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SLC35C1 F168del [Golgi membrane]
Stable Identifier
R-HSA-5653621
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
FUCT1, GDP-fucose transporter 1, FUCT1_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C) (Homo sapiens)
Defective SLC35C1 does not transport UDP-Fuc from cytosol to Golgi lumen (Homo sapiens)
SLC35C1 mutants [Golgi membrane] (Homo sapiens)
SLC35C1 F168del [Golgi membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q96A29 SLC35C1
Gene Names
SLC35C1, FUCT1
Chain
chain:1-364
Reference Genes
BioGPS Gene:55343 SLC35C1
COSMIC (genes):SLC35C1 SLC35C1
CTD Gene:55343 SLC35C1
dbSNP Gene:55343 SLC35C1
ENSEMBL:ENSG00000181830 SLC35C1
HGNC:20197 SLC35C1
KEGG Gene (Homo sapiens):55343 SLC35C1
Monarch:55343 SLC35C1
NCBI Gene:55343 SLC35C1
OMIM:605881 SLC35C1
UCSC:Q96A29 SLC35C1
Reference Transcript
RefSeq:NM_018389.4 SLC35C1
RefSeq:NM_001145265.1 SLC35C1
RefSeq:NM_001145266.1 SLC35C1
Other Identifiers
0004570600
11724276_a_at
11724277_a_at
16724178
218485_s_at
222647_at
3329019
3329020
3329021
3329022
3329023
3329025
3329026
3329027
3329028
3329030
55343
65152_at
76022_r_at
7939590
A_14_P110747
A_14_P111426
A_23_P202720
GE55537
GE82363
GO:0000139
GO:0003674
GO:0005338
GO:0005457
GO:0005575
GO:0005622
GO:0005737
GO:0005794
GO:0006464
GO:0006629
GO:0006810
GO:0007165
GO:0008150
GO:0008643
GO:0009058
GO:0015297
GO:0016020
GO:0016021
GO:0022857
GO:0030259
GO:0036066
GO:0036085
GO:0043226
GO:0045746
GO:0055085
ILMN_1680104
PH_hs_0028763
TC11000387.hg
g12655144_3p_at
g8922992_3p_a_at
Participant Of
hasMember
SLC35C1 mutants [Golgi membrane]
Other forms of this molecule
SLC35C1 E31* [Golgi membrane]
SLC35C1 T308* [Golgi membrane]
SLC35C1 R147C [Golgi membrane]
SLC35C1 [Golgi membrane]
Modified Residues
Name
Deletion of residues 168 to 168
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type II
0050571
Cross References
RefSeq
NP_060859.4
,
NP_001138738.1
,
NP_001138737.1
OpenTargets
ENSG00000181830
GeneCards
Q96A29
HPA
ENSG00000181830-SLC35C1
Ensembl
ENST00000442528
,
ENSG00000181830
,
ENSP00000412408
,
ENST00000314134
,
ENSP00000313318
PRO
Q96A29
Orphanet
15322
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