LOCUS       NM_138813               5095 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens ATPase phospholipid transporting 8B3 (ATP8B3),
            transcript variant 1, mRNA.
ACCESSION   NM_138813 XM_086103
VERSION     NM_138813.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5095)
  AUTHORS   Lee,J.U., Kim,M.K., Park,S.L., Bae,D.J., Chang,H.S., Park,C.S. and
            Park,J.S.
  TITLE     Association of ATP8B3 gene polymorphisms with aspirin-exacerbated
            respiratory disease in asthmatics
  JOURNAL   Pharmacogenet Genomics 32 (8), 281-287 (2022)
   PUBMED   35997042
  REMARK    GeneRIF: Association of ATP8B3 gene polymorphisms with
            aspirin-exacerbated respiratory disease in asthmatics.
REFERENCE   2  (bases 1 to 5095)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   3  (bases 1 to 5095)
  AUTHORS   Bryde,S., Hennrich,H., Verhulst,P.M., Devaux,P.F., Lenoir,G. and
            Holthuis,J.C.
  TITLE     CDC50 proteins are critical components of the human class-1
            P4-ATPase transport machinery
  JOURNAL   J Biol Chem 285 (52), 40562-40572 (2010)
   PUBMED   20961850
REFERENCE   4  (bases 1 to 5095)
  AUTHORS   Scott,L.J., Muglia,P., Kong,X.Q., Guan,W., Flickinger,M.,
            Upmanyu,R., Tozzi,F., Li,J.Z., Burmeister,M., Absher,D.,
            Thompson,R.C., Francks,C., Meng,F., Antoniades,A., Southwick,A.M.,
            Schatzberg,A.F., Bunney,W.E., Barchas,J.D., Jones,E.G., Day,R.,
            Matthews,K., McGuffin,P., Strauss,J.S., Kennedy,J.L., Middleton,L.,
            Roses,A.D., Watson,S.J., Vincent,J.B., Myers,R.M., Farmer,A.E.,
            Akil,H., Burns,D.K. and Boehnke,M.
  TITLE     Genome-wide association and meta-analysis of bipolar disorder in
            individuals of European ancestry
  JOURNAL   Proc Natl Acad Sci U S A 106 (18), 7501-7506 (2009)
   PUBMED   19416921
REFERENCE   5  (bases 1 to 5095)
  AUTHORS   Harris,M.J. and Arias,I.M.
  TITLE     FIC1, a P-type ATPase linked to cholestatic liver disease, has
            homologues (ATP8B2 and ATP8B3) expressed throughout the body
  JOURNAL   Biochim Biophys Acta 1633 (2), 127-131 (2003)
   PUBMED   12880872
REFERENCE   6  (bases 1 to 5095)
  AUTHORS   Halleck,M.S., Lawler,J.F. Jr., Blackshaw,S., Gao,L., Nagarajan,P.,
            Hacker,C., Pyle,S., Newman,J.T., Nakanishi,Y., Ando,H.,
            Weinstock,D., Williamson,P. and Schlegel,R.A.
  TITLE     Differential expression of putative transbilayer amphipath
            transporters
  JOURNAL   Physiol Genomics 1 (3), 139-150 (1999)
   PUBMED   11015572
  REMARK    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA111464.1, BC035162.2,
            AC012615.4 and AC004755.2.
            
            On Jun 2, 2019 this sequence version replaced NM_138813.3.
            
            Summary: The protein encoded by this gene belongs to the family of
            P-type cation transport ATPases, and to the subfamily of
            aminophospholipid-transporting ATPases. The aminophospholipid
            translocases transport phosphatidylserine and
            phosphatidylethanolamine from one side of a bilayer to the other.
