SLC37A4 G88D

Stable Identifier
R-HSA-3229135
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Glucose-6-phosphate translocase G88D, G6PT1_HUMAN G88D
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
9758626 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, CD, Lee, PJ, Leonard, JV, Maire, I, McConkie-Rosell, A, Schweitzer, S, Vikkula, M, Van Schaftingen, E

Am. J. Hum. Genet. 1998
External Reference Information
External Reference
UniProt:O43826 SLC37A4
Gene Names
SLC37A4, G6PT, G6PT1, PRO0685, TRG19
Chain
chain:1-429
Reference Genes
BioGPS Gene:2542 SLC37A4
COSMIC (genes):SLC37A4 SLC37A4
CTD Gene:2542 SLC37A4
dbSNP Gene:2542 SLC37A4
ENSEMBL:ENSG00000281500 SLC37A4
ENSEMBL:ENSG00000281500 SLC37A4
HGNC:4061 SLC37A4
KEGG Gene (Homo sapiens):hsa:2542 SLC37A4
Monarch:2542 SLC37A4
NCBI Gene:2542 SLC37A4
OMIM:602671 SLC37A4
Reference Transcript
Other Identifiers
0004610114
11716064_a_at
11716065_at
11716066_x_at
11748938_a_at
11751032_a_at
11755494_a_at
202830_s_at
217289_s_at
2542
33921_at
3394094
3394095
3394097
3394098
3394099
3394101
3394102
3394103
3394104
3394105
3394106
3394108
3394109
3394113
3394114
3394120
7952132
A0A024R3H9
A0A024R3L1
A_23_P35970
AAC72916
AAD13111
AAD19898
AAF16691
AAF37735
AAF37736
AAH02400
AAH03589
AAH14663
AAH15650
AAH64563
AAS00495
AF078163
AF097831
AF110819
AF110820
AF111852
AF116862
AF116863
AF116864
AY423732
BC002400
BC003589
BC014663
BC015650
BC064563
CAA75608
CAA76898
CH471065
EAW67432
EAW67433
EAW67439
ENSG00000281500
ENSP00000486168
ENST00000631372
EntrezGene:2542
g4503846_3p_a_at
GE60324
GO:0003674
GO:0005215
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005783
GO:0005789
GO:0005975
GO:0006006
GO:0006094
GO:0006810
GO:0008150
GO:0008643
GO:0009058
GO:0015152
GO:0015297
GO:0015760
GO:0016020
GO:0016021
GO:0022857
GO:0030176
GO:0035435
GO:0043226
GO:0044281
GO:0055085
GO:0061513
HGNC:4061
HPA038939
HPA038940
Hs.242.1.S1_3p_s_at
ILMN_1678678
IPR000849
IPR011701
IPR020846
IPR021159
IPR036259
MIM:232220
MIM:232240
MIM:602671
NM_001164278
NP_001157750
PF07690
PH_hs_0031750
SLC37A4
SLC37A4-221
TC11002360.hg
UPI000002AA25
Y15409
Y17864
Participant Of
hasMember
Other forms of this molecule
SLC37A4 G20D [endoplasmic reticulum membrane]
SLC37A4 [endoplasmic reticulum membrane]
Modified Residues
Name
glycine 88 replaced with L-aspartic acid
Coordinate
88
PsiMod HEY
L-aspartic acid residue [MOD:00013]
A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
Disease
Name Identifier Synonyms
glycogen storage disease I 2749 deficiency of glucose-6-phosphatase, glycogenosis type I, von Gierke's disease, glycogen storage disease type I, Glycogen storage disease, type I (disorder), von Gierke disease
Cross References
RefSeq
ZINC - Substances
GeneCards
ZINC target
PRO
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q13323 BIK      0.488 2