G6PT1_HUMAN
Source:
BSc_CH
Marked as 'Integral membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
SLC37A4
, G6PT, G6PT1
, PRO0685, TRG19
Protein names and data:
G6PT1_HUMAN
, Glucose-6-phosphate translocase
, Glucose-5-phosphate transporter; Solute carrier family 37 member 4; Transformation-related gene 19 protein; TRG-19
Lenght: 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
)
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. 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. 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.
Cellular location:
Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential).
Tissue specificity:
Mostly expressed in liver and kidney.
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
Database cross-references
UniProt:
O43826
Ensembl:
ENST00000572996
Ensembl:
ENST00000577093
Ensembl:
ENST00000590663
MIM:
232220
MIM:
232240
MIM:
602671
neXtProt:
NX_O43826
Antibodypedia:
O43826
(may not find the protein thus also not any antibody)
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