SLC35A3 Q172* [Golgi membrane]

Stable Identifier
R-HSA-5653611
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
UDP-N-acetylglucosamine transporter, S35A3_HUMAN
Locations in the PathwayBrowser
Expand all
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 Gene (Homo sapiens):23443 SLC35A3
Monarch:23443 SLC35A3
NCBI Gene:23443 SLC35A3
OMIM:605632 SLC35A3
UCSC:Q9Y2D2 SLC35A3
Reference Transcript
Other Identifiers
0003520170
11730455_a_at
11762508_x_at
16667590
206770_s_at
209865_at
226894_at
23443
2348707
2348708
2348709
2348710
2348711
2348712
2348714
2348719
2348720
2348721
2348724
2348727
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_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:0003674
GO:0005459
GO:0005462
GO:0005515
GO:0005575
GO:0005622
GO:0005737
GO:0005794
GO:0006047
GO:0006810
GO:0008150
GO:0008643
GO:0015165
GO:0016020
GO:0016021
GO:0022857
GO:0030173
GO:0034641
GO:0043226
GO:0044281
GO:0055085
GO:0072334
GO:0090481
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
Participates
as a member of
Other forms of this molecule
SLC35A3 S296G [Golgi membrane]
SLC35A3 [Golgi membrane]
Modified Residues
Name
Nonsense mutation at L-glutamine 172
Coordinate
172
PsiMod
L-glutamine removal [MOD:01637]
A protein modification that effectively removes or replaces an L-glutamine.
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
RefSeq
Guide to Pharmacology - Targets
OpenTargets
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
HMDB Protein
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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