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P33897

- ABCD1_HUMAN

UniProt

P33897 - ABCD1_HUMAN

Protein

ATP-binding cassette sub-family D member 1

Gene

ABCD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 169 (01 Oct 2014)
      Sequence version 2 (07 Jun 2005)
      Previous versions | rss
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    Functioni

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

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi507 – 5148ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATPase activity Source: UniProtKB
    2. ATPase activity, coupled to transmembrane movement of substances Source: UniProtKB
    3. ATP binding Source: UniProtKB
    4. enzyme binding Source: UniProtKB
    5. identical protein binding Source: IntAct
    6. peroxisomal fatty-acyl-CoA transporter activity Source: UniProtKB
    7. protein binding Source: UniProtKB
    8. protein homodimerization activity Source: UniProtKB
    9. transporter activity Source: UniProtKB

    GO - Biological processi

    1. alpha-linolenic acid metabolic process Source: Reactome
    2. ATP catabolic process Source: GOC
    3. cellular lipid metabolic process Source: Reactome
    4. fatty acid beta-oxidation Source: UniProtKB
    5. fatty acid beta-oxidation using acyl-CoA oxidase Source: Reactome
    6. linoleic acid metabolic process Source: Reactome
    7. long-chain fatty acid catabolic process Source: UniProtKB
    8. peroxisomal long-chain fatty acid import Source: UniProtKB
    9. peroxisomal membrane transport Source: UniProtKB
    10. peroxisome organization Source: UniProtKB
    11. small molecule metabolic process Source: Reactome
    12. transmembrane transport Source: Reactome
    13. unsaturated fatty acid metabolic process Source: Reactome
    14. very long-chain fatty acid catabolic process Source: UniProtKB

    Keywords - Biological processi

    Transport

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_111158. ABCA transporters in lipid homeostasis.
    REACT_121100. Linoleic acid (LA) metabolism.
    REACT_121147. alpha-linolenic acid (ALA) metabolism.
    REACT_17062. Beta-oxidation of very long chain fatty acids.

    Protein family/group databases

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

    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
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:61. ABCD1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. cytosol Source: Reactome
    3. integral component of peroxisomal membrane Source: UniProtKB
    4. membrane Source: UniProtKB
    5. mitochondrion Source: Ensembl
    6. perinuclear region of cytoplasm Source: UniProtKB
    7. peroxisomal membrane Source: UniProtKB
    8. peroxisome Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, Peroxisome

