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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
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 Q172* [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
ENSEMBL_homo_sapiens_GENE: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
RefSeq:NM_012243.2 SLC35A3
RefSeq:XM_011541136.2 SLC35A3
RefSeq:XM_005270691.4 SLC35A3
RefSeq:NM_001271685.1 SLC35A3
RefSeq:NM_001271684.1 SLC35A3
Other Identifiers
0003520170
11730455_a_at
11762508_x_at
15253
16667590
206770_s_at
209865_at
226894_at
23443
2348705
2348706
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
238881_at
3159348
38208_at
65627_at
65628_at
77005_r_at
7903281
A0A1C7CYW3
A0A1W2PNF0
A0A1W2PNY6
A0A1W2PP85
A0A1W2PPH4
A0A1W2PPW2
A0A1W2PQ60
A0A1W2PQH2
A0A1W2PQL8
A0A1W2PR66
A0A1W2PRN3
A0A1W2PRT7
A_14_P134575
A_19_P00807008
A_23_P34460
A_24_P68153
A_33_P3383331
AAH05136
BAA77841
BAF83262
CAH18676
CCDS60204
CCDS60205
CCDS762
E9PPQ9
EAW72977
EAW72978
EAW72979
ENSG00000117620
ENSP00000359172
ENSP00000414947
ENSP00000418527
ENSP00000433849
ENSP00000491145
ENST00000370153
ENST00000427993
ENST00000465289
ENST00000533028
ENST00000638336
EntrezGene:23443
g6912667_3p_a_at
GE499987
GE53596
GE835320
GE876427
GO:0000139
GO:0003674
GO:0005462
GO:0005515
GO:0005575
GO:0005622
GO:0005623
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:0090481
GO:1990569
HGNC:11023
HPA015253
Hs.126658.0.A1_3p_at
Hs.28803.0.A1_3p_at
ILMN_1653429
IPR007271
MIM:605632
MIM:615553
NM_001271684
NM_001271685
NM_012243
NP_001258613
NP_001258614
NP_036375
PF04142
PH_hs_0007206
PH_hs_0026233
SLC35A3
SLC35A3-201
SLC35A3-204
SLC35A3-205
SLC35A3-207
SLC35A3-208
TC01000896.hg
TC01004563.hg
uc001dsp.3
uc001dsr.3
uc009wdy.3
uc057ipu.1
uc057ipv.1
UPI00000727B3
UPI0000137AF2
UPI0000425C60
XM_005270691
XM_011541135
XM_011541136
XM_011541138
XM_017000872
XP_005270748
XP_011539437
XP_011539438
XP_011539440
Participant Of
hasMember
SLC35A3 mutants [Golgi membrane]
Other forms of this molecule
SLC35A3 S296G [Golgi membrane]
SLC35A3 [Golgi membrane]
Modified Residues
Name
L-glutamine 172 replaced with unknown
Coordinate
172
PsiMod
L-glutamine removal [MOD:01637]
A protein modification that effectively removes or replaces an L-glutamine.
Disease
Name
Identifier
Synonyms
epilepsy syndrome
1826
epilepsy, epileptic syndrome
developmental disorder of mental health
0060037
distal arthrogryposis
0050646
Sheldon-Hall syndrome, Freeman-Sheldon syndrome variant, Arthrogryposis Multiplex Congenita, Freeman-Sheldon syndrome
Cross References
RefSeq
NP_001258614.1
,
XP_005270748.1
,
NP_036375.1
,
XP_011539438.1
,
NP_001258613.1
OpenTargets
ENSG00000117620
GeneCards
Q9Y2D2
PRO
Q9Y2D2
Orphanet
22522
HMDB Protein
HMDBP02975
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P78381-1 SLC35A2
0.524
3
UniProt:P78381-2 SLC35A2
0.524
2
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