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Glucose-6-phosphate exchanger SLC37A4 (Glucose-5-phosphate transporter) (Glucose-6-phosphate translocase) (Solute carrier family 37 member 4) (Transformation-related gene 19 protein) (TRG-19)

 G6PT1_HUMAN             Reviewed;         429 AA.
O43826; O96016; Q5J7V4; Q9UI19; Q9UNS4;
15-DEC-1998, integrated into UniProtKB/Swiss-Prot.
01-JUN-1998, sequence version 1.
22-NOV-2017, entry version 175.
RecName: Full=Glucose-6-phosphate exchanger SLC37A4 {ECO:0000305|PubMed:10026167, ECO:0000305|PubMed:21949678};
AltName: Full=Glucose-5-phosphate transporter;
AltName: Full=Glucose-6-phosphate translocase {ECO:0000303|PubMed:9428641};
AltName: Full=Solute carrier family 37 member 4 {ECO:0000312|HGNC:HGNC:4061};
AltName: Full=Transformation-related gene 19 protein {ECO:0000312|EMBL:AAS00495.1};
Short=TRG-19 {ECO:0000312|EMBL:AAS00495.1};
Name=SLC37A4 {ECO:0000312|HGNC:HGNC:4061}; Synonyms=G6PT, G6PT1;
ORFNames=PRO0685, TRG19 {ECO:0000312|EMBL:AAS00495.1};
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT GSD1B CYS-339.
TISSUE=Urinary bladder;
PubMed=9428641; DOI=10.1016/S0014-5793(97)01463-4;
Gerin I., Veiga-Da-Cunha M., Achouri Y., Collet J.-F.,
van Schaftingen E.;
"Sequence of a putative glucose 6-phosphate translocase, mutated in
glycogen storage disease type Ib.";
FEBS Lett. 419:235-238(1997).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), AND VARIANT GSD1B
ARG-118.
PubMed=9856496; DOI=10.1007/s004390050856;
Ihara K., Kuromaru R., Hara T.;
"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.";
Hum. Genet. 103:493-496(1998).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, VARIANT GSD1B HIS-28, AND
CHARACTERIZATION OF VARIANT HIS-28.
TISSUE=Liver;
PubMed=10026167; DOI=10.1074/jbc.274.9.5532;
Hiraiwa H., Pan C.-J., Lin B., Moses S.W., Chou J.Y.;
"Inactivation of the glucose 6-phosphate transporter causes glycogen
storage disease type 1b.";
J. Biol. Chem. 274:5532-5536(1999).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Fetal liver;
Zhang C., Yu Y., Zhang S., Ouyang S., Luo L., Wei H., Zhou G.,
Zhang Y., Liu M., He F.;
"Functional prediction of the coding sequences of 9 new genes deduced
by analysis of cDNA clones from human fetal liver.";
Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
Li Y., van de Werve G.;
"Four different transcripts of putative glucose-6-phosphate
translocase in human leukocytes.";
Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND ALTERNATIVE SPLICING.
PubMed=10023055; DOI=10.1016/S0378-1119(98)00614-3;
Gerin I., Veiga-Da-Cunha M., Noel G., Van Schaftingen E.;
"Structure of the gene mutated in glycogen storage disease type Ib.";
Gene 227:189-195(1999).
[7]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=10323254; DOI=10.1007/s004390050948;
Janecke A.R., Bosshard N.U., Mayatepek E., Schulze A., Gitzelmann R.,
Burchell A., Bartram C.R., Janssen B.;
"Molecular diagnosis of type 1c glycogen storage disease.";
Hum. Genet. 104:275-277(1999).
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Kim J.W.;
"Identification of a human transformation gene.";
Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases.
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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., 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.
[10]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Colon, Eye, and Lung;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[11]
FUNCTION, SUBCELLULAR LOCATION, AND ENZYME REGULATION.
PubMed=21949678; DOI=10.1371/journal.pone.0023157;
Pan C.J., Chen S.Y., Jun H.S., Lin S.R., Mansfield B.C., Chou J.Y.;
"SLC37A1 and SLC37A2 are phosphate-linked, glucose-6-phosphate
antiporters.";
PLoS ONE 6:E23157-E23157(2011).
