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

Gene name
ABCA12, ARCI4A, ARCI4B, ICR2B, LI2
Definition
ATP-binding cassette, sub-family A (ABC1), member 12
Orthology
K05646  
ATP-binding cassette, subfamily A (ABC1), member 12
Organism
hsa  Homo sapiens (human)
Pathway
ABC transporters
Disease
H00733  
Harlequin ichthyosis
H00734  
Lamellar ichthyosis (LI) and Non-bullous congenital ichthyosiform erythroderma (NBCIE)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Membrane transport
   02010 ABC transporters
    26154 (ABCA12)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
2q34
AA seq 2277 aa AA seqDB search
MFTYIKIITSGDSDNITHVWNEDDGQTLSPSSLAAQLLILENFEDALLNISANSPYIPYL
ACVRNVTDSLARGSPENLRLLQSTIRFKKSFLRNGSYEDYFPPVPEVLKSKLSQLRNLTE
LLCESETFSLIEKSCQLSDMSFGSLCEESEFDLQLLEAAELGTEIAASLLYHDNVISKKV
RDLLTGDPSKINLNMDQFLEQALQMNYLENITQLIPIIEAMLHVNNSADASEKPGQLLEM
FKNVEELKEDLRRTTGMSNRTIDKLLAIPIPDNRAEIISQVFWLHSCDTNITTPKLEDAM
KEFCNLSLSERSRQSYLIGLTLLHYLNIYNFTYKVFFPRKDQKPVEKMMELFIRLKEILN
QMASGTHPLLDKMRSLKQMHLPRSVPLTQAMYRSNRMNTPQGSFSTISQALCSQGITTEY
LTAMLPSSQRPKGNHTKDFLTYKLTKEQIASKYGIPINSTPFCFSLYKDIINMPAGPVIW
AFLKPMLLGRILYAPYNPVTKAIMEKSNVTLRQLAELREKSQEWMDKSPLFMNSFHLLNQ
AIPMLQNTLRNPFVQVFVKFSVGLDAVELLKQIDELDILRLKLENNIDIIDQLNTLSSLT
VNISSCVLYDRIQAAKTIDEMEREAKRLYKSNELFGSVIFKLPSNRSWHRGYDSGNVFLP
PVIKYTIRMSLKTAQTTRSLRTKIWAPGPHNSPSHNQIYGRAFIYLQDSIERAIIELQTG
RNSQEIAVQVQAIPYPCFMKDNFLTSVSYSLPIVLMVAWVVFIAAFVKKLVYEKDLRLHE
YMKMMGVNSCSHFFAWLIESVGFLLVTIVILIIILKFGNILPKTNGFILFLYFSDYSFSV
IAMSYLISVFFNNTNIAALIGSLIYIIAFFPFIVLVTVENELSYVLKVFMSLLSPTAFSY
ASQYIARYEEQGIGLQWENMYTSPVQDDTTSFGWLCCLILADSFIYFLIAWYVRNVFPGT
YGMAAPWYFPILPSYWKERFGCAEVKPEKSNGLMFTNIMMQNTNPSASPEYMFSSNIEPE
PKDLTVGVALHGVTKIYGSKVAVDNLNLNFYEGHITSLLGPNGAGKTTTISMLTGLFGAS
AGTIFVYGKDIKTDLHTVRKNMGVCMQHDVLFSYLTTKEHLLLYGSIKVPHWTKKQLHEE
VKRTLKDTGLYSHRHKRVGTLSGGMKRKLSISIALIGGSRVVILDEPSTGVDPCSRRSIW
DVISKNKTARTIILSTHHLDEAEVLSDRIAFLEQGGLRCCGSPFYLKEAFGDGYHLTLTK
KKSPNLNANAVCDTMAVTAMIQSHLPEAYLKEDIGGELVYVLPPFSTKVSGAYLSLLRAL
DNGMGDLNIGCYGISDTTVEEVFLNLTKESQKNSAMSLEHLTQKKIGNSNANGISTPDDL
SVSSSNFTDRDDKILTRGERLDGFGLLLKKIMAILIKRFHHTRRNWKGLIAQVILPIVFV
TTAMGLGTLRNSSNSYPEIQISPSLYGTSEQTAFYANYHPSTEALVSAMWDFPGIDNMCL
NTSDLQCLNKDSLEKWNTSGEPITNFGVCSCSENVQECPKFNYSPPHRRTYSSQVIYNLT
GQRVENYLISTANEFVQKRYGGWSFGLPLTKDLRFDITGVPANRTLAKVWYDPEGYHSLP
AYLNSLNNFLLRVNMSKYDAARHGIIMYSHPYPGVQDQEQATISSLIDILVALSILMGYS
VTTASFVTYVVREHQTKAKQLQHISGIGVTCYWVTNFIYDMVFYLVPVAFSIGIIAIFKL
PAFYSENNLGAVSLLLLLFGYATFSWMYLLAGLFHETGMAFITYVCVNLFFGINSIVSLS
VVYFLSKEKPNDPTLELISETLKRIFLIFPQFCFGYGLIELSQQQSVLDFLKAYGVEYPN
