SLC37A4 G88D [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-3229135
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Glucose-6-phosphate translocase G88D, G6PT1_HUMAN G88D
Icon
SLC37A4 G88D [endoplasmic reticulum membrane] icon
SLC37A4 G88D [endoplasmic reticulum membrane] icon
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

Fenske, CD, Chen, Y-T, Leonard, JV, Schweitzer, S, de Barsy, T, Maire, I, Lee, PJ, de Lonlay, P, Vikkula, M, McConkie-Rosell, A, Gerin, I, Dionisi-Vici, C, Veiga-da-Cunha, 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
HGNC:4061 SLC37A4
KEGG:hsa:2542 SLC37A4
Monarch:2542 SLC37A4
NCBI Gene:2542 SLC37A4
OMIM:602671 SLC37A4
UCSC:O43826 SLC37A4
Reference Transcript
Other Identifiers
11716064_a_at
11716065_at
11716066_x_at
11748938_a_at
11751032_a_at
11755494_a_at
16745159
202830_PM_s_at
202830_s_at
217289_PM_s_at
217289_s_at
2542
33921_at
3394091
3394093
3394094
3394095
3394096
3394097
3394098
3394099
3394100
3394101
3394102
3394103
3394104
3394105
3394106
3394107
3394108
3394109
3394110
3394111
3394112
3394113
3394114
3394115
3394116
3394117
3394118
3394119
3394120
7952132
A_23_P35970
GE60324
GO:0005215
GO:0005515
GO:0005783
GO:0005789
GO:0005975
GO:0006006
GO:0006094
GO:0015152
GO:0015297
GO:0015760
GO:0016020
GO:0022857
GO:0031090
GO:0035435
GO:0042593
GO:0043226
GO:0055085
GO:0061513
HMNXSV003021942
Hs.242.1.S1_3p_s_at
ILMN_1678678
PH_hs_0031750
TC11002360.hg
g4503846_3p_a_at
p2530
p2531
p2532
p33387
p33388
Participates
as a member of
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
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
L-aspartic acid residue [MOD:00013]
A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.
Disease
Name Identifier Synonyms
glycogen storage disease I DOID: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
Guide to Pharmacology - Targets
ENSEMBL
OpenTargets
ZINC - Substances
ZINC target
PRO
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q13323 BIK      0.556 3
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