KEGG   Homo sapiens (human): 26154
Entry
26154             CDS       T01001                                 
Symbol
ABCA12, ARCI4A, ARCI4B, ICR2B, LI2
Name
(RefSeq) ATP binding cassette subfamily A member 12
  KO
K05646  ATP-binding cassette, subfamily A (ABC1), member 12
Organism
hsa  Homo sapiens (human)
Pathway
hsa02010  ABC transporters
hsa04382  Cornified envelope formation
Network
nt06545  Cornified envelope formation
  Element
N01928  Transport of lipids into lamellar body (LB)
Disease
H00733  Harlequin ichthyosis
H00734  Autosomal recessive congenital ichthyosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09131 Membrane transport
   02010 ABC transporters
    26154 (ABCA12)
 09150 Organismal Systems
  09158 Development and regeneration
   04382 Cornified envelope formation
    26154 (ABCA12)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    26154 (ABCA12)
Transporters [BR:hsa02000]
 ABC transporters, eukaryotic type
  ABCA (ABC1) subfamily
   ABCA1, 2, 3, 4, 7, 12, 13 subgroups
    26154 (ABCA12)
SSDB
Motif
Pfam: ABC_tran ABC2_membrane_3 R1_ABCA1 AAA_21 AAA_23 DrrA1-3_C
Other DBs
NCBI-GeneID: 26154
NCBI-ProteinID: NP_775099
OMIM: 607800
HGNC: 14637
Ensembl: ENSG00000144452
UniProt: Q86UK0 B3KVV3
LinkDB
Position
2:complement(214931542..215138626)
AA seq 2595 aa
MASLFHQLQILVWKNWLGVKRQPLWTLVLILWPVIIFIILAITRTKFPPTAKPTCYLAPR
NLPSTGFFPFLQTLLCDTDSKCKDTPYGPQDLLRRKGIDDALFKDSEILRKSSNLDKDSS
LSFQSTQVPERRHASLATVFPSPSSDLEIPGTYTFNGSQVLARILGLEKLLKQNSTSEDI
RRELCDSYSGYIVDDAFSWTFLGRNVFNKFCLSNMTLLESSLQELNKQFSQLSSDPNNQK
IVFQEIVRMLSFFSQVQEQKAVWQLLSSFPNVFQNDTSLSNLFDVLRKANSVLLVVQKVY
PRFATNEGFRTLQKSVKHLLYTLDSPAQGDSDNITHVWNEDDGQTLSPSSLAAQLLILEN
FEDALLNISANSPYIPYLACVRNVTDSLARGSPENLRLLQSTIRFKKSFLRNGSYEDYFP
PVPEVLKSKLSQLRNLTELLCESETFSLIEKSCQLSDMSFGSLCEESEFDLQLLEAAELG
TEIAASLLYHDNVISKKVRDLLTGDPSKINLNMDQFLEQALQMNYLENITQLIPIIEAML
HVNNSADASEKPGQLLEMFKNVEELKEDLRRTTGMSNRTIDKLLAIPIPDNRAEIISQVF
WLHSCDTNITTPKLEDAMKEFCNLSLSERSRQSYLIGLTLLHYLNIYNFTYKVFFPRKDQ
KPVEKMMELFIRLKEILNQMASGTHPLLDKMRSLKQMHLPRSVPLTQAMYRSNRMNTPQG
SFSTISQALCSQGITTEYLTAMLPSSQRPKGNHTKDFLTYKLTKEQIASKYGIPINSTPF
CFSLYKDIINMPAGPVIWAFLKPMLLGRILYAPYNPVTKAIMEKSNVTLRQLAELREKSQ
EWMDKSPLFMNSFHLLNQAIPMLQNTLRNPFVQVFVKFSVGLDAVELLKQIDELDILRLK
LENNIDIIDQLNTLSSLTVNISSCVLYDRIQAAKTIDEMEREAKRLYKSNELFGSVIFKL
PSNRSWHRGYDSGNVFLPPVIKYTIRMSLKTAQTTRSLRTKIWAPGPHNSPSHNQIYGRA
FIYLQDSIERAIIELQTGRNSQEIAVQVQAIPYPCFMKDNFLTSVSYSLPIVLMVAWVVF
