SLC33A1
entrez
9197
canonical
uniprot
O00400
canonical
ensembl
ENSG00000169359
resolver
ensp
ENSP00000352456
resolver
ensp
ENSP00000418847
resolver
ensp
ENSP00000494476
resolver
ensp
ENSP00000494846
resolver
ensp
ENSP00000496241
resolver
ensp
ENSP00000676801
resolver
ensp
ENSP00000676802
resolver
enst
ENST00000359479
resolver
enst
ENST00000468581
resolver
enst
ENST00000643144
resolver
enst
ENST00000644094
resolver
enst
ENST00000646424
resolver
genesymbol
SLC33A1
resolver
genesymbol_syn
ACATN
resolver
genesymbol_syn
AT1
resolver
hgnc
HGNC:95
resolver
uniprot
A0A2R8Y5I5
resolver
uniprot
A0A2R8YF57
resolver
uniprot
B2R5Q2
resolver
uniprot
D3DNK4
resolver
uniprot
H7C532
resolver
uniprot_entry
A0A2R8Y5I5_HUMAN
resolver
uniprot_entry
A0A2R8YF57_HUMAN
resolver
uniprot_entry
ACATN_HUMAN
resolver
uniprot_entry
H7C532_HUMAN
resolver
uniprot_sec
B2R5Q2
resolver
uniprot_sec
D3DNK4
resolver
amino_acid_sequence
MSPTISHKDSSRQRRPGNFSHSLDMKSGPLPPGGWDDSHLDSAGREGDREALLGDTGTGDFLKAPQSFRAELSSILLLLFLYVLQGIPLGLAGSIPLILQSKNVSYTDQAFFSFVFWPFSLKLLWAPLVDAVYVKNFGRRKSWLVPTQYILGLFMIYLSTQVDRLLGNTDDRTPDVIALTVAFFLFEFLAATQDIAVDGWALTMLSRENVGYASTCNSVGQTAGYFLGNVLFLALESADFCNKYLRFQPQPRGIVTLSDFLFFWGTVFLITTTLVALLKKENEVSVVKEETQGITDTYKLLFAIIKMPAVLTFCLLILTAKIGFSAADAVTGLKLVEEGVPKEHLALLAVPMVPLQIILPLIISKYTAGPQPLNTFYKAMPYRLLLGLEYALLVWWTPKVEHQGGFPIYYYIVVLLSYALHQVTVYSMYVSIMAFNAKVSDPLIGGTYMTLLNTVSNLGGNWPSTVALWLVDPLTVKECVGASNQNCRTPDAVELCKKLGGSCVTALDGYYVESIICVFIGFGWWFFLGPKFKKLQDEGSSSWKCKRNN
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 42, autosomal dominant (SPG42) [MIM:612539]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269|PubMed:19061983, ECO:0000269|PubMed:24828632, ECO:0000269|PubMed:25402622}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Huppke-Brendel syndrome (HPBDS) [MIM:614482]: An autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination. {ECO:0000269|PubMed:22243965}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acetyl-CoA transporter that mediates active acetyl-CoA import through the endoplasmic reticulum (ER) membrane into the ER lumen where specific ER-based acetyl-CoA:lysine acetyltransferases are responsible for the acetylation of ER-based protein substrates, such as BACE1 (PubMed:20826464, PubMed:24828632). Necessary for O-acetylation of gangliosides (PubMed:9096318). {ECO:0000269|PubMed:20826464, ECO:0000269|PubMed:24828632, ECO:0000269|PubMed:25402622, ECO:0000269|PubMed:9096318}.
uniprot
proteins
mass_dalton
60909
uniprot
proteins
protein_family
SLC33A transporter family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19061983
uniprot
proteins
pubmed
20826464
uniprot
proteins
pubmed
22243965
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24828632
uniprot
proteins
pubmed
25402622
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
9096318
uniprot
proteins
sequence_length
549
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:20826464, ECO:0000269|PubMed:24828632}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 75..95; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 114..134; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 142..162; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 176..196; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 218..238; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 257..277; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 300..320; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 344..364; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 379..398; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 405..425; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 509..529; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins