KEGG T01001: 215

Homo sapiens (human): 215

Entry

215 CDS T01001

Gene name

ABCD1, ABC42, ALD, ALDP, AMN

Definition

ATP-binding cassette, sub-family D (ALD), member 1

Orthology

K05675

ATP-binding cassette, subfamily D (ALD), member 1

Organism

hsa Homo sapiens (human)

Pathway

hsa02010	ABC transporters
hsa04146	Peroxisome

Disease

H00176

Adrenoleukodystrophy (ALD)

Class

Environmental Information Processing; Membrane transport; ABC transporters [PATH:hsa02010]
Cellular Processes; Transport and catabolism; Peroxisome [PATH:hsa04146]

SSDB

Motif

Pfam:

ABC_membrane_2 ABC_tran AAA_21 AAA_29 AAA_23 MutS_V SMC_N Adeno_IVa2 Rad17 DUF4482

Other DBs

NCBI-GI:

7262393

NCBI-GeneID:

215

OMIM:

300371

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

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

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (17)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (9)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (2)   
   UniProt (1)   
   RefSeq(pep) (1)   
DNA sequence (17)   
   RefSeq(nuc) (1)   
   GenBank (8)   
   EMBL (8)   
Protein domain (10)   
   Pfam (10)   
All databases (53)   

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