O43826 (G6PT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	SLC37A4
Synonyms:	G6PT, G6PT1
ORF Names:	PRO0685, TRG19

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	429 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Sugar transport Transport
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Alternative splicing
Disease	Disease mutation Glycogen storage disease
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	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 small molecule metabolic process Traceable author statement. Source: Reactome
Cellular_component	endoplasmic reticulum membrane Traceable author statement. Source: Reactome integral to endoplasmic reticulum membrane Inferred from direct assay PubMed 10318794. Source: UniProtKB integral to membrane Non-traceable author statement Ref.1. Source: UniProtKB
Molecular_function	glucose-6-phosphate transmembrane transporter activity Inferred from direct assay PubMed 11140953PubMed 11140953. 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 429	429	Glucose-6-phosphate translocase		PRO_0000199891
Regions
	Transmembrane	84 – 104	21	Helical; Potential
	Transmembrane	105 – 125	21	Helical; Potential
	Transmembrane	139 – 159	21	Helical; Potential
	Transmembrane	167 – 187	21	Helical; Potential
	Transmembrane	219 – 239	21	Helical; Potential
	Transmembrane	260 – 280	21	Helical; Potential
	Transmembrane	302 – 322	21	Helical; Potential
	Transmembrane	329 – 349	21	Helical; Potential
	Transmembrane	368 – 388	21	Helical; Potential
	Transmembrane	394 – 414	21	Helical; Potential
Natural variations
	Alternative sequence	328	1	K → KDVAFWTLALHPLAELTGFT EHE in isoform 2.		VSP_006171
	Natural variant	20	1	G → D in GSD1B. Ref.12 Corresponds to variant rs193302881 [ dbSNP | Ensembl ].		VAR_025581
	Natural variant	24	1	Y → H in GSD1B. Ref.24 Corresponds to variant rs193302887 [ dbSNP | Ensembl ].		VAR_025582
	Natural variant	27	1	N → K in GSD1B. Ref.22 Corresponds to variant rs193302889 [ dbSNP | Ensembl ].		VAR_025583
	Natural variant	28	1	R → C in GSD1B. Ref.12 Corresponds to variant rs193302882 [ dbSNP | Ensembl ].		VAR_025584
	Natural variant	28	1	R → H in GSD1B; inactive glucose-6-phosphate transport. Ref.3 Ref.11 Corresponds to variant rs121908978 [ dbSNP | Ensembl ].		VAR_016840
	Natural variant	50	1	G → E in GSD1B. Ref.29 Corresponds to variant rs193302877 [ dbSNP | Ensembl ].		VAR_066394
	Natural variant	50	1	G → R in GSD1B. Ref.15 Corresponds to variant rs193302894 [ dbSNP | Ensembl ].		VAR_025585
	Natural variant	54	1	S → R in GSD1B. Ref.20 Corresponds to variant rs193302898 [ dbSNP | Ensembl ].		VAR_025586
	Natural variant	55	1	S → R in GSD1B. Ref.12 Corresponds to variant rs193302884 [ dbSNP | Ensembl ].		VAR_025587
	Natural variant	68	1	G → R in GSD1B. Ref.12 Corresponds to variant rs193302885 [ dbSNP | Ensembl ].		VAR_025588
	Natural variant	85	1	L → P in GSD1B. Ref.11 Corresponds to variant rs193302899 [ dbSNP | Ensembl ].		VAR_025589
	Natural variant	88	1	G → D in GSD1B. Ref.12 Corresponds to variant rs193302886 [ dbSNP | Ensembl ].		VAR_025590
	Natural variant	118	1	W → R in GSD1B. Ref.2 Ref.17 Ref.18 Ref.26 Corresponds to variant rs80356489 [ dbSNP | Ensembl ].		VAR_007850
	Natural variant	133	1	Q → P in GSD1C. Ref.15 Corresponds to variant rs193302896 [ dbSNP | Ensembl ].		VAR_025591
	Natural variant	148	1	A → V in GSD1B. Ref.27 Corresponds to variant rs193302879 [ dbSNP | Ensembl ].		VAR_066395
	Natural variant	149	1	G → E in GSD1B. Ref.19 Corresponds to variant rs193302892 [ dbSNP | Ensembl ].		VAR_003184
	Natural variant	150	1	G → R in GSD1B. Ref.12 Corresponds to variant rs193302883 [ dbSNP | Ensembl ].		VAR_025592
	Natural variant	153	1	P → L in GSD1B. Ref.22 Corresponds to variant rs193302890 [ dbSNP | Ensembl ].		VAR_025593
	Natural variant	176	1	C → R in GSD1B. Ref.15 Corresponds to variant rs193302895 [ dbSNP | Ensembl ].		VAR_025594
	Natural variant	183	1	C → R in GSD1B. Ref.15 Corresponds to variant rs193302893 [ dbSNP | Ensembl ].		VAR_025595
	Natural variant	191	1	P → L in GSD1B. Ref.21 Corresponds to variant rs193302888 [ dbSNP | Ensembl ].		VAR_032113
	Natural variant	198	1	N → I. Ref.12 Corresponds to variant rs34203644 [ dbSNP | Ensembl ].		VAR_025596
	Natural variant	229	1	L → P in GSD1B. Ref.25 Corresponds to variant rs193302902 [ dbSNP | Ensembl ].		VAR_025597
	Natural variant	235	1	Missing in GSD1B. Ref.18		VAR_012356
	Natural variant	246	1	W → R in GSD1B. Ref.28 Corresponds to variant rs193302878 [ dbSNP | Ensembl ].		VAR_066396
	Natural variant	278	1	I → N in GSD1B. Ref.11 Corresponds to variant rs193302900 [ dbSNP | Ensembl ].		VAR_025598
	Natural variant	300	1	R → C in GSD1B. Ref.15 Corresponds to variant rs193302880 [ dbSNP | Ensembl ].		VAR_066397
	Natural variant	300	1	R → H in GSD1B. Ref.13 Corresponds to variant rs193302903 [ dbSNP | Ensembl ].		VAR_025599
	Natural variant	301	1	H → P in GSD1B. Ref.22 Corresponds to variant rs193302891 [ dbSNP | Ensembl ].		VAR_025600
	Natural variant	339	1	G → C in GSD1B. Ref.1 Corresponds to variant rs80356490 [ dbSNP | Ensembl ].		VAR_003185
	Natural variant	339	1	G → D in GSD1B. Ref.11 Ref.23 Corresponds to variant rs121908980 [ dbSNP | Ensembl ].		VAR_025601
	Natural variant	367	1	A → T in GSD1B. Ref.16 Corresponds to variant rs80356492 [ dbSNP | Ensembl ].		VAR_025602
	Natural variant	373	1	A → D in GSD1B. Ref.11 Corresponds to variant rs193302901 [ dbSNP | Ensembl ].		VAR_025603
	Natural variant	376	1	G → S in GSD1C. Ref.15 Corresponds to variant rs193302897 [ dbSNP | Ensembl ].		VAR_025604
Experimental info
	Sequence conflict	109	1	L → F in AAD19898. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 1998. Version 1. Checksum: C0399332FE72694B	FASTA	429	46,360
	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
	Isoform 2 [UniParc]. Checksum: A5696ADCDC67D90A	FASTA	451	48,840
	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 TVTSDSPKDV AFWTLALHPL AELTGFTEHE LWILVLGAVF 370 380 390 400 410 420 GFSSYGPIAL FGVIANESAP PNLCGTSHAI VGLMANVGGF LAGLPFSTIA KHYSWSTAFW 430 440 450 VAEVICAAST AAFFLLRNIR TKMGRVSKKA E

