Reactome | SLC35A1 V93Cfs*17 [Golgi membrane]

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 for interactor UniProt:Q9Y676 MRPS18B

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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

ENSEMBL_homo_sapiens_GENE:ENSG00000164414.19 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

10559

11744028_a_at

11755739_a_at

17010851

203306_PM_s_at

203306_s_at

2916347

2916349

2916360

2916361

2916363

2916365

2916370

2916371

2916372

2916375

2916378

2916379

2916380

2916381

2916382

2916383

37895_at

8121031

A_23_P58912

A_24_P406034

A_33_P3394710

D87969_at

GE62086

GO:0000139

GO:0005215

GO:0005456

GO:0005515

GO:0005794

GO:0005886

GO:0005975

GO:0008643

GO:0015165

GO:0015297

GO:0015782

GO:0016020

GO:0036211

GO:0043226

GO:0055085

GO:0090481

HMNXSV003023515

ILMN_1741440

PH_hs_0031366

TC06004096.hg

g5453620_3p_a_at

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	DOID:0050571

Cross References

RefSeq

NP_001161870.1, NP_006407.1

Guide to Pharmacology - Targets

1138

OpenTargets

ENSG00000164414

GeneCards

P78382

HPA

ENSG00000164414-SLC35A1

Ensembl

ENST00000369556, ENST00000369552, ENSP00000358565, ENSG00000164414, ENSP00000358569

PRO

P78382

Pharos - Targets

P78382

Orphanet

16875

HMDB Protein

HMDBP11932

Interactors (34)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q8NC24 RELL2			0.556	3
UniProt:Q8TBE3 FNDC9			0.556	3
UniProt:Q14802-3 FXYD3			0.556	3
UniProt:Q8NI22 MCFD2	3	MCFD2 [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-HSA-5689836) MCFD2 [ER to Golgi transport vesicle membrane] (R-HSA-1017216) MCFD2 [endoplasmic reticulum membrane] (R-HSA-5689470)	0.556	3
UniProt:O00559 EBAG9	1	EBAG9 [Golgi membrane] (R-HSA-9018507)	0.556	3
UniProt:P57738 TCTA			0.556	3
UniProt:Q8IV31 TM139			0.556	3
UniProt:Q8WWH4 ASZ1	1	ASZ1 [cytosol] (R-HSA-5603069)	0.556	3
UniProt:Q8WWF3 SSMM1			0.556	3
UniProt:P43005 SLC1A1	4	SLC1A1 I395del [plasma membrane] (R-HSA-5625023) SLC1A1 84kb_del [plasma membrane] (R-HSA-5625040) SLC1A1 R445W [plasma membrane] (R-HSA-5625045) SLC1A1 [plasma membrane] (R-HSA-210414)	0.556	3
UniProt:P07307-3 ASGR2			0.556	3
UniProt:Q9Y320 TMX2			0.556	3
UniProt:Q96FE7 P3IP1			0.556	3
IntAct:EBI-23641393 CCSB ORF ID			0.556	3
UniProt:Q9Y282 ERGI3			0.556	3
UniProt:Q8TED1 GPX8	1	GPX8 [endoplasmic reticulum lumen] (R-HSA-3341303)	0.556	3
UniProt:Q8TAF8 LHFPL5	1	LHFPL5 [plasma membrane] (R-HSA-9658860)	0.556	3
UniProt:O95436-2 SLC34A2			0.556	3
UniProt:Q5VZY2 PLPP4	1	PPAPDC1A [plasma membrane] (R-HSA-2029082)	0.556	3
UniProt:Q9Y624 F11R	2	F11R [cell junction] (R-HSA-2134498) F11R [plasma membrane] (R-HSA-197845)	0.556	3
UniProt:Q3SXY8 ARL13B	8	PolyUb-Misfolded ARL13B [lysosomal lumen] (R-HSA-9660004) PolyUb-Misfolded ARL13B [cytosol] (R-HSA-9641129) Ub-Misfolded ARL13B [cytosol] (R-HSA-9641119) Misfolded ARL13B [cytosol] (R-HSA-9640110) Misfolded ARL13B [cilium] (R-HSA-9640116) ARL13B [cilium] (R-HSA-5618181) PolyUb-Misfolded ARL13B [late endosome lumen] (R-HSA-9659986) ARL13B [plasma membrane] (R-HSA-9716787)	0.556	3
UniProt:Q8N743 KI3L3			0.556	3
UniProt:Q9Y676 MRPS18B	1	MRPS18B [mitochondrial inner membrane] (R-HSA-5368234)	0.556	3
UniProt:Q9BXK5 B2L13			0.556	3
UniProt:Q13520 AQP6	1	AQP6 [transport vesicle membrane] (R-HSA-431741)	0.556	3
UniProt:Q9NR31 SAR1A			0.556	3
UniProt:Q8N9I0 SYT2	3	SYT2 [clathrin-coated endocytic vesicle membrane] (R-HSA-8869116) SYT2 [plasma membrane] (R-HSA-168795) SYT2 [synaptic vesicle membrane] (R-HSA-194786)	0.556	3
UniProt:P19397 CD53	3	CD53 [specific granule membrane] (R-HSA-6804793) CD53 [plasma membrane] (R-HSA-6804817) CD53 [tertiary granule membrane] (R-HSA-6804799)	0.556	3
UniProt:O15393-2 TMPRSS2			0.556	3
UniProt:Q5JX71 F209A			0.556	3
UniProt:Q7Z7G2 CPLX4			0.556	3
UniProt:O14880 MGST3	1	MGST3 [endoplasmic reticulum membrane] (R-HSA-176053)	0.556	3
UniProt:A0A0S2Z4U3 A0A0S2Z4U3			0.556	3
UniProt:Q9HA82 CERS4	1	CERS4 [endoplasmic reticulum membrane] (R-HSA-428138)	0.556	3

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