ABCD1 (ATP binding cassette subfamily D member 1)

Gene

• Entrez ID: 215
• Gene name: ATP binding cassette subfamily D member 1
• Gene symbol: ABCD1
• Synonyms: ABC42, ALD, ALDP, AMN
• Chromosome: X
• Chromosome location: Xq28
• Summary: 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs4010613	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs11146842	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs128624214	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624215	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624219	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624220	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624221	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs128624222	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs128624223	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624224	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624225	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs140263823	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs141110958	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs150346282	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs193922093	->C	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs193922094	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs201568579	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs201774661	T>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs202125585	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs387906494	AG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs387906495	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs398123100	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs398123102	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123103	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123104	C>A,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123105	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123106	C>T	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123107	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs398123108	G>A,T	Likely-pathogenic, pathogenic	Intron variant
rs727503786	C>A,G,T	Likely-pathogenic, pathogenic	Non coding transcript variant, synonymous variant, missense variant, coding sequence variant
rs781862879	A>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs782041940	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs782266592	G>C,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs797044625	AC>-,ACAC	Likely-pathogenic, pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs797044626	A>G	Pathogenic	Splice acceptor variant
rs797044726	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs797044781	G>A	Pathogenic	Splice acceptor variant
rs886044777	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1064793877	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1170974058	C>A,G,T	Pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant, stop gained
rs1557054153	G>A	Likely-pathogenic	Splice acceptor variant
rs1557054210	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1557054318	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557054745	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557054776	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557054873	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557054875	T>G	Pathogenic	Splice donor variant
rs1557055253	GTGG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557055260	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557055311	G>A,C	Likely-pathogenic	Splice acceptor variant
rs1557055316	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557055337	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557055340	G>A,T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557055392	->GC	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557055405	T>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557055406	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1569540883	AG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569541000	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1569541006	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1569541007	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569541009	CCCTCAGGTGACGGAGCTGGCT>-	Pathogenic	Coding sequence variant, splice acceptor variant, non coding transcript variant, intron variant
rs1569541088	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1569541093	TACATCCC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569541096	G>A	Pathogenic	Splice donor variant
rs1569541109	A>G	Pathogenic	Splice acceptor variant
rs1569541115	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569541198	G>A	Pathogenic	Splice donor variant
rs1569541203	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1569541207	->G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603233089	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1603233120	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1603234451	->GGCAGCCT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603234466	A>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1603234501	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1603234574	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603234759	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1603235263	G>A	Likely-pathogenic	Splice acceptor variant
rs1603235267	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1603235321	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603235389	G>A	Pathogenic	Splice acceptor variant
rs1603235406	TG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603235421	CTGGACGTC>-	Likely-pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs1603235901	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1603235941	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603236013	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603236020	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029416	hsa-miR-26b-5p	Microarray	19088304
MIRT039787	hsa-miR-615-3p	CLASH	23622248
MIRT050424	hsa-miR-23a-3p	CLASH	23622248
MIRT053394	hsa-miR-96-5p	Microarray	23807165

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002082	Process	Regulation of oxidative phosphorylation	ISS
GO:0005324	Function	Long-chain fatty acid transporter activity	EXP	11500517
GO:0005324	Function	Long-chain fatty acid transporter activity	IBA	21873635
GO:0005324	Function	Long-chain fatty acid transporter activity	IGI	18757502
GO:0005515	Function	Protein binding	IPI	10551832, 10777694, 11883941, 17609205, 20531392
GO:0005524	Function	ATP binding	IBA	21873635
GO:0005524	Function	ATP binding	IDA	11248239, 16946495
GO:0005737	Component	Cytoplasm	IDA	17761426
GO:0005765	Component	Lysosomal membrane	IDA	16946495
GO:0005777	Component	Peroxisome	IDA	9425230, 10777694, 14533738, 17542813, 17761426, 18757502, 20810565
GO:0005778	Component	Peroxisomal membrane	IBA	21873635
GO:0005778	Component	Peroxisomal membrane	IDA	16946495, 17609205
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005779	Component	Integral component of peroxisomal membrane	IDA	10640429
GO:0005779	Component	Integral component of peroxisomal membrane	NAS	8441467
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16946495
GO:0005829	Component	Cytosol	TAS
GO:0006635	Process	Fatty acid beta-oxidation	IBA	21873635
GO:0006635	Process	Fatty acid beta-oxidation	IDA	9425230, 17542813
GO:0006635	Process	Fatty acid beta-oxidation	IGI	18757502, 21145416
GO:0006635	Process	Fatty acid beta-oxidation	IMP	23671276
GO:0007031	Process	Peroxisome organization	IBA	21873635
GO:0007031	Process	Peroxisome organization	IDA	9425230
GO:0007031	Process	Peroxisome organization	NAS	8441467
GO:0015607	Function	ABC-type fatty-acyl-CoA transporter activity	IDA	15682271
GO:0015607	Function	ABC-type fatty-acyl-CoA transporter activity	IGI	18757502
GO:0015910	Process	Long-chain fatty acid import into peroxisome	IBA	21873635
GO:0015910	Process	Long-chain fatty acid import into peroxisome	IGI	18757502
GO:0015916	Process	Fatty-acyl-CoA transport	IEA
GO:0015919	Process	Peroxisomal membrane transport	NAS	8441467
GO:0016020	Component	Membrane	HDA	19946888
GO:0016887	Function	ATPase activity	IBA	21873635
GO:0016887	Function	ATPase activity	IDA	11248239, 16946495
GO:0019899	Function	Enzyme binding	IPI	16781659
GO:0030497	Process	Fatty acid elongation	ISS
GO:0031966	Component	Mitochondrial membrane	IDA	16946495
GO:0031998	Process	Regulation of fatty acid beta-oxidation	ISS
GO:0032000	Process	Positive regulation of fatty acid beta-oxidation	IMP	23123468
GO:0032000	Process	Positive regulation of fatty acid beta-oxidation	ISS
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	TAS
GO:0036109	Process	Alpha-linolenic acid metabolic process	TAS
GO:0036113	Process	Very long-chain fatty-acyl-CoA catabolic process	IMP	23671276
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	NAS	8441467
GO:0042758	Process	Long-chain fatty acid catabolic process	IGI	18757502
GO:0042758	Process	Long-chain fatty acid catabolic process	IMP	23671276
GO:0042760	Process	Very long-chain fatty acid catabolic process	IBA	21873635
GO:0042760	Process	Very long-chain fatty acid catabolic process	IDA	9425230
GO:0042760	Process	Very long-chain fatty acid catabolic process	IGI	18757502, 21145416
GO:0042802	Function	Identical protein binding	IPI	10551832
GO:0042803	Function	Protein homodimerization activity	IDA	17609205, 18757502, 21145416
GO:0043217	Process	Myelin maintenance	ISS
GO:0043531	Function	ADP binding	IDA	16946495
GO:0043651	Process	Linoleic acid metabolic process	TAS
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	17761426
GO:0051900	Process	Regulation of mitochondrial depolarization	ISS
GO:0055085	Process	Transmembrane transport	TAS
GO:0055089	Process	Fatty acid homeostasis	ISS
GO:0055092	Process	Sterol homeostasis	ISS
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	ISS
GO:1900407	Process	Regulation of cellular response to oxidative stress	ISS
GO:1903427	Process	Negative regulation of reactive oxygen species biosynthetic process	ISS
GO:1990535	Process	Neuron projection maintenance	ISS
GO:2001280	Process	Positive regulation of unsaturated fatty acid biosynthetic process	ISS