[12]
REVIEW ON GSD1B VARIANTS, AND VARIANTS GSD1B HIS-28; PRO-85; ASN-278;
ASP-339 AND ASP-373.
PubMed=11949931; DOI=10.2174/1566524024605798;
Chou J.Y., Matern D., Mansfield B.C., Chen Y.-T.;
"Type I glycogen storage diseases: disorders of the glucose-6-
phosphatase complex.";
Curr. Mol. Med. 2:121-143(2002).
[13]
VARIANTS GSD1B ASP-20; CYS-28; ARG-55; ARG-68; ASP-88 AND ARG-150,
VARIANT ILE-198, AND INVOLVEMENT IN GSD1C AND GSD1D.
PubMed=9758626; DOI=10.1086/302068;
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.;
"A gene on chromosome 11q23 coding for a putative glucose-6-phosphate
translocase is mutated in glycogen-storage disease types Ib and Ic.";
Am. J. Hum. Genet. 63:976-983(1998).
[14]
VARIANT GSD1B HIS-300.
PubMed=9781688; DOI=10.1016/S0014-5793(98)01129-6;
Marcolongo P., Barone V., Priori G., Pirola B., Giglio S.,
Biasucci G., Zammarchi E., Parenti G., Burchell A., Benedetti A.,
Sorrentino V.;
"Structure and mutation analysis of the glycogen storage disease type
1b gene.";
FEBS Lett. 436:247-250(1998).
[15]
ERRATUM.
Marcolongo P., Barone V., Priori G., Giglio S., Benedetti A.,
Sorrentino V.;
FEBS Lett. 445:451-451(1999).
[16]
VARIANTS GSD1B ARG-50; ARG-176; ARG-183 AND CYS-300, AND VARIANTS
GSD1C PRO-133 AND SER-376.
PubMed=10482962; DOI=10.1038/sj.ejhg.5200366;
Veiga-da-Cunha M., Gerin I., Chen Y.-T., Lee P.J., Leonard J.V.,
Maire I., Wendel U., Vikkula M., Van Schaftingen E.;
"The putative glucose 6-phosphate translocase gene is mutated in
essentially all cases of glycogen storage disease type I non-a.";
Eur. J. Hum. Genet. 7:717-723(1999).
[17]
VARIANT GSD1B THR-367.
PubMed=10518030; DOI=10.1016/S0014-5793(99)01248-X;
Galli L., Orrico A., Marcolongo P., Fulceri R., Burchell A., Melis D.,
Parini R., Gatti R., Lam C.-W., Benedetti A., Sorrentino V.;
"Mutations in the glucose-6-phosphate transporter (G6PT) gene in
patients with glycogen storage diseases type 1b and 1c.";
FEBS Lett. 459:255-258(1999).
[18]
VARIANT GSD1B ARG-118.
PubMed=9675154; DOI=10.1006/bbrc.1998.8985;
Kure S., Suzuki Y., Matsubara Y., Sakamoto O., Shintaku H.,
Isshiki G., Hoshida C., Izumi I., Sakura N., Narisawa K.;
"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.";
Biochem. Biophys. Res. Commun. 248:426-431(1998).
[19]
VARIANTS GSD1B ARG-118 AND VAL-235 DEL.
PubMed=10482875;
DOI=10.1002/(SICI)1096-8628(19990917)86:3<253::AID-AJMG11>3.0.CO;2-7;
Hou D.-C., Kure S., Suzuki Y., Hasegawa Y., Hara Y., Inoue T.,
Kida Y., Matsubara Y., Narisawa K.;
"Glycogen storage disease type Ib: structural and mutational analysis
of the microsomal glucose-6-phosphate transporter gene.";
Am. J. Med. Genet. 86:253-257(1999).
[20]
VARIANT GSD1B GLU-149.
Lam C.-W., Tong S.-F., Lam Y.-Y., Chan B.-Y., Ma C.-H., Lim P.-L.;
"Identification of a novel missense mutation (G149E) in the glucose-6-
phosphate translocase gene in a Chinese family with glycogen storage
disease 1b.";
Hum. Mutat. 13:507-507(1999).
