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O43826 (G6PT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 142. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:SLC37A4
Synonyms:G6PT, G6PT1
ORF Names:PRO0685, TRG19
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length429 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.3

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein Potential.

Tissue specificity

Mostly expressed in liver and kidney.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.2 Ref.3 Ref.11 Ref.12 Ref.13 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27 Ref.28 Ref.29

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.15

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.

Sequence similarities

Belongs to the major facilitator superfamily. Organophosphate:Pi antiporter (OPA) (TC 2.A.1.4) family. [View classification]

Sequence caution

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

Ontologies

Keywords
   Biological processSugar transport
Transport
   Cellular componentEndoplasmic reticulum
Membrane
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
Glycogen storage disease
   DomainTransmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcarbohydrate metabolic process

Traceable author statement. Source: Reactome

glucose homeostasis

Inferred from direct assay PubMed 11140953PubMed 11140953. Source: UniProtKB

glucose metabolic process

Non-traceable author statement Ref.1. Source: UniProtKB

glucose transport

Traceable author statement. Source: Reactome

glucose-6-phosphate transport

Inferred from direct assay PubMed 11140953PubMed 11140953. Source: UniProtKB

hexose transport

Traceable author statement. Source: Reactome

small molecule metabolic process

Traceable author statement. Source: Reactome

transmembrane transport

Traceable author statement. Source: Reactome

transport

Non-traceable author statement Ref.1. Source: UniProtKB

   Cellular_componentendoplasmic reticulum

Non-traceable author statement PubMed 212064. Source: UniProtKB

endoplasmic reticulum membrane

Traceable author statement. Source: Reactome

integral component of endoplasmic reticulum membrane

Inferred from direct assay PubMed 10318794. Source: UniProtKB

integral component of membrane

Non-traceable author statement Ref.1. Source: UniProtKB

   Molecular_functionglucose-6-phosphate transmembrane transporter activity

Inferred from direct assay PubMed 11140953PubMed 11140953. Source: UniProtKB

transporter activity

Non-traceable author statement Ref.1. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O43826-1)

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.
Isoform 2 (identifier: O43826-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 429429Glucose-6-phosphate translocase
PRO_0000199891

Regions

Transmembrane84 – 10421Helical; Potential
Transmembrane105 – 12521Helical; Potential
Transmembrane139 – 15921Helical; Potential
Transmembrane167 – 18721Helical; Potential
Transmembrane219 – 23921Helical; Potential
Transmembrane260 – 28021Helical; Potential
Transmembrane302 – 32221Helical; Potential
Transmembrane329 – 34921Helical; Potential
Transmembrane368 – 38821Helical; Potential
Transmembrane394 – 41421Helical; Potential