Other IDs

• MIM: 300371
• HGNC: 61
• e!Ensembl: ENSG00000101986

Protein

• UniProt ID: P33897
• Protein name: ATP-binding cassette sub-family D member 1 (EC 7.6.2.4) (Adrenoleukodystrophy protein) (ALDP)
• Protein function: Plays a role in the transport of free very-long-chain fatty acids (VLCFAs) as well as their CoA-esters across the peroxisomal membrane by acting as an ATP-specific binding subunit releasing ADP after ATP hydrolysis (PubMed:15682271, PubMed:11248239, PubMed:16946495, PubMed:18757502). Thus, plays a role in regulation of VLCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation, mitochondrial function and microsomal fatty acid elongation (PubMed:23671276). Involved in several processes; namely, controls the active myelination phase by negatively regulating the microsomal fatty acid elongation activity and may also play a role in axon and myelin maintenance. Controls also the cellular response to oxidative stress by regulating mitochondrial function like, mitochondrial oxidative phosphorylation and depolarization. And finally controls the inflammatory response by positively regulating peroxisomal beta-oxidation of VLCFAs (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06472	ABC_membrane_2	78 → 352	ABC transporter transmembrane region 2	Family
  PF00005	ABC_tran	490 → 633	ABC transporter	Domain

• Sequence:

  MPVLSRPRPWRGNTLKRTAVLLALAAYGAHKVYPLVRQCLAPARGLQAPAGEPTQEASGV
  AAAKAGMNRVFLQRLLWLLRLLFPRVLCRETGLLALHSAALVSRTFLSVYVARLDGRLAR
  CIVRKDPRAFGWQLLQWLLIALPATFVNSAIRYLEGQLALSFRSRLVAHAYRLYFSQQTY
  YRVSNMDGRLRNPDQSLTEDVVAFAASVAHLYSNLTKPLLDVAVTSYTLLRAARSRGAGT
  AWPSAIAGLVVFLTANVLRAFSPKFGELVAEEARRKGELRYMHSRVVANSEEIAFYGGHE
  VELALLQRSYQDLASQINLILLERLWYVMLEQFLMKYVWSASGLLMVAVPIITATGYSES
  DAEAVKKAALEKKEEELVSERTEAFTIARNLLTAAADAIERIMSSYKEVTELAGYTARVH
  EMFQVFEDVQRCHFKRPRELEDAQAGSGTIGRSGVRVEGPLKIRGQVVDVEQGIICENIP
  IVTPSGEVVVASLNIRVEEGMHLLITGPNGCGKSSLFRILGGLWPTYGGVLYKPPPQRMF
  YIPQRPYMSVGSLRDQVIYPDSVEDMQRKGYSEQDLEAILDVVHLHHILQREGGWEAMCD
  WKDVLSGGEKQRIGMARMFYHRPKYALLDECTSAVSIDVEGKIFQAAKDAGIALLSITHR
  PSLWKYHTHLLQFDGEGGWKFEKLDSAARLSLTEEKQRLEQQLAGIPKMQRRLQELCQIL
  GEAVAPAHVPAPSPQGPGGLQGAST

• Sequence length: 745