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SLC35A3 S296G [Golgi membrane]
Stable Identifier
R-HSA-5653584
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
UDP-N-acetylglucosamine transporter, S35A3_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) (Homo sapiens)
Defective SLC35A3 does not exchange UDP-GlcNAc for UMP (Homo sapiens)
SLC35A3 mutants [Golgi membrane] (Homo sapiens)
SLC35A3 S296G [Golgi membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9Y2D2 SLC35A3
Gene Names
SLC35A3
Chain
chain:1-325
Reference Genes
BioGPS Gene:23443 SLC35A3
COSMIC (genes):SLC35A3 SLC35A3
CTD Gene:23443 SLC35A3
dbSNP Gene:23443 SLC35A3
ENSEMBL:ENSG00000117620 SLC35A3
HGNC:11023 SLC35A3
KEGG:hsa:23443 SLC35A3
Monarch:23443 SLC35A3
NCBI Gene:23443 SLC35A3
OMIM:605632 SLC35A3
UCSC:Q9Y2D2 SLC35A3
Reference Transcript
RefSeq:NM_012243.2 SLC35A3
RefSeq:XM_005270691.4 SLC35A3
RefSeq:XM_011541136.2 SLC35A3
RefSeq:NM_001271685.1 SLC35A3
RefSeq:NM_001271684.1 SLC35A3
Other Identifiers
11730455_a_at
11762508_x_at
16667590
206770_PM_s_at
206770_s_at
209865_PM_at
209865_at
226894_PM_at
226894_at
23443
2348703
2348704
2348705
2348706
2348707
2348708
2348709
2348710
2348711
2348712
2348714
2348718
2348719
2348720
2348721
2348722
2348724
2348727
2348728
2348729
2348731
2348732
2348733
2348734
2348735
2348736
2348737
2348744
2348746
2348748
2348750
2348752
2348754
2348756
2348758
2348759
2348760
2348761
2348762
2348763
2348764
2348765
2348766
238881_PM_at
238881_at
3159348
38208_at
65627_at
65628_at
77005_r_at
7903281
A_14_P134575
A_19_P00807008
A_23_P34460
A_24_P68153
A_33_P3383331
GE499987
GE53596
GE835320
GE876427
GO:0000139
GO:0005215
GO:0005459
GO:0005462
GO:0005515
GO:0005794
GO:0006047
GO:0015165
GO:0015297
GO:0016020
GO:0043226
GO:0055085
GO:0055086
GO:0090481
GO:0097624
GO:1901135
GO:1990569
HMNXSV003036133
Hs.126658.0.A1_3p_at
Hs.28803.0.A1_3p_at
ILMN_1653429
PH_hs_0007206
PH_hs_0026233
TC01000896.hg
TC01004563.hg
g6912667_3p_a_at
p1076
Participates
as a member of
SLC35A3 mutants [Golgi membrane] (Homo sapiens)
Other forms of this molecule
SLC35A3 Q172* [Golgi membrane]
SLC35A3 [Golgi membrane]
Modified Residues
Name
L-serine 296 replaced with glycine
Coordinate
296
PsiMod
L-serine removal [MOD:01646]
A protein modification that effectively removes or replaces an L-serine.
glycine residue [MOD:00017]
A protein modification that effectively converts a source amino acid residue to a glycine.
Disease
Name
Identifier
Synonyms
developmental disorder of mental health
DOID:0060037
epilepsy syndrome
DOID:1826
epilepsy, epileptic syndrome
distal arthrogryposis
DOID:0050646
Sheldon-Hall syndrome, Freeman-Sheldon syndrome variant, Arthrogryposis Multiplex Congenita, Freeman-Sheldon syndrome
Cross References
Guide to Pharmacology - Targets
1140
ENSEMBL
ENST00000533028
,
ENSP00000433849
,
ENSP00000491145
,
ENST00000427993
,
ENSP00000359172
,
ENST00000370153
,
ENSP00000414947
,
ENST00000465289
,
ENST00000638336
,
ENSP00000418527
OpenTargets
ENSG00000117620
HPA
ENSG00000117620-SLC35A3
PRO
Q9Y2D2
Pharos - Targets
Q9Y2D2
GlyGen
Q9Y2D2
Orphanet
SLC35A3
HMDB Protein
HMDBP02975
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P78381-1 SLC35A2
0.471
3
UniProt:P78381-2 SLC35A2
0.471
2
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