KEGG   Homo sapiens (human): 21
Entry
21                CDS       T01001                                 
Symbol
ABCA3, ABC-C, ABC3, EST111653, LBM180, SMDP3
Name
(RefSeq) ATP binding cassette subfamily A member 3
  KO
K05643  ATP-binding cassette, subfamily A (ABC1), member 3
Organism
hsa  Homo sapiens (human)
Pathway
hsa02010  ABC transporters
Disease
H01122  Congenital pulmonary alveolar proteinosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09131 Membrane transport
   02010 ABC transporters
    21 (ABCA3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    21 (ABCA3)
Transporters [BR:hsa02000]
 ABC transporters, eukaryotic type
  ABCA (ABC1) subfamily
   ABCA1, 2, 3, 4, 7, 12, 13 subgroups
    21 (ABCA3)
SSDB
Motif
Pfam: ABC_tran ABC2_membrane_3 AAA_21 AAA_23 AAA_22 AAA_15 RsgA_GTPase AAA_29 AAA_30
Other DBs
NCBI-GeneID: 21
NCBI-ProteinID: NP_001080
OMIM: 601615
HGNC: 33
Ensembl: ENSG00000167972
UniProt: Q99758 Q4LE27
Structure
Position
16:complement(2275881..2340728)
AA seq 1704 aa
MAVLRQLALLLWKNYTLQKRKVLVTVLELFLPLLFSGILIWLRLKIQSENVPNATIYPGQ
SIQELPLFFTFPPPGDTWELAYIPSHSDAAKTVTETVRRALVINMRVRGFPSEKDFEDYI
RYDNCSSSVLAAVVFEHPFNHSKEPLPLAVKYHLRFSYTRRNYMWTQTGSFFLKETEGWH
TTSLFPLFPNPGPREPTSPDGGEPGYIREGFLAVQHAVDRAIMEYHADAATRQLFQRLTV
TIKRFPYPPFIADPFLVAIQYQLPLLLLLSFTYTALTIARAVVQEKERRLKEYMRMMGLS
SWLHWSAWFLLFFLFLLIAASFMTLLFCVKVKPNVAVLSRSDPSLVLAFLLCFAISTISF
SFMVSTFFSKANMAAAFGGFLYFFTYIPYFFVAPRYNWMTLSQKLCSCLLSNVAMAMGAQ
LIGKFEAKGMGIQWRDLLSPVNVDDDFCFGQVLGMLLLDSVLYGLVTWYMEAVFPGQFGV
PQPWYFFIMPSYWCGKPRAVAGKEEEDSDPEKALRNEYFEAEPEDLVAGIKIKHLSKVFR
VGNKDRAAVRDLNLNLYEGQITVLLGHNGAGKTTTLSMLTGLFPPTSGRAYISGYEISQD
MVQIRKSLGLCPQHDILFDNLTVAEHLYFYAQLKGLSRQKCPEEVKQMLHIIGLEDKWNS
RSRFLSGGMRRKLSIGIALIAGSKVLILDEPTSGMDAISRRAIWDLLQRQKSDRTIVLTT
HFMDEADLLGDRIAIMAKGELQCCGSSLFLKQKYGAGYHMTLVKEPHCNPEDISQLVHHH
VPNATLESSAGAELSFILPRESTHRFEGLFAKLEKKQKELGIASFGASITTMEEVFLRVG
KLVDSSMDIQAIQLPALQYQHERRASDWAVDSNLCGAMDPSDGIGALIEEERTAVKLNTG
LALHCQQFWAMFLKKAAYSWREWKMVAAQVLVPLTCVTLALLAINYSSELFDDPMLRLTL
GEYGRTVVPFSVPGTSQLGQQLSEHLKDALQAEGQEPREVLGDLEEFLIFRASVEGGGFN
ERCLVAASFRDVGERTVVNALFNNQAYHSPATALAVVDNLLFKLLCGPHASIVVSNFPQP
RSALQAAKDQFNEGRKGFDIALNLLFAMAFLASTFSILAVSERAVQAKHVQFVSGVHVAS
FWLSALLWDLISFLIPSLLLLVVFKAFDVRAFTRDGHMADTLLLLLLYGWAIIPLMYLMN
FFFLGAATAYTRLTIFNILSGIATFLMVTIMRIPAVKLEELSKTLDHVFLVLPNHCLGMA
VSSFYENYETRRYCTSSEVAAHYCKKYNIQYQENFYAWSAPGVGRFVASMAASGCAYLIL
LFLIETNLLQRLRGILCALRRRRTLTELYTRMPVLPEDQDVADERTRILAPSPDSLLHTP
LIIKELSKVYEQRVPLLAVDRLSLAVQKGECFGLLGFNGAGKTTTFKMLTGEESLTSGDA
FVGGHRISSDVGKVRQRIGYCPQFDALLDHMTGREMLVMYARLRGIPERHIGACVENTLR
GLLLEPHANKLVRTYSGGNKRKLSTGIALIGEPAVIFLDEPSTGMDPVARRLLWDTVARA
RESGKAIIITSHSMEECEALCTRLAIMVQGQFKCLGSPQHLKSKFGSGYSLRAKVQSEGQ
QEALEEFKAFVDLTFPGSVLEDEHQGMVHYHLPGRDLSWAKVFGILEKAKEKYGVDDYSV
SQISLEQVFLSFAHLQPPTAEEGR
NT seq 5115 nt   +upstreamnt  +downstreamnt
