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O43826

- G6PT1_HUMAN

UniProt

O43826 - G6PT1_HUMAN

Protein

Glucose-6-phosphate translocase

Gene

SLC37A4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 146 (01 Oct 2014)
      Sequence version 1 (01 Jun 1998)
      Previous versions | rss
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    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

    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

    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

    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...

    Transmembrane

    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

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG2271.
    HOGENOMiHOG000274730.
    HOVERGENiHBG051682.
    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

    MAAQGYGYYR TVIFSAMFGG YSLYYFNRKT FSFVMPSLVE EIPLDKDDLG    50
    FITSSQSAAY AISKFVSGVL SDQMSARWLF SSGLLLVGLV NIFFAWSSTV 100
    PVFAALWFLN GLAQGLGWPP CGKVLRKWFE PSQFGTWWAI LSTSMNLAGG 150
    LGPILATILA QSYSWRSTLA LSGALCVVVS FLCLLLIHNE PADVGLRNLD 200
    PMPSEGKKGS LKEESTLQEL LLSPYLWVLS TGYLVVFGVK TCCTDWGQFF 250
    LIQEKGQSAL VGSSYMSALE VGGLVGSIAA GYLSDRAMAK AGLSNYGNPR 300
    HGLLLFMMAG MTVSMYLFRV TVTSDSPKLW ILVLGAVFGF SSYGPIALFG 350
    VIANESAPPN LCGTSHAIVG LMANVGGFLA GLPFSTIAKH YSWSTAFWVA 400
    EVICAASTAA FFLLRNIRTK MGRVSKKAE 429
    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.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    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

    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 1, 2014
    This is version 146 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

    Dasty 3