• Gene id: 215

Gene Summary

• Gene Symbol: ABCD1   Gene   UCSC   Ensembl
• Aliases: ABC42, ALD, ALDP, AMN
• Gene name: ATP binding cassette subfamily D member 1
• Alternate names: ATP-binding cassette sub-family D member 1, ATP-binding cassette, sub-family D (ALD), member 1, adrenoleukodystrophy protein,
• Gene location: Xq28 (153724850: 153744754)     Exons: 11     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 617227

Protein Summary

• Protein general information: P33897  
  • Name: ATP binding cassette sub family D member 1 (EC 7.6.2.4) (Adrenoleukodystrophy protein) (ALDP)
  • Length: 745  
  • Mass: 82937
• Sequence:

  MPVLSRPRPWRGNTLKRTAVLLALAAYGAHKVYPLVRQCLAPARGLQAPAGEPTQEASGVAAAKAGMNRVFLQRL
  LWLLRLLFPRVLCRETGLLALHSAALVSRTFLSVYVARLDGRLARCIVRKDPRAFGWQLLQWLLIALPATFVNSA
  IRYLEGQLALSFRSRLVAHAYRLYFSQQTYYRVSNMDGRLRNPDQSLTEDVVAFAASVAHLYSNLTKPLLDVAVT
  SYTLLRAARSRGAGTAWPSAIAGLVVFLTANVLRAFSPKFGELVAEEARRKGELRYMHSRVVANSEEIAFYGGHE
  VELALLQRSYQDLASQINLILLERLWYVMLEQFLMKYVWSASGLLMVAVPIITATGYSESDAEAVKKAALEKKEE
  ELVSERTEAFTIARNLLTAAADAIERIMSSYKEVTELAGYTARVHEMFQVFEDVQRCHFKRPRELEDAQAGSGTI
  GRSGVRVEGPLKIRGQVVDVEQGIICENIPIVTPSGEVVVASLNIRVEEGMHLLITGPNGCGKSSLFRILGGLWP
  TYGGVLYKPPPQRMFYIPQRPYMSVGSLRDQVIYPDSVEDMQRKGYSEQDLEAILDVVHLHHILQREGGWEAMCD
  WKDVLSGGEKQRIGMARMFYHRPKYALLDECTSAVSIDVEGKIFQAAKDAGIALLSITHRPSLWKYHTHLLQFDG
  EGGWKFEKLDSAARLSLTEEKQRLEQQLAGIPKMQRRLQELCQILGEAVAPAHVPAPSPQGPGGLQGAST

