | D-glucopyranose 6-phosphate, beta-D-glucose 6-phosphate |
Cross database links:
| 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 | |
External Searches:
|
Analyze:
| Predict TMSs (Predict number of transmembrane segments) | ||||
| 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