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SLC33A1 Y366* [Golgi membrane]
Stable Identifier
R-HSA-5649750
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
Acetyl-coenzyme A transporter 1, ACATN_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC33A1 causes spastic paraplegia 42 (SPG42) (Homo sapiens)
Defective SLC33A1 does not transport Ac-CoA from cytosol to Golgi lumen (Homo sapiens)
SLC33A1 mutants [Golgi membrane] (Homo sapiens)
SLC33A1 Y366* [Golgi membrane] (Homo sapiens)
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
ENSEMBL_homo_sapiens_GENE:ENSG00000169359.16 SLC33A1
HGNC:95 SLC33A1
KEGG Gene (Homo sapiens):9197 SLC33A1
Monarch:9197 SLC33A1
NCBI Gene:9197 SLC33A1
OMIM:603690 SLC33A1
UCSC:O00400 SLC33A1
Reference Transcript
RefSeq:NM_001190992.1 SLC33A1
RefSeq:NM_004733.3 SLC33A1
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
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:0005794
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 S113R [Golgi membrane]
SLC33A1 [Golgi membrane]
Modified Residues
Name
Nonsense mutation at L-tyrosine 366
Coordinate
366
PsiMod
L-tyrosine removal [MOD:01649]
A protein modification that effectively removes or replaces an L-tyrosine.
Disease
Name
Identifier
Synonyms
neurodegenerative disease
DOID:1289
degenerative disease, Neurodegenerative disease
cataract
DOID:83
sensorineural hearing loss
DOID:10003
Perceptive hearing loss, Perceptive deafness [diagnos], Perceptive hearing loss or deafness, high-frequency hearing loss, central hearing loss, sensorineural hearing loss, Sensorineural Deafness, High frequency deafness, Sensory hearing loss, High Frequency Hearing Loss
Cross References
RefSeq
NP_001177921.1
,
NP_004724.1
Guide to Pharmacology - Targets
1134
OpenTargets
ENSG00000169359
GeneCards
O00400
HPA
ENSG00000169359-SLC33A1
Ensembl
ENSP00000496241
,
ENSP00000352456
,
ENST00000359479
,
ENST00000643144
,
ENSG00000169359
PRO
O00400
Pharos - Targets
O00400
Orphanet
18122
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
PolyUb-CFTR [clathrin-coated endocytic vesicle membrane]
(R-HSA-8869104)
PolyUb-CFTR [plasma membrane]
(R-HSA-8867595)
CFTR [lysosomal membrane]
(R-HSA-5627279)
CFTR [Golgi-associated vesicle membrane]
(R-HSA-5627079)
CFTR [endosome membrane]
(R-HSA-6782965)
PolyUb-CFTR [endosome membrane]
(R-HSA-6782976)
CFTR F508del [endoplasmic reticulum membrane]
(R-HSA-8866834)
ub-CFTR F508del [cytosol]
(R-HSA-8866838)
ub-CFTR F508del [endoplasmic reticulum membrane]
(R-HSA-8866842)
CFTR G542* [plasma membrane]
(R-HSA-5678986)
CFTR G551D [plasma membrane]
(R-HSA-5678977)
CFTR W1282* [plasma membrane]
(R-HSA-5678976)
CFTR F508del [plasma membrane]
(R-HSA-5678978)
CFTR N1303K [plasma membrane]
(R-HSA-5678983)
CFTR [plasma membrane]
(R-HSA-383188)
CFTR [endoplasmic reticulum membrane]
(R-HSA-8866837)
misfolded CFTR [endoplasmic reticulum membrane]
(R-HSA-8868730)
0.519
6
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