    Pathology & Biotechi

    Involvement in diseasei

    Adrenoleukodystrophy (ALD) [MIM:300100]: A 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.18 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti13 – 131N → T Very rare polymorphism; does not affect ALDP function. 1 Publication
    Corresponds to variant rs183021839 [ dbSNP | Ensembl ].
    VAR_013340
    Natural varianti88 – 881C → W in ALD. 1 Publication
    VAR_023004
    Natural varianti90 – 901E → K in ALD.
    VAR_009349
    Natural varianti98 – 981S → L in ALD; CALD type. 1 Publication
    VAR_000024
    Natural varianti99 – 991A → D in ALD; AMN-type. 1 Publication
    VAR_013341
    Natural varianti103 – 1031S → R in ALD. 1 Publication
    VAR_009350
    Natural varianti104 – 1041R → C in ALD.
    VAR_000025
    Natural varianti104 – 1041R → H in ALD; ADO-type. 1 Publication
    VAR_000026
    Natural varianti105 – 1051T → I in ALD; ADO-type.
    VAR_000027
    Natural varianti105 – 1051T → P in ALD. 1 Publication
    VAR_009351
    Natural varianti107 – 1071L → P in ALD; ALD/AMN/ADO-types and asymptomatic. 1 Publication
    VAR_000028
    Natural varianti108 – 1081S → L in ALD. 1 Publication
    VAR_009352
    Natural varianti108 – 1081S → W in ALD; CALD and AMN-types.
    VAR_000029
    Natural varianti113 – 1131R → C in ALD.
    VAR_009353
    Natural varianti113 – 1131R → P in ALD.
    VAR_013342
    Natural varianti116 – 1161G → R in ALD; CALD-type. 1 Publication
    VAR_000030
    Natural varianti138 – 1414Missing in ALD; ALD-type.
    VAR_000032
    Natural varianti139 – 1391Missing in ALD. 1 Publication
    VAR_067239
    Natural varianti141 – 1411A → T in ALD.
    VAR_000033
    Natural varianti143 – 1431P → S in ALD. 2 Publications
    VAR_009354
    Natural varianti148 – 1481N → S in ALD; ADO-type. 2 Publications
    VAR_000034
    Natural varianti149 – 1491S → N in ALD.
    VAR_000035
    Natural varianti152 – 1521R → C in ALD; ADO-type. 1 Publication
    VAR_000036
    Natural varianti152 – 1521R → L in ALD.
    VAR_009355
    Natural varianti152 – 1521R → P in ALD.
    VAR_000037
    Natural varianti152 – 1521R → S in ALD. 1 Publication
    VAR_009356
    Natural varianti161 – 1611S → P in ALD.
    VAR_009357
    Natural varianti163 – 1631R → H in ALD.
    VAR_000038
    Natural varianti163 – 1631R → P in ALD.
    VAR_009358
    Natural varianti174 – 1741Y → C in ALD. 1 Publication
    VAR_009359
    Natural varianti174 – 1741Y → D in ALD; ALD-type. 2 Publications
    VAR_000039
    Natural varianti174 – 1741Y → S in ALD; CALD-type.
    VAR_000040
    Natural varianti178 – 1781Q → E in ALD; AMN-type. 1 Publication
    VAR_000041
    Natural varianti181 – 1811Y → C in ALD; ALMD-type. 1 Publication
    VAR_000042
    Natural varianti182 – 1821R → P in ALD.
    VAR_000043
    Natural varianti189 – 1891R → W in ALD. 1 Publication
    VAR_009360
    Natural varianti190 – 1901L → P in ALD. 1 Publication
    VAR_009361
    Natural varianti194 – 1941D → H in ALD.
    VAR_000044
    Natural varianti198 – 1981T → K in ALD.
    VAR_009362
    Natural varianti198 – 1981T → R in ALD. 1 Publication
    VAR_067240
    Natural varianti200 – 2001D → N in ALD.
    VAR_009363
    Natural varianti200 – 2001D → V in ALD; CALD-type.
    VAR_000045
    Natural varianti207 – 2071S → SAAS in ALD.
    VAR_013343
    Natural varianti211 – 2111L → P in ALD.
    VAR_000046
    Natural varianti213 – 2131S → C in ALD.
    VAR_009364
    Natural varianti214 – 2141N → D in ALD.
    VAR_009365
    Natural varianti217 – 2171K → E in ALD. 1 Publication
    VAR_013344
    Natural varianti218 – 2181P → T in ALD. 1 Publication
    VAR_009366
    Natural varianti220 – 2201L → P in ALD.
    VAR_000047
    Natural varianti221 – 2211D → G in ALD; CALD and AMN-types.
    VAR_000048
    Natural varianti224 – 2241V → E in ALD.
    VAR_013345
    Natural varianti229 – 2291L → P in ALD. 1 Publication
    VAR_009367
    Natural varianti254 – 2541T → M in ALD; AMN-type. 1 Publication
    VAR_000049
    Natural varianti254 – 2541T → P in ALD; AMN-type.
    VAR_000050
    Natural varianti263 – 2631P → L in ALD; CALD, AMN and AD-types.
    VAR_000051
    Natural varianti266 – 2661G → E in ALD. 1 Publication
    VAR_067241
    Natural varianti266 – 2661G → R in ALD. 2 Publications
    VAR_000052
    Natural varianti271 – 2711E → K in ALD.
    VAR_009368
    Natural varianti274 – 2741R → W in ALD.
    VAR_013346
    Natural varianti276 – 2761K → E in ALD; CALD-type.
    VAR_000053
    Natural varianti277 – 2771G → GN in ALD; ADO-type.
    VAR_000055
    Natural varianti277 – 2771G → R in ALD; AMN-type.
    VAR_000054
    Natural varianti277 – 2771G → W in ALD.
    VAR_000056
    Natural varianti280 – 2801R → C in ALD.
    VAR_013347
    Natural varianti285 – 2851R → P in ALD.
    VAR_009369
    Natural varianti291 – 2911E → D in ALD; ACALD and CALD-types.
    VAR_000057
    Natural varianti291 – 2911E → K in ALD. 1 Publication
    VAR_000058
    Natural varianti291 – 2911Missing in ALD; ALD-type.
    VAR_000059
    Natural varianti294 – 2941A → T in ALD; AMN-type.
    VAR_000060
    Natural varianti296 – 2961Y → C in ALD.
    VAR_009370
    Natural varianti298 – 2981G → D in ALD. 2 Publications
    VAR_009371
    Natural varianti300 – 3001E → EVGQ in ALD. 1 Publication
    VAR_013348
    Natural varianti302 – 3021E → K in ALD.
    VAR_009372
    Natural varianti322 – 3221L → P in ALD.
    VAR_009373
    Natural varianti336 – 3361K → M in ALD.
    VAR_009374
    Natural varianti339 – 3391W → R in ALD.
    VAR_013349
    Natural varianti342 – 3421S → P in ALD; AMN-type.
    VAR_000061
    Natural varianti343 – 3431G → D in ALD.
    VAR_013350
    Natural varianti343 – 3431G → S in ALD. 1 Publication
    VAR_023005
    Natural varianti389 – 3891R → G in ALD; AMN-type. 1 Publication
    VAR_000062
    Natural varianti389 – 3891R → H in ALD; does not affect protein stability, homo- and heterodimerization with ALDR and PMP70.
    VAR_000063
    Natural varianti401 – 4011R → Q in ALD; ALD and AMN-types; does not affect protein stability, homo- and heterodimerization with ALDR and PMP70. 5 Publications
    VAR_000064
    Natural varianti401 – 4011R → W in ALD. 2 Publications
    VAR_009375
    Natural varianti418 – 4181R → W in ALD; AMN-type. 4 Publications
    VAR_000065
    Natural varianti427 – 4271Missing in ALD.
    VAR_013351
    Natural varianti484 – 4841P → R in ALD; CALD, AMN and ADO-types; significantly decreases homodimerization and abolishes heterodimerization with ALDR and PMP70.
    VAR_000066
    Natural varianti503 – 5031L → P in ALD. 1 Publication
    VAR_023006
    Natural varianti507 – 5071G → V in ALD; CALD-types.
    VAR_000067
    Natural varianti512 – 5121G → S in ALD; CALD and AS-types; reduced ATPase activity.
    VAR_000068
    Natural varianti514 – 5141S → R in ALD. 1 Publication
    VAR_023007
    Natural varianti515 – 5151S → F in ALD. 1 Publication
    VAR_000069
    Natural varianti516 – 5161L → P in ALD. 1 Publication
    VAR_067328
    Natural varianti518 – 5181R → Q in ALD; CALD-type. 2 Publications
    VAR_000070
    Natural varianti518 – 5181R → W in ALD; CALD-type. 1 Publication
    VAR_000071
    Natural varianti522 – 5221G → W in ALD; AD-type.
    VAR_000072
    Natural varianti523 – 5231L → F in ALD. 1 Publication
    VAR_067242
    Natural varianti528 – 5281Missing in ALD; CALD-type. 1 Publication
    VAR_000073
    Natural varianti529 – 5291G → S in ALD. 1 Publication
    VAR_009376
    Natural varianti534 – 5341P → L in ALD; CALD-type.
    VAR_000074
    Natural varianti540 – 5401F → C in ALD. 1 Publication
    VAR_067243
    Natural varianti540 – 5401F → S in ALD.
    VAR_009377
    Natural varianti543 – 5431P → L in ALD. 2 Publications
    VAR_009378
    Natural varianti544 – 5441Q → R in ALD.
    VAR_009379
    Natural varianti552 – 5521S → P in ALD.
    VAR_009380
    Natural varianti554 – 5541R → H in ALD. 2 Publications
    VAR_009381
    Natural varianti556 – 5561Q → R in ALD; ACALD type. 1 Publication
    VAR_013352
    Natural varianti560 – 5601P → L in ALD; CALD-type. 3 Publications
    VAR_000075
    Natural varianti560 – 5601P → R in ALD; AMN and ALMD-types.
    VAR_000076
    Natural varianti560 – 5601P → S in ALD.
    VAR_013353
    Natural varianti566 – 5661M → K in ALD.
    VAR_000077
    Natural varianti591 – 5911R → P in ALD.
    VAR_013354
    Natural varianti591 – 5911R → Q in ALD; AMN-type; significantly decreases homodimerization and abolishes heterodimerization with ALDR and PMP70.
    VAR_000078
    Natural varianti591 – 5911R → W in ALD.
    VAR_009382
    Natural varianti606 – 6061S → L in ALD; decreased ATP-binding affinity. 1 Publication
    VAR_000079
    Natural varianti606 – 6061S → P in ALD; CALD, AMN and ALMD-types. 2 Publications
    VAR_000080
    Natural varianti608 – 6081G → D in ALD; CALD-type. 1 Publication
    VAR_013355
    Natural varianti609 – 6091E → G in ALD.
    VAR_000081
    Natural varianti609 – 6091E → K in ALD; AMN-type. 1 Publication
    VAR_000082
    Natural varianti616 – 6161A → V in ALD. 1 Publication
    VAR_009383
    Natural varianti617 – 6171R → C in ALD; ALD-type and asymptomatic. 2 Publications
    VAR_000083
    Natural varianti617 – 6171R → G in ALD; ADO and AMN-types with cerebral involvement. 1 Publication
    VAR_000084
    Natural varianti617 – 6171R → H in ALD. 2 Publications
    VAR_000085
    Natural varianti626 – 6261A → D in ALD.
    VAR_013356
    Natural varianti626 – 6261A → T in ALD; CALD and AMN-types. 1 Publication
    VAR_000086
    Natural varianti629 – 6291D → H in ALD.
    VAR_000087
    Natural varianti630 – 6301E → G in ALD.
    VAR_009384
    Natural varianti631 – 6311C → Y in ALD.
    VAR_009385
    Natural varianti632 – 6321T → I in ALD.
    VAR_013357
    Natural varianti632 – 6321T → P in ALD. 1 Publication
    VAR_067244
    Natural varianti633 – 6331S → I in ALD; asymptomatic. 1 Publication
    VAR_013358
    Natural varianti633 – 6331S → R in ALD. 2 Publications
    VAR_009386
    Natural varianti635 – 6351V → M in ALD.
    VAR_013359
    Natural varianti636 – 6361S → I in ALD.
    VAR_009387
    Natural varianti638 – 6381D → Y in ALD. 1 Publication
    VAR_009388
    Natural varianti640 – 6401E → K in ALD. 1 Publication
    VAR_067245
    Natural varianti646 – 6461A → P in ALD. 1 Publication
    VAR_009389
    Natural varianti654 – 6541L → P in ALD.
    VAR_009390
    Natural varianti657 – 6571Missing in ALD; CALD-type.
    VAR_000088
    Natural varianti660 – 6601R → P in ALD; CALD-type. 1 Publication
    VAR_013360
    Natural varianti660 – 6601R → Q in ALD. 1 Publication
    VAR_067329
    Natural varianti660 – 6601R → W in ALD; CALD, ALMD and AS-types.
    VAR_000089
    Natural varianti667 – 6671H → D in ALD.
    VAR_009391
    Natural varianti668 – 6681T → I in ALD.
    VAR_009392
    Natural varianti677 – 6771G → D in ALD. 1 Publication
    VAR_067246
    Natural varianti679 – 6791W → R in ALD; AMN-type. 1 Publication
    VAR_000090
    Natural varianti693 – 6931T → M in ALD.
    VAR_009393
    The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and the neighboring gene BCAP31.1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

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

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 745745ATP-binding cassette sub-family D member 1PRO_0000093304Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi214 – 2141N-linked (GlcNAc...)Sequence Analysis
    Modified residuei733 – 7331Phosphoserine2 Publications

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiP33897.
    PaxDbiP33897.
    PeptideAtlasiP33897.
    PRIDEiP33897.

    PTM databases

    PhosphoSiteiP33897.

    Expressioni

    Gene expression databases

    ArrayExpressiP33897.
    BgeeiP33897.
    CleanExiHS_ABCD1.
    GenevestigatoriP33897.

    Organism-specific databases

    HPAiHPA035214.

    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

    Protein-protein interaction databases

    BioGridi106717. 17 interactions.
    IntActiP33897. 6 interactions.
    STRINGi9606.ENSP00000218104.

    Structurei

    3D structure databases

    ProteinModelPortaliP33897.
    SMRiP33897. Positions 466-675.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei92 – 11221HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei131 – 15121HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei238 – 25821HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei333 – 35321HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei473 – 49321HelicalPROSITE-ProRule annotationAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini94 – 386293ABC transmembrane type-1PROSITE-ProRule annotationAdd
    BLAST
    Domaini474 – 700227ABC transporterPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni67 – 186120Interaction with PEX19Add
    BLAST

    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

    eggNOGiCOG4178.
    HOGENOMiHOG000206081.
    HOVERGENiHBG050438.
    InParanoidiP33897.
    KOiK05675.
    OMAiIPKMQRR.
    PhylomeDBiP33897.
    TreeFamiTF105205.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR003593. AAA+_ATPase.
    IPR011527. ABC1_TM_dom.
    IPR010509. ABC_Peroxi_TM.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR005283. FA_transporter.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    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

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    MPVLSRPRPW RGNTLKRTAV LLALAAYGAH KVYPLVRQCL APARGLQAPA    50
    GEPTQEASGV AAAKAGMNRV FLQRLLWLLR LLFPRVLCRE TGLLALHSAA 100
    LVSRTFLSVY VARLDGRLAR CIVRKDPRAF GWQLLQWLLI ALPATFVNSA 150
    IRYLEGQLAL SFRSRLVAHA YRLYFSQQTY YRVSNMDGRL RNPDQSLTED 200
    VVAFAASVAH LYSNLTKPLL DVAVTSYTLL RAARSRGAGT AWPSAIAGLV 250
    VFLTANVLRA FSPKFGELVA EEARRKGELR YMHSRVVANS EEIAFYGGHE 300
    VELALLQRSY QDLASQINLI LLERLWYVML EQFLMKYVWS ASGLLMVAVP 350
    IITATGYSES DAEAVKKAAL EKKEEELVSE RTEAFTIARN LLTAAADAIE 400
    RIMSSYKEVT ELAGYTARVH EMFQVFEDVQ RCHFKRPREL EDAQAGSGTI 450
    GRSGVRVEGP LKIRGQVVDV EQGIICENIP IVTPSGEVVV ASLNIRVEEG 500
    MHLLITGPNG CGKSSLFRIL GGLWPTYGGV LYKPPPQRMF YIPQRPYMSV 550
    GSLRDQVIYP DSVEDMQRKG YSEQDLEAIL DVVHLHHILQ REGGWEAMCD 600
    WKDVLSGGEK QRIGMARMFY HRPKYALLDE CTSAVSIDVE GKIFQAAKDA 650
    GIALLSITHR PSLWKYHTHL LQFDGEGGWK FEKLDSAARL SLTEEKQRLE 700
    QQLAGIPKMQ RRLQELCQIL GEAVAPAHVP APSPQGPGGL QGAST 745
    Length:745
    Mass (Da):82,937
    Last modified:June 7, 2005 - v2
    Checksum:i82F90905F71FFDC8
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti123 – 1231V → A in CAA79922. (PubMed:8441467)Curated
    Sequence conflicti123 – 1231V → A in CAA83230. (PubMed:8441467)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti13 – 131N → T Very rare polymorphism; does not affect ALDP function. 1 Publication
    Corresponds to variant rs183021839 [ dbSNP | Ensembl ].
    VAR_013340
    Natural varianti88 – 881C → W in ALD. 1 Publication
    VAR_023004
    Natural varianti90 – 901E → K in ALD.
    VAR_009349
    Natural varianti98 – 981S → L in ALD; CALD type. 1 Publication
    VAR_000024
    Natural varianti99 – 991A → D in ALD; AMN-type. 1 Publication
    VAR_013341
    Natural varianti103 – 1031S → R in ALD. 1 Publication
    VAR_009350
    Natural varianti104 – 1041R → C in ALD.
    VAR_000025
    Natural varianti104 – 1041R → H in ALD; ADO-type. 1 Publication
    VAR_000026
    Natural varianti105 – 1051T → I in ALD; ADO-type.
    VAR_000027
    Natural varianti105 – 1051T → P in ALD. 1 Publication
    VAR_009351
    Natural varianti107 – 1071L → P in ALD; ALD/AMN/ADO-types and asymptomatic. 1 Publication
    VAR_000028
    Natural varianti108 – 1081S → L in ALD. 1 Publication
    VAR_009352
    Natural varianti108 – 1081S → W in ALD; CALD and AMN-types.
    VAR_000029
    Natural varianti113 – 1131R → C in ALD.
    VAR_009353
    Natural varianti113 – 1131R → P in ALD.
    VAR_013342
    Natural varianti116 – 1161G → R in ALD; CALD-type. 1 Publication
    VAR_000030
    Natural varianti138 – 1414Missing in ALD; ALD-type.
    VAR_000032
    Natural varianti139 – 1391Missing in ALD. 1 Publication
    VAR_067239
    Natural varianti141 – 1411A → T in ALD.
    VAR_000033
    Natural varianti143 – 1431P → S in ALD. 2 Publications
    VAR_009354
    Natural varianti148 – 1481N → S in ALD; ADO-type. 2 Publications
    VAR_000034
    Natural varianti149 – 1491S → N in ALD.
    VAR_000035
    Natural varianti152 – 1521R → C in ALD; ADO-type. 1 Publication
    VAR_000036
    Natural varianti152 – 1521R → L in ALD.
    VAR_009355
    Natural varianti152 – 1521R → P in ALD.
    VAR_000037
    Natural varianti152 – 1521R → S in ALD. 1 Publication
    VAR_009356
    Natural varianti161 – 1611S → P in ALD.
    VAR_009357
    Natural varianti163 – 1631R → H in ALD.
    VAR_000038
    Natural varianti163 – 1631R → P in ALD.
    VAR_009358
    Natural varianti174 – 1741Y → C in ALD. 1 Publication
    VAR_009359
    Natural varianti174 – 1741Y → D in ALD; ALD-type. 2 Publications
    VAR_000039
    Natural varianti174 – 1741Y → S in ALD; CALD-type.
    VAR_000040
    Natural varianti178 – 1781Q → E in ALD; AMN-type. 1 Publication
    VAR_000041
    Natural varianti181 – 1811Y → C in ALD; ALMD-type. 1 Publication
    VAR_000042
    Natural varianti182 – 1821R → P in ALD.
    VAR_000043
    Natural varianti189 – 1891R → W in ALD. 1 Publication
    VAR_009360
    Natural varianti190 – 1901L → P in ALD. 1 Publication
    VAR_009361
    Natural varianti194 – 1941D → H in ALD.
    VAR_000044
    Natural varianti198 – 1981T → K in ALD.
    VAR_009362
    Natural varianti198 – 1981T → R in ALD. 1 Publication
    VAR_067240
    Natural varianti200 – 2001D → N in ALD.
    VAR_009363
    Natural varianti200 – 2001D → V in ALD; CALD-type.
    VAR_000045
    Natural varianti207 – 2071S → SAAS in ALD.
    VAR_013343
    Natural varianti211 – 2111L → P in ALD.
    VAR_000046
    Natural varianti213 – 2131S → C in ALD.
    VAR_009364
    Natural varianti214 – 2141N → D in ALD.
    VAR_009365
    Natural varianti217 – 2171K → E in ALD. 1 Publication
    VAR_013344
    Natural varianti218 – 2181P → T in ALD. 1 Publication
    VAR_009366
    Natural varianti220 – 2201L → P in ALD.
    VAR_000047
    Natural varianti221 – 2211D → G in ALD; CALD and AMN-types.
    VAR_000048
    Natural varianti224 – 2241V → E in ALD.
    VAR_013345
    Natural varianti229 – 2291L → P in ALD. 1 Publication
    VAR_009367
    Natural varianti254 – 2541T → M in ALD; AMN-type. 1 Publication
    VAR_000049
    Natural varianti254 – 2541T → P in ALD; AMN-type.
    VAR_000050
    Natural varianti263 – 2631P → L in ALD; CALD, AMN and AD-types.
    VAR_000051
    Natural varianti266 – 2661G → E in ALD. 1 Publication
    VAR_067241
    Natural varianti266 – 2661G → R in ALD. 2 Publications
    VAR_000052
    Natural varianti271 – 2711E → K in ALD.
    VAR_009368
    Natural varianti274 – 2741R → W in ALD.
    VAR_013346
    Natural varianti276 – 2761K → E in ALD; CALD-type.
    VAR_000053
    Natural varianti277 – 2771G → GN in ALD; ADO-type.
    VAR_000055
    Natural varianti277 – 2771G → R in ALD; AMN-type.
    VAR_000054
    Natural varianti277 – 2771G → W in ALD.
    VAR_000056
    Natural varianti280 – 2801R → C in ALD.
    VAR_013347
    Natural varianti285 – 2851R → P in ALD.
    VAR_009369
    Natural varianti291 – 2911E → D in ALD; ACALD and CALD-types.
    VAR_000057
    Natural varianti291 – 2911E → K in ALD. 1 Publication
    VAR_000058
    Natural varianti291 – 2911Missing in ALD; ALD-type.
    VAR_000059
    Natural varianti294 – 2941A → T in ALD; AMN-type.
    VAR_000060
    Natural varianti296 – 2961Y → C in ALD.
    VAR_009370
    Natural varianti298 – 2981G → D in ALD. 2 Publications
    VAR_009371
    Natural varianti300 – 3001E → EVGQ in ALD. 1 Publication
    VAR_013348
    Natural varianti302 – 3021E → K in ALD.
    VAR_009372
    Natural varianti322 – 3221L → P in ALD.
    VAR_009373
    Natural varianti336 – 3361K → M in ALD.
    VAR_009374
    Natural varianti339 – 3391W → R in ALD.
    VAR_013349
    Natural varianti342 – 3421S → P in ALD; AMN-type.
    VAR_000061
    Natural varianti343 – 3431G → D in ALD.
    VAR_013350
    Natural varianti343 – 3431G → S in ALD. 1 Publication
    VAR_023005
    Natural varianti389 – 3891R → G in ALD; AMN-type. 1 Publication
    VAR_000062
    Natural varianti389 – 3891R → H in ALD; does not affect protein stability, homo- and heterodimerization with ALDR and PMP70.
    VAR_000063
    Natural varianti401 – 4011R → Q in ALD; ALD and AMN-types; does not affect protein stability, homo- and heterodimerization with ALDR and PMP70. 5 Publications
    VAR_000064
    Natural varianti401 – 4011R → W in ALD. 2 Publications
    VAR_009375
    Natural varianti418 – 4181R → W in ALD; AMN-type. 4 Publications
    VAR_000065
    Natural varianti427 – 4271Missing in ALD.
    VAR_013351
    Natural varianti484 – 4841P → R in ALD; CALD, AMN and ADO-types; significantly decreases homodimerization and abolishes heterodimerization with ALDR and PMP70.
    VAR_000066
    Natural varianti503 – 5031L → P in ALD. 1 Publication
    VAR_023006
    Natural varianti507 – 5071G → V in ALD; CALD-types.
    VAR_000067
    Natural varianti512 – 5121G → S in ALD; CALD and AS-types; reduced ATPase activity.
    VAR_000068
    Natural varianti514 – 5141S → R in ALD. 1 Publication
    VAR_023007
    Natural varianti515 – 5151S → F in ALD. 1 Publication
    VAR_000069
    Natural varianti516 – 5161L → P in ALD. 1 Publication
    VAR_067328
    Natural varianti518 – 5181R → Q in ALD; CALD-type. 2 Publications
    VAR_000070
    Natural varianti518 – 5181R → W in ALD; CALD-type. 1 Publication
    VAR_000071
    Natural varianti522 – 5221G → W in ALD; AD-type.
    VAR_000072
    Natural varianti523 – 5231L → F in ALD. 1 Publication
    VAR_067242
    Natural varianti528 – 5281Missing in ALD; CALD-type. 1 Publication
    VAR_000073
    Natural varianti529 – 5291G → S in ALD. 1 Publication
    VAR_009376
    Natural varianti534 – 5341P → L in ALD; CALD-type.
    VAR_000074
    Natural varianti540 – 5401F → C in ALD. 1 Publication
    VAR_067243
    Natural varianti540 – 5401F → S in ALD.
    VAR_009377
    Natural varianti543 – 5431P → L in ALD. 2 Publications
    VAR_009378
    Natural varianti544 – 5441Q → R in ALD.
    VAR_009379
    Natural varianti552 – 5521S → P in ALD.
    VAR_009380
    Natural varianti554 – 5541R → H in ALD. 2 Publications
    VAR_009381
    Natural varianti556 – 5561Q → R in ALD; ACALD type. 1 Publication
    VAR_013352
    Natural varianti560 – 5601P → L in ALD; CALD-type. 3 Publications
    VAR_000075
    Natural varianti560 – 5601P → R in ALD; AMN and ALMD-types.
    VAR_000076
    Natural varianti560 – 5601P → S in ALD.
    VAR_013353
    Natural varianti566 – 5661M → K in ALD.
    VAR_000077
    Natural varianti591 – 5911R → P in ALD.
    VAR_013354
    Natural varianti591 – 5911R → Q in ALD; AMN-type; significantly decreases homodimerization and abolishes heterodimerization with ALDR and PMP70.
    VAR_000078
    Natural varianti591 – 5911R → W in ALD.
    VAR_009382
    Natural varianti606 – 6061S → L in ALD; decreased ATP-binding affinity. 1 Publication
    VAR_000079
    Natural varianti606 – 6061S → P in ALD; CALD, AMN and ALMD-types. 2 Publications
    VAR_000080
    Natural varianti608 – 6081G → D in ALD; CALD-type. 1 Publication
    VAR_013355
    Natural varianti609 – 6091E → G in ALD.
    VAR_000081
    Natural varianti609 – 6091E → K in ALD; AMN-type. 1 Publication
    VAR_000082
    Natural varianti616 – 6161A → V in ALD. 1 Publication
    VAR_009383
    Natural varianti617 – 6171R → C in ALD; ALD-type and asymptomatic. 2 Publications
    VAR_000083
    Natural varianti617 – 6171R → G in ALD; ADO and AMN-types with cerebral involvement. 1 Publication
    VAR_000084
    Natural varianti617 – 6171R → H in ALD. 2 Publications
    VAR_000085
    Natural varianti626 – 6261A → D in ALD.
    VAR_013356
    Natural varianti626 – 6261A → T in ALD; CALD and AMN-types. 1 Publication
    VAR_000086
    Natural varianti629 – 6291D → H in ALD.
    VAR_000087
    Natural varianti630 – 6301E → G in ALD.
    VAR_009384
    Natural varianti631 – 6311C → Y in ALD.
    VAR_009385
    Natural varianti632 – 6321T → I in ALD.
    VAR_013357
    Natural varianti632 – 6321T → P in ALD. 1 Publication
    VAR_067244
    Natural varianti633 – 6331S → I in ALD; asymptomatic. 1 Publication
    VAR_013358
    Natural varianti633 – 6331S → R in ALD. 2 Publications
    VAR_009386
    Natural varianti635 – 6351V → M in ALD.
    VAR_013359
    Natural varianti636 – 6361S → I in ALD.
    VAR_009387
    Natural varianti638 – 6381D → Y in ALD. 1 Publication
    VAR_009388
    Natural varianti640 – 6401E → K in ALD. 1 Publication
    VAR_067245
    Natural varianti646 – 6461A → P in ALD. 1 Publication
    VAR_009389
    Natural varianti654 – 6541L → P in ALD.
    VAR_009390
    Natural varianti657 – 6571Missing in ALD; CALD-type.
    VAR_000088
    Natural varianti660 – 6601R → P in ALD; CALD-type. 1 Publication
    VAR_013360
    Natural varianti660 – 6601R → Q in ALD. 1 Publication
    VAR_067329
    Natural varianti660 – 6601R → W in ALD; CALD, ALMD and AS-types.
    VAR_000089
    Natural varianti667 – 6671H → D in ALD.
    VAR_009391
    Natural varianti668 – 6681T → I in ALD.
    VAR_009392
    Natural varianti677 – 6771G → D in ALD. 1 Publication
    VAR_067246
    Natural varianti679 – 6791W → R in ALD; AMN-type. 1 Publication
    VAR_000090
    Natural varianti693 – 6931T → M in ALD.
    VAR_009393

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.

    Polymorphism databases

    DMDMi67476960.

    Cross-referencesi

    Web resourcesi

    X-ALD gene mutation database
    ABCMdb

    Database for mutations in ABC proteins

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS14728.1.
    PIRi G02500.
    RefSeqi NP_000024.2. NM_000033.3.
    UniGenei Hs.159546.

    3D structure databases

    ProteinModelPortali P33897.
    SMRi P33897. Positions 466-675.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106717. 17 interactions.
    IntActi P33897. 6 interactions.
    STRINGi 9606.ENSP00000218104.

    Protein family/group databases

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

    PTM databases

    PhosphoSitei P33897.

    Polymorphism databases

    DMDMi 67476960.

    Proteomic databases

    MaxQBi P33897.
    PaxDbi P33897.
    PeptideAtlasi P33897.
    PRIDEi P33897.

    Protocols and materials databases

    DNASUi 215.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000218104 ; ENSP00000218104 ; ENSG00000101986 .
    GeneIDi 215.
    KEGGi hsa:215.
    UCSCi uc004fif.2. human.

    Organism-specific databases

    CTDi 215.
    GeneCardsi GC0XP152990.
    GeneReviewsi ABCD1.
    HGNCi HGNC:61. ABCD1.
    HPAi HPA035214.
    MIMi 300100. phenotype.
    300371. gene.
    neXtProti NX_P33897.
    Orphaneti 139399. Adrenomyeloneuropathy.
    369942. CADDS.
    139396. X-linked cerebral adrenoleukodystrophy.
    PharmGKBi PA24396.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG4178.
    HOGENOMi HOG000206081.
    HOVERGENi HBG050438.
    InParanoidi P33897.
    KOi K05675.
    OMAi IPKMQRR.
    PhylomeDBi P33897.
    TreeFami TF105205.

    Enzyme and pathway databases

    Reactomei REACT_111158. ABCA transporters in lipid homeostasis.
    REACT_121100. Linoleic acid (LA) metabolism.
    REACT_121147. alpha-linolenic acid (ALA) metabolism.
    REACT_17062. Beta-oxidation of very long chain fatty acids.