IAAFVKKLVYEKDLRLHEYMKMMGVNSCSHFFAWLIESVGFLLVTIVILIIILKFGNILP
KTNGFILFLYFSDYSFSVIAMSYLISVFFNNTNIAALIGSLIYIIAFFPFIVLVTVENEL
SYVLKVFMSLLSPTAFSYASQYIARYEEQGIGLQWENMYTSPVQDDTTSFGWLCCLILAD
SFIYFLIAWYVRNVFPGTYGMAAPWYFPILPSYWKERFGCAEVKPEKSNGLMFTNIMMQN
TNPSASPEYMFSSNIEPEPKDLTVGVALHGVTKIYGSKVAVDNLNLNFYEGHITSLLGPN
GAGKTTTISMLTGLFGASAGTIFVYGKDIKTDLHTVRKNMGVCMQHDVLFSYLTTKEHLL
LYGSIKVPHWTKKQLHEEVKRTLKDTGLYSHRHKRVGTLSGGMKRKLSISIALIGGSRVV
ILDEPSTGVDPCSRRSIWDVISKNKTARTIILSTHHLDEAEVLSDRIAFLEQGGLRCCGS
PFYLKEAFGDGYHLTLTKKKSPNLNANAVCDTMAVTAMIQSHLPEAYLKEDIGGELVYVL
PPFSTKVSGAYLSLLRALDNGMGDLNIGCYGISDTTVEEVFLNLTKESQKNSAMSLEHLT
QKKIGNSNANGISTPDDLSVSSSNFTDRDDKILTRGERLDGFGLLLKKIMAILIKRFHHT
RRNWKGLIAQVILPIVFVTTAMGLGTLRNSSNSYPEIQISPSLYGTSEQTAFYANYHPST
EALVSAMWDFPGIDNMCLNTSDLQCLNKDSLEKWNTSGEPITNFGVCSCSENVQECPKFN
YSPPHRRTYSSQVIYNLTGQRVENYLISTANEFVQKRYGGWSFGLPLTKDLRFDITGVPA
NRTLAKVWYDPEGYHSLPAYLNSLNNFLLRVNMSKYDAARHGIIMYSHPYPGVQDQEQAT
ISSLIDILVALSILMGYSVTTASFVTYVVREHQTKAKQLQHISGIGVTCYWVTNFIYDMV
FYLVPVAFSIGIIAIFKLPAFYSENNLGAVSLLLLLFGYATFSWMYLLAGLFHETGMAFI
TYVCVNLFFGINSIVSLSVVYFLSKEKPNDPTLELISETLKRIFLIFPQFCFGYGLIELS
QQQSVLDFLKAYGVEYPNETFEMNKLGAMFVALVSQGTMFFSLRLLINESLIKKLRLFFR
KFNSSHVRETIDEDEDVRAERLRVESGAAEFDLVQLYCLTKTYQLIHKKIIAVNNISIGI
PAGECFGLLGVNGAGKTTIFKMLTGDIIPSSGNILIRNKTGSLGHVDSHSSLVGYCPQED
ALDDLVTVEEHLYFYARVHGIPEKDIKETVHKLLRRLHLMPFKDRATSMCSYGTKRKLST
ALALIGKPSILLLDEPSSGMDPKSKRHLWKIISEEVQNKCSVILTSHSMEECEALCTRLA
IMVNGKFQCIGSLQHIKSRFGRGFTVKVHLKNNKVTMETLTKFMQLHFPKTYLKDQHLSM
LEYHVPVTAGGVANIFDLLETNKTALNITNFLVSQTTLEEVFINFAKDQKSYETADTSSQ
GSTISVDSQDDQMES
NT seq 7788 nt   +upstreamnt  +downstreamnt
atggcttccctgtttcatcagcttcagatcctggtctggaaaaattggctaggtgtaaaa
aggcagccgctttggacacttgtcttgatcttatggccagtcattattttcataattttg
gctattactcggaccaaatttcctccaactgcaaaaccaacttgttacctcgcacctcga
aaccttcctagtactggattctttccattcctgcagaccctactctgtgacacagactct
aaatgcaaagacacaccctatggcccacaagatctgcttcgtaggaaaggaattgatgat
gcactatttaaagacagtgagattctgagaaagtcatccaacctggataaggacagcagt
ttatcattccagagcacccaagttccagaaagaaggcatgcatcactagccacagtattt
cccagtccaagttctgatttggaaatccccggaacatatactttcaatggcagtcaagtg
ctcgcacgaattcttggcttggaaaagctgttaaagcaaaattcaacttcagaagatata
cgaagagaactatgtgacagctattcaggatacattgtggatgatgccttctcttggacc
tttctaggaagaaatgtttttaacaaattttgcctttctaacatgacccttttagagtct
tctctccaagaactaaacaaacagttctcccagctatccagtgaccccaacaatcagaag
atagtgtttcaggaaatagtcagaatgctgtctttcttctcacaagtgcaagagcagaaa
