SLC35A2 V331I [Golgi membrane]

Stable Identifier
R-HSA-5652093
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
UDP-galactose translocator, S35A2_HUMAN
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:P78381 SLC35A2
Gene Names
SLC35A2, UGALT, UGT, UGTL
Chain
chain:1-396
Reference Genes
BioGPS Gene:7355 SLC35A2
COSMIC (genes):SLC35A2 SLC35A2
CTD Gene:7355 SLC35A2
dbSNP Gene:7355 SLC35A2
ENSEMBL:ENSG00000102100 SLC35A2
HGNC:11022 SLC35A2
KEGG Gene (Homo sapiens):7355 SLC35A2
Monarch:7355 SLC35A2
NCBI Gene:7355 SLC35A2
OMIM:314375 SLC35A2
UCSC:P78381 SLC35A2
Reference Transcript
Other Identifiers
0004060497
11717420_a_at
11717421_a_at
11731249_a_at
11739707_a_at
11752728_x_at
17110654
207439_3p_s_at
207439_s_at
207440_at
209326_at
34229_s_at
34230_r_at
4007587
4007589
4007590
4007591
4007592
4007593
4007594
4007595
4007596
4007597
4007598
4007599
4007600
4007602
4007604
4007609
4007610
4007611
4007612
4007616
7355
8172460
A_23_P217208
A_24_P310616
A_33_P3261737
D84454_at
D88146_at
GE57350
GE81538
GO:0000139
GO:0003674
GO:0005459
GO:0005575
GO:0005622
GO:0005634
GO:0005654
GO:0005737
GO:0005783
GO:0005794
GO:0005975
GO:0006012
GO:0006810
GO:0008150
GO:0008643
GO:0015165
GO:0016020
GO:0016021
GO:0022857
GO:0030173
GO:0043226
GO:0044281
GO:0055085
GO:0072334
GO:0090481
ILMN_1742731
ILMN_1792135
ILMN_1798885
PH_hs_0001903
PH_hs_0035386
TC0X001019.hg
g1526437_3p_at
g5032210_3p_a_at
g5032210_3p_at
Participant Of
hasMember
Other forms of this molecule
SLC35A2 F324Lfs*25 [Golgi membrane]
SLC35A2 G8Sfs*9 [Golgi membrane]
SLC35A2 Y145Pfs*76 [Golgi membrane]
SLC35A2 M1? [Golgi membrane]
SLC35A2 [Golgi membrane]
Modified Residues
Name
L-valine 331 replaced with L-isoleucine
Coordinate
331
PsiMod
L-valine removal [MOD:01650]
A protein modification that effectively removes or replaces an L-valine.
L-isoleucine residue [MOD:00019]
A protein modification that effectively converts a source amino acid residue to an L-isoleucine.
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type II 0050571
Cross References
RefSeq
OpenTargets
GeneCards
HPA
Ensembl
PRO
Orphanet
Interactors (2)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 IntAct:EBI-10171679 386682      0.556 3
 UniProt:O15162 PLS1      0.553 2
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