References

	« Hide 'large scale' referencesShow '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. , 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.

Web resources

GeneReviews

Mendelian genes solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4)

Leiden Open Variation Database (LOVD)

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.
IPI	IPI00014479. IPI00217409.
RefSeq	NP_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.
UniGene	Hs.719203.
3D structure databases
ProteinModelPortal	O43826.
ModBase	Search...
Protein-protein interaction databases
IntAct	O43826. 1 interaction.
STRING	9606.ENSP00000339048.
Protein family/group databases
TCDB	2.A.1.4.5. major facilitator superfamily (MFS).
PTM databases
PhosphoSite	O43826.
Proteomic databases
PaxDb	O43826.
PRIDE	O43826.
Protocols and materials databases
DNASU	2542.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000572996; ENSP00000458712; ENSG00000262676. ENST00000577093; ENSP00000461344; ENSG00000262676. ENST00000590663; ENSP00000464769; ENSG00000262676.
GeneID	2542.
KEGG	hsa:2542.
UCSC	uc001pus.2. human. uc010ryr.1. human.
Organism-specific databases
CTD	2542.
GeneCards	GC11M118894.
HGNC	HGNC:4061. SLC37A4.
MIM	232220. phenotype. 232240. phenotype. 602671. gene.
neXtProt	NX_O43826.
Orphanet	79259. Glycogen storage disease due to glucose-6-phosphatase deficiency type b.
PharmGKB	PA28472.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2271.
HOGENOM	HOG000274730.
HOVERGEN	HBG051682.
KO	K08171.
OrthoDB	EOG41G345.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism. REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
CleanEx	HS_SLC37A4.
Genevestigator	O43826.
GermOnline	ENSG00000137700. Homo sapiens.
Family and domain databases
InterPro	IPR011701. MFS. IPR020846. MFS_dom. IPR016196. MFS_dom_general_subst_transpt. IPR021159. Sugar-P_transporter_CS. IPR000849. Sugar_P_transporter. [Graphical view]
Pfam	PF07690. MFS_1. 1 hit. [Graphical view]
PIRSF	PIRSF002808. Hexose_phosphate_transp. 1 hit.
SUPFAM	SSF103473. MFS_gen_substrate_transporter. 1 hit.
TIGRFAMs	TIGR00881. 2A0104. 1 hit.
PROSITE	PS00942. GLPT. 1 hit. PS50850. MFS. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	2542.
NextBio	10031.
SOURCE	Search...

Entry information

Entry name

G6PT1_HUMAN

Accession

Primary (citable) accession number: O43826
Secondary accession number(s): O96016 , Q5J7V4, Q9UI19, Q9UNS4

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 15, 1998
Last sequence update:	June 1, 1998
Last modified:	May 29, 2013
This is version 134 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.