[21]
VARIANT GSD1B ARG-54.
PubMed=11071391; DOI=10.1007/s004390000371;
Janecke A.R., Lindner M., Erdel M., Mayatepek E., Moeslinger D.,
Podskarbi T., Fresser F., Stoeckler-Ipsiroglu S., Hoffmann G.F.,
Utermann G.;
"Mutation analysis in glycogen storage disease type 1 non-a.";
Hum. Genet. 107:285-289(2000).
[22]
VARIANT GSD1B LEU-191.
PubMed=10874322;
DOI=10.1002/1098-1004(200007)16:1<94::AID-HUMU26>3.0.CO;2-Q;
Lam C.-W., Chan K.-Y., Tong S.-F., Chan B.Y., Chan Y.-T., Chan Y.-W.;
"A novel missense mutation (P191L) in the glucose-6-phosphate
translocase gene identified in a Chinese family with glycogen storage
disease 1b.";
Hum. Mutat. 16:94-94(2000).
[23]
VARIANTS GSD1B LYS-27; LEU-153 AND PRO-301.
PubMed=10923042;
DOI=10.1002/1098-1004(200008)16:2<177::AID-HUMU13>3.0.CO;2-8;
Santer R., Rischewski J., Block G., Kinner M., Wendel U., Schaub J.,
Schneppenheim R.;
"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.";
Hum. Mutat. 16:177-177(2000).
[24]
VARIANT GSD1B ASP-339.
PubMed=10931421; DOI=10.1067/mpd.2000.107472;
Kure S., Hou D.-C., Suzuki Y., Yamagishi A., Hiratsuka M., Fukuda T.,
Sugie H., Kondo N., Matsubara Y., Narisawa K.;
"Glycogen storage disease type Ib without neutropenia.";
J. Pediatr. 137:253-256(2000).
[25]
VARIANT GSD1B HIS-24.
PubMed=12409273; DOI=10.1016/S1096-7192(02)00110-5;
Yuen Y.-P., Cheng W.-F., Tong S.-F., Chan Y.-T., Chan Y.-W.,
Lam C.-W.;
"Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen
storage disease type 1b.";
Mol. Genet. Metab. 77:249-251(2002).
[26]
VARIANT GSD1B PRO-229.
PubMed=15669677; DOI=10.1023/B:BOLI.0000042987.43395.c6;
Trioche P., Petit F., Francoual J., Gajdos V., Capel L., Poues C.,
Labrune P.;
"Allelic heterogeneity of glycogen storage disease type Ib in French
patients: a study of 11 cases.";
J. Inherit. Metab. Dis. 27:621-623(2004).
[27]
VARIANT GSD1B ARG-118.
PubMed=15059622; DOI=10.1016/j.ymgme.2003.12.004;
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.;
"Genetic testing of glycogen storage disease type Ib in Japan: five
novel G6PT1 mutations and a rapid detection method for a prevalent
mutation W118R.";
Mol. Genet. Metab. 81:343-346(2004).
[28]
VARIANT GSD1B VAL-148.
PubMed=15953877; DOI=10.3346/jkms.2005.20.3.499;
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.;
"A novel mutation (A148V) in the glucose 6-phosphate translocase
(SLC37A4) gene in a Korean patient with glycogen storage disease type
1b.";
J. Korean Med. Sci. 20:499-501(2005).
[29]
VARIANT GSD1B ARG-246.
PubMed=19579760; DOI=10.1016/S1875-9572(09)60048-6;
Hsiao H.J., Chang H.H., Hwu W.L., Lam C.W., Lee N.C., Chien Y.H.;
"Glycogen storage disease type Ib: the first case in Taiwan.";
Pediatr. Neonatol. 50:125-128(2009).
[30]
VARIANT GSD1B GLU-50.
PubMed=21629566; DOI=10.4172/1747-0862.1000046;
Dissanayake V.H., Jayasinghe J.D., Thilakaratne V., Jayasekara R.W.;
"A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen
storage disease type Ib associated with very early onset
neutropenia.";
J. Mol. Genet. Med. 5:262-263(2011).
-!- FUNCTION: Inorganic phosphate and glucose-6-phosphate antiporter
of the endoplasmic reticulum. Transports cytoplasmic glucose-6-
phosphate into the lumen of the endoplasmic reticulum and
translocates inorganic phosphate into the opposite direction.
