SLC33A1 Y366* [Golgi membrane]

Stable Identifier
R-HSA-5649750
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Acetyl-coenzyme A transporter 1, ACATN_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
SLC33A1, ACATN, AT1
Chain
chain:1-549
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
Other forms of this molecule
Modified Residues
Name
Nonsense mutation at L-tyrosine 366
Coordinate
366
PsiMod
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
Guide to Pharmacology - Targets
OpenTargets
GeneCards
PRO
Pharos - Targets
Orphanet
HMDB Protein
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