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Protein

ATP-binding cassette sub-family D member 1

Gene

ABCD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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). 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).By similarity4 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi507 – 514ATPPROSITE-ProRule annotation8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • ADP binding Source: UniProtKB
  • ATPase activity Source: UniProtKB
  • ATPase activity, coupled to transmembrane movement of substances Source: UniProtKB
  • ATP binding Source: UniProtKB
  • enzyme binding Source: UniProtKB
  • fatty-acyl-CoA transmembrane transporter activity Source: UniProtKB
  • identical protein binding Source: IntAct
  • long-chain fatty acid transporter activity Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB
  • transporter activity Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processTransport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

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BRENDAi
3.6.3.47 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1369062 ABC transporters in lipid homeostasis
R-HSA-2046105 Linoleic acid (LA) metabolism
R-HSA-2046106 alpha-linolenic acid (ALA) metabolism
R-HSA-390247 Beta-oxidation of very long chain fatty acids
R-HSA-5684045 Defective ABCD1 causes adrenoleukodystrophy (ALD)

Protein family/group databases

Transport Classification Database

More...
TCDBi
3.A.1.203.3 the atp-binding cassette (abc) superfamily

Chemistry databases

SwissLipids knowledge resource for lipid biology

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SwissLipidsi
SLP:000000458

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
ATP-binding cassette sub-family D member 1Curated
Alternative name(s):
Adrenoleukodystrophy protein1 Publication
Short name:
ALDP1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ABCD1Imported
Synonyms:ALD
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000101986.11

Human Gene Nomenclature Database

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HGNCi
HGNC:61 ABCD1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
300371 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P33897