atggctgtgctcaggcagctggcgctcctcctctggaagaactacaccctgcagaagcgg
aaggtcctggtgacggtcctggaactcttcctgccattgctgttttctgggatcctcatc
tggctccgcttgaagattcagtcggaaaatgtgcccaacgccaccatctacccgggccag
tccatccaggagctgcctctgttcttcaccttccctccgccaggagacacctgggagctt
gcctacatcccttctcacagtgacgctgccaagaccgtcactgagacagtgcgcagggca
cttgtgatcaacatgcgagtgcgcggctttccctccgagaaggactttgaggactacatt
aggtacgacaactgctcgtccagcgtgctggccgccgtggtcttcgagcaccccttcaac
cacagcaaggagcccctgccgctggcggtgaaatatcacctacggttcagttacacacgg
agaaattacatgtggacccaaacaggctcctttttcctgaaagagacagaaggctggcac
actacttcccttttcccgcttttcccaaacccaggaccaagggaacctacatcccctgat
ggcggagaacctgggtacatccgggaaggcttcctggccgtgcagcatgctgtggaccgg
gccatcatggagtaccatgccgatgccgccacacgccagctgttccagagactgacggtg
accatcaagaggttcccgtacccgccgttcatcgcagaccccttcctcgtggccatccag
taccagctgcccctgctgctgctgctcagcttcacctacaccgcgctcaccattgcccgt
gctgtcgtgcaggagaaggaaaggaggctgaaggagtacatgcgcatgatggggctcagc
agctggctgcactggagtgcctggttcctcttgttcttcctcttcctcctcatcgccgcc
tccttcatgaccctgctcttctgtgtcaaggtgaagccaaatgtagccgtgctgtcccgc
agcgacccctccctggtgctcgccttcctgctgtgcttcgccatctctaccatctccttc
agcttcatggtcagcaccttcttcagcaaagccaacatggcagcagccttcggaggcttc
ctctacttcttcacctacatcccctacttcttcgtggcccctcggtacaactggatgact
ctgagccagaagctctgctcctgcctcctgtctaatgtcgccatggcaatgggagcccag
ctcattgggaaatttgaggcgaaaggcatgggcatccagtggcgagacctcctgagtccc
gtcaacgtggacgacgacttctgcttcgggcaggtgctggggatgctgctgctggactct
gtgctctatggcctggtgacctggtacatggaggccgtcttcccagggcagttcggcgtg
cctcagccctggtacttcttcatcatgccctcctattggtgtgggaagccaagggcggtt
gcagggaaggaggaagaagacagtgaccccgagaaagcactcagaaacgagtactttgaa
gccgagccagaggacctggtggcggggatcaagatcaagcacctgtccaaggtgttcagg
gtgggaaataaggacagggcggccgtcagagacctgaacctcaacctgtacgagggacag
atcaccgtcctgctgggccacaacggtgccgggaagaccaccaccctctccatgctcaca
ggtctctttccccccaccagtggacgggcatacatcagcgggtatgaaatttcccaggac
atggttcagatccggaagagcctgggcctgtgcccgcagcacgacatcctgtttgacaac
ttgacagtcgcagagcacctttatttctacgcccagctgaagggcctgtcacgtcagaag
tgccctgaagaagtcaagcagatgctgcacatcatcggcctggaggacaagtggaactca
cggagccgcttcctgagcgggggcatgaggcgcaagctctccatcggcatcgccctcatc
gcaggctccaaggtgctgatactggacgagcccacctcgggcatggacgccatctccagg
agggccatctgggatcttcttcagcggcagaaaagtgaccgcaccatcgtgctgaccacc
cacttcatggacgaggctgacctgctgggagaccgcatcgccatcatggccaagggggag
ctgcagtgctgcgggtcctcgctgttcctcaagcagaaatacggtgccggctatcacatg
acgctggtgaaggagccgcactgcaacccggaagacatctcccagctggtccaccaccac
gtgcccaacgccacgctggagagcagcgctggggccgagctgtctttcatccttcccaga
gagagcacgcacaggtttgaaggtctctttgctaaactggagaagaagcagaaagagctg
ggcattgccagctttggggcatccatcaccaccatggaggaagtcttccttcgggtcggg
aagctggtggacagcagtatggacatccaggccatccagctccctgccctgcagtaccag
cacgagaggcgcgccagcgactgggctgtggacagcaacctctgtggggccatggacccc
tccgacggcattggagccctcatcgaggaggagcgcaccgctgtcaagctcaacactggg
ctcgccctgcactgccagcaattctgggccatgttcctgaagaaggccgcatacagctgg