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. {ECO:0000269|PubMed:10026167,
ECO:0000269|PubMed:21949678}.
-!- ENZYME REGULATION: Inhibited by vanadate and chlorogenic acid.
{ECO:0000269|PubMed:21949678}.
-!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
{ECO:0000269|PubMed:21949678}; Multi-pass membrane protein
{ECO:0000255}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=O43826-1; Sequence=Displayed;
Name=2;
IsoId=O43826-2; Sequence=VSP_006171;
-!- TISSUE SPECIFICITY: Mostly expressed in liver and kidney.
-!- 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.
{ECO:0000269|PubMed:10026167, ECO:0000269|PubMed:10482875,
ECO:0000269|PubMed:10482962, ECO:0000269|PubMed:10518030,
ECO:0000269|PubMed:10874322, ECO:0000269|PubMed:10923042,
ECO:0000269|PubMed:10931421, ECO:0000269|PubMed:11071391,
ECO:0000269|PubMed:11949931, ECO:0000269|PubMed:12409273,
ECO:0000269|PubMed:15059622, ECO:0000269|PubMed:15669677,
ECO:0000269|PubMed:15953877, ECO:0000269|PubMed:19579760,
ECO:0000269|PubMed:21629566, ECO:0000269|PubMed:9428641,
ECO:0000269|PubMed:9675154, ECO:0000269|PubMed:9758626,
ECO:0000269|PubMed:9781688, ECO:0000269|PubMed:9856496,
ECO:0000269|Ref.20}. Note=The disease is caused by mutations
affecting the gene represented in this entry.
-!- DISEASE: 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.
{ECO:0000269|PubMed:10482962, ECO:0000269|PubMed:9758626}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: 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.
{ECO:0000269|PubMed:9758626}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the major facilitator superfamily.
Organophosphate:Pi antiporter (OPA) (TC 2.A.1.4) family.
{ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAF16691.1; Type=Frameshift; Positions=128; Evidence={ECO:0000305};
-!- WEB RESOURCE: Name=Mendelian genes solute carrier family 37
(glucose-6-phosphate transporter), member 4 (SLC37A4); Note=Leiden
Open Variation Database (LOVD);
URL="http://www.lovd.nl/SLC37A4";
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EMBL; Y15409; CAA75608.1; -; mRNA.
EMBL; AF078163; AAC72916.1; -; Genomic_DNA.
EMBL; AF097831; AAD19898.1; -; Genomic_DNA.
EMBL; AF111852; AAF16691.1; ALT_FRAME; mRNA.
EMBL; AF110819; AAF37735.1; -; mRNA.
EMBL; AF110820; AAF37736.1; -; mRNA.
EMBL; Y17864; CAA76898.1; -; Genomic_DNA.
EMBL; AF116864; AAD13111.1; -; Genomic_DNA.
EMBL; AF116862; AAD13111.1; JOINED; Genomic_DNA.
EMBL; AF116863; AAD13111.1; JOINED; Genomic_DNA.
EMBL; AY423732; AAS00495.1; -; mRNA.
EMBL; CH471065; EAW67432.1; -; Genomic_DNA.
EMBL; BC002400; AAH02400.1; -; mRNA.
EMBL; BC003589; AAH03589.1; -; mRNA.
EMBL; BC014663; AAH14663.1; -; mRNA.
EMBL; BC015650; AAH15650.1; -; mRNA.
EMBL; BC064563; AAH64563.1; -; mRNA.
RefSeq; NP_001157749.1; NM_001164277.1. [O43826-1]
RefSeq; NP_001157750.1; NM_001164278.1. [O43826-2]
RefSeq; NP_001157751.1; NM_001164279.1.
RefSeq; NP_001157752.1; NM_001164280.1. [O43826-1]
RefSeq; NP_001458.1; NM_001467.5. [O43826-1]
UniGene; Hs.719203; -.