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei92 – 112HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei131 – 151HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei238 – 258HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei333 – 353HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei473 – 493HelicalPROSITE-ProRule annotationAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Lysosome, Membrane, Mitochondrion, Peroxisome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Adrenoleukodystrophy (ALD)22 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:300100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02300488C → W in ALD. 1 Publication1
Natural variantiVAR_00934990E → K in ALD. 1
Natural variantiVAR_07528495A → D in ALD. 1 Publication1
Natural variantiVAR_00002498S → L in ALD; CALD type. 1 Publication1
Natural variantiVAR_01334199A → D in ALD; AMN-type. 1 Publication1
Natural variantiVAR_009350103S → R in ALD. 1 Publication1
Natural variantiVAR_000025104R → C in ALD. 1
Natural variantiVAR_000026104R → H in ALD; ADO-type. 1 Publication1
Natural variantiVAR_000027105T → I in ALD; ADO-type. 1
Natural variantiVAR_009351105T → P in ALD. 1 Publication1
Natural variantiVAR_000028107L → P in ALD; ALD/AMN/ADO-types and asymptomatic. 1 Publication1
Natural variantiVAR_009352108S → L in ALD. 1 Publication1
Natural variantiVAR_000029108S → W in ALD; CALD and AMN-types. 1
Natural variantiVAR_009353113R → C in ALD. 1
Natural variantiVAR_013342113R → P in ALD. 1
Natural variantiVAR_000030116G → R in ALD; CALD-type. 1 PublicationCorresponds to variant dbSNP:rs398123110EnsemblClinVar.1
Natural variantiVAR_000032138 – 141Missing in ALD; ALD-type. 4
Natural variantiVAR_067239139Missing in ALD. 1 Publication1
Natural variantiVAR_000033141A → T in ALD. Corresponds to variant dbSNP:rs193922097EnsemblClinVar.1
Natural variantiVAR_009354143P → S in ALD. 2 Publications1
Natural variantiVAR_000034148N → S in ALD; ADO-type. 2 PublicationsCorresponds to variant dbSNP:rs128624216EnsemblClinVar.1
Natural variantiVAR_000035149S → N in ALD. 1
Natural variantiVAR_000036152R → C in ALD; ADO-type. 1 Publication1
Natural variantiVAR_009355152R → L in ALD. 1
Natural variantiVAR_000037152R → P in ALD. 1
Natural variantiVAR_009356152R → S in ALD. 1 Publication1
Natural variantiVAR_009357161S → P in ALD. 1
Natural variantiVAR_000038163R → H in ALD. Corresponds to variant dbSNP:rs1057517954Ensembl.1
Natural variantiVAR_009358163R → P in ALD. 1
Natural variantiVAR_009359174Y → C in ALD. 1 Publication1
Natural variantiVAR_000039174Y → D in ALD; ALD-type. 2 PublicationsCorresponds to variant dbSNP:rs128624217EnsemblClinVar.1
Natural variantiVAR_000040174Y → S in ALD; CALD-type. 1
Natural variantiVAR_000041178Q → E in ALD; AMN-type. 1 Publication1
Natural variantiVAR_000042181Y → C in ALD; ALMD-type. 1 Publication1
Natural variantiVAR_000043182R → P in ALD. 1
Natural variantiVAR_009360189R → W in ALD. 1 PublicationCorresponds to variant dbSNP:rs1131691916Ensembl.1
Natural variantiVAR_009361190L → P in ALD. 1 Publication1
Natural variantiVAR_000044194D → H in ALD. 1
Natural variantiVAR_009362198T → K in ALD. 1
Natural variantiVAR_067240198T → R in ALD. 1 Publication1
Natural variantiVAR_009363200D → N in ALD. 1
Natural variantiVAR_000045200D → V in ALD; CALD-type. 1
Natural variantiVAR_013343207S → SAAS in ALD. 1
Natural variantiVAR_000046211L → P in ALD. 1
Natural variantiVAR_009364213S → C in ALD. 1
Natural variantiVAR_009365214N → D in ALD. 1
Natural variantiVAR_013344217K → E in ALD. 1 Publication1
Natural variantiVAR_009366218P → T in ALD. 1 Publication1
Natural variantiVAR_000047220L → P in ALD. 1
Natural variantiVAR_000048221D → G in ALD; CALD and AMN-types. 1
Natural variantiVAR_013345224V → E in ALD. 1
Natural variantiVAR_009367229L → P in ALD. 1 Publication1
Natural variantiVAR_000049254T → M in ALD; AMN-type. 1 PublicationCorresponds to variant dbSNP:rs1131691743Ensembl.1
Natural variantiVAR_000050254T → P in ALD; AMN-type. 1
Natural variantiVAR_000051263P → L in ALD; CALD, AMN and AD-types. 1
Natural variantiVAR_067241266G → E in ALD. 1 Publication1
Natural variantiVAR_000052266G → R in ALD. 2 PublicationsCorresponds to variant dbSNP:rs128624218EnsemblClinVar.1
Natural variantiVAR_009368271E → K in ALD. 1
Natural variantiVAR_013346274R → W in ALD. Corresponds to variant dbSNP:rs782760033Ensembl.1
Natural variantiVAR_000053276K → E in ALD; CALD-type. 1
Natural variantiVAR_000055277G → GN in ALD; ADO-type. 1
Natural variantiVAR_000054277G → R in ALD; AMN-type. 1
Natural variantiVAR_000056277G → W in ALD. 1
Natural variantiVAR_013347280R → C in ALD. Corresponds to variant dbSNP:rs193922098EnsemblClinVar.1
Natural variantiVAR_009369285R → P in ALD. 1
Natural variantiVAR_000057291E → D in ALD; ACALD and CALD-types. 1
Natural variantiVAR_000058291E → K in ALD. 1 PublicationCorresponds to variant dbSNP:rs128624213EnsemblClinVar.1
Natural variantiVAR_000059291Missing in ALD; ALD-type. 1
Natural variantiVAR_000060294A → T in ALD; AMN-type. Corresponds to variant dbSNP:rs1131691954Ensembl.1
Natural variantiVAR_009370296Y → C in ALD. Corresponds to variant dbSNP:rs797044610EnsemblClinVar.1
Natural variantiVAR_009371298G → D in ALD. 2 Publications1
Natural variantiVAR_013348300E → EVGQ in ALD. 1 Publication1
Natural variantiVAR_009372302E → K in ALD. 1
Natural variantiVAR_075285316Q → P in ALD. 1 Publication1
Natural variantiVAR_009373322L → P in ALD. 1
Natural variantiVAR_009374336K → M in ALD. 1
Natural variantiVAR_013349339W → R in ALD. 1
Natural variantiVAR_000061342S → P in ALD; AMN-type. 1
Natural variantiVAR_013350343G → D in ALD. 1
Natural variantiVAR_023005343G → S in ALD. 1 Publication1
Natural variantiVAR_000062389R → G in ALD; AMN-type. 1 PublicationCorresponds to variant dbSNP:rs128624215EnsemblClinVar.1
Natural variantiVAR_000063389R → H in ALD; does not affect protein stability, homo- and heterodimerization with ALDR and PMP70. 1 PublicationCorresponds to variant dbSNP:rs886044777EnsemblClinVar.1
Natural variantiVAR_000064401R → Q in ALD; ALD and AMN-types; does not affect protein stability, homo- and heterodimerization with ALDR and PMP70. 6 PublicationsCorresponds to variant dbSNP:rs128624219EnsemblClinVar.1
