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|---|---|
| Accession Number: | P33897 |
| Protein Name: | ABCD1 aka ALD |
| Length: | 745 |
| Molecular Weight: | 82937.00 |
| Species: | Homo sapiens (Human) [9606] |
| Number of TMSs: | 4 |
| Location1 / Topology2 / Orientation3: | Peroxisome membrane1 / Multi-pass membrane protein2 |
| Substrate | long-chain fatty acid |
Cross database links:
| RefSeq: | NP_000024.2 |
|---|---|
| Entrez Gene ID: | 215 |
| Pfam: | PF06472 PF00005 |
| OMIM: |
300100 phenotype 300371 gene 300475 phenotype |
| KEGG: | hsa:215 |
Gene Ontology
GO:0005779
C:integral to peroxisomal membrane
GO:0005524
F:ATP binding
GO:0042626
F:ATPase activity, coupled to transmembrane m...
GO:0042802
F:identical protein binding
GO:0005325
F:peroxisomal fatty acyl CoA transporter acti...
GO:0033540
P:fatty acid beta-oxidation using acyl-CoA ox...
GO:0015919
P:peroxisomal membrane transport
GO:0007031
P:peroxisome organization
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References (30)[1] “Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.” Mosser J.et.al. 8441467 [2] “The DNA sequence of the human X chromosome.” Ross M.T.et.al. 15772651 [3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).” The MGC Project Teamet.al. 15489334 [4] “Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.” Liu L.X.et.al. 10551832 [5] “Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters.” Roerig P.et.al. 11248239 [6] “Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis.” Aubourg P.et.al. 8507690 [7] “Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p.” Gloeckner C.J.et.al. 10777694 [8] “PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis.” Sacksteder K.A.et.al. 10704444 [9] “Mutations in the adrenoleukodystrophy gene.” Dodd A.et.al. 9195223 [10] “ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.” Kemp S.et.al. 11748843 [11] “Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis.” Wang B.et.al. 19007248 [12] “Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.” Daub H.et.al. 18691976 [13] “A quantitative atlas of mitotic phosphorylation.” Dephoure N.et.al. 18669648 [14] “Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.” Cartier N.et.al. 7904210 [15] “Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).” Fuchs S.et.al. 7849723 [16] “Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.” Fanen P.et.al. 8040304 [17] “Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.” Ligtenberg M.J.L.et.al. 7825602 [18] “Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.” Braun A.et.al. 7717396 [19] “Mutational analysis of patients with X-linked adrenoleukodystrophy.” Kok F.et.al. 7581394 [20] “Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.” Feigenbaum V.et.al. 8651290 [21] “Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.” Krasemann E.W.et.al. 8566952 [22] “First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.” Korenke G.C.et.al. 9452087 [23] “X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset.” Wichers M.et.al. 10480364 [24] “Two novel missense mutations causing adrenoleukodystrophy in Italian patients.” Perusi C.et.al. 10369742 [25] “Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.” Lachtermacher M.B.et.al. 10737980 [26] “Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations.” Lira M.G.et.al. 10980539 [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.et.al. 11438993 [28] “Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP.” Guimaraes C.P.et.al. 11810273 [29] “Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.” Corzo D.et.al. 11992258 [30] “Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.” Montagna G.et.al. 15643618
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External Searches:
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Analyze:
| Predict TMSs (Predict number of transmembrane segments) | ||||
| FASTA formatted sequence |
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1: MPVLSRPRPW RGNTLKRTAV LLALAAYGAH KVYPLVRQCL APARGLQAPA GEPTQEASGV 61: AAAKAGMNRV FLQRLLWLLR LLFPRVLCRE TGLLALHSAA LVSRTFLSVY VARLDGRLAR 121: CIVRKDPRAF GWQLLQWLLI ALPATFVNSA IRYLEGQLAL SFRSRLVAHA YRLYFSQQTY 181: YRVSNMDGRL RNPDQSLTED VVAFAASVAH LYSNLTKPLL DVAVTSYTLL RAARSRGAGT 241: AWPSAIAGLV VFLTANVLRA FSPKFGELVA EEARRKGELR YMHSRVVANS EEIAFYGGHE 301: VELALLQRSY QDLASQINLI LLERLWYVML EQFLMKYVWS ASGLLMVAVP IITATGYSES 361: DAEAVKKAAL EKKEEELVSE RTEAFTIARN LLTAAADAIE RIMSSYKEVT ELAGYTARVH 421: EMFQVFEDVQ RCHFKRPREL EDAQAGSGTI GRSGVRVEGP LKIRGQVVDV EQGIICENIP 481: IVTPSGEVVV ASLNIRVEEG MHLLITGPNG CGKSSLFRIL GGLWPTYGGV LYKPPPQRMF 541: YIPQRPYMSV GSLRDQVIYP DSVEDMQRKG YSEQDLEAIL DVVHLHHILQ REGGWEAMCD 601: WKDVLSGGEK QRIGMARMFY HRPKYALLDE CTSAVSIDVE GKIFQAAKDA GIALLSITHR 661: PSLWKYHTHL LQFDGEGGWK FEKLDSAARL SLTEEKQRLE QQLAGIPKMQ RRLQELCQIL 721: GEAVAPAHVP APSPQGPGGL QGAST