KEGG   Homo sapiens (human): 5205Help
Entry
5205              CDS       T01001                                 

Gene name
ATP8B1, ATPIC, BRIC, FIC1, ICP1, PFIC, PFIC1
Definition
(RefSeq) ATPase phospholipid transporting 8B1
  KO
K01530  phospholipid-translocating ATPase [EC:7.6.2.1]
Organism
hsa  Homo sapiens (human)
Disease
H00624  Progressive familial intrahepatic cholestasis
H02192  Benign recurrent intrahepatic cholestasis
H02193  Intrahepatic cholestasis of pregnancy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09191 Unclassified: metabolism
   99980 Enzymes with EC numbers
    5205 (ATP8B1)
Enzymes [BR:hsa01000]
 7. Translocases
  7.6  Catalysing the translocation of other compounds
   7.6.2  Linked to the hydrolysis of a nucleoside triphosphate
    7.6.2.1  P-type phospholipid transporter
     5205 (ATP8B1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PhoLip_ATPase_C PhoLip_ATPase_N Cation_ATPase Hydrolase E1-E2_ATPase Hydrolase_3 MAP17
Motif
Other DBs
NCBI-GeneID: 5205
NCBI-ProteinID: NP_005594
OMIM: 602397
HGNC: 3706
Ensembl: ENSG00000081923
Vega: OTTHUMG00000180255
Pharos: O43520(Tbio)
UniProt: O43520
Position
18q21.31
AA seq 1251 aa AA seqDB search
MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRK
ECTWQVKANDRKYHEQPHFMNTKFLCIKESKYANNAIKTYKYNAFTFIPMNLFEQFKRAA
NLYFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEV
IKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCYVETAELDGETNLKFK
MSLEITDQYLQREDTLATFDGFIECEEPNNRLDKFTGTLFWRNTSFPLDADKILLRGCVI
RNTDFCHGLVIFAGADTKIMKNSGKTRFKRTKIDYLMNYMVYTIFVVLILLSAGLAIGHA
YWEAQVGNSSWYLYDGEDDTPSYRGFLIFWGYIIVLNTMVPISLYVSVEVIRLGQSHFIN
WDLQMYYAEKDTPAKARTTTLNEQLGQIHYIFSDKTGTLTQNIMTFKKCCINGQIYGDHR
DASQHNHNKIEQVDFSWNTYADGKLAFYDHYLIEQIQSGKEPEVRQFFFLLAVCHTVMVD
RTDGQLNYQAASPDEGALVNAARNFGFAFLARTQNTITISELGTERTYNVLAILDFNSDR
KRMSIIVRTPEGNIKLYCKGADTVIYERLHRMNPTKQETQDALDIFANETLRTLCLCYKE
IEEKEFTEWNKKFMAASVASTNRDEALDKVYEEIEKDLILLGATAIEDKLQDGVPETISK
LAKADIKIWVLTGDKKETAENIGFACELLTEDTTICYGEDINSLLHARMENQRNRGGVYA
KFAPPVQESFFPPGGNRALIITGSWLNEILLEKKTKRNKILKLKFPRTEEERRMRTQSKR
RLEAKKEQRQKNFVDLACECSAVICCRVTPKQKAMVVDLVKRYKKAITLAIGDGANDVNM
IKTAHIGVGISGQEGMQAVMSSDYSFAQFRYLQRLLLVHGRWSYIRMCKFLRYFFYKNFA
FTLVHFWYSFFNGYSAQTAYEDWFITLYNVLYTSLPVLLMGLLDQDVSDKLSLRFPGLYI
VGQRDLLFNYKRFFVSLLHGVLTSMILFFIPLGAYLQTVGQDGEAPSDYQSFAVTIASAL
VITVNFQIGLDTSYWTFVNAFSIFGSIALYFGIMFDFHSAGIHVLFPSAFQFTGTASNAL
RQPYIWLTIILAVAVCLLPVVAIRFLSMTIWPSESDKIQKHRKRLKAEEQWQRRQQVFRR
GVSTRRSAYAFSHQRGYADLISSGRSIRKKRSPLDAIVADGTAEYRRTGDS
NT seq 3756 nt NT seq  +upstreamnt  +downstreamnt
atgagtacagaaagagactcagaaacgacatttgacgaggattctcagcctaatgacgaa
gtggttccctacagtgatgatgaaacagaagatgaacttgatgaccaggggtctgctgtt
gaaccagaacaaaaccgagtcaacagggaagcagaggagaaccgggagccattcagaaaa
gaatgtacatggcaagtcaaagcaaacgatcgcaagtaccacgaacaacctcactttatg
aacacaaaattcttgtgtattaaggagagtaaatatgcgaataatgcaattaaaacatac
aagtacaacgcatttacctttataccaatgaatctgtttgagcagtttaagagagcagcc
aatttatatttcctggctcttcttatcttacaggcagttcctcaaatctctaccctggct
tggtacaccacactagtgcccctgcttgtggtgctgggcgtcactgcaatcaaagacctg
gtggacgatgtggctcgccataaaatggataaggaaatcaacaataggacgtgtgaagtc
attaaggatggcaggttcaaagttgctaagtggaaagaaattcaagttggagacgtcatt
cgtctgaaaaaaaatgattttgttccagctgacattctcctgctgtctagctctgagcct