gctgtgtggcagcttctgtctagttttccaaatgtgtttcagaatgacacatcactaagc
aatctatttgatgttcttcgaaaggcaaacagtgtgctgctggttgtgcagaaggtttat
ccacgttttgcaactaacgaaggtttcagaaccctccagaagtctgttaaacatctgctg
tacactctggactccccagctcaaggtgactccgataatataacgcatgtgtggaatgag
gatgatggacagaccttatctccaagcagtctggctgcacagctcctaattctggaaaac
tttgaagatgccctcttaaatatatcagcaaatagtccttatattccttacttggcatgt
gtgagaaatgtgactgacagtttggccagaggttcaccagaaaatctaagactcctgcag
tccacaatacgatttaaaaaatcttttcttcgcaatggttcctatgaagattactttcct
ccagttcctgaagtcctaaaatcaaaactgtctcaacttcgaaacttgaccgaacttctt
tgtgaatctgaaactttcagtttgatagagaagtcatgccagctctctgatatgagcttt
gggagcctgtgtgaagaaagtgagtttgatctgcaactcctcgaagcggcagagctgggc
accgaaatagcagccagcttactgtaccatgacaatgtcatatctaaaaaagtgagagat
ttgctgactggagatccaagcaaaattaatttaaatatggatcagtttctagaacaggca
ctgcaaatgaattacttggaaaatatcactcagttaataccgatcatagaagccatgctg
catgtcaataacagtgcagatgcttctgaaaagccaggtcagttactagaaatgtttaaa
aatgttgaagagctgaaagaagatttaaggagaacaacaggaatgtccaacaggactatt
gacaagttgctggccattcccatccctgataatagagctgagattatttctcaggtgttc
tggctgcattcctgtgatactaatatcaccactcccaaactagaagatgcaatgaaagaa
ttctgcaacctgtctctttcagagagatcccggcagtcttacctcatcggactcaccctt
ctgcactacttaaacatttacaacttcacatacaaggtgtttttcccgaggaaagatcaa
aagccagtagaaaagatgatggagctcttcataagactaaaagagattctcaatcagatg
gcttctggcacacatccgctgctagacaaaatgagatccctgaagcaaatgcatctgccc
agaagtgttccattaacacaggcaatgtacagaagcaaccgaatgaacacaccacaagga
tcatttagcaccatctcccaagcattatgttctcaaggaattaccactgaatatttaact
gccatgctgccctcttcccagaggccaaaaggcaaccacaccaaggattttttgacttat
aaattaactaaagagcaaattgcttcaaaatatggaattcccataaattccacaccattt
tgcttctccctttataaagacatcattaacatgcccgctggacctgtgatttgggctttc
ttgaaacctatgttgttgggaagaattttgtatgcaccatataacccagtcacaaaggca
ataatggaaaagtccaatgtaactctgagacagctggcggaattaagagaaaaatctcaa
gagtggatggataagtcgccacttttcatgaattccttccatctgttaaaccaggcaatt
ccaatgctccagaatactctaaggaacccttttgtgcaagtttttgtaaagttctccgtg
ggactcgatgctgttgaactattgaaacagatagatgaactcgatattctaagactgaaa
ttagagaacaacattgacatcatcgatcagcttaacacactatcttccctgacagtaaat
atttcctcttgtgtattatatgaccgtattcaggcagcaaaaaccatagatgaaatggag
agagaggctaaaaggctctacaaaagcaacgaactctttggaagtgttatttttaagctt
ccttctaacagaagctggcacagaggctatgactctggaaatgtctttcttcctcctgtc
ataaaatataccatccggatgagtctcaagaccgcacagaccacaagaagcctaagaacc
aagatttgggctccagggccacacaattctccatcacacaaccagatctatggcagggct
tttatttatttacaggatagtattgaaagagcaatcattgaattgcaaactggaaggaac
