KEGG   Homo sapiens (human): 26154
Entry
26154             CDS       T01001                                 

Gene name
ABCA12, ARCI4A, ARCI4B, ICR2B, LI2
Definition
(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
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)
 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 AAA_21 AAA_30 AAA_23 DUF4162
Other DBs
NCBI-GeneID: 26154
NCBI-ProteinID: NP_775099
OMIM: 607800
HGNC: 14637
Ensembl: ENSG00000144452
Vega: OTTHUMG00000154801
Pharos: Q86UK0(Tbio)
UniProt: Q86UK0 B3KVV3
Position
2q35
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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