Natural variantiVAR_009375401R → W in ALD. 2 Publications1
Natural variantiVAR_000065418R → W in ALD; AMN-type. 4 PublicationsCorresponds to variant dbSNP:rs128624220EnsemblClinVar.1
Natural variantiVAR_013351427Missing in ALD. 1
Natural variantiVAR_000066484P → R in ALD; CALD, AMN and ADO-types; significantly decreases homodimerization and abolishes heterodimerization with ALDR and PMP70. 1 PublicationCorresponds to variant dbSNP:rs128624214EnsemblClinVar.1
Natural variantiVAR_023006503L → P in ALD. 1 Publication1
Natural variantiVAR_000067507G → V in ALD; CALD-types. 1
Natural variantiVAR_000068512G → S in ALD; CALD and AS-types; reduced ATPase activity. 1 Publication1
Natural variantiVAR_023007514S → R in ALD. 1 Publication1
Natural variantiVAR_000069515S → F in ALD. 1 PublicationCorresponds to variant dbSNP:rs128624223EnsemblClinVar.1
Natural variantiVAR_067328516L → P in ALD. 1 Publication1
Natural variantiVAR_000070518R → Q in ALD; CALD-type. 2 PublicationsCorresponds to variant dbSNP:rs398123102EnsemblClinVar.1
Natural variantiVAR_000071518R → W in ALD; CALD-type. 1 PublicationCorresponds to variant dbSNP:rs128624224EnsemblClinVar.1
Natural variantiVAR_000072522G → W in ALD; AD-type. 1
Natural variantiVAR_067242523L → F in ALD. 1 Publication1
Natural variantiVAR_000073528Missing in ALD; CALD-type. 1 Publication1
Natural variantiVAR_009376529G → S in ALD. 1 Publication1
Natural variantiVAR_000074534P → L in ALD; CALD-type. 1
Natural variantiVAR_067243540F → C in ALD. 1 Publication1
Natural variantiVAR_009377540F → S in ALD. 1
Natural variantiVAR_009378543P → L in ALD. 2 Publications1
Natural variantiVAR_009379544Q → R in ALD. 1
Natural variantiVAR_009380552S → P in ALD. 1
Natural variantiVAR_009381554R → H in ALD. 2 PublicationsCorresponds to variant dbSNP:rs201568579EnsemblClinVar.1
Natural variantiVAR_013352556Q → R in ALD; ACALD type. 1 Publication1
Natural variantiVAR_000075560P → L in ALD; CALD-type. 3 PublicationsCorresponds to variant dbSNP:rs398123105EnsemblClinVar.1
Natural variantiVAR_000076560P → R in ALD; AMN and ALMD-types. 1
Natural variantiVAR_013353560P → S in ALD. 1
Natural variantiVAR_000077566M → K in ALD. 1
Natural variantiVAR_013354591R → P in ALD. 1
Natural variantiVAR_000078591R → Q in ALD; AMN-type; significantly decreases homodimerization and abolishes heterodimerization with ALDR and PMP70. 1 Publication1
Natural variantiVAR_009382591R → W in ALD. Corresponds to variant dbSNP:rs398123106EnsemblClinVar.1
Natural variantiVAR_000079606S → L in ALD; decreased ATP-binding affinity. 2 PublicationsCorresponds to variant dbSNP:rs128624225EnsemblClinVar.1
Natural variantiVAR_000080606S → P in ALD; CALD, AMN and ALMD-types. 2 PublicationsCorresponds to variant dbSNP:rs201774661EnsemblClinVar.1
Natural variantiVAR_013355608G → D in ALD; CALD-type. 1 PublicationCorresponds to variant dbSNP:rs78993751EnsemblClinVar.1
Natural variantiVAR_000081609E → G in ALD. 1
Natural variantiVAR_000082609E → K in ALD; AMN-type. 1 PublicationCorresponds to variant dbSNP:rs150346282EnsemblClinVar.1
Natural variantiVAR_009383616A → V in ALD. 1 Publication1
Natural variantiVAR_000083617R → C in ALD; ALD-type and asymptomatic. 2 PublicationsCorresponds to variant dbSNP:rs4010613EnsemblClinVar.1
Natural variantiVAR_000084617R → G in ALD; ADO and AMN-types with cerebral involvement. 1 Publication1
Natural variantiVAR_000085617R → H in ALD. 2 PublicationsCorresponds to variant dbSNP:rs11146842EnsemblClinVar.1
Natural variantiVAR_013356626A → D in ALD. 1
Natural variantiVAR_000086626A → T in ALD; CALD and AMN-types. 1 Publication1
Natural variantiVAR_000087629D → H in ALD. 1
Natural variantiVAR_009384630E → G in ALD. 1
Natural variantiVAR_009385631C → Y in ALD. 1
Natural variantiVAR_013357632T → I in ALD. Corresponds to variant dbSNP:rs1064793877Ensembl.1
Natural variantiVAR_067244632T → P in ALD. 1 Publication1
Natural variantiVAR_013358633S → I in ALD; asymptomatic. 1 Publication1
Natural variantiVAR_009386633S → R in ALD. 2 Publications1
Natural variantiVAR_013359635V → M in ALD. Corresponds to variant dbSNP:rs201427153Ensembl.1
Natural variantiVAR_009387636S → I in ALD. 1
Natural variantiVAR_009388638D → Y in ALD. 1 Publication1
Natural variantiVAR_067245640E → K in ALD. 1 Publication1
Natural variantiVAR_009389646A → P in ALD. 1 Publication1
Natural variantiVAR_009390654L → P in ALD. 1
Natural variantiVAR_000088657Missing in ALD; CALD-type. 1
Natural variantiVAR_013360660R → P in ALD; CALD-type. 1 Publication1
Natural variantiVAR_067329660R → Q in ALD. 1 Publication1
Natural variantiVAR_000089660R → W in ALD; CALD, ALMD and AS-types. 1
Natural variantiVAR_009391667H → D in ALD. 1
Natural variantiVAR_009392668T → I in ALD. 1
Natural variantiVAR_067246677G → D in ALD. 1 Publication1
Natural variantiVAR_000090679W → R in ALD; AMN-type. 1 Publication1
Natural variantiVAR_009393693T → M in ALD. Corresponds to variant dbSNP:rs782311214Ensembl.1
The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and the neighboring gene BCAP31.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi67M → P: Does not affect PEX19 interaction. 1 Publication1
Mutagenesisi68N → P: Does not affect PEX19 interaction. 1 Publication1
Mutagenesisi69R → P: Does not affect PEX19 interaction. 1 Publication1
Mutagenesisi70V → P: Does not affect PEX19 interaction. 1 Publication1
Mutagenesisi71F → P: Does not affect PEX19 interaction. 1 Publication1
Mutagenesisi72L → P: Does not affect PEX19 interaction. 1 Publication1
Mutagenesisi73Q → P: Does not affect PEX19 interaction. 1 Publication1
Mutagenesisi74R → P: Does not affect PEX19 interaction. 1 Publication1
Mutagenesisi75L → P: Impairs PEX19 interaction. 1 Publication1
Mutagenesisi76L → P: Impairs PEX19 interaction. 1 Publication1
Mutagenesisi77W → P: Does not affect PEX19 interaction. 1 Publication1
Mutagenesisi78L → P: Impairs PEX19 interaction. 1 Publication1
Mutagenesisi79L → P: Impairs PEX19 interaction. 1 Publication1
Mutagenesisi80R → P: Does not affect PEX19 interaction. 1 Publication1
Mutagenesisi81L → P: Does not affect PEX19 interaction. 1 Publication1
Mutagenesisi82L → P: Does not affect PEX19 interaction. 1 Publication1
Mutagenesisi83F → P: Does not affect PEX19 interaction. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
215