cgcgagtggaaaatggtggcggcacaggtcctggtgcctctgacctgcgtcaccctggcc
ctcctggccatcaactactcctcggagctcttcgacgaccccatgctgaggctgaccttg
ggcgagtacggcagaaccgtcgtgcccttctcagttcccgggacctcccagctgggtcag
cagctgtcagagcatctgaaagacgcactgcaggctgagggacaggagccccgcgaggtg
ctcggtgacctggaggagttcttgatcttcagggcttctgtggaggggggcggctttaat
gagcggtgccttgtggcagcgtccttcagagatgtgggagagcgcacggtcgtcaacgcc
ttgttcaacaaccaggcgtaccactctccagccactgccctggccgtcgtggacaacctt
ctgttcaagctgctgtgcgggcctcacgcctccattgtggtctccaacttcccccagccc
cggagcgccctgcaggctgccaaggaccagtttaacgagggccggaagggattcgacatt
gccctcaacctgctcttcgccatggcattcttggccagcacgttctccatcctggcggtc
agcgagagggccgtgcaggccaagcatgtgcagtttgtgagtggagtccacgtggccagt
ttctggctctctgctctgctgtgggacctcatctccttcctcatccccagtctgctgctg
ctggtggtgtttaaggccttcgacgtgcgtgccttcacgcgggacggccacatggctgac
accctgctgctgctcctgctctacggctgggccatcatccccctcatgtacctgatgaac
ttcttcttcttgggggcggccactgcctacacgaggctgaccatcttcaacatcctgtca
ggcatcgccaccttcctgatggtcaccatcatgcgcatcccagctgtaaaactggaagaa
ctttccaaaaccctggatcacgtgttcctggtgctgcccaaccactgtctggggatggca
gtcagcagtttctacgagaactacgagacgcggaggtactgcacctcctccgaggtcgcc
gcccactactgcaagaaatataacatccagtaccaggagaacttctatgcctggagcgcc
ccgggggtcggccggtttgtggcctccatggccgcctcagggtgcgcctacctcatcctg
ctcttcctcatcgagaccaacctgcttcagagactcaggggcatcctctgcgccctccgg
aggaggcggacactgacagaattatacacccggatgcctgtgcttcctgaggaccaagat
gtagcggacgagaggacccgcatcctggcccccagtccggactccctgctccacacacct
ctgattatcaaggagctctccaaggtgtacgagcagcgggtgcccctcctggccgtggac
aggctctccctcgcggtgcagaaaggggagtgcttcggcctgctgggcttcaatggagcc
gggaagaccacgactttcaaaatgctgaccggggaggagagcctcacttctggggatgcc
tttgtcgggggtcacagaatcagctctgatgtcggaaaggtgcggcagcggatcggctac
tgcccgcagtttgatgccttgctggaccacatgacaggccgggagatgctggtcatgtac
gctcggctccggggcatccctgagcgccacatcggggcctgcgtggagaacactctgcgg
ggcctgctgctggagccacatgccaacaagctggtcaggacgtacagtggtggtaacaag
cggaagctgagcaccggcatcgccctgatcggagagcctgctgtcatcttcctggacgag
ccgtccactggcatggaccccgtggcccggcgcctgctttgggacaccgtggcacgagcc
cgagagtctggcaaggccatcatcatcacctcccacagcatggaggagtgtgaggccctg
tgcacccggctggccatcatggtgcaggggcagttcaagtgcctgggcagcccccagcac
ctcaagagcaagttcggcagcggctactccctgcgggccaaggtgcagagtgaagggcaa
caggaggcgctggaggagttcaaggccttcgtggacctgacctttccaggcagcgtcctg
gaagatgagcaccaaggcatggtccattaccacctgccgggccgtgacctcagctgggcg
aaggttttcggtattctggagaaagccaaggaaaagtacggcgtggacgactactccgtg
agccagatctcgctggaacaggtcttcctgagcttcgcccacctgcagccgcccaccgca
gaggaggggcgatga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (23)   
   KEGG ORTHOLOGY (1)   
   RefGene (16)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (4)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (27)   
   RefSeq(nuc) (1)   
   GenBank (13)   
   EMBL (13)   
3D Structure (2)   
   PDB (2)   
Protein domain (9)   
   Pfam (9)   
All databases (72)   

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