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
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
HGNC:4061 SLC37A4
KEGG Gene (Homo sapiens):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
16745159
202830_s_at
217289_s_at
2542
33921_at
3394093
3394094
3394095
3394097
3394099
3394101
3394102
3394103
3394104
3394105
3394106
3394108
3394109
3394113
3394114
3394117
3394118
3394119
3394120
7952132
A_23_P35970
GE60324
GO:0003674
GO:0005515
GO:0005575
GO:0005622
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
Hs.242.1.S1_3p_s_at
ILMN_1678678
PH_hs_0031750
TC11002360.hg
g4503846_3p_a_at
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
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
OpenTargets
ZINC - Substances
GeneCards
ZINC target
Ensembl
PRO
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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