ETFEMNKLGAMFVALVSQGTMFFSLRLLINESLIKKLRLFFRKFNSSHVRETIDEDEDVR
AERLRVESGAAEFDLVQLYCLTKTYQLIHKKIIAVNNISIGIPAGECFGLLGVNGAGKTT
IFKMLTGDIIPSSGNILIRNKTGSLGHVDSHSSLVGYCPQEDALDDLVTVEEHLYFYARV
HGIPEKDIKETVHKLLRRLHLMPFKDRATSMCSYGTKRKLSTALALIGKPSILLLDEPSS
GMDPKSKRHLWKIISEEVQNKCSVILTSHSMEECEALCTRLAIMVNGKFQCIGSLQHIKS
RFGRGFTVKVHLKNNKVTMETLTKFMQLHFPKTYLKDQHLSMLEYHVPVTAGGVANIFDL
LETNKTALNITNFLVSQTTLEEVFINFAKDQKSYETADTSSQGSTISVDSQDDQMES
NT seq 6834 nt NT seq  +upstreamnt  +downstreamnt
atgtttacctatataaaaattattacttcaggtgactccgataatataacgcatgtgtgg
aatgaggatgatggacagaccttatctccaagcagtctggctgcacagctcctaattctg
gaaaactttgaagatgccctcttaaatatatcagcaaatagtccttatattccttacttg
gcatgtgtgagaaatgtgactgacagtttggccagaggttcaccagaaaatctaagactc
ctgcagtccacaatacgatttaaaaaatcttttcttcgcaatggttcctatgaagattac
tttcctccagttcctgaagtcctaaaatcaaaactgtctcaacttcgaaacttgaccgaa
cttctttgtgaatctgaaactttcagtttgatagagaagtcatgccagctctctgatatg
agctttgggagcctgtgtgaagaaagtgagtttgatctgcaactcctcgaagcggcagag
ctgggcaccgaaatagcagccagcttactgtaccatgacaatgtcatatctaaaaaagtg
agagatttgctgactggagatccaagcaaaattaatttaaatatggatcagtttctagaa
caggcactgcaaatgaattacttggaaaatatcactcagttaataccgatcatagaagcc
atgctgcatgtcaataacagtgcagatgcttctgaaaagccaggtcagttactagaaatg
tttaaaaatgttgaagagctgaaagaagatttaaggagaacaacaggaatgtccaacagg
actattgacaagttgctggccattcccatccctgataatagagctgagattatttctcag
gtgttctggctgcattcctgtgatactaatatcaccactcccaaactagaagatgcaatg
aaagaattctgcaacctgtctctttcagagagatcccggcagtcttacctcatcggactc
acccttctgcactacttaaacatttacaacttcacatacaaggtgtttttcccgaggaaa
gatcaaaagccagtagaaaagatgatggagctcttcataagactaaaagagattctcaat
cagatggcttctggcacacatccgctgctagacaaaatgagatccctgaagcaaatgcat
ctgcccagaagtgttccattaacacaggcaatgtacagaagcaaccgaatgaacacacca
caaggatcatttagcaccatctcccaagcattatgttctcaaggaattaccactgaatat
ttaactgccatgctgccctcttcccagaggccaaaaggcaaccacaccaaggattttttg
acttataaattaactaaagagcaaattgcttcaaaatatggaattcccataaattccaca
ccattttgcttctccctttataaagacatcattaacatgcccgctggacctgtgatttgg
gctttcttgaaacctatgttgttgggaagaattttgtatgcaccatataacccagtcaca
aaggcaataatggaaaagtccaatgtaactctgagacagctggcggaattaagagaaaaa
tctcaagagtggatggataagtcgccacttttcatgaattccttccatctgttaaaccag
gcaattccaatgctccagaatactctaaggaacccttttgtgcaagtttttgtaaagttc
tccgtgggactcgatgctgttgaactattgaaacagatagatgaactcgatattctaaga
ctgaaattagagaacaacattgacatcatcgatcagcttaacacactatcttccctgaca
gtaaatatttcctcttgtgtattatatgaccgtattcaggcagcaaaaaccatagatgaa
atggagagagaggctaaaaggctctacaaaagcaacgaactctttggaagtgttattttt
aagcttccttctaacagaagctggcacagaggctatgactctggaaatgtctttcttcct