Natural variations

Alternative sequence3281K → KDVAFWTLALHPLAELTGFT EHE in isoform 2.
VSP_006171
Natural variant201G → D in GSD1B. Ref.12
Corresponds to variant rs193302881 [ dbSNP | Ensembl ].
VAR_025581
Natural variant241Y → H in GSD1B. Ref.24
Corresponds to variant rs193302887 [ dbSNP | Ensembl ].
VAR_025582
Natural variant271N → K in GSD1B. Ref.22
Corresponds to variant rs193302889 [ dbSNP | Ensembl ].
VAR_025583
Natural variant281R → C in GSD1B. Ref.12
Corresponds to variant rs193302882 [ dbSNP | Ensembl ].
VAR_025584
Natural variant281R → H in GSD1B; inactive glucose-6-phosphate transport. Ref.3 Ref.11
Corresponds to variant rs121908978 [ dbSNP | Ensembl ].
VAR_016840
Natural variant501G → E in GSD1B. Ref.29
Corresponds to variant rs193302877 [ dbSNP | Ensembl ].
VAR_066394
Natural variant501G → R in GSD1B. Ref.15
Corresponds to variant rs193302894 [ dbSNP | Ensembl ].
VAR_025585
Natural variant541S → R in GSD1B. Ref.20
Corresponds to variant rs193302898 [ dbSNP | Ensembl ].
VAR_025586
Natural variant551S → R in GSD1B. Ref.12
Corresponds to variant rs193302884 [ dbSNP | Ensembl ].
VAR_025587
Natural variant681G → R in GSD1B. Ref.12
Corresponds to variant rs193302885 [ dbSNP | Ensembl ].
VAR_025588
Natural variant851L → P in GSD1B. Ref.11
Corresponds to variant rs193302899 [ dbSNP | Ensembl ].
VAR_025589
Natural variant881G → D in GSD1B. Ref.12
Corresponds to variant rs193302886 [ dbSNP | Ensembl ].
VAR_025590
Natural variant1181W → R in GSD1B. Ref.2 Ref.17 Ref.18 Ref.26
Corresponds to variant rs80356489 [ dbSNP | Ensembl ].
VAR_007850
Natural variant1331Q → P in GSD1C. Ref.15
Corresponds to variant rs193302896 [ dbSNP | Ensembl ].
VAR_025591
Natural variant1481A → V in GSD1B. Ref.27
Corresponds to variant rs193302879 [ dbSNP | Ensembl ].
VAR_066395
Natural variant1491G → E in GSD1B. Ref.19
Corresponds to variant rs193302892 [ dbSNP | Ensembl ].
VAR_003184
Natural variant1501G → R in GSD1B. Ref.12
Corresponds to variant rs193302883 [ dbSNP | Ensembl ].
VAR_025592
Natural variant1531P → L in GSD1B. Ref.22
Corresponds to variant rs193302890 [ dbSNP | Ensembl ].
VAR_025593
Natural variant1761C → R in GSD1B. Ref.15
Corresponds to variant rs193302895 [ dbSNP | Ensembl ].
VAR_025594
Natural variant1831C → R in GSD1B. Ref.15
Corresponds to variant rs193302893 [ dbSNP | Ensembl ].
VAR_025595
Natural variant1911P → L in GSD1B. Ref.21
Corresponds to variant rs193302888 [ dbSNP | Ensembl ].
VAR_032113
Natural variant1981N → I. Ref.12
Corresponds to variant rs34203644 [ dbSNP | Ensembl ].
VAR_025596
Natural variant2291L → P in GSD1B. Ref.25
Corresponds to variant rs193302902 [ dbSNP | Ensembl ].
VAR_025597
Natural variant2351Missing in GSD1B. Ref.18
VAR_012356
Natural variant2461W → R in GSD1B. Ref.28
Corresponds to variant rs193302878 [ dbSNP | Ensembl ].
VAR_066396
Natural variant2781I → N in GSD1B. Ref.11
Corresponds to variant rs193302900 [ dbSNP | Ensembl ].
VAR_025598
Natural variant3001R → C in GSD1B. Ref.15
Corresponds to variant rs193302880 [ dbSNP | Ensembl ].
VAR_066397
Natural variant3001R → H in GSD1B. Ref.13
Corresponds to variant rs193302903 [ dbSNP | Ensembl ].
VAR_025599
Natural variant3011H → P in GSD1B. Ref.22
Corresponds to variant rs193302891 [ dbSNP | Ensembl ].
VAR_025600
Natural variant3391G → C in GSD1B. Ref.1
Corresponds to variant rs80356490 [ dbSNP | Ensembl ].
VAR_003185
Natural variant3391G → D in GSD1B. Ref.11 Ref.23
Corresponds to variant rs121908980 [ dbSNP | Ensembl ].
VAR_025601
Natural variant3671A → T in GSD1B. Ref.16
Corresponds to variant rs80356492 [ dbSNP | Ensembl ].
VAR_025602
Natural variant3731A → D in GSD1B. Ref.11
Corresponds to variant rs193302901 [ dbSNP | Ensembl ].
VAR_025603
Natural variant3761G → S in GSD1C. Ref.15
Corresponds to variant rs193302897 [ dbSNP | Ensembl ].
VAR_025604

Experimental info

Sequence conflict1091L → F in AAD19898. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 1998. Version 1.
Checksum: C0399332FE72694B

FASTA42946,360
        10         20         30         40         50         60 
MAAQGYGYYR TVIFSAMFGG YSLYYFNRKT FSFVMPSLVE EIPLDKDDLG FITSSQSAAY 

        70         80         90        100        110        120 
AISKFVSGVL SDQMSARWLF SSGLLLVGLV NIFFAWSSTV PVFAALWFLN GLAQGLGWPP 

       130        140        150        160        170        180 
CGKVLRKWFE PSQFGTWWAI LSTSMNLAGG LGPILATILA QSYSWRSTLA LSGALCVVVS 

       190        200        210        220        230        240 
FLCLLLIHNE PADVGLRNLD PMPSEGKKGS LKEESTLQEL LLSPYLWVLS TGYLVVFGVK 

       250        260        270        280        290        300 
TCCTDWGQFF LIQEKGQSAL VGSSYMSALE VGGLVGSIAA GYLSDRAMAK AGLSNYGNPR 

       310        320        330        340        350        360 
HGLLLFMMAG MTVSMYLFRV TVTSDSPKLW ILVLGAVFGF SSYGPIALFG VIANESAPPN 

       370        380        390        400        410        420 
LCGTSHAIVG LMANVGGFLA GLPFSTIAKH YSWSTAFWVA EVICAASTAA FFLLRNIRTK 


MGRVSKKAE 

« Hide

Isoform 2 [UniParc].

