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ABCD1 (ATP binding cassette subfamily D member 1)

Gene

215

ATP binding cassette subfamily D member 1

ABCD1

ABC42, ALD, ALDP, AMN

Xq28

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, M

Show/Hide all(86)

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

Show/Hide all(106)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029416	hsa-miR-26b-5p	Microarray	19088304
MIRT050424	hsa-miR-23a-3p	CLASH	23622248
MIRT039787	hsa-miR-615-3p	CLASH	23622248
MIRT053394	hsa-miR-96-5p	Microarray	23807165
MIRT758715	hsa-miR-1202	CLIP-seq
MIRT758716	hsa-miR-125a-3p	CLIP-seq
MIRT758717	hsa-miR-1266	CLIP-seq
MIRT758718	hsa-miR-1273f	CLIP-seq
MIRT758719	hsa-miR-1275	CLIP-seq
MIRT758720	hsa-miR-23a	CLIP-seq
MIRT758721	hsa-miR-23b	CLIP-seq
MIRT758722	hsa-miR-23c	CLIP-seq
MIRT758723	hsa-miR-3119	CLIP-seq
MIRT758724	hsa-miR-3151	CLIP-seq
MIRT758725	hsa-miR-3175	CLIP-seq
MIRT758726	hsa-miR-3184	CLIP-seq
MIRT758727	hsa-miR-3187-3p	CLIP-seq
MIRT758728	hsa-miR-3188	CLIP-seq
MIRT758729	hsa-miR-3197	CLIP-seq
MIRT758730	hsa-miR-3605-5p	CLIP-seq
MIRT758731	hsa-miR-3612	CLIP-seq
MIRT758732	hsa-miR-3619-3p	CLIP-seq
MIRT758733	hsa-miR-3665	CLIP-seq
MIRT758734	hsa-miR-3972	CLIP-seq
MIRT758735	hsa-miR-423-5p	CLIP-seq
MIRT758736	hsa-miR-4265	CLIP-seq
MIRT758737	hsa-miR-4283	CLIP-seq
MIRT758738	hsa-miR-4296	CLIP-seq
MIRT758739	hsa-miR-4316	CLIP-seq
MIRT758740	hsa-miR-4322	CLIP-seq
MIRT758741	hsa-miR-4435	CLIP-seq
MIRT758742	hsa-miR-4443	CLIP-seq
MIRT758743	hsa-miR-4447	CLIP-seq
MIRT758744	hsa-miR-4472	CLIP-seq
MIRT758745	hsa-miR-4518	CLIP-seq
MIRT758746	hsa-miR-4525	CLIP-seq
MIRT758747	hsa-miR-4665-5p	CLIP-seq
MIRT758748	hsa-miR-4701-5p	CLIP-seq
MIRT758749	hsa-miR-4710	CLIP-seq
MIRT758750	hsa-miR-4723-5p	CLIP-seq
MIRT758751	hsa-miR-4776-5p	CLIP-seq
MIRT758752	hsa-miR-4792	CLIP-seq
MIRT758753	hsa-miR-491-5p	CLIP-seq
MIRT758754	hsa-miR-548s	CLIP-seq
MIRT758755	hsa-miR-564	CLIP-seq
MIRT758756	hsa-miR-581	CLIP-seq
MIRT758757	hsa-miR-583	CLIP-seq
MIRT758758	hsa-miR-588	CLIP-seq
MIRT758759	hsa-miR-591	CLIP-seq
MIRT758760	hsa-miR-625	CLIP-seq
MIRT758761	hsa-miR-637	CLIP-seq
MIRT758762	hsa-miR-650	CLIP-seq
MIRT758763	hsa-miR-657	CLIP-seq
MIRT1923689	hsa-miR-1208	CLIP-seq
MIRT758718	hsa-miR-1273f	CLIP-seq
MIRT1923690	hsa-miR-1292	CLIP-seq
MIRT1923691	hsa-miR-1915	CLIP-seq
