SLCtables

SLC37A4

Protein name: SLC37A4, G6PT, SPX4 Aliases: glucose-6-phosphate Substrates: N/D Transport type: Exchanger / inorganic phosphate Tissue and cellular expression: ubiquitous, high levels in liver, kidney, prostate, pancreas, thymus, bone marrow, spleen Subcellular expression: N/D Disease: GSD-Ib/GSD-Ic, (OMIM232220/232240) Locus: 11q23.3 Sequence ID: 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 Gene ID: 2542 Splice variants: N/D

G6PT1_HUMAN (UniProt)

Gene names: SLC37A4, G6PT, G6PT1, PRO0685, TRG19
Protein names and data: G6PT1_HUMAN, Full=Glucose-6-phosphate translocase, Full=Glucose-5-phosphate transporter;Full=Solute carrier family 37 member 4;Full=Transformation-related gene 19 protein;Short=TRG-19; Length: 429 a.a., Mass: 46360 Da,
fasta formatted sequence
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
Disease: (OMIM: 232220 232240 602671) Defects in SLC37A4 are the cause of glycogen storage disease type 1B (GSD1B) [MIM:232220]. GSD1B is a metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. GSD1 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. GSD1B patients also present a tendency towards infections associated with neutropenia, relapsing aphthous gingivostomatitis, and inflammatory bowel disease; Defects in SLC37A4 are the cause of glycogen storage disease type 1C (GSD1C) [MIM:232240]; Defects in SLC37A4 are the cause of glycogen storage disease type 1D (GSD1D) [MIM:232240]
Cellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential)
Tissue specificity: Mostly expressed in liver and kidney

Database cross-references

UniProt: O43826
NextBio: 10031
OMIM: 232220 232240 602671
GeneCard: GC11M119024
TCDB: 2.A.1.4.5
PharmGenUCSF: SLC37A4
Guide to Pharmacology: SLC37A4 (1168)
SLC37 family of phosphosugar/phosphate exchangers (1168)
HGNC: HGNC:4061

Genetic variants

20 - 20 G -> D (in GSD1B; dbSNP:rs193302881). VAR_025581 193302881
24 - 24 Y -> H (in GSD1B; dbSNP:rs193302887). VAR_025582 193302887
27 - 27 N -> K (in GSD1B; dbSNP:rs193302889). VAR_025583 193302889
28 - 28 R -> C (in GSD1B; dbSNP:rs193302882). VAR_025584 193302882
28 - 28 R -> H (in GSD1B; inactive glucose-6- phosphate transport; dbSNP:rs121908978). VAR_016840 121908978
50 - 50 G -> E (in GSD1B; dbSNP:rs193302877). VAR_066394 193302877
50 - 50 G -> R (in GSD1B; dbSNP:rs193302894). VAR_025585 193302894
54 - 54 S -> R (in GSD1B; dbSNP:rs193302898). VAR_025586 193302898
55 - 55 S -> R (in GSD1B; dbSNP:rs193302884). VAR_025587 193302884
68 - 68 G -> R (in GSD1B; dbSNP:rs193302885). VAR_025588 193302885
85 - 85 L -> P (in GSD1B; dbSNP:rs193302899). VAR_025589 193302899
88 - 88 G -> D (in GSD1B; dbSNP:rs193302886). VAR_025590 193302886
118 - 118 W -> R (in GSD1B; dbSNP:rs80356489). VAR_007850 80356489
133 - 133 Q -> P (in GSD1C; dbSNP:rs193302896). VAR_025591 193302896
148 - 148 A -> V (in GSD1B; dbSNP:rs193302879). VAR_066395 193302879
149 - 149 G -> E (in GSD1B; dbSNP:rs193302892). VAR_003184 193302892
150 - 150 G -> R (in GSD1B; dbSNP:rs193302883). VAR_025592 193302883
153 - 153 P -> L (in GSD1B; dbSNP:rs193302890). VAR_025593 193302890
176 - 176 C -> R (in GSD1B; dbSNP:rs193302895). VAR_025594 193302895
183 - 183 C -> R (in GSD1B; dbSNP:rs193302893). VAR_025595 193302893
191 - 191 P -> L (in GSD1B; dbSNP:rs193302888). VAR_032113 193302888
198 - 198 N -> I (in dbSNP:rs34203644). VAR_025596 34203644
229 - 229 L -> P (in GSD1B; dbSNP:rs193302902). VAR_025597 193302902
235 - 235 Missing (in GSD1B). VAR_012356
246 - 246 W -> R (in GSD1B; dbSNP:rs193302878). VAR_066396 193302878
278 - 278 I -> N (in GSD1B; dbSNP:rs193302900). VAR_025598 193302900
300 - 300 R -> C (in GSD1B; dbSNP:rs193302880). VAR_066397 193302880
300 - 300 R -> H (in GSD1B; dbSNP:rs193302903). VAR_025599 193302903
301 - 301 H -> P (in GSD1B; dbSNP:rs193302891). VAR_025600 193302891
339 - 339 G -> C (in GSD1B; dbSNP:rs80356490). VAR_003185 80356490
339 - 339 G -> D (in GSD1B; dbSNP:rs121908980). VAR_025601 121908980
367 - 367 A -> T (in GSD1B; dbSNP:rs80356492). VAR_025602 80356492
373 - 373 A -> D (in GSD1B; dbSNP:rs193302901). VAR_025603 193302901
376 - 376 G -> S (in GSD1C; dbSNP:rs193302897). VAR_025604 193302897