Human Gene ABCD1 (ENST00000218104.6) from GENCODE V44
Description: Homo sapiens ATP binding cassette subfamily D member 1 (ABCD1), mRNA. (from RefSeq NM_000033) RefSeq Summary (NM_000033): The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000218104.6 Gencode Gene: ENSG00000101986.12 Transcript (Including UTRs) Position: hg38 chrX:153,724,856-153,744,755 Size: 19,900 Total Exon Count: 10 Strand: + Coding Region Position: hg38 chrX:153,725,267-153,743,735 Size: 18,469 Coding Exon Count: 10
ID:ABCD1_HUMAN DESCRIPTION: RecName: Full=ATP-binding cassette sub-family D member 1; AltName: Full=Adrenoleukodystrophy protein; Short=ALDP; FUNCTION: Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity. SUBUNIT: Can form homodimers and heterodimers with ABCD2/ALDR and ABCD3/PMP70. Dimerization is necessary to form an active transporter. Interacts with PEX19. INTERACTION: Self; NbExp=2; IntAct=EBI-81045, EBI-81045; P48410:Abcd1 (xeno); NbExp=2; IntAct=EBI-81045, EBI-81118; P28288:ABCD3; NbExp=2; IntAct=EBI-81045, EBI-80992; SUBCELLULAR LOCATION: Peroxisome membrane; Multi-pass membrane protein. DISEASE: Defects in ABCD1 are the cause of adrenoleukodystrophy X- linked (X-ALD) [MIM:300100]. X-ALD is a peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype. DISEASE: Note=The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and the neighboring gene BCAP31. SIMILARITY: Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. SIMILARITY: Contains 1 ABC transmembrane type-1 domain. SIMILARITY: Contains 1 ABC transporter domain. WEB RESOURCE: Name=X-ALD gene mutation database; URL="http://www.x-ald.nl/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCD1"; WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=P33897";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P33897
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC025358 - Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1, mRNA (cDNA clone MGC:39449 IMAGE:4907640), complete cds. Z21876 - H.sapiens X-linked ALD gene. BC015541 - Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1, mRNA (cDNA clone MGC:9595 IMAGE:3896490), complete cds. JD461240 - Sequence 442264 from Patent EP1572962. JD189498 - Sequence 170522 from Patent EP1572962. JD116137 - Sequence 97161 from Patent EP1572962. JD099240 - Sequence 80264 from Patent EP1572962. JD056417 - Sequence 37441 from Patent EP1572962. JD395987 - Sequence 377011 from Patent EP1572962. JD408958 - Sequence 389982 from Patent EP1572962. JD485366 - Sequence 466390 from Patent EP1572962. JD480980 - Sequence 462004 from Patent EP1572962. JD340075 - Sequence 321099 from Patent EP1572962. JD540367 - Sequence 521391 from Patent EP1572962. JD138039 - Sequence 119063 from Patent EP1572962. JD172953 - Sequence 153977 from Patent EP1572962. JD172863 - Sequence 153887 from Patent EP1572962. JD321589 - Sequence 302613 from Patent EP1572962. JD483081 - Sequence 464105 from Patent EP1572962. JD055818 - Sequence 36842 from Patent EP1572962. JD485577 - Sequence 466601 from Patent EP1572962. JD109635 - Sequence 90659 from Patent EP1572962. JD094609 - Sequence 75633 from Patent EP1572962. JD536526 - Sequence 517550 from Patent EP1572962. JD459745 - Sequence 440769 from Patent EP1572962. DQ891000 - Synthetic construct clone IMAGE:100003630; FLH168401.01X; RZPDo839G0592D ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1) gene, encodes complete protein. DQ894177 - Synthetic construct Homo sapiens clone IMAGE:100008637; FLH168397.01L; RZPDo839G0591D ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1) gene, encodes complete protein. AY421736 - Homo sapiens isolate ALD-M010501 mutant adrenoleukodystrophy protein (ALD) mRNA, partial cds. AY421737 - Homo sapiens isolate ALD-M021101 mutant adrenoleukodystrophy protein (ALD) mRNA, partial cds. AY421738 - Homo sapiens isolate ALD-M030802 mutant adrenoleukodystrophy protein (ALD) mRNA, partial cds. JD050446 - Sequence 31470 from Patent EP1572962. JD368719 - Sequence 349743 from Patent EP1572962. JD475889 - Sequence 456913 from Patent EP1572962. JD222801 - Sequence 203825 from Patent EP1572962. JD497392 - Sequence 478416 from Patent EP1572962. JD541501 - Sequence 522525 from Patent EP1572962. JD120976 - Sequence 102000 from Patent EP1572962. JD365709 - Sequence 346733 from Patent EP1572962. JD391951 - Sequence 372975 from Patent EP1572962. JD141042 - Sequence 122066 from Patent EP1572962. JD393627 - Sequence 374651 from Patent EP1572962. JD224125 - Sequence 205149 from Patent EP1572962. JD104850 - Sequence 85874 from Patent EP1572962. JD075343 - Sequence 56367 from Patent EP1572962. JD386451 - Sequence 367475 from Patent EP1572962. JD439571 - Sequence 420595 from Patent EP1572962. JD122806 - Sequence 103830 from Patent EP1572962. JD086033 - Sequence 67057 from Patent EP1572962. JD144404 - Sequence 125428 from Patent EP1572962. JD122358 - Sequence 103382 from Patent EP1572962. JD413239 - Sequence 394263 from Patent EP1572962. JD335602 - Sequence 316626 from Patent EP1572962. JD386515 - Sequence 367539 from Patent EP1572962. JD116626 - Sequence 97650 from Patent EP1572962. JD066128 - Sequence 47152 from Patent EP1572962. JD389497 - Sequence 370521 from Patent EP1572962. JD152104 - Sequence 133128 from Patent EP1572962. JD217624 - Sequence 198648 from Patent EP1572962. JD365706 - Sequence 346730 from Patent EP1572962. JD319983 - Sequence 301007 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa02010 - ABC transporters hsa04146 - Peroxisome
Reactome (by CSHL, EBI, and GO)
Protein P33897 (Reactome details) participates in the following event(s):
R-HSA-2046087 Translocation of tetracosahexaenoyl-CoA to peroxisomes R-HSA-2046093 Translocation of tetracosapentaenoyl-CoA to peroxisomes R-HSA-382613 PEX-19 docks ABCD1/D2/D3 to peroximal membrane R-HSA-390393 Peroxisomal uptake of very long-chain fatty acyl CoA R-HSA-382575 ABCD1-3 dimers transfer LCFAs from cytosol to peroxisomal matrix R-HSA-2046106 alpha-linolenic acid (ALA) metabolism R-HSA-2046105 Linoleic acid (LA) metabolism R-HSA-1369062 ABC transporters in lipid homeostasis R-HSA-390247 Beta-oxidation of very long chain fatty acids R-HSA-2046104 alpha-linolenic (omega3) and linoleic (omega6) acid metabolism R-HSA-382556 ABC-family proteins mediated transport R-HSA-390918 Peroxisomal lipid metabolism R-HSA-8978868 Fatty acid metabolism R-HSA-382551 Transport of small molecules R-HSA-556833 Metabolism of lipids R-HSA-1430728 Metabolism