Gene/Proteome Database (LMPD)
LMPD ID
LMP004676
Gene ID
Species
Homo sapiens (Human)
Gene Name
solute carrier family 33 (acetyl-CoA transporter), member 1
Gene Symbol
Synonyms
ACATN; AT-1; AT1; CCHLND; SPG42
Alternate Names
acetyl-coenzyme A transporter 1
Chromosome
3
Map Location
3q25.31
Summary
The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]
Orthologs
Proteins
| acetyl-coenzyme A transporter 1 | |
|---|---|
| Refseq ID | NP_001177921 |
| Protein GI | 300360496 |
| UniProt ID | O00400 |
| mRNA ID | NM_001190992 |
| Length | 549 |
| RefSeq Status | REVIEWED |
| MSPTISHKDSSRQRRPGNFSHSLDMKSGPLPPGGWDDSHLDSAGREGDREALLGDTGTGDFLKAPQSFRAELSSILLLLFLYVLQGIPLGLAGSIPLILQSKNVSYTDQAFFSFVFWPFSLKLLWAPLVDAVYVKNFGRRKSWLVPTQYILGLFMIYLSTQVDRLLGNTDDRTPDVIALTVAFFLFEFLAATQDIAVDGWALTMLSRENVGYASTCNSVGQTAGYFLGNVLFLALESADFCNKYLRFQPQPRGIVTLSDFLFFWGTVFLITTTLVALLKKENEVSVVKEETQGITDTYKLLFAIIKMPAVLTFCLLILTAKIGFSAADAVTGLKLVEEGVPKEHLALLAVPMVPLQIILPLIISKYTAGPQPLNTFYKAMPYRLLLGLEYALLVWWTPKVEHQGGFPIYYYIVVLLSYALHQVTVYSMYVSIMAFNAKVSDPLIGGTYMTLLNTVSNLGGNWPSTVALWLVDPLTVKECVGASNQNCRTPDAVELCKKLGGSCVTALDGYYVESIICVFIGFGWWFFLGPKFKKLQDEGSSSWKCKRNN | |
Gene Information
Entrez Gene ID
Gene Name
solute carrier family 33 (acetyl-CoA transporter), member 1
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0000139 | TAS:Reactome | C | Golgi membrane |
| GO:0005789 | TAS:ProtInc | C | endoplasmic reticulum membrane |
| GO:0005887 | TAS:ProtInc | C | integral component of plasma membrane |
| GO:0016020 | IDA:UniProtKB | C | membrane |
| GO:0008521 | TAS:ProtInc | F | acetyl-CoA transporter activity |
| GO:0015876 | TAS:GOC | P | acetyl-CoA transport |
| GO:0008219 | IEA:UniProtKB-KW | P | cell death |
| GO:0055085 | TAS:Reactome | P | transmembrane transport |
| GO:0006810 | TAS:ProtInc | P | transport |
KEGG Pathway Links
| KEGG Pathway ID | Description |
|---|---|
| hsa00604 | Glycosphingolipid biosynthesis - ganglio series |
| hsa01100 | Metabolic pathways |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_22285 | Transport of vitamins, nucleosides, and related molecules |
Domain Information
UniProt Annotations
Entry Information
Gene Name
solute carrier family 33 (acetyl-CoA transporter), member 1
Protein Entry
ACATN_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Disease | Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) [MIM |
| Disease | Spastic paraplegia 42, autosomal dominant (SPG42) [MIM |
| Function | Probable acetyl-CoA transporter necessary for O- acetylation of gangliosides. |
| Similarity | Belongs to the SLC33A transporter family. |
| Subcellular Location | Endoplasmic reticulum membrane ; Multi-pass membrane protein . |
| Tissue Specificity | Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. With strongest signals in pancreas. |
| Web Resource | Name=Mendelian genes solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/SLC33A1"; |
Identical and Related Proteins
Unique RefSeq proteins for LMP004676 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 300360496 | RefSeq | NP_001177921 | 549 | acetyl-coenzyme A transporter 1 |
Identical Sequences to LMP004676 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:300360496 | DBBJ | BAG35199.1 | 549 | unnamed protein product [Homo sapiens] |
| GI:300360496 | GenBank | EAW78744.1 | 549 | solute carrier family 33 (acetyl-CoA transporter), member 1, isoform CRA_a [Homo sapiens] |
| GI:300360496 | GenBank | ABM82633.1 | 549 | solute carrier family 33 (acetyl-CoA transporter), member 1 [synthetic construct] |
| GI:300360496 | GenBank | ABM85811.1 | 549 | solute carrier family 33 (acetyl-CoA transporter), member 1, partial [synthetic construct] |
| GI:300360496 | GenBank | AHD71912.1 | 549 | Sequence 6606 from patent US 8586006 |
| GI:300360496 | GenBank | AIC50295.1 | 549 | SLC33A1, partial [synthetic construct] |
Related Sequences to LMP004676 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:300360496 | GenBank | JAA06441.1 | 549 | solute carrier family 33 (acetyl-CoA transporter), member 1 [Pan troglodytes] |
| GI:300360496 | GenBank | JAA06442.1 | 549 | solute carrier family 33 (acetyl-CoA transporter), member 1 [Pan troglodytes] |
| GI:300360496 | GenBank | JAA15972.1 | 549 | solute carrier family 33 (acetyl-CoA transporter), member 1 [Pan troglodytes] |
| GI:300360496 | RefSeq | XP_003806140.1 | 549 | PREDICTED: acetyl-coenzyme A transporter 1 [Pan paniscus] |
| GI:300360496 | RefSeq | XP_008976669.1 | 549 | PREDICTED: acetyl-coenzyme A transporter 1 [Pan paniscus] |
| GI:300360496 | RefSeq | XP_009445001.1 | 549 | PREDICTED: acetyl-coenzyme A transporter 1 isoform X1 [Pan troglodytes] |