tcccaggaaatagcagtccaggttcaagcaattccttatccctgcttcatgaaagacaac
ttcctaaccagtgtctcttattctcttccaattgtgcttatggttgcctgggttgtattt
atagctgcctttgtaaaaaagcttgtctatgagaaagacctccggcttcatgagtacatg
aagatgatgggtgtgaactcctgcagccatttctttgcctggcttatagagagtgttgga
tttttactggttaccatcgtgatcctcatcattatactcaagtttggcaatattcttcct
aaaacaaatgggttcattttgttcctgtatttttcggactacagcttctcggttattgcc
atgagctatcttatcagtgtcttcttcaacaacaccaacattgcagctctgatcggaagc
ctcatctacatcattgccttctttccatttattgttctggttacagtggagaatgagttg
agctatgtattgaaagtgttcatgagcctgctgtccccaacagcattcagctatgcaagc
caatacattgcacgatacgaagaacagggcattggtcttcagtgggaaaatatgtacacc
tccccggttcaggatgacaccacctcatttggctggctgtgctgtctaatcctagctgac
tctttcatttatttccttattgcttggtatgtcaggaatgtcttcccagggacatacggt
atggcagctccctggtattttccaattcttccttcctattggaaggagcgatttgggtgt
gcagaggtgaagcctgagaagagcaatggcctcatgtttactaacatcatgatgcagaac
accaacccatctgccagtcctgaatacatgttttcctctaacatcgagcctgaacctaaa
gatctcacagtcggggttgccctgcatggggtcacaaagatctatggctcaaaagttgct
gttgataacctcaatctgaacttttatgaagggcatattacttcattgctggggcccaat
ggagctgggaaaactactaccatttccatgttaactgggctgtttggggcctcagcaggc
accatttttgtatatggaaaagatatcaaaacagacctacacacggtacggaagaacatg
ggagtctgtatgcagcacgacgtcttgttcagttacctcactactaaggagcaccttctc
ctatatggttccatcaaagttcctcactggactaaaaagcagctccacgaggaagtaaaa
aggactttaaaagatactggactatatagccatcgtcataagagagttggaacactgtca
ggaggcatgaagaggaagttatctatatccatagctctcattggtggatcaagggtagta
attttggatgaaccatctactggagttgacccatgttctcgccgaagtatatgggatgtt
atatccaagaacaaaactgccagaacaatcattctgtcaacgcaccacttggacgaggct
gaagtgctgagtgaccgcatcgccttcctggagcagggtgggcttaggtgctgtgggtcc
ccattttacctcaaggaagcctttggcgatgggtatcacctcacgcttaccaagaagaag
agtccaaatttaaatgcaaatgcagtatgtgacaccatggccgtgacagcaatgatccaa
tcacatctccccgaagcctacctcaaggaggatattgggggagagcttgtttatgtactt
cctccattcagcaccaaagtctcaggggcctacctgtcactcctacgggcactcgacaat
ggcatgggtgacctcaacatcgggtgctacggcatttcagataccaccgtggaggaggtc
tttctgaacttgaccaaagagtcacaaaaaaatagtgctatgagtcttgagcacttaaca
caaaagaaaattgggaattccaatgccaatggcatctcaactcctgacgatttatctgtg
agcagcagcaatttcacagacagagatgacaaaatcctgacaagaggagagaggctggat
ggctttggactgttgctgaagaagatcatggctatactcatcaagaggttccaccacacc
cgcaggaactggaaaggtctcattgctcaggttatcctccccatcgtctttgttaccact
gccatgggccttggcacactgagaaattccagcaacagttatccagagattcagatctcc
ccctctctttatggtacctccgaacagacagccttctatgctaattatcacccgagcacg
gaagcacttgtctcagcaatgtgggacttccctggaattgacaacatgtgtctgaacacc