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
ABCD1

MalaCards human disease database

More...
MalaCardsi
ABCD1
MIMi300100 phenotype

Open Targets

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OpenTargetsi
ENSG00000101986

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
139399 Adrenomyeloneuropathy
369942 CADDS
139396 X-linked cerebral adrenoleukodystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA24396

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ABCD1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
67476960

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000933041 – 745ATP-binding cassette sub-family D member 1Add BLAST745

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi214N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei733PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Tyrosine-phosphorylated.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P33897

MaxQB - The MaxQuant DataBase

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MaxQBi
P33897

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P33897

PeptideAtlas

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PeptideAtlasi
P33897

PRoteomics IDEntifications database

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PRIDEi
P33897

ProteomicsDB human proteome resource

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ProteomicsDBi
54928

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P33897

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P33897

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated by degradation or export of cholesterol.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000101986 Expressed in 169 organ(s), highest expression level in right adrenal gland

CleanEx database of gene expression profiles

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CleanExi
HS_ABCD1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P33897 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P33897 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Can form homooligomers, homodimers and heterodimers with ABCD2/ALDR and ABCD3/PMP70. Dimerization is necessary to form an active transporter (PubMed:17609205, PubMed:10551832). Interacts with PEX19; facilitates ABCD1 insertion into the peroxisome membrane (PubMed:10777694, PubMed:10704444).4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
106717, 37 interactors

Protein interaction database and analysis system

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IntActi
P33897, 16 interactors

Molecular INTeraction database

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MINTi
P33897

STRING: functional protein association networks

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STRINGi
9606.ENSP00000218104

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P33897

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini94 – 386ABC transmembrane type-1PROSITE-ProRule annotationAdd BLAST293
Domaini474 – 700ABC transporterPROSITE-ProRule annotationAdd BLAST227

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni67 – 186Interaction with PEX191 PublicationAdd BLAST120
Regioni67 – 84PEX19 binding site and required for peroxisomal targeting1 PublicationAdd BLAST18
Regioni658 – 745Required for homodimerization1 PublicationAdd BLAST88

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The NH2-terminal transmembrane domaine (TMD) is involved in the recognition of substrates, and undergoes a conformational change upon ATP binding to the COOH-terminal nucleotide binding domain (NBD).1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0064 Eukaryota
COG4178 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154100

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000206081

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG050438

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P33897

KEGG Orthology (KO)

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KOi
K05675

Identification of Orthologs from Complete Genome Data

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OMAi
EGPLKIR

Database of Orthologous Groups

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OrthoDBi
EOG091G04M1

Database for complete collections of gene phylogenies

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PhylomeDBi
P33897

TreeFam database of animal gene trees

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TreeFami
TF105205

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR003593 AAA+_ATPase
IPR011527 ABC1_TM_dom
IPR036640 ABC1_TM_sf
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR031237 ALDP
IPR005283 FA_transporter
IPR027417 P-loop_NTPase

