KEGG   Homo sapiens (human): 215
Entry
215               CDS       T01001                                 

Gene name
ABCD1, ABC42, ALD, ALDP, AMN
Definition
(RefSeq) ATP binding cassette subfamily D member 1
  KO
K05675  ATP-binding cassette, subfamily D (ALD), member 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa02010  ABC transporters
hsa04146  Peroxisome
Disease
H00176  Adrenoleukodystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09131 Membrane transport
   02010 ABC transporters
    215 (ABCD1)
 09140 Cellular Processes
  09141 Transport and catabolism
   04146 Peroxisome
    215 (ABCD1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    215 (ABCD1)
Transporters [BR:hsa02000]
 ABC transporters, eukaryotic type
  ABCD (ALD) subfamily
   ABCD1 subgroup
    215 (ABCD1)
SSDB
Motif
Pfam: ABC_membrane_2 ABC_tran AAA_21 Cyto_heme_lyase AAA_29 AAA_23 Rad17 SMC_N AAA_16 Adeno_IVa2
Other DBs
NCBI-GeneID: 215
NCBI-ProteinID: NP_000024
OMIM: 300371
HGNC: 61
Ensembl: ENSG00000101986
Vega: OTTHUMG00000024215
Pharos: P33897(Tbio)
UniProt: P33897
Position
Xq28
AA seq 745 aa
MPVLSRPRPWRGNTLKRTAVLLALAAYGAHKVYPLVRQCLAPARGLQAPAGEPTQEASGV
AAAKAGMNRVFLQRLLWLLRLLFPRVLCRETGLLALHSAALVSRTFLSVYVARLDGRLAR
CIVRKDPRAFGWQLLQWLLIALPATFVNSAIRYLEGQLALSFRSRLVAHAYRLYFSQQTY
YRVSNMDGRLRNPDQSLTEDVVAFAASVAHLYSNLTKPLLDVAVTSYTLLRAARSRGAGT
AWPSAIAGLVVFLTANVLRAFSPKFGELVAEEARRKGELRYMHSRVVANSEEIAFYGGHE
VELALLQRSYQDLASQINLILLERLWYVMLEQFLMKYVWSASGLLMVAVPIITATGYSES
DAEAVKKAALEKKEEELVSERTEAFTIARNLLTAAADAIERIMSSYKEVTELAGYTARVH
EMFQVFEDVQRCHFKRPRELEDAQAGSGTIGRSGVRVEGPLKIRGQVVDVEQGIICENIP
IVTPSGEVVVASLNIRVEEGMHLLITGPNGCGKSSLFRILGGLWPTYGGVLYKPPPQRMF
YIPQRPYMSVGSLRDQVIYPDSVEDMQRKGYSEQDLEAILDVVHLHHILQREGGWEAMCD
WKDVLSGGEKQRIGMARMFYHRPKYALLDECTSAVSIDVEGKIFQAAKDAGIALLSITHR
PSLWKYHTHLLQFDGEGGWKFEKLDSAARLSLTEEKQRLEQQLAGIPKMQRRLQELCQIL
GEAVAPAHVPAPSPQGPGGLQGAST
NT seq 2238 nt   +upstreamnt  +downstreamnt
atgccggtgctctccaggccccggccctggcgggggaacacgctgaagcgcacggccgtg
ctcctggccctcgcggcctatggagcccacaaagtctaccccttggtgcgccagtgcctg
gccccggccaggggtcttcaggcgcccgccggggagcccacgcaggaggcctccggggtc
gcggcggccaaagctggcatgaaccgggtattcctgcagcggctcctgtggctcctgcgg
ctgctgttcccccgggtcctgtgccgggagacggggctgctggccctgcactcggccgcc
ttggtgagccgcaccttcctgtcggtgtatgtggcccgcctggacggaaggctggcccgc
tgcatcgtccgcaaggacccgcgggcttttggctggcagctgctgcagtggctcctcatc
gccctccctgctaccttcgtcaacagtgccatccgttacctggagggccaactggccctg
tcgttccgcagccgtctggtggcccacgcctaccgcctctacttctcccagcagacctac
taccgggtcagcaacatggacgggcggcttcgcaaccctgaccagtctctgacggaggac
gtggtggcctttgcggcctctgtggcccacctctactccaacctgaccaagccactcctg
gacgtggctgtgacttcctacaccctgcttcgggcggcccgctcccgtggagccggcaca
gcctggccctcggccatcgccggcctcgtggtgttcctcacggccaacgtgctgcgggcc
ttctcgcccaagttcggggagctggtggcagaggaggcgcggcggaagggggagctgcgc
tacatgcactcgcgtgtggtggccaactcggaggagatcgccttctatgggggccatgag
gtggagctggccctgctacagcgctcctaccaggacctggcctcgcagatcaacctcatc
cttctggaacgcctgtggtatgttatgctggagcagttcctcatgaagtatgtgtggagc
gcctcgggcctgctcatggtggctgtccccatcatcactgccactggctactcagagtca
gatgcagaggccgtgaagaaggcagccttggaaaagaaggaggaggagctggtgagcgag
cgcacagaagccttcactattgcccgcaacctcctgacagcggctgcagatgccattgag
cggatcatgtcgtcgtacaaggaggtgacggagctggctggctacacagcccgggtgcac
gagatgttccaggtatttgaagatgttcagcgctgtcacttcaagaggcccagggagcta
gaggacgctcaggcggggtctgggaccataggccggtctggtgtccgtgtggagggcccc
ctgaagatccgaggccaggtggtggatgtggaacaggggatcatctgcgagaacatcccc
atcgtcacgccctcaggagaggtggtggtggccagcctcaacatcagggtggaggaaggc
atgcatctgctcatcacaggccccaatggctgcggcaagagctccctgttccggatcctg
ggtgggctctggcccacgtacggtggtgtgctctacaagcccccaccccagcgcatgttc
tacatcccgcagaggccctacatgtctgtgggctccctgcgtgaccaggtgatctacccg
gactcagtggaggacatgcaaaggaagggctactcggagcaggacctggaagccatcctg
gacgtcgtgcacctgcaccacatcctgcagcgggagggaggttgggaggctatgtgtgac
tggaaggacgtcctgtcgggtggcgagaagcagagaatcggcatggcccgcatgttctac
cacaggcccaagtacgccctcctggatgaatgcaccagcgccgtgagcatcgacgtggaa
ggcaagatcttccaggcggccaaggacgcgggcattgccctgctctccatcacccaccgg
ccctccctgtggaaataccacacacacttgctacagttcgatggggagggcggctggaag
ttcgagaagctggactcagctgcccgcctgagcctgacggaggagaagcagcggctggag
cagcagctggcgggcattcccaagatgcagcggcgcctccaggagctctgccagatcctg
ggcgaggccgtggccccagcgcatgtgccggcacctagcccgcaaggccctggtggcctc
cagggtgcctccacctga

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