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SLC37A4 G20D
Stable Identifier
R-HSA-3229123
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Glucose-6-phosphate translocase G20D, G6PT1_HUMAN G20D
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of carbohydrate metabolism (Homo sapiens)
Glycogen storage diseases (Homo sapiens)
Glycogen storage disease type Ib (SLC37A4) (Homo sapiens)
Defective SLC37A4 does not exchange G6P and Pi across the ER membrane (Homo sapiens)
SLC37A4 mutants [endoplasmic reticulum membrane] (Homo sapiens)
SLC37A4 G20D [endoplasmic reticulum membrane] (Homo sapiens)
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
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):hsa:2542 SLC37A4
Monarch:2542 SLC37A4
NCBI Gene:2542 SLC37A4
OMIM:602671 SLC37A4
Reference Transcript
RefSeq:NM_001164278.1 SLC37A4
RefSeq:NM_001467.5 SLC37A4
RefSeq:NM_001164280.1 SLC37A4
RefSeq:NM_001164277.1 SLC37A4
RefSeq:NM_001164279.1 SLC37A4
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
7952132
A_23_P35970
B4DUH2
ENSG00000281500
ENSP00000486168
ENST00000631372
EntrezGene:2542
g4503846_3p_a_at
GE60324
GO:0005215
GO:0005783
GO:0005789
GO:0006006
GO:0006094
GO:0006810
GO:0008643
GO:0015152
GO:0015297
GO:0015760
GO:0016020
GO:0016021
GO:0030176
GO:0035435
GO:0055085
GO:0061513
HGNC:4061
Hs.242.1.S1_3p_s_at
ILMN_1678678
MIM:232220
MIM:232240
MIM:602671
NM_001164277
NM_001164278
NM_001164279
NM_001164280
NM_001467
NP_001157749
NP_001157750
NP_001157751
NP_001157752
NP_001458
PF07690
PH_hs_0031750
SLC37A4
SLC37A4-221
TC11002360.hg
UPI00017A7EAD
Participant Of
hasMember
SLC37A4 mutants [endoplasmic reticulum membrane]
Other forms of this molecule
SLC37A4 G88D [endoplasmic reticulum membrane]
SLC37A4 [endoplasmic reticulum membrane]
Modified Residues
Name
glycine 20 replaced with L-aspartic acid
Coordinate
20
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
NP_001157749.1
,
NP_001157751.1
,
NP_001157752.1
,
NP_001157750.1
,
NP_001458.1
GeneCards
O43826
ZINC - Substances
G6PT1_HUMAN
ZINC target
O43826
PRO
O43826
ZINC - Predictions - Purchasable
G6PT1_HUMAN
Orphanet
15463
HMDB Protein
HMDBP01890
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q13323 BIK
0.488
2
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