cctgtcataaaatataccatccggatgagtctcaagaccgcacagaccacaagaagccta
agaaccaagatttgggctccagggccacacaattctccatcacacaaccagatctatggc
agggcttttatttatttacaggatagtattgaaagagcaatcattgaattgcaaactgga
aggaactcccaggaaatagcagtccaggttcaagcaattccttatccctgcttcatgaaa
gacaacttcctaaccagtgtctcttattctcttccaattgtgcttatggttgcctgggtt
gtatttatagctgcctttgtaaaaaagcttgtctatgagaaagacctccggcttcatgag
tacatgaagatgatgggtgtgaactcctgcagccatttctttgcctggcttatagagagt
gttggatttttactggttaccatcgtgatcctcatcattatactcaagtttggcaatatt
cttcctaaaacaaatgggttcattttgttcctgtatttttcggactacagcttctcggtt
attgccatgagctatcttatcagtgtcttcttcaacaacaccaacattgcagctctgatc
ggaagcctcatctacatcattgccttctttccatttattgttctggttacagtggagaat
gagttgagctatgtattgaaagtgttcatgagcctgctgtccccaacagcattcagctat
gcaagccaatacattgcacgatacgaagaacagggcattggtcttcagtgggaaaatatg
tacacctccccggttcaggatgacaccacctcatttggctggctgtgctgtctaatccta
gctgactctttcatttatttccttattgcttggtatgtcaggaatgtcttcccagggaca
tacggtatggcagctccctggtattttccaattcttccttcctattggaaggagcgattt
gggtgtgcagaggtgaagcctgagaagagcaatggcctcatgtttactaacatcatgatg
cagaacaccaacccatctgccagtcctgaatacatgttttcctctaacatcgagcctgaa
cctaaagatctcacagtcggggttgccctgcatggggtcacaaagatctatggctcaaaa
gttgctgttgataacctcaatctgaacttttatgaagggcatattacttcattgctgggg
cccaatggagctgggaaaactactaccatttccatgttaactgggctgtttggggcctca
gcaggcaccatttttgtatatggaaaagatatcaaaacagacctacacacggtacggaag
aacatgggagtctgtatgcagcacgacgtcttgttcagttacctcactactaaggagcac
cttctcctatatggttccatcaaagttcctcactggactaaaaagcagctccacgaggaa
gtaaaaaggactttaaaagatactggactatatagccatcgtcataagagagttggaaca
ctgtcaggaggcatgaagaggaagttatctatatccatagctctcattggtggatcaagg
gtagtaattttggatgaaccatctactggagttgacccatgttctcgccgaagtatatgg
gatgttatatccaagaacaaaactgccagaacaatcattctgtcaacgcaccacttggac
gaggctgaagtgctgagtgaccgcatcgccttcctggagcagggtgggcttaggtgctgt
gggtccccattttacctcaaggaagcctttggcgatgggtatcacctcacgcttaccaag
aagaagagtccaaatttaaatgcaaatgcagtatgtgacaccatggccgtgacagcaatg
atccaatcacatctccccgaagcctacctcaaggaggatattgggggagagcttgtttat
gtacttcctccattcagcaccaaagtctcaggggcctacctgtcactcctacgggcactc
gacaatggcatgggtgacctcaacatcgggtgctacggcatttcagataccaccgtggag
gaggtctttctgaacttgaccaaagagtcacaaaaaaatagtgctatgagtcttgagcac
ttaacacaaaagaaaattgggaattccaatgccaatggcatctcaactcctgacgattta
tctgtgagcagcagcaatttcacagacagagatgacaaaatcctgacaagaggagagagg
ctggatggctttggactgttgctgaagaagatcatggctatactcatcaagaggttccac
cacacccgcaggaactggaaaggtctcattgctcaggttatcctccccatcgtctttgtt
accactgccatgggccttggcacactgagaaattccagcaacagttatccagagattcag
atctccccctctctttatggtacctccgaacagacagccttctatgctaattatcacccg
