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ATP-binding cassette sub-family D member 1
Summary
- UniProt ID
- P33897
- Gene Symbol
-
- ABCD1
- ALD
- Gene ID
- 215
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- ATP-binding
- Disease variant
- Endoplasmic reticulum
- Glycoprotein
- Hydrolase
- Lysosome
- Mitochondrion
- Peroxisome
- Phosphoprotein
- Reference proteome
- Translocase
- Transmembrane helix
- Transport
- Gene Ontology (GO)
| GO Term |
|---|
| cytoplasm |
| membrane |
| mitochondrial membrane |
| endoplasmic reticulum membrane |
| cytosol |
| perinuclear region of cytoplasm |
| lysosomal membrane |
| peroxisome |
| peroxisomal membrane |
| GO Term |
|---|
| acyl-CoA hydrolase activity |
| very long chain acyl-CoA hydrolase activity |
Sequence
MPVLSRPRPWRGNTLKRTAVLLALAAYGAHKVYPLVRQCLAPARGLQAPAGEPTQEASGVAAAKAGMNRVFLQRLLWLLRLLFPRVLCRETGLLALHSAALVSRTFLSVYVARLDGRLARCIVRKDPRAFGWQLLQWLLIALPATFVNSAIRYLEGQLALSFRSRLVAHAYRLYFSQQTYYRVSNMDGRLRNPDQSLTEDVVAFAASVAHLYSNLTKPLLDVAVTSYTLLRAARSRGAGTAWPSAIAGLVVFLTANVLRAFSPKFGELVAEEARRKGELRYMHSRVVANSEEIAFYGGHEVELALLQRSYQDLASQINLILLERLWYVMLEQFLMKYVWSASGLLMVAVPIITATGYSESDAEAVKKAALEKKEEELVSERTEAFTIARNLLTAAADAIERIMSSYKEVTELAGYTARVHEMFQVFEDVQRCHFKRPRELEDAQAGSGTIGRSGVRVEGPLKIRGQVVDVEQGIICENIPIVTPSGEVVVASLNIRVEEGMHLLITGPNGCGKSSLFRILGGLWPTYGGVLYKPPPQRMFYIPQRPYMSVGSLRDQVIYPDSVEDMQRKGYSEQDLEAILDVVHLHHILQREGGWEAMCDWKDVLSGGEKQRIGMARMFYHRPKYALLDECTSAVSIDVEGKIFQAAKDAGIALLSITHRPSLWKYHTHLLQFDGEGGWKFEKLDSAARLSLTEEKQRLEQQLAGIPKMQRRLQELCQILGEAVAPAHVPAPSPQGPGGLQGAST
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 214 | N-linked (GlcNAc...) asparagine |
|
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| ABC transporters in lipid homeostasis | Homo sapiens |
| Beta-oxidation of very long chain fatty acids | Homo sapiens |
| Class I peroxisomal membrane protein import | Homo sapiens |
| Defective ABCD1 causes ALD | Homo sapiens |
| Linoleic acid (LA) metabolism | Homo sapiens |
| alpha-linolenic acid (ALA) metabolism | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:10588 | adrenoleukodystrophy |