• Structural information:
  • Protein Domains: (94..38-)
    type-1 (/note="ABC-transmembrane)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00441-)
    (474..70-)
    (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434"-)
  • Interpro: IPR003593  IPR011527  IPR036640  IPR003439  IPR017871   IPR031237  IPR005283  IPR027417  
  • Prosite: PS50929 PS00211 PS50893
  • STRING: ENSP00000218104
• Other Databases: GeneCards:  ABCD1  Malacards:  ABCD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015607	ATPase-coupled fatty-acyl-CoA transmembrane transporter activity	IDA	molecular function
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0043531	ADP binding	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0016887	ATPase activity	IDA	molecular function
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0005778	peroxisomal membrane	IDA	cellular component
GO:1903427	negative regulation of reactive oxygen species biosynthetic process	ISS	biological process
GO:0002082	regulation of oxidative phosphorylation	ISS	biological process
GO:2001280	positive regulation of unsaturated fatty acid biosynthetic process	ISS	biological process
GO:0055092	sterol homeostasis	ISS	biological process
GO:1990535	neuron projection maintenance	ISS	biological process
GO:0042758	long-chain fatty acid catabolic process	IMP	biological process
GO:0006635	fatty acid beta-oxidation	IMP	biological process
GO:0036113	very long-chain fatty-acyl-CoA catabolic process	IMP	biological process
GO:0015607	ATPase-coupled fatty-acyl-CoA transmembrane transporter activity	IGI	molecular function
GO:0055089	fatty acid homeostasis	ISS	biological process
GO:0031998	regulation of fatty acid beta-oxidation	ISS	biological process
GO:0051900	regulation of mitochondrial depolarization	ISS	biological process
GO:0032000	positive regulation of fatty acid beta-oxidation	ISS	biological process
GO:1900407	regulation of cellular response to oxidative stress	ISS	biological process
GO:0043217	myelin maintenance	ISS	biological process
GO:0032000	positive regulation of fatty acid beta-oxidation	IMP	biological process
GO:0030497	fatty acid elongation	ISS	biological process
GO:1900016	negative regulation of cytokine production involved in inflammatory response	ISS	biological process
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:0005324	long-chain fatty acid transporter activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0015910	long-chain fatty acid import into peroxisome	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0005324	long-chain fatty acid transporter activity	IEA	molecular function
GO:0005324	long-chain fatty acid transporter activity	EXP	molecular function
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0036109	alpha-linolenic acid metabolic process	TAS	biological process
GO:0055085	transmembrane transport	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	TAS	biological process
GO:0043651	linoleic acid metabolic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2001280	positive regulation of unsaturated fatty acid biosynthetic process	IEA	biological process
GO:1990535	neuron projection maintenance	IEA	biological process
GO:1903427	negative regulation of reactive oxygen species biosynthetic process	IEA	biological process
GO:0055092	sterol homeostasis	IEA	biological process
GO:0042760	very long-chain fatty acid catabolic process	IEA	biological process
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0002082	regulation of oxidative phosphorylation	IEA	biological process
GO:0000038	very long-chain fatty acid metabolic process	IEA	biological process
GO:0042760	very long-chain fatty acid catabolic process	IEA	biological process
GO:1900407	regulation of cellular response to oxidative stress	IEA	biological process
GO:1900016	negative regulation of cytokine production involved in inflammatory response	IEA	biological process
GO:0055089	fatty acid homeostasis	IEA	biological process
GO:0051900	regulation of mitochondrial depolarization	IEA	biological process
GO:0043217	myelin maintenance	IEA	biological process
GO:0032000	positive regulation of fatty acid beta-oxidation	IEA	biological process
GO:0031998	regulation of fatty acid beta-oxidation	IEA	biological process
GO:0030497	fatty acid elongation	IEA	biological process
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0015916	fatty-acyl-CoA transport	IEA	biological process
GO:0015916	fatty-acyl-CoA transport	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042760	very long-chain fatty acid catabolic process	IDA	biological process
GO:0006635	fatty acid beta-oxidation	IDA	biological process
GO:0006635	fatty acid beta-oxidation	IDA	biological process
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005524	ATP binding	IDA	molecular function
GO:0007031	peroxisome organization	IDA	biological process
GO:0016887	ATPase activity	IDA	molecular function
GO:0005779	integral component of peroxisomal membrane	IDA	cellular component
GO:0005778	peroxisomal membrane	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0042760	very long-chain fatty acid catabolic process	IGI	biological process
GO:0042760	very long-chain fatty acid catabolic process	IGI	biological process
GO:0006635	fatty acid beta-oxidation	IGI	biological process
GO:0015919	peroxisomal membrane transport	NAS	biological process
GO:0015910	long-chain fatty acid import into peroxisome	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042758	long-chain fatty acid catabolic process	IGI	biological process
GO:0042626	ATPase-coupled transmembrane transporter activity	NAS	molecular function
GO:0007031	peroxisome organization	NAS	biological process
GO:0006635	fatty acid beta-oxidation	IGI	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0005779	integral component of peroxisomal membrane	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005324	long-chain fatty acid transporter activity	IGI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04146	Peroxisome
hsa02010	ABC transporters

Diseases

Associated diseases	References
Adrenoleukodystrophy	KEGG:H00176
Adrenoleukodystrophy	KEGG:H00176
Adrenoleukodystrophy	PMID:8048932
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq