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P33897

- ABCD1_HUMAN

UniProt

P33897 - ABCD1_HUMAN

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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

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 homodimerization activity Source: UniProtKB
  8. 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
Complete GO annotation...

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

Topology

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

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
Complete GO annotation...

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

BgeeiP33897.
CleanExiHS_ABCD1.
ExpressionAtlasiP33897. baseline and differential.
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. 21 interactions.
IntActiP33897. 7 interactions.
STRINGi9606.ENSP00000218104.

Structurei

3D structure databases

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

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.
GeneTreeiENSGT00390000003950.
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

« 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)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:
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.

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:
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 .
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. 21 interactions.
IntActi P33897. 7 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.
GeneTreei ENSGT00390000003950.
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

Bgeei P33897.
CleanExi HS_ABCD1.
ExpressionAtlasi P33897. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 171 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

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