ProteinModelPortal; O43826; -.
BioGrid; 108817; 2.
IntAct; O43826; 3.
ChEMBL; CHEMBL3217398; -.
TCDB; 2.A.1.4.5; the major facilitator superfamily (mfs).
iPTMnet; O43826; -.
PhosphoSitePlus; O43826; -.
BioMuta; SLC37A4; -.
EPD; O43826; -.
MaxQB; O43826; -.
PeptideAtlas; O43826; -.
PRIDE; O43826; -.
DNASU; 2542; -.
Ensembl; ENST00000631372; ENSP00000486168; ENSG00000281500.
GeneID; 2542; -.
KEGG; hsa:2542; -.
CTD; 2542; -.
DisGeNET; 2542; -.
GeneCards; SLC37A4; -.
GeneReviews; SLC37A4; -.
HGNC; HGNC:4061; SLC37A4.
HPA; HPA038939; -.
HPA; HPA038940; -.
MalaCards; SLC37A4; -.
MIM; 232220; phenotype.
MIM; 232240; phenotype.
MIM; 602671; gene.
neXtProt; NX_O43826; -.
Orphanet; 79259; Glycogen storage disease due to glucose-6-phosphatase deficiency type b.
PharmGKB; PA28472; -.
HOGENOM; HOG000274730; -.
HOVERGEN; HBG051682; -.
InParanoid; O43826; -.
KO; K08171; -.
OrthoDB; EOG091G06B9; -.
PhylomeDB; O43826; -.
Reactome; R-HSA-3229133; Glycogen storage disease type Ib (SLC37A4).
Reactome; R-HSA-70263; Gluconeogenesis.
GeneWiki; SLC37A4; -.
GenomeRNAi; 2542; -.
PRO; PR:O43826; -.
Proteomes; UP000005640; Unplaced.
CleanEx; HS_SLC37A4; -.
GO; GO:0005783; C:endoplasmic reticulum; NAS:UniProtKB.
GO; GO:0005789; C:endoplasmic reticulum membrane; TAS:Reactome.
GO; GO:0030176; C:integral component of endoplasmic reticulum membrane; IDA:UniProtKB.
GO; GO:0016021; C:integral component of membrane; NAS:UniProtKB.
GO; GO:0016020; C:membrane; IDA:UniProtKB.
GO; GO:0061513; F:glucose 6-phosphate:inorganic phosphate antiporter activity; IDA:UniProtKB.
GO; GO:0015152; F:glucose-6-phosphate transmembrane transporter activity; IDA:UniProtKB.
GO; GO:0005215; F:transporter activity; NAS:UniProtKB.
GO; GO:0008643; P:carbohydrate transport; IEA:UniProtKB-KW.
GO; GO:0006094; P:gluconeogenesis; TAS:Reactome.
GO; GO:0042593; P:glucose homeostasis; IDA:UniProtKB.
GO; GO:0006006; P:glucose metabolic process; NAS:UniProtKB.
GO; GO:0015760; P:glucose-6-phosphate transport; IDA:UniProtKB.
GO; GO:0035435; P:phosphate ion transmembrane transport; IDA:UniProtKB.
GO; GO:0006810; P:transport; NAS:UniProtKB.
CDD; cd06174; MFS; 1.
InterPro; IPR011701; MFS.
InterPro; IPR020846; MFS_dom.
InterPro; IPR036259; MFS_trans_sf.
InterPro; IPR021159; Sugar-P_transporter_CS.
InterPro; IPR000849; Sugar_P_transporter.
Pfam; PF07690; MFS_1; 1.
PIRSF; PIRSF002808; Hexose_phosphate_transp; 1.
SUPFAM; SSF103473; SSF103473; 1.
PROSITE; PS00942; GLPT; 1.
PROSITE; PS50850; MFS; 1.
1: Evidence at protein level;
Alternative splicing; Antiport; Complete proteome; Disease mutation;
Endoplasmic reticulum; Glycogen storage disease; Membrane;
Reference proteome; Sugar transport; Transmembrane;
Transmembrane helix; Transport.