agtgatctacagtgtttaaacaaagacagtctggaaaaatggaacaccagtggagaaccc
atcactaattttggtgtttgctcctgctcagaaaatgtccaggaatgtcctaaatttaac
tattccccaccgcacagaagaacttactcatcccaggtaatttataacctcactgggcaa
cgagtggaaaattatcttatatcaactgcaaatgagtttgtccaaaaaagatatggaggt
tggagttttgggctgcctttgacaaaagaccttcgttttgatataacaggagtccctgcc
aatagaacacttgccaaggtatggtatgatccagaaggctatcactcccttccagcttac
ctcaacagcctgaataatttccttctgcgagttaacatgtcaaaatacgatgctgcccga
catggcatcatcatgtatagccatccttatccaggagtgcaagaccaagaacaagccaca
atcagcagtttaatcgatattttagtggcactgtctatcttgatgggctactctgtcacc
accgccagctttgtcacctatgttgtaagggaacatcaaaccaaagccaaacagttgcag
cacatttcaggcattggcgtgacatgctactgggtaacaaacttcatttatgacatggtt
ttctacttggtgcctgtagcgttttcaattggtatcattgcgattttcaaattacctgca
ttctacagtgaaaacaacctaggcgctgtatctctcctacttctcctgtttgggtatgca
acattttcctggatgtacttgctggctgggctcttccatgaaacaggaatggccttcatc
acttacgtctgtgtcaacttgttttttggcattaattccattgtttccctgtcagtggta
tactttctttccaaggaaaagcctaatgatccgactttagaacttatttctgaaaccctc
aagcgcattttcctgattttcccacaattctgttttggctacggtttgattgaactttct
caacaacagtcggtcctagacttcttaaaagcatatggagtggaatacccaaatgaaacc
tttgagatgaataaactaggtgcaatgtttgtggctttggtttctcagggcaccatgttt
ttttccttgcgactcttaatcaacgaatccctgataaagaaactcaggcttttcttcaga
aaatttaattcttcacatgtaagggagacaatagatgaggatgaagatgtgcgggctgag
agattaagagttgagagtggtgcagctgaatttgacttggtccaactttattgtctcaca
aagacctaccaacttatccacaaaaagattatagctgtaaacaacatcagcattgggata
cctgctggagagtgttttgggcttcttggagtgaatggagcaggaaagaccactatattc
aagatgctgacaggagacatcattccttcaagtggaaacattctgatcagaaataagacc
ggatctctgggtcacgttgattctcacagctcattagttggctactgtcctcaggaagat
gccttagatgacctggtaactgtggaagaacatttgtatttctatgccagggtacatgga
attccagaaaaggatattaaagaaactgttcataaactccttaggagacttcacctgatg
cccttcaaggacagagctacctctatgtgcagttatggcacaaaaagaaaattatccact
gcactggccttgatagggaaaccttccattctactgctggatgagccgagctctggcatg
gatccgaagtcgaaacggcacctctggaagatcatttcagaagaagtacagaacaaatgt
tccgtcatcctcacatctcacagcatggaagaatgtgaagctctctgtaccaggttggcc
attatggtgaatggaaagtttcaatgtattggatctttgcagcacataaagagcaggttt
ggacgaggatttactgtcaaagttcacttgaagaataacaaagtgaccatggagaccctc
acaaagttcatgcagctgcactttccaaaaacatacttaaaagatcagcacctcagcatg
ctagagtatcatgtaccagtcacagcaggaggagtcgcaaacatttttgatctgctggaa
accaacaagactgctttaaatattacaaatttcttagtgagtcagaccactctggaagag
gttttcatcaactttgccaaagaccagaagtcctatgaaactgctgataccagcagccaa
ggttccactataagtgttgactcacaagatgaccagatggagtcttaa

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