The PANTHER Classification System

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PANTHERi
PTHR11384:SF21 PTHR11384:SF21, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF06472 ABC_membrane_2, 1 hit
PF00005 ABC_tran, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00382 AAA, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52540 SSF52540, 1 hit
SSF90123 SSF90123, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00954 3a01203, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50929 ABC_TM1F, 1 hit
PS00211 ABC_TRANSPORTER_1, 1 hit
PS50893 ABC_TRANSPORTER_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P33897-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPVLSRPRPW RGNTLKRTAV LLALAAYGAH KVYPLVRQCL APARGLQAPA
60 70 80 90 100
GEPTQEASGV AAAKAGMNRV FLQRLLWLLR LLFPRVLCRE TGLLALHSAA
110 120 130 140 150
LVSRTFLSVY VARLDGRLAR CIVRKDPRAF GWQLLQWLLI ALPATFVNSA
160 170 180 190 200
IRYLEGQLAL SFRSRLVAHA YRLYFSQQTY YRVSNMDGRL RNPDQSLTED
210 220 230 240 250
VVAFAASVAH LYSNLTKPLL DVAVTSYTLL RAARSRGAGT AWPSAIAGLV
260 270 280 290 300
VFLTANVLRA FSPKFGELVA EEARRKGELR YMHSRVVANS EEIAFYGGHE
310 320 330 340 350
VELALLQRSY QDLASQINLI LLERLWYVML EQFLMKYVWS ASGLLMVAVP
360 370 380 390 400
IITATGYSES DAEAVKKAAL EKKEEELVSE RTEAFTIARN LLTAAADAIE
410 420 430 440 450
RIMSSYKEVT ELAGYTARVH EMFQVFEDVQ RCHFKRPREL EDAQAGSGTI
460 470 480 490 500
GRSGVRVEGP LKIRGQVVDV EQGIICENIP IVTPSGEVVV ASLNIRVEEG
510 520 530 540 550
MHLLITGPNG CGKSSLFRIL GGLWPTYGGV LYKPPPQRMF YIPQRPYMSV
560 570 580 590 600
GSLRDQVIYP DSVEDMQRKG YSEQDLEAIL DVVHLHHILQ REGGWEAMCD
610 620 630 640 650
WKDVLSGGEK QRIGMARMFY HRPKYALLDE CTSAVSIDVE GKIFQAAKDA
660 670 680 690 700
GIALLSITHR PSLWKYHTHL LQFDGEGGWK FEKLDSAARL SLTEEKQRLE
710 720 730 740
QQLAGIPKMQ RRLQELCQIL GEAVAPAHVP APSPQGPGGL QGAST
Length:745
Mass (Da):82,937
Last modified:June 7, 2005 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i82F90905F71FFDC8
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A6NEP8A6NEP8_HUMAN
ATP-binding cassette sub-family D m...
ABCD1
227Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti123V → A in CAA79922 (PubMed:8441467).Curated1
Sequence conflicti123V → A in CAA83230 (PubMed:8441467).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01334013N → T Very rare polymorphism; does not affect ALDP function. 1 PublicationCorresponds to variant dbSNP:rs183021839EnsemblClinVar.1
Natural variantiVAR_02300488C → W in ALD. 1 Publication1
Natural variantiVAR_00934990E → K in ALD. 1
Natural variantiVAR_07528495A → D in ALD. 1 Publication1
Natural variantiVAR_00002498S → L in ALD; CALD type. 1 Publication1
Natural variantiVAR_01334199A → D in ALD; AMN-type. 1 Publication1
Natural variantiVAR_009350103S → R in ALD. 1 Publication1
Natural variantiVAR_000025104R → C in ALD. 1
Natural variantiVAR_000026104R → H in ALD; ADO-type. 1 Publication1
Natural variantiVAR_000027105T → I in ALD; ADO-type. 1
Natural variantiVAR_009351105T → P in ALD. 1 Publication1
Natural variantiVAR_000028107L → P in ALD; ALD/AMN/ADO-types and asymptomatic. 1 Publication1
Natural variantiVAR_009352108S → L in ALD. 1 Publication1
Natural variantiVAR_000029108S → W in ALD; CALD and AMN-types. 1
Natural variantiVAR_009353113R → C in ALD. 1
Natural variantiVAR_013342113R → P in ALD. 1
Natural variantiVAR_000030116G → R in ALD; CALD-type. 1 PublicationCorresponds to variant dbSNP:rs398123110EnsemblClinVar.1
Natural variantiVAR_000032138 – 141Missing in ALD; ALD-type. 4
Natural variantiVAR_067239139Missing in ALD. 1 Publication1
Natural variantiVAR_000033141A → T in ALD. Corresponds to variant dbSNP:rs193922097EnsemblClinVar.1
Natural variantiVAR_009354143P → S in ALD. 2 Publications1
Natural variantiVAR_000034148N → S in ALD; ADO-type. 2 PublicationsCorresponds to variant dbSNP:rs128624216EnsemblClinVar.1
Natural variantiVAR_000035149S → N in ALD. 1
Natural variantiVAR_000036152R → C in ALD; ADO-type. 1 Publication1
Natural variantiVAR_009355152R → L in ALD. 1
Natural variantiVAR_000037152R → P in ALD. 1
Natural variantiVAR_009356152R → S in ALD. 1 Publication1
Natural variantiVAR_009357161S → P in ALD. 1
Natural variantiVAR_000038163R → H in ALD. Corresponds to variant dbSNP:rs1057517954Ensembl.1
Natural variantiVAR_009358163R → P in ALD. 1
Natural variantiVAR_009359174Y → C in ALD. 1 Publication1
Natural variantiVAR_000039174Y → D in ALD; ALD-type. 2 PublicationsCorresponds to variant dbSNP:rs128624217EnsemblClinVar.1
Natural variantiVAR_000040174Y → S in ALD; CALD-type. 1
Natural variantiVAR_000041178Q → E in ALD; AMN-type. 1 Publication1
Natural variantiVAR_000042181Y → C in ALD; ALMD-type. 1 Publication1
Natural variantiVAR_000043182R → P in ALD. 1
Natural variantiVAR_009360189R → W in ALD. 1 PublicationCorresponds to variant dbSNP:rs1131691916Ensembl.1
Natural variantiVAR_009361190L → P in ALD. 1 Publication1
Natural variantiVAR_000044194D → H in ALD. 1
Natural variantiVAR_009362198T → K in ALD. 1
Natural variantiVAR_067240198T → R in ALD. 1 Publication1
Natural variantiVAR_009363200D → N in ALD. 1
Natural variantiVAR_000045200D → V in ALD; CALD-type. 1
Natural variantiVAR_013343207S → SAAS in ALD. 1
Natural variantiVAR_000046211L → P in ALD. 1
Natural variantiVAR_009364213S → C in ALD. 1
Natural variantiVAR_009365214N → D in ALD. 1
Natural variantiVAR_013344217K → E in ALD. 1 Publication1
Natural variantiVAR_009366218P → T in ALD. 1 Publication1
Natural variantiVAR_000047220L → P in ALD. 1
Natural variantiVAR_000048221D → G in ALD; CALD and AMN-types. 1
Natural variantiVAR_013345224V → E in ALD. 1
Natural variantiVAR_009367229L → P in ALD. 1 Publication1
Natural variantiVAR_000049254T → M in ALD; AMN-type. 1 PublicationCorresponds to variant dbSNP:rs1131691743Ensembl.1
Natural variantiVAR_000050254T → P in ALD; AMN-type. 1
Natural variantiVAR_000051263P → L in ALD; CALD, AMN and AD-types. 1
Natural variantiVAR_067241266G → E in ALD. 1 Publication1
Natural variantiVAR_000052266G → R in ALD. 2 PublicationsCorresponds to variant dbSNP:rs128624218EnsemblClinVar.1
Natural variantiVAR_009368271E → K in ALD. 1
Natural variantiVAR_013346274R → W in ALD. Corresponds to variant dbSNP:rs782760033Ensembl.1
Natural variantiVAR_000053276K → E in ALD; CALD-type. 1
Natural variantiVAR_000055277G → GN in ALD; ADO-type. 1
Natural variantiVAR_000054277G → R in ALD; AMN-type. 1
Natural variantiVAR_000056277G → W in ALD. 1
Natural variantiVAR_013347280R → C in ALD. Corresponds to variant dbSNP:rs193922098EnsemblClinVar.1
Natural variantiVAR_009369285R → P in ALD. 1
Natural variantiVAR_000057291E → D in ALD; ACALD and CALD-types. 1
Natural variantiVAR_000058291E → K in ALD. 1 PublicationCorresponds to variant dbSNP:rs128624213EnsemblClinVar.1
Natural variantiVAR_000059291Missing in ALD; ALD-type. 1
Natural variantiVAR_000060294A → T in ALD; AMN-type. Corresponds to variant dbSNP:rs1131691954Ensembl.1
Natural variantiVAR_009370296Y → C in ALD. Corresponds to variant dbSNP:rs797044610EnsemblClinVar.1
Natural variantiVAR_009371298G → D in ALD. 2 Publications1
Natural variantiVAR_013348300E → EVGQ in ALD. 1 Publication1
Natural variantiVAR_009372302E → K in ALD. 1
Natural variantiVAR_075285316Q → P in ALD. 1 Publication1
Natural variantiVAR_009373322L → P in ALD. 1
Natural variantiVAR_009374336K → M in ALD. 1
Natural variantiVAR_013349339W → R in ALD. 1
Natural variantiVAR_000061342S → P in ALD; AMN-type. 1
Natural variantiVAR_013350343G → D in ALD. 1
Natural variantiVAR_023005343G → S in ALD. 1 Publication1
Natural variantiVAR_000062389R → G in ALD; AMN-type. 1 PublicationCorresponds to variant dbSNP:rs128624215EnsemblClinVar.1
Natural variantiVAR_000063389R → H in ALD; does not affect protein stability, homo- and heterodimerization with ALDR and PMP70. 1 PublicationCorresponds to variant dbSNP:rs886044777EnsemblClinVar.1
Natural variantiVAR_000064401R → Q in ALD; ALD and AMN-types; does not affect protein stability, homo- and heterodimerization with ALDR and PMP70. 6 PublicationsCorresponds to variant dbSNP:rs128624219EnsemblClinVar.1
Natural variantiVAR_009375401R → W in ALD. 2 Publications1
Natural variantiVAR_000065418R → W in ALD; AMN-type. 4 PublicationsCorresponds to variant dbSNP:rs128624220EnsemblClinVar.1
Natural variantiVAR_013351427Missing in ALD. 1
Natural variantiVAR_000066484P → R in ALD; CALD, AMN and ADO-types; significantly decreases homodimerization and abolishes heterodimerization with ALDR and PMP70. 1 PublicationCorresponds to variant dbSNP:rs128624214EnsemblClinVar.1
Natural variantiVAR_023006503L → P in ALD. 1 Publication1
Natural variantiVAR_000067507G → V in ALD; CALD-types. 1
Natural variantiVAR_000068512G → S in ALD; CALD and AS-types; reduced ATPase activity. 1 Publication1
Natural variantiVAR_023007514S → R in ALD. 1 Publication1
Natural variantiVAR_000069515S → F in ALD. 1 PublicationCorresponds to variant dbSNP:rs128624223EnsemblClinVar.1
Natural variantiVAR_067328516L → P in ALD. 1 Publication1
Natural variantiVAR_000070518R → Q in ALD; CALD-type. 2 PublicationsCorresponds to variant dbSNP:rs398123102EnsemblClinVar.1
Natural variantiVAR_000071518R → W in ALD; CALD-type. 1 PublicationCorresponds to variant dbSNP:rs128624224EnsemblClinVar.1
Natural variantiVAR_000072522G → W in ALD; AD-type. 1
Natural variantiVAR_067242523L → F in ALD. 1 Publication1
Natural variantiVAR_000073528Missing in ALD; CALD-type. 1 Publication1
Natural variantiVAR_009376529G → S in ALD. 1 Publication1
Natural variantiVAR_000074534P → L in ALD; CALD-type. 1
Natural variantiVAR_067243540F → C in ALD. 1 Publication1
Natural variantiVAR_009377540F → S in ALD. 1
Natural variantiVAR_009378543P → L in ALD. 2 Publications1
Natural variantiVAR_009379544Q → R in ALD. 1
Natural variantiVAR_009380552S → P in ALD. 1
Natural variantiVAR_009381554R → H in ALD. 2 PublicationsCorresponds to variant dbSNP:rs201568579EnsemblClinVar.1
Natural variantiVAR_013352556Q → R in ALD; ACALD type. 1 Publication1
Natural variantiVAR_000075560P → L in ALD; CALD-type. 3 PublicationsCorresponds to variant dbSNP:rs398123105EnsemblClinVar.1
Natural variantiVAR_000076560P → R in ALD; AMN and ALMD-types. 1
Natural variantiVAR_013353560P → S in ALD. 1
Natural variantiVAR_000077566M → K in ALD. 1
Natural variantiVAR_013354591R → P in ALD. 1
Natural variantiVAR_000078591R → Q in ALD; AMN-type; significantly decreases homodimerization and abolishes heterodimerization with ALDR and PMP70. 1 Publication1
Natural variantiVAR_009382591R → W in ALD. Corresponds to variant dbSNP:rs398123106EnsemblClinVar.1
Natural variantiVAR_000079606S → L in ALD; decreased ATP-binding affinity. 2 PublicationsCorresponds to variant dbSNP:rs128624225EnsemblClinVar.1
Natural variantiVAR_000080606S → P in ALD; CALD, AMN and ALMD-types. 2 PublicationsCorresponds to variant dbSNP:rs201774661EnsemblClinVar.1
Natural variantiVAR_013355608G → D in ALD; CALD-type. 1 PublicationCorresponds to variant dbSNP:rs78993751EnsemblClinVar.1
Natural variantiVAR_000081609E → G in ALD. 1
Natural variantiVAR_000082609E → K in ALD; AMN-type. 1 PublicationCorresponds to variant dbSNP:rs150346282EnsemblClinVar.1
Natural variantiVAR_009383616A → V in ALD. 1 Publication1
Natural variantiVAR_000083617R → C in ALD; ALD-type and asymptomatic. 2 PublicationsCorresponds to variant dbSNP:rs4010613EnsemblClinVar.1
Natural variantiVAR_000084617R → G in ALD; ADO and AMN-types with cerebral involvement. 1 Publication1
Natural variantiVAR_000085617R → H in ALD. 2 PublicationsCorresponds to variant dbSNP:rs11146842EnsemblClinVar.1
Natural variantiVAR_013356626A → D in ALD. 1
Natural variantiVAR_000086626A → T in ALD; CALD and AMN-types. 1 Publication1
Natural variantiVAR_000087629D → H in ALD. 1
Natural variantiVAR_009384630E → G in ALD. 1
Natural variantiVAR_009385631C → Y in ALD. 1
Natural variantiVAR_013357632T → I in ALD. Corresponds to variant dbSNP:rs1064793877Ensembl.1
Natural variantiVAR_067244632T → P in ALD. 1 Publication1
Natural variantiVAR_013358633S → I in ALD; asymptomatic. 1 Publication1
Natural variantiVAR_009386633S → R in ALD. 2 Publications1
Natural variantiVAR_013359635V → M in ALD. Corresponds to variant dbSNP:rs201427153Ensembl.1
Natural variantiVAR_009387636S → I in ALD. 1
Natural variantiVAR_009388638D → Y in ALD. 1 Publication1
Natural variantiVAR_067245640E → K in ALD. 1 Publication1
Natural variantiVAR_009389646A → P in ALD. 1 Publication1
Natural variantiVAR_009390654L → P in ALD. 1
Natural variantiVAR_000088657Missing in ALD; CALD-type. 1
Natural variantiVAR_013360660R → P in ALD; CALD-type. 1 Publication1
Natural variantiVAR_067329660R → Q in ALD. 1 Publication1
Natural variantiVAR_000089660R → W in ALD; CALD, ALMD and AS-types. 1
Natural variantiVAR_009391667H → D in ALD. 1
Natural variantiVAR_009392668T → I in ALD. 1
Natural variantiVAR_067246677G → D in ALD. 1 Publication1
Natural variantiVAR_000090679W → R in ALD; AMN-type. 1 Publication1
Natural variantiVAR_009393693T → M in ALD. Corresponds to variant dbSNP:rs782311214Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
Z21876 mRNA Translation: CAA79922.1
Z31348
, Z31006, Z31007, Z31008, Z31009, Z31010 Genomic DNA Translation: CAA83230.1
U52111 Genomic DNA No translation available.
BC015541 mRNA Translation: AAH15541.1
BC025358 mRNA Translation: AAH25358.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS14728.1

