SLC35A2 V331I

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):hsa: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
36087
7355
8172460
A_23_P217208
A_24_P310616
A_33_P3261737
AAH35747
AB042425
AF207550
AK290284
AK292816
AK293415
AK298484
B4DE15
B4DSH7
BAA12673
BAA13545
BAA95614
BAA95615
BAF82973
BAF85505
BAG56922
BAG60694
BC035747
CCDS14311
CCDS35247
CCDS43937
CCDS65253
CCDS65254
CH471224
D84454
D84454_at
D88146
D88146_at
EAW50733
EAW50734
ENSG00000102100
ENSP00000247138
ENSP00000365704
ENSP00000402726
ENSP00000416002
ENSP00000489197
ENSP00000489484
ENST00000247138
ENST00000376521
ENST00000445167
ENST00000452555
ENST00000635285
ENST00000635589
EntrezGene:7355
g1526437_3p_at
g5032210_3p_a_at
g5032210_3p_at
GE57350
GE81538
GO:0000139
GO:0005351
GO:0005459
GO:0005634
GO:0005783
GO:0005794
GO:0006012
GO:0006810
GO:0008643
GO:0015785
GO:0015992
GO:0016020
GO:0016021
GO:0072334
HGNC:11022
HPA036087
ILMN_1742731
ILMN_1792135
ILMN_1798885
IPR007271
MIM:300896
MIM:314375
NM_001032289
NM_001042498
NM_001282649
NM_001282651
NM_005660
NP_001027460
NP_001035963
NP_001269578
NP_001269580
NP_005651
PF04142
PH_hs_0001903
PH_hs_0035386
SLC35A2
SLC35A2-201
SLC35A2-204
SLC35A2-207
SLC35A2-209
SLC35A2-215
SLC35A2-217
TC0X001019.hg
uc004dlo.4
uc004dlp.2
uc004dlq.6
uc011mmm.2
uc011mmn.2
uc284raf.1
UPI000002B68C
UPI00000746BA
UPI0000137AEA
UPI0000E25D09
UPI00017A6C35
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 HEY
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
GeneCards
PRO
Orphanet
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 IntAct:EBI-10171679 386682      0.556 3