Reactome | SLC33A1 S113R [Golgi membrane]

SLC33A1 S113R [Golgi membrane]

Stable Identifier

R-HSA-5649751

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

Golgi membrane

Synonyms

Acetyl-coenzyme A transporter 1, ACATN_HUMAN

Locations in the PathwayBrowser

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External Reference Information

External Reference

UniProt:O00400 SLC33A1

Gene Names

SLC33A1, ACATN, AT1

Chain

chain:1-549

Reference Genes

BioGPS Gene:9197 SLC33A1

COSMIC (genes):SLC33A1 SLC33A1

CTD Gene:9197 SLC33A1

dbSNP Gene:9197 SLC33A1

ENSEMBL:ENSG00000169359 SLC33A1

HGNC:95 SLC33A1

KEGG:hsa:9197 SLC33A1

Monarch:9197 SLC33A1

NCBI Gene:9197 SLC33A1

OMIM:603690 SLC33A1

UCSC:O00400 SLC33A1

Reference Transcript

Other Identifiers

11729225_s_at

11759003_a_at

11759004_at

11759757_a_at

1554148_PM_a_at

1554148_a_at

16960752

203164_PM_at

203164_at

203165_PM_s_at

203165_s_at

243724_PM_at

243724_at

2701918

2701920

2701921

2701922

2701924

2701926

2701928

2701929

2701930

2701931

2701932

2701933

2701934

2701936

2701938

2701939

2701940

2701941

2701943

2701947

2701948

2701949

2701950

2701951

2701952

3143054

34668_at

45474_at

50226_at

53387_at

59254_at

80260_at

8091637

9197

A_23_P144188

A_33_P3251108

D88152_at

GE61749

GE814536

GO:0000139

GO:0005215

GO:0005515

GO:0005783

GO:0005789

GO:0005886

GO:0008521

GO:0016020

GO:0035348

GO:0042803

GO:0043226

GO:0055085

HMNXSV003010305

HMNXSV003030511

Hs.285176.0.A2_3p_at

Hs.294132.0.A1_3p_at

Hs2.285176.2.S1_3p_s_at

ILMN_1702683

PH_hs_0014767

TC03001929.hg

g6042194_3p_a_at

Participates

as a member of

SLC33A1 mutants [Golgi membrane] (Homo sapiens)

Other forms of this molecule

SLC33A1 A110P [Golgi membrane]

SLC33A1 Y366* [Golgi membrane]

SLC33A1 [Golgi membrane]

Modified Residues

Name

L-serine 113 replaced with L-arginine

Coordinate

113

PsiMod

L-serine removal [MOD:01646]

A protein modification that effectively removes or replaces an L-serine.

L-arginine residue [MOD:00011]

A protein modification that effectively converts a source amino acid residue to an L-arginine.

Disease

Name	Identifier	Synonyms
hereditary spastic paraplegia	DOID:2476	Hereditary spastic paraplegia, Hereditary spastic paraplegia, Hereditary spastic paraplegia (disorder), Hereditary spastic paraplegia, familial spastic paraplegia, HSMN V

Cross References

Guide to Pharmacology - Targets

1134

ENSEMBL

ENSP00000496241, ENST00000359479, ENST00000643144, ENSP00000352456

OpenTargets

ENSG00000169359

HPA

ENSG00000169359-SLC33A1

PRO

O00400

Pharos - Targets

O00400

GlyGen

O00400

Orphanet

SLC33A1

HMDB Protein

HMDBP03038

Interactors (2)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P35414 APLNR	1	APLNR [plasma membrane] (R-HSA-374259)	0.527	3
UniProt:P13569 CFTR	17	misfolded CFTR [endoplasmic reticulum membrane] (R-HSA-8868730) CFTR [endoplasmic reticulum membrane] (R-HSA-8866837) CFTR [plasma membrane] (R-HSA-383188) CFTR N1303K [plasma membrane] (R-HSA-5678983) CFTR F508del [plasma membrane] (R-HSA-5678978) CFTR W1282* [plasma membrane] (R-HSA-5678976) CFTR G551D [plasma membrane] (R-HSA-5678977) CFTR G542* [plasma membrane] (R-HSA-5678986) ub-CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866842) ub-CFTR F508del [cytosol] (R-HSA-8866838) CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866834) PolyUb-CFTR [endosome membrane] (R-HSA-6782976) CFTR [endosome membrane] (R-HSA-6782965) CFTR [Golgi-associated vesicle membrane] (R-HSA-5627079) CFTR [lysosomal membrane] (R-HSA-5627279) PolyUb-CFTR [plasma membrane] (R-HSA-8867595) PolyUb-CFTR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869104)	0.519	6