CHAIN 1 429 Glucose-6-phosphate exchanger SLC37A4.
/FTId=PRO_0000199891.
TRANSMEM 84 104 Helical. {ECO:0000255}.
TRANSMEM 105 125 Helical. {ECO:0000255}.
TRANSMEM 139 159 Helical. {ECO:0000255}.
TRANSMEM 167 187 Helical. {ECO:0000255}.
TRANSMEM 219 239 Helical. {ECO:0000255}.
TRANSMEM 260 280 Helical. {ECO:0000255}.
TRANSMEM 302 322 Helical. {ECO:0000255}.
TRANSMEM 329 349 Helical. {ECO:0000255}.
TRANSMEM 368 388 Helical. {ECO:0000255}.
TRANSMEM 394 414 Helical. {ECO:0000255}.
VAR_SEQ 328 328 K -> KDVAFWTLALHPLAELTGFTEHE (in isoform
2). {ECO:0000303|Ref.5}.
/FTId=VSP_006171.
VARIANT 20 20 G -> D (in GSD1B; dbSNP:rs193302881).
{ECO:0000269|PubMed:9758626}.
/FTId=VAR_025581.
VARIANT 24 24 Y -> H (in GSD1B; dbSNP:rs193302887).
{ECO:0000269|PubMed:12409273}.
/FTId=VAR_025582.
VARIANT 27 27 N -> K (in GSD1B; dbSNP:rs193302889).
{ECO:0000269|PubMed:10923042}.
/FTId=VAR_025583.
VARIANT 28 28 R -> C (in GSD1B; dbSNP:rs193302882).
{ECO:0000269|PubMed:9758626}.
/FTId=VAR_025584.
VARIANT 28 28 R -> H (in GSD1B; inactive glucose-6-
phosphate transport; dbSNP:rs121908978).
{ECO:0000269|PubMed:10026167,
ECO:0000269|PubMed:11949931}.
/FTId=VAR_016840.
VARIANT 50 50 G -> E (in GSD1B; dbSNP:rs193302877).
{ECO:0000269|PubMed:21629566}.
/FTId=VAR_066394.
VARIANT 50 50 G -> R (in GSD1B; dbSNP:rs193302894).
{ECO:0000269|PubMed:10482962}.
/FTId=VAR_025585.
VARIANT 54 54 S -> R (in GSD1B; dbSNP:rs193302898).
{ECO:0000269|PubMed:11071391}.
/FTId=VAR_025586.
VARIANT 55 55 S -> R (in GSD1B; dbSNP:rs193302884).
{ECO:0000269|PubMed:9758626}.
/FTId=VAR_025587.
VARIANT 68 68 G -> R (in GSD1B; dbSNP:rs193302885).
{ECO:0000269|PubMed:9758626}.
/FTId=VAR_025588.
VARIANT 85 85 L -> P (in GSD1B; dbSNP:rs193302899).
{ECO:0000269|PubMed:11949931}.
/FTId=VAR_025589.
VARIANT 88 88 G -> D (in GSD1B; dbSNP:rs193302886).
{ECO:0000269|PubMed:9758626}.
/FTId=VAR_025590.
VARIANT 118 118 W -> R (in GSD1B; dbSNP:rs80356489).
{ECO:0000269|PubMed:10482875,
ECO:0000269|PubMed:15059622,
ECO:0000269|PubMed:9675154,
ECO:0000269|PubMed:9856496}.
/FTId=VAR_007850.
VARIANT 133 133 Q -> P (in GSD1C; dbSNP:rs193302896).
{ECO:0000269|PubMed:10482962}.
/FTId=VAR_025591.
VARIANT 148 148 A -> V (in GSD1B; dbSNP:rs193302879).
{ECO:0000269|PubMed:15953877}.
/FTId=VAR_066395.
VARIANT 149 149 G -> E (in GSD1B; dbSNP:rs193302892).
{ECO:0000269|Ref.20}.
/FTId=VAR_003184.
VARIANT 150 150 G -> R (in GSD1B; dbSNP:rs193302883).
{ECO:0000269|PubMed:9758626}.
/FTId=VAR_025592.