agcacggaagcacttgtctcagcaatgtgggacttccctggaattgacaacatgtgtctg
aacaccagtgatctacagtgtttaaacaaagacagtctggaaaaatggaacaccagtgga
gaacccatcactaattttggtgtttgctcctgctcagaaaatgtccaggaatgtcctaaa
tttaactattccccaccgcacagaagaacttactcatcccaggtaatttataacctcact
gggcaacgagtggaaaattatcttatatcaactgcaaatgagtttgtccaaaaaagatat
ggaggttggagttttgggctgcctttgacaaaagaccttcgttttgatataacaggagtc
cctgccaatagaacacttgccaaggtatggtatgatccagaaggctatcactcccttcca
gcttacctcaacagcctgaataatttccttctgcgagttaacatgtcaaaatacgatgct
gcccgacatggcatcatcatgtatagccatccttatccaggagtgcaagaccaagaacaa
gccacaatcagcagtttaatcgatattttagtggcactgtctatcttgatgggctactct
gtcaccaccgccagctttgtcacctatgttgtaagggaacatcaaaccaaagccaaacag
ttgcagcacatttcaggcattggcgtgacatgctactgggtaacaaacttcatttatgac
atggttttctacttggtgcctgtagcgttttcaattggtatcattgcgattttcaaatta
cctgcattctacagtgaaaacaacctaggcgctgtatctctcctacttctcctgtttggg
tatgcaacattttcctggatgtacttgctggctgggctcttccatgaaacaggaatggcc
ttcatcacttacgtctgtgtcaacttgttttttggcattaattccattgtttccctgtca
gtggtatactttctttccaaggaaaagcctaatgatccgactttagaacttatttctgaa
accctcaagcgcattttcctgattttcccacaattctgttttggctacggtttgattgaa
ctttctcaacaacagtcggtcctagacttcttaaaagcatatggagtggaatacccaaat
gaaacctttgagatgaataaactaggtgcaatgtttgtggctttggtttctcagggcacc
atgtttttttccttgcgactcttaatcaacgaatccctgataaagaaactcaggcttttc
ttcagaaaatttaattcttcacatgtaagggagacaatagatgaggatgaagatgtgcgg
gctgagagattaagagttgagagtggtgcagctgaatttgacttggtccaactttattgt
ctcacaaagacctaccaacttatccacaaaaagattatagctgtaaacaacatcagcatt
gggatacctgctggagagtgttttgggcttcttggagtgaatggagcaggaaagaccact
atattcaagatgctgacaggagacatcattccttcaagtggaaacattctgatcagaaat
aagaccggatctctgggtcacgttgattctcacagctcattagttggctactgtcctcag
gaagatgccttagatgacctggtaactgtggaagaacatttgtatttctatgccagggta
catggaattccagaaaaggatattaaagaaactgttcataaactccttaggagacttcac
ctgatgcccttcaaggacagagctacctctatgtgcagttatggcacaaaaagaaaatta
tccactgcactggccttgatagggaaaccttccattctactgctggatgagccgagctct
ggcatggatccgaagtcgaaacggcacctctggaagatcatttcagaagaagtacagaac
aaatgttccgtcatcctcacatctcacagcatggaagaatgtgaagctctctgtaccagg
ttggccattatggtgaatggaaagtttcaatgtattggatctttgcagcacataaagagc
aggtttggacgaggatttactgtcaaagttcacttgaagaataacaaagtgaccatggag
accctcacaaagttcatgcagctgcactttccaaaaacatacttaaaagatcagcacctc
agcatgctagagtatcatgtaccagtcacagcaggaggagtcgcaaacatttttgatctg
ctggaaaccaacaagactgctttaaatattacaaatttcttagtgagtcagaccactctg
gaagaggttttcatcaactttgccaaagaccagaagtcctatgaaactgctgataccagc
agccaaggttccactataagtgttgactcacaagatgaccagatggagtcttaa

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