GenTIGS

ATP binding cassette subfamily D member 1 (ABCD1) Associated conditions: 1. Adrenoleukodystrophy

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000033.4	NP_000024.2	NC_000023.11	(153724855..153744754)	Reference GRCh38.p14 Primary Assembly	P33897

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1167 reference articles

Variant Information ATP binding cassette subfamily D member 1 (ABCD1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene ATP binding cassette subfamily D member 1 (ABCD1)

ClinVar variants:Revealing mutagenic patterns

GO Term of ATP binding cassette subfamily D member 1 (ABCD1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	involved_in	very long-chain fatty acid metabolic process	Process	29397936
2	Homo sapiens	ISS	involved_in	regulation of oxidative phosphorylation	Process	-
3	Homo sapiens	EXP	enables	long-chain fatty acid transporter activity	Function	11500517
4	Homo sapiens	IBA	enables	long-chain fatty acid transporter activity	Function	21873635
5	Homo sapiens	IGI	enables	long-chain fatty acid transporter activity	Function	18757502
6	Homo sapiens	TAS	enables	long-chain fatty acid transporter activity	Function	-
7	Homo sapiens	IPI	enables	protein binding	Function	10551832 10777694 11883941 17609205 20531392
8	Homo sapiens	IBA	enables	ATP binding	Function	21873635
9	Homo sapiens	IDA	enables	ATP binding	Function	11248239 16946495
10	Homo sapiens	IDA	located_in	cytoplasm	Component	17761426
11	Homo sapiens	IDA	located_in	lysosomal membrane	Component	16946495
12	Homo sapiens	IDA	located_in	peroxisome	Component	9425230 10777694 14533738 17542813 17761426 18757502 20810565
13	Homo sapiens	IBA	is_active_in	peroxisomal membrane	Component	21873635
14	Homo sapiens	IDA	located_in	peroxisomal membrane	Component	10640429 16946495 17609205 29397936
15	Homo sapiens	NAS	located_in	peroxisomal membrane	Component	8441467
16	Homo sapiens	TAS	located_in	peroxisomal membrane	Component	-
17	Homo sapiens	IDA	located_in	endoplasmic reticulum membrane	Component	16946495
18	Homo sapiens	TAS	located_in	cytosol	Component	-
19	Homo sapiens	IBA	involved_in	fatty acid beta-oxidation	Process	21873635
20	Homo sapiens	IDA	involved_in	fatty acid beta-oxidation	Process	9425230 17542813
21	Homo sapiens	IGI	involved_in	fatty acid beta-oxidation	Process	18757502 21145416
22	Homo sapiens	IMP	involved_in	fatty acid beta-oxidation	Process	23671276
23	Homo sapiens	IBA	involved_in	peroxisome organization	Process	21873635
24	Homo sapiens	IDA	involved_in	peroxisome organization	Process	9425230
25	Homo sapiens	NAS	involved_in	peroxisome organization	Process	8441467
26	Homo sapiens	IDA	enables	ABC-type fatty-acyl-CoA transporter activity	Function	15682271
27	Homo sapiens	IGI	enables	ABC-type fatty-acyl-CoA transporter activity	Function	18757502
28	Homo sapiens	IBA	involved_in	long-chain fatty acid import into peroxisome	Process	21873635
29	Homo sapiens	IGI	involved_in	long-chain fatty acid import into peroxisome	Process	18757502
30	Homo sapiens	IEA	involved_in	fatty-acyl-CoA transport	Process	-
31	Homo sapiens	NAS	involved_in	peroxisomal membrane transport	Process	8441467
32	Homo sapiens	HDA	located_in	membrane	Component	19946888
33	Homo sapiens	IDA	enables	ATP hydrolysis activity	Function	11248239 16946495 33500543
34	Homo sapiens	IPI	enables	enzyme binding	Function	16781659
35	Homo sapiens	ISS	involved_in	fatty acid elongation	Process	-
36	Homo sapiens	IDA	located_in	mitochondrial membrane	Component	16946495
37	Homo sapiens	ISS	involved_in	regulation of fatty acid beta-oxidation	Process	-
38	Homo sapiens	IMP	involved_in	positive regulation of fatty acid beta-oxidation	Process	23123468
39	Homo sapiens	ISS	involved_in	positive regulation of fatty acid beta-oxidation	Process	-
40	Homo sapiens	TAS	involved_in	alpha-linolenic acid metabolic process	Process	-
41	Homo sapiens	IMP	involved_in	very long-chain fatty-acyl-CoA catabolic process	Process	23671276
42	Homo sapiens	IBA	enables	ATPase-coupled transmembrane transporter activity	Function	21873635
43	Homo sapiens	IDA	enables	ATPase-coupled transmembrane transporter activity	Function	29397936
44	Homo sapiens	NAS	enables	ATPase-coupled transmembrane transporter activity	Function	8441467
45	Homo sapiens	IGI	involved_in	long-chain fatty acid catabolic process	Process	18757502
46	Homo sapiens	IMP	involved_in	long-chain fatty acid catabolic process	Process	23671276
47	Homo sapiens	IBA	involved_in	very long-chain fatty acid catabolic process	Process	21873635
48	Homo sapiens	IDA	involved_in	very long-chain fatty acid catabolic process	Process	9425230
49	Homo sapiens	IGI	involved_in	very long-chain fatty acid catabolic process	Process	18757502 21145416
50	Homo sapiens	IPI	enables	identical protein binding	Function	10551832
51	Homo sapiens	IDA	enables	protein homodimerization activity	Function	17609205 18757502 21145416
52	Homo sapiens	ISS	involved_in	myelin maintenance	Process	-
53	Homo sapiens	IDA	enables	ADP binding	Function	16946495
54	Homo sapiens	TAS	involved_in	linoleic acid metabolic process	Process	-
55	Homo sapiens	IEA	enables	protein heterodimerization activity	Function	-
56	Homo sapiens	IDA	enables	acyl-CoA hydrolase activity	Function	29397936 33500543
57	Homo sapiens	IDA	located_in	perinuclear region of cytoplasm	Component	17761426
58	Homo sapiens	ISS	involved_in	regulation of mitochondrial depolarization	Process	-
59	Homo sapiens	ISS	involved_in	fatty acid homeostasis	Process	-
60	Homo sapiens	ISS	involved_in	sterol homeostasis	Process	-
61	Homo sapiens	ISS	involved_in	negative regulation of cytokine production involved in inflammatory response	Process	-
62	Homo sapiens	ISS	involved_in	regulation of cellular response to oxidative stress	Process	-
63	Homo sapiens	ISS	involved_in	negative regulation of reactive oxygen species biosynthetic process	Process	-
64	Homo sapiens	ISS	involved_in	neuron projection maintenance	Process	-
65	Homo sapiens	ISS	involved_in	positive regulation of unsaturated fatty acid biosynthetic process	Process	-