KEGG   Homo sapiens (human): 5825Help
Entry
5825              CDS       T01001                                 

Gene name
ABCD3, ABC43, CBAS5, PMP70, PXMP1, ZWS2
Definition
(RefSeq) ATP binding cassette subfamily D member 3
  KO
K05677  ATP-binding cassette, subfamily D (ALD), member 3
Organism
hsa  Homo sapiens (human)
Pathway
hsa02010  ABC transporters
hsa04146  Peroxisome
Disease
H00628  Congenital bile acid synthesis defect (CBAS)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Membrane transport
   02010 ABC transporters
    5825 (ABCD3)
 Cellular Processes
  Transport and catabolism
   04146 Peroxisome
    5825 (ABCD3)
Transporters [BR:hsa02000]
 ABC Transporters, Eukaryotic Type
  ABCD (ALD) subfamily
   ABCD3 subgroup
    5825 (ABCD3)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: ABC_membrane_2 ABC_tran AAA_23 SMC_N AAA_21 AAA_29 AAA_27 Rad17 IstB_IS21 AAA_16
Motif
Other DBs
NCBI-GeneID: 5825
NCBI-ProteinID: NP_002849
OMIM: 170995
HGNC: 67
Ensembl: ENSG00000117528
Vega: OTTHUMG00000010717
Pharos: P28288(Tbio)
UniProt: P28288
Position
1p21.3
AA seq 659 aa AA seqDB search
MAAFSKYLTARNSSLAGAAFLLLCLLHKRRRALGLHGKKSGKPPLQNNEKEGKKERAVVD
KVFFSRLIQILKIMVPRTFCKETGYLVLIAVMLVSRTYCDVWMIQNGTLIESGIIGRSRK
DFKRYLLNFIAAMPLISLVNNFLKYGLNELKLCFRVRLTKYLYEEYLQAFTYYKMGNLDN
RIANPDQLLTQDVEKFCNSVVDLYSNLSKPFLDIVLYIFKLTSAIGAQGPASMMAYLVVS
GLFLTRLRRPIGKMTITEQKYEGEYRYVNSRLITNSEEIAFYNGNKREKQTVHSVFRKLV
EHLHNFILFRFSMGFIDSIIAKYLATVVGYLVVSRPFLDLSHPRHLKSTHSELLEDYYQS
GRMLLRMSQALGRIVLAGREMTRLAGFTARITELMQVLKDLNHGKYERTMVSQQEKGIEG
VQVIPLIPGAGEIIIADNIIKFDHVPLATPNGDVLIRDLNFEVRSGANVLICGPNGCGKS
SLFRVLGELWPLFGGRLTKPERGKLFYVPQRPYMTLGTLRDQVIYPDGREDQKRKGISDL
VLKEYLDNVQLGHILEREGGWDSVQDWMDVLSGGEKQRMAMARLFYHKPQFAILDECTSA
VSVDVEGYIYSHCRKVGITLFTVSHRKSLWKHHEYYLHMDGRGNYEFKQITEDTVEFGS
NT seq 1980 nt NT seq  +upstreamnt  +downstreamnt
atggcggccttcagcaagtacttgacggcgcgaaactcctcgctggctggtgccgcgttc
ctgctgctctgcctgctccacaagcggcgccgcgccctcggcctgcacggtaagaaaagt
ggaaaaccaccattacagaacaatgagaaagaggggaaaaaggagcgagctgtggtggac
aaggtgtttttctcaaggctcatacagattctgaaaatcatggtccctagaacattttgt
aaagagacaggttacttggtacttattgctgttatgctggtgtctcgaacatattgtgat
gtttggatgattcaaaatgggacactaattgaaagtggtatcattggtcgtagcaggaaa
gatttcaagagatacttactcaacttcatcgctgccatgcctcttatctctctggttaat
aacttcttgaagtatgggttaaatgagcttaaactgtgcttccgagtaaggctcactaaa
tacctctatgaggagtatcttcaagctttcacatattataaaatggggaatctggacaac
agaatagctaatccagaccagctgcttacacaagatgtagaaaaattttgtaacagtgta
gtcgatctgtattcaaatcttagtaagccatttttagacatagttttgtatatctttaag
ttaacgagtgcaattggagctcagggcccagcgagcatgatggcctacttggttgtttct
gggctattcctaactcgacttcgaagacccattggtaagatgacaataactgagcaaaag
tatgaaggagaatatagatatgttaattctcggctcatcacaaacagtgaagaaattgcc
ttttacaatgggaataaaagagaaaagcagacagtccactcagtcttccgaaaactggtg
gaacacctacataatttcattttgtttcggttttcaatgggcttcattgatagtattatt
gccaaataccttgccactgttgttggttacctagttgtcagtcgccctttcttagatttg
tctcatcctcgacatctcaagagtacacattcggaacttctagaggattactaccaaagt
ggaagaatgcttttgcgaatgtctcaagctctgggtcgaatagttttggctgggcgtgaa
atgactagattggccggttttactgctcggattacagaattaatgcaagtactgaaggat
ttaaatcatggcaaatatgagcgcacaatggtctcacaacaggaaaagggtattgaagga
gtacaagtcattcccttgatacctggtgctggagaaatcattattgcagataacattata
aagtttgatcatgttcctttagcaacgccaaatggagatgttttgatccgagaccttaat
tttgaagttcgatctggggctaatgttctaatttgtggtccaaatggctgcggaaagagt
tcacttttccgtgttcttggtgaattatggcctctttttggaggacgtctaactaaacct
gaaagaggaaaattattttatgttcctcagagaccttacatgacccttggaacacttcga
gatcaagtgatatatccagatggacgagaagatcagaaaaggaagggaatttctgaccta
gtactgaaggaatacttagacaatgtccagttgggtcatatccttgaacgtgaaggaggc
tgggacagtgttcaggattggatggacgtactcagtggtggagaaaagcaaagaatggcg
atggcaagattattttatcataaaccccagtttgccattttggatgaatgcacaagtgca
gttagtgtcgacgtggaaggctacatttatagtcattgtcgaaaggttggcatcactctc
ttcactgtgtctcataggaaatctctttggaaacatcatgagtactacctgcatatggat
ggcagaggcaactatgaattcaaacagataacagaagatacagttgagtttggctcttag

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