    Miscellaneous databases

    GeneWikii ABCD1.
    GenomeRNAii 215.
    NextBioi 870.
    PROi P33897.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P33897.
    Bgeei P33897.
    CleanExi HS_ABCD1.
    Genevestigatori P33897.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR003593. AAA+_ATPase.
    IPR011527. ABC1_TM_dom.
    IPR010509. ABC_Peroxi_TM.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR005283. FA_transporter.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF06472. ABC_membrane_2. 1 hit.
    PF00005. ABC_tran. 1 hit.
    [Graphical view ]
    SMARTi SM00382. AAA. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    SSF90123. SSF90123. 1 hit.
    TIGRFAMsi TIGR00954. 3a01203. 1 hit.
    PROSITEi PS50929. ABC_TM1F. 1 hit.
    PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters."
      Mosser J., Douar A.-M., Sarde C.-O., Kioschis P., Feil R., Moser H., Poustka A.-M., Mandel J.-L., Aubourg P.
      Nature 361:726-730(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
    2. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Pancreas.
    4. "Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters."
      Liu L.X., Janvier K., Berteaux-Lecellier V., Cartier N., Benarous R., Aubourg P.
      J. Biol. Chem. 274:32738-32743(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBUNIT, CHARACTERIZATION OF VARIANTS ALD HIS-389; GLN-401; ARG-484 AND GLN-591.
    5. "Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters."
      Roerig P., Mayerhofer P., Holzinger A., Gaertner J.
      FEBS Lett. 492:66-72(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CHARACTERIZATION OF VARIANTS ALD SER-512 AND LEU-606.
    6. "Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis."
      Aubourg P., Mosser J., Douar A.-M., Sarde C.-O., Lopez J., Mandel J.-L.
      Biochimie 75:293-302(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    7. "Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p."
      Gloeckner C.J., Mayerhofer P.U., Landgraf P., Muntau A.C., Holzinger A., Gerber J.-K., Kammerer S., Adamski J., Roscher A.A.
      Biochem. Biophys. Res. Commun. 271:144-150(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PEX19.
      Tissue: Brain.
    8. "PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis."
      Sacksteder K.A., Jones J.M., South S.T., Li X., Liu Y., Gould S.J.
      J. Cell Biol. 148:931-944(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PEX19.
    9. Cited for: REVIEW ON VARIANTS.
    10. "ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations."
      Kemp S., Pujol A., Waterham H.R., van Geel B.M., Boehm C.D., Raymond G.V., Cutting G.R., Wanders R.J.A., Moser H.W.
      Hum. Mutat. 18:499-515(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON VARIANTS.
    11. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-733, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    12. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-733, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. "Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy."
      Cartier N., Sarde C.-O., Douar A.-M., Mosser J., Mandel J.-L., Aubourg P.
      Hum. Mol. Genet. 2:1949-1951(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ALD LYS-291.
    15. "Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)."
      Fuchs S., Sarde C.-O., Wedemann H., Schwinger E., Mandel J.-L., Gal A.
      Hum. Mol. Genet. 3:1903-1905(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALD SER-148; ASP-174; ARG-266; GLN-401; TRP-418 AND PHE-515.
    16. "Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene."
      Fanen P., Guidoux S., Sarde C.-O., Mandel J.-L., Goossens M., Aubourg P.
      J. Clin. Invest. 94:516-520(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALD TRP-518; LEU-606; CYS-617 AND HIS-617.
    17. "Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein."
      Ligtenberg M.J.L., Kemp S., Sarde C.-O., van Geel B.M., Kleijer W.J., Barth P.G., Mandel J.-L., van Oost B.A., Bolhuis P.A.
      Am. J. Hum. Genet. 56:44-50(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALD.
    18. "Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes."
      Braun A., Ambach H., Kammerer S., Rolinski B., Stoeckler S., Rabl W., Gaertner J., Zierz S., Roscher A.A.
      Am. J. Hum. Genet. 56:854-861(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALD HIS-104; GLU-178; GLY-528 DEL AND LEU-560.
    19. Cited for: VARIANTS ALD.
    20. "Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy."
      Feigenbaum V., Lombard-Platet G., Guidoux S., Sarde C.-O., Mandel J.-L., Aubourg P.
      Am. J. Hum. Genet. 58:1135-1144(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALD.
    21. "Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy."
      Krasemann E.W., Meier V., Korenke G.C., Hunneman D.H., Hanefeld F.
      Hum. Genet. 97:194-197(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALD PRO-107; ASP-174; MET-254; GLY-389; GLN-401; TRP-418; LYS-609; CYS-617 AND GLY-617.
    22. "First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy."
      Korenke G.C., Krasemann E., Meier V., Beuche W., Hunneman D.H., Hanefeld F.
      Hum. Mutat. Suppl. 1:S204-S206(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ALD ARG-679.
    23. "X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset."
      Wichers M., Kohler W., Brennemann W., Boese V., Sokolowski P., Bidlingmaier F., Ludwig M.
      Hum. Genet. 105:116-119(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALD PRO-105; SER-143; SER-148; PRO-190; ASP-298; SER-529 AND TYR-638.
    24. Cited for: VARIANTS ALD LEU-108 AND SER-143.
    25. "Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described."
      Lachtermacher M.B., Seuanez H.N., Moser A.B., Moser H.W., Smith K.D.
      Hum. Mutat. 15:348-353(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALD ARG-103; ARG-116; SER-152; CYS-174; TRP-189; THR-218; PRO-229; ASP-298; GLN-401; TRP-401; TRP-418; LEU-543; HIS-554; VAL-616; ARG-633 AND PRO-646.
    26. "Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations."
      Lira M.G., Mottes M., Pignatti P.F., Medica I., Uziel G., Cappa M., Bertini E., Rizzuto N., Salviati A.
      Hum. Mutat. 16:271-271(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALD GLN-401; TRP-418; LEU-543 AND ARG-556.
    27. "Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: the first polymorphism causing an amino acid exchange."
      Dvorakova L., Storkanova G., Unterrainer G., Hujova J., Kmoch S., Zeman J., Hrebicek M., Berger J.
      Hum. Mutat. 18:52-60(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALD LEU-98; ASP-99; GLU-217; GLN-518; ASP-608; ILE-633 AND PRO-660, VARIANT THR-13.
    28. "Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP."
      Guimaraes C.P., Lemos M., Menezes I., Coelho T., Sa-Miranda C., Azevedo J.E.
      Hum. Genet. 109:616-622(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ALD VAL-GLY-GLN-300 INS.
    29. "Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders."
      Corzo D., Gibson W., Johnson K., Mitchell G., LePage G., Cox G.F., Casey R., Zeiss C., Tyson H., Cutting G.R., Raymond G.V., Smith K.D., Watkins P.A., Moser A.B., Moser H.W., Steinberg S.J.
      Am. J. Hum. Genet. 70:1520-1531(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME.
    30. "Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy."
      Montagna G., Di Biase A., Cappa M., Melone M.A.B., Piantadosi C., Colabianchi D., Patrono C., Attori L., Cannelli N., Cotrufo R., Salvati S., Santorelli F.M.
      Hum. Mutat. 25:222-222(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALD TRP-88; CYS-152; CYS-181; SER-343; PRO-503; ARG-514 AND HIS-554.
    31. "Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy."
      Shukla P., Gupta N., Gulati S., Ghosh M., Vasisht S., Sharma R., Gupta A.K., Kalra V., Kabra M.
      Clin. Chim. Acta 412:2289-2295(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALD GLN-401; PRO-516; LEU-560; PRO-606 AND GLN-660.
    32. Cited for: VARIANTS ALD LEU-139 DEL; ARG-198; ARG-266; GLU-266; TRP-401; GLN-518; PHE-523; CYS-540; LEU-560; PRO-606; HIS-617; THR-626; PRO-632; ARG-633; LYS-640 AND ASP-677.

    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: October 1, 2014
    This is version 169 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

    External Data

    Dasty 3