aacagcctctgctatgtggaaacagcagaactggatggagaaaccaatttaaaatttaag
atgtcacttgaaatcacagaccagtacctccaaagagaagatacattggctacatttgat
ggttttattgaatgtgaagaacccaataacagactagataagtttacaggaacactattt
tggagaaacacaagttttcctttggatgctgataaaattttgttacgtggctgtgtaatt
aggaacaccgatttctgccacggcttagtcatttttgcaggtgctgacactaaaataatg
aagaatagtgggaaaaccagatttaaaagaactaaaattgattacttgatgaactacatg
gtttacacgatctttgttgttcttattctgctttctgctggtcttgccatcggccatgct
tattgggaagcacaggtgggcaattcctcttggtacctctatgatggagaagacgataca
ccctcctaccgtggattcctcattttctggggctatatcattgttctcaacaccatggta
cccatctctctctatgtcagcgtggaagtgattcgtcttggacagagtcacttcatcaac
tgggacctgcaaatgtactatgctgagaaggacacacccgcaaaagctagaaccaccaca
ctcaatgaacagctcgggcagatccattatatcttctctgataagacggggacactcaca
caaaatatcatgacctttaaaaagtgctgtatcaacgggcagatatatggggaccatcgg
gatgcctctcaacacaaccacaacaaaatagagcaagttgattttagctggaatacatat
gctgatgggaagcttgcattttatgaccactatcttattgagcaaatccagtcagggaaa
gagccagaagtacgacagttcttcttcttgctcgcagtttgccacacagtcatggtggat
aggactgatggtcagctcaactaccaggcagcctctcccgatgaaggtgccctggtaaac
gctgccaggaactttggctttgccttcctcgccaggacccagaacaccatcaccatcagt
gaactgggcactgaaaggacttacaatgttcttgccattttggacttcaacagtgaccgg
aagcgaatgtctatcattgtaagaaccccagaaggcaatatcaagctttactgtaaaggt
gctgacactgttatttatgaacggttacatcgaatgaatcctactaagcaagaaacacag
gatgccctggatatctttgcaaatgaaactcttagaaccctatgcctttgctacaaggaa
attgaagaaaaagaatttacagaatggaataaaaagtttatggctgccagtgtggcctcc
accaaccgggacgaagctctggataaagtatatgaggagattgaaaaagacttaattctc
ctgggagctacagctattgaagacaagctacaggatggagttccagaaaccatttcaaaa
cttgcaaaagctgacattaagatctgggtgcttactggagacaaaaaggaaactgctgaa
aatataggatttgcttgtgaacttctgactgaagacaccaccatctgctatggggaggat
attaattctcttcttcatgcaaggatggaaaaccagaggaatagaggtggcgtctacgca
aagtttgcacctcctgtgcaggaatctttttttccacccggtggaaaccgtgccttaatc
atcactggttcttggttgaatgaaattcttctcgagaaaaagaccaagagaaataagatt
ctgaagctgaagttcccaagaacagaagaagaaagacggatgcggacccaaagtaaaagg
aggctagaagctaagaaagagcagcggcagaaaaactttgtggacctggcctgcgagtgc
agcgcagtcatctgctgccgcgtcacccccaagcagaaggccatggtggtggacctggtg
aagaggtacaagaaagccatcacgctggccatcggagatggggccaatgacgtgaacatg
atcaaaactgcccacattggcgttggaataagtggacaagaaggaatgcaagctgtcatg
tcgagtgactattcctttgctcagttccgatatctgcagaggctactgctggtgcatggc
cgatggtcttacataaggatgtgcaagttcctacgatacttcttttacaaaaactttgcc
tttactttggttcatttctggtactccttcttcaatggctactctgcgcagactgcatac
gaggattggttcatcaccctctacaacgtgctgtacaccagcctgcccgtgctcctcatg
gggctgctcgaccaggatgtgagtgacaaactgagcctccgattccctgggttatacata
gtgggacaaagagacttactattcaactataagagattctttgtaagcttgttgcatggg
gtcctaacatcgatgatcctcttcttcatacctcttggagcttatctgcaaaccgtaggg
caggatggagaggcaccttccgactaccagtcttttgccgtcaccattgcctctgctctt
gtaataacagtcaatttccagattggcttggatacttcttattggacttttgtgaatgct
ttttcaatttttggaagcattgcactttattttggcatcatgtttgactttcatagtgct
ggaatacatgttctctttccatctgcatttcaatttacaggcacagcttcaaacgctctg
agacagccatacatttggttaactatcatcctggctgttgctgtgtgcttactacccgtc
gttgccattcgattcctgtcaatgaccatctggccatcagaaagtgataagatccagaag
catcgcaagcggttgaaggcggaggagcagtggcagcgacggcagcaggtgttccgccgg
ggcgtgtcaacgcggcgctcggcctacgccttctcgcaccagcggggctacgcggacctc
atctcctccgggcgcagcatccgcaagaagcgctcgccgcttgatgccatcgtggcggat
ggcaccgcggagtacaggcgcaccggggacagctga

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