VARIANT 153 153 P -> L (in GSD1B; dbSNP:rs193302890).
{ECO:0000269|PubMed:10923042}.
/FTId=VAR_025593.
VARIANT 176 176 C -> R (in GSD1B; dbSNP:rs193302895).
{ECO:0000269|PubMed:10482962}.
/FTId=VAR_025594.
VARIANT 183 183 C -> R (in GSD1B; dbSNP:rs193302893).
{ECO:0000269|PubMed:10482962}.
/FTId=VAR_025595.
VARIANT 191 191 P -> L (in GSD1B; dbSNP:rs193302888).
{ECO:0000269|PubMed:10874322}.
/FTId=VAR_032113.
VARIANT 198 198 N -> I (in dbSNP:rs34203644).
{ECO:0000269|PubMed:9758626}.
/FTId=VAR_025596.
VARIANT 229 229 L -> P (in GSD1B; dbSNP:rs193302902).
{ECO:0000269|PubMed:15669677}.
/FTId=VAR_025597.
VARIANT 235 235 Missing (in GSD1B).
{ECO:0000269|PubMed:10482875}.
/FTId=VAR_012356.
VARIANT 246 246 W -> R (in GSD1B; dbSNP:rs193302878).
{ECO:0000269|PubMed:19579760}.
/FTId=VAR_066396.
VARIANT 278 278 I -> N (in GSD1B; dbSNP:rs193302900).
{ECO:0000269|PubMed:11949931}.
/FTId=VAR_025598.
VARIANT 300 300 R -> C (in GSD1B; dbSNP:rs193302880).
{ECO:0000269|PubMed:10482962}.
/FTId=VAR_066397.
VARIANT 300 300 R -> H (in GSD1B; dbSNP:rs193302903).
{ECO:0000269|PubMed:9781688}.
/FTId=VAR_025599.
VARIANT 301 301 H -> P (in GSD1B; dbSNP:rs193302891).
{ECO:0000269|PubMed:10923042}.
/FTId=VAR_025600.
VARIANT 339 339 G -> C (in GSD1B; dbSNP:rs80356490).
{ECO:0000269|PubMed:9428641}.
/FTId=VAR_003185.
VARIANT 339 339 G -> D (in GSD1B; dbSNP:rs121908980).
{ECO:0000269|PubMed:10931421,
ECO:0000269|PubMed:11949931}.
/FTId=VAR_025601.
VARIANT 367 367 A -> T (in GSD1B; dbSNP:rs80356492).
{ECO:0000269|PubMed:10518030}.
/FTId=VAR_025602.
VARIANT 373 373 A -> D (in GSD1B; dbSNP:rs193302901).
{ECO:0000269|PubMed:11949931}.
/FTId=VAR_025603.
VARIANT 376 376 G -> S (in GSD1C; dbSNP:rs193302897).
{ECO:0000269|PubMed:10482962}.
/FTId=VAR_025604.
CONFLICT 109 109 L -> F (in Ref. 3; AAD19898).
{ECO:0000305}.
SEQUENCE 429 AA; 46360 MW; C0399332FE72694B CRC64;
MAAQGYGYYR TVIFSAMFGG YSLYYFNRKT FSFVMPSLVE EIPLDKDDLG FITSSQSAAY
AISKFVSGVL SDQMSARWLF SSGLLLVGLV NIFFAWSSTV PVFAALWFLN GLAQGLGWPP
CGKVLRKWFE PSQFGTWWAI LSTSMNLAGG LGPILATILA QSYSWRSTLA LSGALCVVVS
FLCLLLIHNE PADVGLRNLD PMPSEGKKGS LKEESTLQEL LLSPYLWVLS TGYLVVFGVK
TCCTDWGQFF LIQEKGQSAL VGSSYMSALE VGGLVGSIAA GYLSDRAMAK AGLSNYGNPR
HGLLLFMMAG MTVSMYLFRV TVTSDSPKLW ILVLGAVFGF SSYGPIALFG VIANESAPPN
LCGTSHAIVG LMANVGGFLA GLPFSTIAKH YSWSTAFWVA EVICAASTAA FFLLRNIRTK
MGRVSKKAE


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