Checksum: A5696ADCDC67D90A
Show »

FASTA45148,840

References

« Hide 'large scale' references
[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]"Molecular diagnosis of type 1c glycogen storage disease."
Janecke A.R., Bosshard N.U., Mayatepek E., Schulze A., Gitzelmann R., Burchell A., Bartram C.R., Janssen B.
Hum. Genet. 104:275-277(1999) [PubMed] [Europe PMC] [Abstract]
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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"Structure and mutation analysis of the glycogen storage disease type 1b gene."
Marcolongo P., Barone V., Priori G., Pirola B., Giglio S., Biasucci G., Zammarchi E., Parenti G., Burchell A., Benedetti A., Sorrentino V.
FEBS Lett. 436:247-250(1998) [PubMed] [Europe PMC] [Abstract]
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]"Mutation analysis in glycogen storage disease type 1 non-a."
Janecke A.R., Lindner M., Erdel M., Mayatepek E., Moeslinger D., Podskarbi T., Fresser F., Stoeckler-Ipsiroglu S., Hoffmann G.F., Utermann G.
Hum. Genet. 107:285-289(2000) [PubMed] [Europe PMC] [Abstract]
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]"Glycogen storage disease type Ib without neutropenia."
Kure S., Hou D.-C., Suzuki Y., Yamagishi A., Hiratsuka M., Fukuda T., Sugie H., Kondo N., Matsubara Y., Narisawa K.
J. Pediatr. 137:253-256(2000) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001157749.1. NM_001164277.1.
NP_001157750.1. NM_001164278.1.
NP_001157751.1. NM_001164279.1.
NP_001157752.1. NM_001164280.1.
NP_001458.1. NM_001467.5.
UniGeneHs.719203.

3D structure databases

ProteinModelPortalO43826.
SMRO43826. Positions 6-381.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108817. 3 interactions.
IntActO43826. 1 interaction.
STRING9606.ENSP00000339048.

Protein family/group databases

TCDB2.A.1.4.5. the major facilitator superfamily (mfs).

PTM databases

PhosphoSiteO43826.

Proteomic databases

PaxDbO43826.
PRIDEO43826.

Protocols and materials databases

DNASU2542.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000572996; ENSP00000458712; ENSG00000262676. [O43826-1]
ENST00000577093; ENSP00000461344; ENSG00000262676. [O43826-1]
ENST00000590663; ENSP00000464769; ENSG00000262676. [O43826-2]
GeneID2542.
KEGGhsa:2542.
UCSCuc001pus.2. human. [O43826-1]
uc010ryr.1. human. [O43826-2]

Organism-specific databases

CTD2542.
GeneCardsGC11M118894.
HGNCHGNC:4061. SLC37A4.
HPAHPA038939.
HPA038940.
MIM232220. phenotype.
232240. phenotype.
602671. gene.
neXtProtNX_O43826.
Orphanet79259. Glycogen storage disease due to glucose-6-phosphatase deficiency type b.
PharmGKBPA28472.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2271.
HOGENOMHOG000274730.
HOVERGENHBG051682.
KOK08171.
OMAPINVLFT.
OrthoDBEOG70CR7M.
PhylomeDBO43826.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_15518. Transmembrane transport of small molecules.

Gene expression databases

CleanExHS_SLC37A4.
GenevestigatorO43826.

Family and domain databases

InterProIPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
IPR021159. Sugar-P_transporter_CS.
IPR000849. Sugar_P_transporter.
[Graphical view]
PfamPF07690. MFS_1. 1 hit.
[Graphical view]
PIRSFPIRSF002808. Hexose_phosphate_transp. 1 hit.
SUPFAMSSF103473. SSF103473. 1 hit.
TIGRFAMsTIGR00881. 2A0104. 1 hit.
PROSITEPS00942. GLPT. 1 hit.
PS50850. MFS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSLC37A4.
GenomeRNAi2542.
NextBio10031.
PROO43826.
SOURCESearch...

Entry information

Entry nameG6PT1_HUMAN
AccessionPrimary (citable) accession number: O43826
Secondary accession number(s): O96016 expand/collapse secondary AC list , Q5J7V4, Q9UI19, Q9UNS4
Entry history
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: June 1, 1998
Last modified: April 16, 2014
This is version 142 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM