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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-Experimental evidence at protein leveli

Functioni

Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi507 – 514ATPPROSITE-ProRule annotation8

GO - Molecular functioni

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

GO - Biological processi

  • alpha-linolenic acid metabolic process Source: Reactome
  • fatty acid beta-oxidation Source: UniProtKB
  • fatty acid beta-oxidation using acyl-CoA oxidase Source: Reactome
  • linoleic acid metabolic process Source: Reactome
  • long-chain fatty acid catabolic process Source: UniProtKB
  • peroxisomal long-chain fatty acid import Source: UniProtKB
  • peroxisomal membrane transport Source: UniProtKB
  • peroxisome organization Source: UniProtKB
  • transmembrane transport Source: Reactome
  • very long-chain fatty acid catabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000101986-MONOMER.
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.

Protein family/group databases

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

Chemistry databases

SwissLipidsiSLP:000000458.

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-binding cassette sub-family D member 1
Alternative name(s):
Adrenoleukodystrophy protein
Short name:
ALDP
Gene namesi
Name:ABCD1
Synonyms:ALD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:61. ABCD1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: Reactome
  • integral component of peroxisomal membrane Source: UniProtKB
  • membrane Source: UniProtKB
  • mitochondrion Source: Ensembl
  • perinuclear region of cytoplasm Source: UniProtKB
  • peroxisomal membrane Source: UniProtKB
  • peroxisome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Peroxisome

Pathology & Biotechi

Involvement in diseasei

Adrenoleukodystrophy (ALD)20 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
Natural variantiVAR_01334013N → T Very rare polymorphism; does not affect ALDP function. 1 PublicationCorresponds to variant rs183021839dbSNPEnsembl.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 rs398123110dbSNPEnsembl.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 rs193922097dbSNPEnsembl.1
Natural variantiVAR_009354143P → S in ALD. 2 Publications1
Natural variantiVAR_000034148N → S in ALD; ADO-type. 2 PublicationsCorresponds to variant rs128624216dbSNPEnsembl.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. 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 rs128624217dbSNPEnsembl.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 Publication1
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 Publication1
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 rs128624218dbSNPEnsembl.1
Natural variantiVAR_009368271E → K in ALD. 1
Natural variantiVAR_013346274R → W in ALD. Corresponds to variant rs782760033dbSNPEnsembl.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 rs193922098dbSNPEnsembl.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 rs128624213dbSNPEnsembl.1
Natural variantiVAR_000059291Missing in ALD; ALD-type. 1
Natural variantiVAR_000060294A → T in ALD; AMN-type. 1
Natural variantiVAR_009370296Y → C in ALD. 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 rs128624215dbSNPEnsembl.1
Natural variantiVAR_000063389R → H in ALD; does not affect protein stability, homo- and heterodimerization with ALDR and PMP70. 1 Publication1
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 rs128624219dbSNPEnsembl.1
Natural variantiVAR_009375401R → W in ALD. 2 Publications1
Natural variantiVAR_000065418R → W in ALD; AMN-type. 4 PublicationsCorresponds to variant rs128624220dbSNPEnsembl.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 rs128624214dbSNPEnsembl.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 rs128624223dbSNPEnsembl.1
Natural variantiVAR_067328516L → P in ALD. 1 Publication1
Natural variantiVAR_000070518R → Q in ALD; CALD-type. 2 PublicationsCorresponds to variant rs398123102dbSNPEnsembl.1
Natural variantiVAR_000071518R → W in ALD; CALD-type. 1 PublicationCorresponds to variant rs128624224dbSNPEnsembl.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 rs201568579dbSNPEnsembl.1
Natural variantiVAR_013352556Q → R in ALD; ACALD type. 1 Publication1
Natural variantiVAR_000075560P → L in ALD; CALD-type. 3 PublicationsCorresponds to variant rs398123105dbSNPEnsembl.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 rs398123106dbSNPEnsembl.1
Natural variantiVAR_000079606S → L in ALD; decreased ATP-binding affinity. 2 PublicationsCorresponds to variant rs128624225dbSNPEnsembl.1
Natural variantiVAR_000080606S → P in ALD; CALD, AMN and ALMD-types. 2 PublicationsCorresponds to variant rs201774661dbSNPEnsembl.1
Natural variantiVAR_013355608G → D in ALD; CALD-type. 1 PublicationCorresponds to variant rs78993751dbSNPEnsembl.1
Natural variantiVAR_000081609E → G in ALD. 1
Natural variantiVAR_000082609E → K in ALD; AMN-type. 1 PublicationCorresponds to variant rs150346282dbSNPEnsembl.1
Natural variantiVAR_009383616A → V in ALD. 1 Publication1
Natural variantiVAR_000083617R → C in ALD; ALD-type and asymptomatic. 2 PublicationsCorresponds to variant rs4010613dbSNPEnsembl.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 rs11146842dbSNPEnsembl.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. 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 rs201427153dbSNPEnsembl.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 rs782311214dbSNPEnsembl.1

The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and the neighboring gene BCAP31.

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi215.
MalaCardsiABCD1.
MIMi300100. phenotype.
OpenTargetsiENSG00000101986.
Orphaneti139399. Adrenomyeloneuropathy.
369942. CADDS.
139396. X-linked cerebral adrenoleukodystrophy.
PharmGKBiPA24396.

Polymorphism and mutation databases

BioMutaiABCD1.
DMDMi67476960.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000933041 – 745ATP-binding cassette sub-family D member 1Add BLAST745

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi214N-linked (GlcNAc...)Sequence analysis1
Modified residuei733PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP33897.
MaxQBiP33897.
PaxDbiP33897.
PeptideAtlasiP33897.
PRIDEiP33897.

PTM databases

iPTMnetiP33897.
PhosphoSitePlusiP33897.

Expressioni

Gene expression databases

BgeeiENSG00000101986.
CleanExiHS_ABCD1.
ExpressionAtlasiP33897. baseline and differential.
GenevisibleiP33897. HS.

Interactioni

Subunit structurei

Can form homodimers and heterodimers with ABCD2/ALDR and ABCD3/PMP70. Dimerization is necessary to form an active transporter. Interacts with PEX19.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself2EBI-81045,EBI-81045
Abcd1P484102EBI-81045,EBI-81118From a different organism.
ABCD3P282882EBI-81045,EBI-80992
PEX19P408553EBI-81045,EBI-594747

GO - Molecular functioni

  • enzyme binding Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi106717. 31 interactors.
IntActiP33897. 16 interactors.
STRINGi9606.ENSP00000218104.

Structurei

3D structure databases

ProteinModelPortaliP33897.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini94 – 386ABC transmembrane type-1PROSITE-ProRule annotationAdd BLAST293
Domaini474 – 700ABC transporterPROSITE-ProRule annotationAdd BLAST227

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni67 – 186Interaction with PEX19Add BLAST120

Sequence similaritiesi

Contains 1 ABC transmembrane type-1 domain.PROSITE-ProRule annotation
Contains 1 ABC transporter domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0064. Eukaryota.
COG4178. LUCA.
GeneTreeiENSGT00390000003950.
HOGENOMiHOG000206081.
HOVERGENiHBG050438.
InParanoidiP33897.
KOiK05675.
OMAiPRVLCRE.
OrthoDBiEOG091G04M1.
PhylomeDBiP33897.
TreeFamiTF105205.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR031237. ALDP.
IPR005283. FA_transporter.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR11384:SF21. PTHR11384:SF21. 1 hit.
PfamiPF06472. ABC_membrane_2. 1 hit.
PF00005. ABC_tran. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
SSF90123. SSF90123. 1 hit.
TIGRFAMsiTIGR00954. 3a01203. 1 hit.
PROSITEiPS50929. ABC_TM1F. 1 hit.
PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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
Checksum:i82F90905F71FFDC8
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 rs183021839dbSNPEnsembl.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 rs398123110dbSNPEnsembl.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 rs193922097dbSNPEnsembl.1
Natural variantiVAR_009354143P → S in ALD. 2 Publications1
Natural variantiVAR_000034148N → S in ALD; ADO-type. 2 PublicationsCorresponds to variant rs128624216dbSNPEnsembl.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. 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 rs128624217dbSNPEnsembl.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 Publication1
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 Publication1
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 rs128624218dbSNPEnsembl.1
Natural variantiVAR_009368271E → K in ALD. 1
Natural variantiVAR_013346274R → W in ALD. Corresponds to variant rs782760033dbSNPEnsembl.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 rs193922098dbSNPEnsembl.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 rs128624213dbSNPEnsembl.1
Natural variantiVAR_000059291Missing in ALD; ALD-type. 1
Natural variantiVAR_000060294A → T in ALD; AMN-type. 1
Natural variantiVAR_009370296Y → C in ALD. 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 rs128624215dbSNPEnsembl.1
Natural variantiVAR_000063389R → H in ALD; does not affect protein stability, homo- and heterodimerization with ALDR and PMP70. 1 Publication1
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 rs128624219dbSNPEnsembl.1
Natural variantiVAR_009375401R → W in ALD. 2 Publications1
Natural variantiVAR_000065418R → W in ALD; AMN-type. 4 PublicationsCorresponds to variant rs128624220dbSNPEnsembl.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 rs128624214dbSNPEnsembl.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 rs128624223dbSNPEnsembl.1
Natural variantiVAR_067328516L → P in ALD. 1 Publication1
Natural variantiVAR_000070518R → Q in ALD; CALD-type. 2 PublicationsCorresponds to variant rs398123102dbSNPEnsembl.1
Natural variantiVAR_000071518R → W in ALD; CALD-type. 1 PublicationCorresponds to variant rs128624224dbSNPEnsembl.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 rs201568579dbSNPEnsembl.1
Natural variantiVAR_013352556Q → R in ALD; ACALD type. 1 Publication1
Natural variantiVAR_000075560P → L in ALD; CALD-type. 3 PublicationsCorresponds to variant rs398123105dbSNPEnsembl.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 rs398123106dbSNPEnsembl.1
Natural variantiVAR_000079606S → L in ALD; decreased ATP-binding affinity. 2 PublicationsCorresponds to variant rs128624225dbSNPEnsembl.1
Natural variantiVAR_000080606S → P in ALD; CALD, AMN and ALMD-types. 2 PublicationsCorresponds to variant rs201774661dbSNPEnsembl.1
Natural variantiVAR_013355608G → D in ALD; CALD-type. 1 PublicationCorresponds to variant rs78993751dbSNPEnsembl.1
Natural variantiVAR_000081609E → G in ALD. 1
Natural variantiVAR_000082609E → K in ALD; AMN-type. 1 PublicationCorresponds to variant rs150346282dbSNPEnsembl.1
Natural variantiVAR_009383616A → V in ALD. 1 Publication1
Natural variantiVAR_000083617R → C in ALD; ALD-type and asymptomatic. 2 PublicationsCorresponds to variant rs4010613dbSNPEnsembl.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 rs11146842dbSNPEnsembl.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. 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 rs201427153dbSNPEnsembl.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 rs782311214dbSNPEnsembl.1

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.

Genome annotation databases

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

Cross-referencesi

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. 31 interactors.
IntActiP33897. 16 interactors.
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.

Protocols and materials databases

DNASUi215.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi215.
DisGeNETi215.
GeneCardsiABCD1.
GeneReviewsiABCD1.
HGNCiHGNC:61. ABCD1.
MalaCardsiABCD1.
MIMi300100. phenotype.
300371. gene.
neXtProtiNX_P33897.
OpenTargetsiENSG00000101986.
Orphaneti139399. Adrenomyeloneuropathy.
369942. CADDS.
139396. X-linked cerebral adrenoleukodystrophy.
PharmGKBiPA24396.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0064. Eukaryota.
COG4178. LUCA.
GeneTreeiENSGT00390000003950.
HOGENOMiHOG000206081.
HOVERGENiHBG050438.
InParanoidiP33897.
KOiK05675.
OMAiPRVLCRE.
OrthoDBiEOG091G04M1.
PhylomeDBiP33897.
TreeFamiTF105205.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000101986-MONOMER.
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.

Miscellaneous databases

GeneWikiiABCD1.
GenomeRNAii215.
PROiP33897.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000101986.
CleanExiHS_ABCD1.
ExpressionAtlasiP33897. baseline and differential.
GenevisibleiP33897. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR031237. ALDP.
IPR005283. FA_transporter.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR11384:SF21. PTHR11384:SF21. 1 hit.
PfamiPF06472. ABC_membrane_2. 1 hit.
PF00005. ABC_tran. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
SSF90123. SSF90123. 1 hit.
TIGRFAMsiTIGR00954. 3a01203. 1 hit.
PROSITEiPS50929. ABC_TM1F. 1 hit.
PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiABCD1_HUMAN
AccessioniPrimary (citable) accession number: P33897
Secondary accession number(s): Q6GTZ2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1994
Last sequence update: June 7, 2005
Last modified: November 30, 2016
This is version 192 of the entry and version 2 of the sequence. [Complete history]
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.

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.