MIRT758723	hsa-miR-3119	CLIP-seq
MIRT1923692	hsa-miR-3126-5p	CLIP-seq
MIRT1923693	hsa-miR-3160-3p	CLIP-seq
MIRT758727	hsa-miR-3187-3p	CLIP-seq
MIRT1923694	hsa-miR-3190	CLIP-seq
MIRT1923695	hsa-miR-34a	CLIP-seq
MIRT1923696	hsa-miR-34c-5p	CLIP-seq
MIRT1923697	hsa-miR-361-3p	CLIP-seq
MIRT1923698	hsa-miR-3689a-3p	CLIP-seq
MIRT1923699	hsa-miR-3689c	CLIP-seq
MIRT1923700	hsa-miR-3929	CLIP-seq
MIRT1923701	hsa-miR-4270	CLIP-seq
MIRT1923702	hsa-miR-4318	CLIP-seq
MIRT1923703	hsa-miR-4419b	CLIP-seq
MIRT758741	hsa-miR-4435	CLIP-seq
MIRT1923704	hsa-miR-4441	CLIP-seq
MIRT1923705	hsa-miR-4471	CLIP-seq
MIRT1923706	hsa-miR-4478	CLIP-seq
MIRT1923707	hsa-miR-4481	CLIP-seq
MIRT1923708	hsa-miR-4487	CLIP-seq
MIRT1923709	hsa-miR-449a	CLIP-seq
MIRT1923710	hsa-miR-449b	CLIP-seq
MIRT1923711	hsa-miR-4505	CLIP-seq
MIRT1923712	hsa-miR-4632	CLIP-seq
MIRT1923713	hsa-miR-4646-5p	CLIP-seq
MIRT1923714	hsa-miR-4649-5p	CLIP-seq
MIRT1923715	hsa-miR-4652-5p	CLIP-seq
MIRT758748	hsa-miR-4701-5p	CLIP-seq
MIRT1923716	hsa-miR-4704-3p	CLIP-seq
MIRT758749	hsa-miR-4710	CLIP-seq
MIRT1923717	hsa-miR-4728-5p	CLIP-seq
MIRT1923718	hsa-miR-4745-5p	CLIP-seq
MIRT758754	hsa-miR-548s	CLIP-seq
MIRT1923719	hsa-miR-558	CLIP-seq
MIRT758755	hsa-miR-564	CLIP-seq
MIRT758758	hsa-miR-588	CLIP-seq
MIRT1923720	hsa-miR-626	CLIP-seq
MIRT2165251	hsa-miR-182	CLIP-seq
MIRT758726	hsa-miR-3184	CLIP-seq
MIRT758735	hsa-miR-423-5p	CLIP-seq
MIRT758749	hsa-miR-4710	CLIP-seq
MIRT758752	hsa-miR-4792	CLIP-seq
MIRT758757	hsa-miR-583	CLIP-seq
MIRT2383757	hsa-miR-3199	CLIP-seq
MIRT2383758	hsa-miR-4515	CLIP-seq
MIRT2383759	hsa-miR-4651	CLIP-seq
MIRT1923715	hsa-miR-4652-5p	CLIP-seq
MIRT2383760	hsa-miR-608	CLIP-seq
MIRT758761	hsa-miR-637	CLIP-seq

Show/Hide all(64)

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

MIM	HGNC	e!Ensembl
300371	61	ENSG00000101986

Protein

UniProt ID

P33897

Protein name

ATP-binding cassette sub-family D member 1 (EC 3.1.2.-) (EC 7.6.2.-) (Adrenoleukodystrophy protein) (ALDP)

Protein function

ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen (PubMed:11248239, PubMed:15682271, PubMed:16946495, PubMed:18757502,

PDB

7RR9 , 7RRA , 7SHM , 7SHN , 7VR1 , 7VWC , 7VX8 , 7VZB , 7X07 , 7X0T , 7X0Z , 7X1W , 7XEC , 7YRQ

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

Interactions

View interactions

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