Protein sequence database of the Protein Information Resource

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PIRi
G02500

NCBI Reference Sequences

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RefSeqi
NP_000024.2, NM_000033.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.159546

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000218104; ENSP00000218104; ENSG00000101986

Database of genes from NCBI RefSeq genomes

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GeneIDi
215

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:215

UCSC genome browser

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UCSCi
uc004fif.2 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

X-ALD gene mutation database
ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z21876 mRNA Translation: CAA79922.1
Z31348
, Z31006, Z31007, Z31008, Z31009, Z31010 Genomic DNA Translation: CAA83230.1
U52111 Genomic DNA No translation available.
BC015541 mRNA Translation: AAH15541.1
BC025358 mRNA Translation: AAH25358.1
CCDSiCCDS14728.1
PIRiG02500
RefSeqiNP_000024.2, NM_000033.3
UniGeneiHs.159546

3D structure databases

ProteinModelPortaliP33897
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106717, 37 interactors
IntActiP33897, 16 interactors
MINTiP33897
STRINGi9606.ENSP00000218104

Chemistry databases

SwissLipidsiSLP:000000458

Protein family/group databases

TCDBi3.A.1.203.3 the atp-binding cassette (abc) superfamily

PTM databases

iPTMnetiP33897
PhosphoSitePlusiP33897

Polymorphism and mutation databases

BioMutaiABCD1
DMDMi67476960

Proteomic databases

EPDiP33897
MaxQBiP33897
PaxDbiP33897
PeptideAtlasiP33897
PRIDEiP33897
ProteomicsDBi54928

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
215
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000218104; ENSP00000218104; ENSG00000101986
GeneIDi215
KEGGihsa:215
UCSCiuc004fif.2 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
215
DisGeNETi215
EuPathDBiHostDB:ENSG00000101986.11

GeneCards: human genes, protein and diseases

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GeneCardsi
ABCD1
GeneReviewsiABCD1
HGNCiHGNC:61 ABCD1
MalaCardsiABCD1
MIMi300100 phenotype
300371 gene
neXtProtiNX_P33897
OpenTargetsiENSG00000101986
Orphaneti139399 Adrenomyeloneuropathy
369942 CADDS
139396 X-linked cerebral adrenoleukodystrophy
PharmGKBiPA24396

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0064 Eukaryota
COG4178 LUCA
GeneTreeiENSGT00940000154100
HOGENOMiHOG000206081
HOVERGENiHBG050438
InParanoidiP33897
KOiK05675
OMAiEGPLKIR
OrthoDBiEOG091G04M1
PhylomeDBiP33897
TreeFamiTF105205

Enzyme and pathway databases

BRENDAi3.6.3.47 2681
ReactomeiR-HSA-1369062 ABC transporters in lipid homeostasis
R-HSA-2046105 Linoleic acid (LA) metabolism
R-HSA-2046106 alpha-linolenic acid (ALA) metabolism
R-HSA-390247 Beta-oxidation of very long chain fatty acids
R-HSA-5684045 Defective ABCD1 causes adrenoleukodystrophy (ALD)

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ABCD1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ABCD1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
215

Protein Ontology

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PROi
PR:P33897

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000101986 Expressed in 169 organ(s), highest expression level in right adrenal gland
CleanExiHS_ABCD1
ExpressionAtlasiP33897 baseline and differential
GenevisibleiP33897 HS

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR011527 ABC1_TM_dom
IPR036640 ABC1_TM_sf
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR031237 ALDP
IPR005283 FA_transporter
IPR027417 P-loop_NTPase
PANTHERiPTHR11384:SF21 PTHR11384:SF21, 1 hit
PfamiView protein in Pfam
PF06472 ABC_membrane_2, 1 hit
PF00005 ABC_tran, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
SSF90123 SSF90123, 1 hit
TIGRFAMsiTIGR00954 3a01203, 1 hit
PROSITEiView protein in PROSITE
PS50929 ABC_TM1F, 1 hit
PS00211 ABC_TRANSPORTER_1, 1 hit
PS50893 ABC_TRANSPORTER_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiABCD1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P33897
Secondary accession number(s): Q6GTZ2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1994
Last sequence update: June 7, 2005
Last modified: December 5, 2018
This is version 212 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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