SLC35A1 V93Cfs*17 [Golgi membrane]

Stable Identifier
R-HSA-5651957
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
CMP-sialic acid transporter, S35A1_HUMAN
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:P78382 SLC35A1
Gene Names
SLC35A1
Chain
chain:1-337
Reference Genes
BioGPS Gene:10559 SLC35A1
COSMIC (genes):SLC35A1 SLC35A1
CTD Gene:10559 SLC35A1
dbSNP Gene:10559 SLC35A1
ENSEMBL:ENSG00000164414 SLC35A1
HGNC:11021 SLC35A1
KEGG Gene (Homo sapiens):10559 SLC35A1
Monarch:10559 SLC35A1
NCBI Gene:10559 SLC35A1
OMIM:605634 SLC35A1
UCSC:P78382 SLC35A1
Reference Transcript
Other Identifiers
0004920408
10559
11744028_a_at
11755739_a_at
17010851
203306_s_at
2916347
2916349
2916360
2916361
2916363
2916365
2916370
2916371
2916372
2916375
2916378
2916379
2916380
2916381
2916382
2916383
37895_at
8121031
A0A087WVM1
A_23_P58912
A_24_P406034
A_33_P3394710
AAH17807
AJ851888
AL049697
BAA13522
BC017807
CAH65468
CCDS5010
CCDS55043
D87969
D87969_at
ENSG00000164414
ENSP00000358565
ENSP00000358569
ENST00000369552
ENST00000369552.8
ENST00000369556
ENST00000369556.7
EntrezGene:10559
EntrezGene:SLC35A1
g5453620_3p_a_at
GE62086
GO:0000139
GO:0003674
GO:0005456
GO:0005459
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005794
GO:0005886
GO:0005887
GO:0005975
GO:0006464
GO:0006810
GO:0008150
GO:0008643
GO:0015165
GO:0015297
GO:0015782
GO:0016020
GO:0016021
GO:0022857
GO:0030173
GO:0043226
GO:0055085
GO:0072334
GO:0090481
HGNC:11021
ILMN_1741440
IPR007271
MIM:603585
MIM:605634
NM_001168398
NM_006416
NP_001161870
NP_006407
PF04142
PH_hs_0031366
Q5W1L7
SLC35A1
SLC35A1-201
SLC35A1-202
TC06004096.hg
UPI0000127BDD
UPI00004523AF
Other forms of this molecule
SLC35A1 [Golgi membrane]
Modified Residues
Name
Replacement of residues 93 to 108 by CIVSVCCSEQHGFPSS
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type II 0050571
Cross References
RefSeq
OpenTargets
GeneCards
PRO
Orphanet
HMDB Protein
Interactors (26)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q8NC24 RELL2      0.488 2
 UniProt:Q8TBE3 FNDC9      0.488 2
 UniProt:Q9Y676 MRPS18B  1 0.488 2
 UniProt:Q9BXK5 B2L13      0.488 2
 UniProt:Q13520 AQP6  1 0.488 2
 UniProt:Q8N9I0 SYT2  3 0.488 2
 UniProt:Q9NR31 SAR1A      0.488 2
 UniProt:O15393-2 TMPRSS2      0.488 2
 UniProt:Q5JX71 F209A      0.488 2
 UniProt:Q7Z7G2 CPLX4      0.488 2
 UniProt:O14880 MGST3  1 0.488 2
 UniProt:Q3SXY8 ARL13B  7 0.488 2
 UniProt:A0A0S2Z4U3 A0A0S2Z4U3      0.488 2
 UniProt:Q9HA82 CERS4  1 0.488 2
 UniProt:Q5VZY2 PLPP4  1 0.488 2
 UniProt:Q8TED1 GPX8  1 0.488 2
 UniProt:Q9Y282 ERGI3      0.488 2
 UniProt:Q96FE7 P3IP1      0.488 2
 UniProt:P07307-3 ASGR2      0.488 2
 UniProt:Q8WWF3 SSMM1      0.488 2
 UniProt:Q8WWH4 ASZ1  1 0.488 2
 UniProt:Q9Y624 F11R  2 0.488 2
 UniProt:Q8IV31 TM139      0.488 2
 UniProt:P57738 TCTA      0.488 2
 UniProt:O00559 EBAG9  1 0.488 2
 UniProt:Q14802-3 FXYD3      0.488 2