KEGG   Homo sapiens (human): 26154Help
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
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)
Transporters [BR:hsa02000]
 ABC Transporters, Eukaryotic Type
  ABCA (ABC1) subfamily
   ABCA1, 2, 3, 4, 7, 12, 13 subgroups
    26154 (ABCA12)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
2q34
AA seq 2595 aa AA seqDB search
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 NT seq  +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

DBGET integrated database retrieval system