            This gene encodes member 3 of phospholipid-transporting ATPase 8B;
            other members of this protein family are located on chromosomes 1,
            15 and 18. Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Apr 2012].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC035162.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000310127.10/ ENSP00000311336.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 DA111464.1         1-9
            10-427              BC035162.2         5-422
            428-428             AC012615.4         3995-3995           c
            429-4801            BC035162.2         424-4796
            4802-4802           AC004755.2         15450-15450         c
            4803-5095           BC035162.2         4798-5090
FEATURES             Location/Qualifiers
     source          1..5095
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..5095
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /note="ATPase phospholipid transporting 8B3"
                     /db_xref="GeneID:148229"
                     /db_xref="HGNC:HGNC:13535"
                     /db_xref="MIM:605866"
     exon            1..91
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            92..487
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     CDS             240..4142
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /EC_number="7.6.2.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ATPase, class I, type 8B, member 3;
                     phospholipid-transporting ATPase IK; probable
                     phospholipid-transporting ATPase IK; aminophospholipid
                     translocase ATP8B3; potential phospholipid-transporting
                     ATPase IK; ATPase, aminophospholipid transporter, class I,
                     type 8B, member 3"
                     /codon_start=1
                     /product="phospholipid-transporting ATPase IK isoform 1"
                     /protein_id="NP_620168.1"
                     /db_xref="CCDS:CCDS45901.1"
                     /db_xref="GeneID:148229"
                     /db_xref="HGNC:HGNC:13535"
                     /db_xref="MIM:605866"
                     /translation="MGTGPAQTPRSTRAGPEPSPAPPGPGDTGDSDVTQEGSGPAGIR
                     GGETVIRAGMGDSPGRGAPERRHKAQPGRARKYEWRPEGPTSMGSLGQREDLQDEDRN
                     SAFTWKVQANNRAYNGQFKEKVILCWQRKKYKTNVIRTAKYNFYSFLPLNLYEQFHRV
                     SNLFFLIIIILQSIPDISTLPWFSLSTPMVCLLFIRATRDLVDDMGRHKSDRAINNRP
                     CQILMGKSFKQKKWQDLCVGDVVCLRKDNIVPADMLLLASTEPSSLCYVETVDIDGET
                     NLKFRQALMVTHKELATIKKMASFQGTVTCEAPNSRMHHFVGCLEWNDKKYSLDIGNL
                     LLRGCRIRNTDTCYGLVIYAGFDTKIMKNCGKIHLKRTKLDLLMNKLVVVIFISVVLV
                     CLVLAFGFGFSVKEFKDHHYYLSGVHGSSVAAESFFVFWSFLILLSVTIPMSMFILSE
                     FIYLGNSVFIDWDVQMYYKPQDVPAKARSTSLNDHLGQVEYIFSDKTGTLTQNILTFN
                     KCCISGRVYGPDSEATTRPKENPYLWNKFADGKLLFHNAALLHLVRTNGDEAVREFWR
                     LLAICHTVMVRESPRERPDQLLYQAASPDEGALVTAARNFGYVFLSRTQDTVTIMELG
                     EERVYQVLAIMDFNSTRKRMSVLVRKPEGAICLYTKGADTVIFERLHRRGAMEFATEE
                     ALAAFAQETLRTLCLAYREVAEDIYEDWQQRHQEASLLLQNRAQALQQLLGATAIEDR
                     LQDGVPETIKCLKKSNIKIWVLTGDKQETAVNIGFACELLSENMLILEEKEISRILET
                     YWENSNNLLTRESLSQVKLALVINGDFLDKLLVSLRKEPRALAQNVNMDEAWQELGQS
                     RRDFLYARRLSLLCRRFGLPLAAPPAQDSRARRSSEVLQERAFVDLASKCQAVICCRV
                     TPKQKALIVALVKKYHQVVTLAIGDGANDINMIKTADVGVGLAGQEGMQAVQNSDFVL
                     GQFCFLQRLLLVHGRWSYVRICKFLRYFFYKSMASMMVQVWFACYNGFTGQPLYEGWF
                     LALFNLLYSTLPVLYIGLFEQDVSAEQSLEKPELYVVGQKDELFNYWVFVQAIAHGVT
                     TSLVNFFMTLWISRDTAGPASFSDHQSFAVVVALSCLLSITMEVILIIKYWTALCVAT
                     ILLSLGFYAIMTTTTQSFWLFRVSPTTFPFLYADLSVMSSPSILLVVLLSVSINTFPV
                     LALRVIFPALKELRAKEEKVEEGPSEEIFTMEPLPHVHRESRARRSSYAFSHREGYAN
                     LITQGTILRRGPGVSSDIASESLDPSDEEAASSPKESQ"
     exon            488..549
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            550..641
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            642..755
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            756..854
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            855..916
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            917..989
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1060
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            1061..1143
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            1144..1302
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            1303..1391
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            1392..1582
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            1583..1791
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            1792..1823
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            1824..1992
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            1993..2181
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            2182..2294
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            2295..2429
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            2430..2541
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            2542..2617
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            2618..2717
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            2718..3084
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            3085..3308
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            3309..3392
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            3393..3632
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            3633..3771
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            3772..3899
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     exon            3900..5095
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5063..5068
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /note="hexamer: AATAAA"
     polyA_site      5095
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /note="major polyA site"
ORIGIN      
        1 gtttcaggac cgttggcacc gggctaacgg ttccaccacg tccgccgccc tggacgcccg
       61 cggcctgccc ccccctgcct ctcctgcgcc gatacacttc gagtggattc tggccatttg
      121 agcattctct ccaactctcc aatccccagt ctgcccccac gggggtctcc cccacctctc
      181 ccccgtccca cagcctaaac ccctcttcgc cctgaacctc ccttttcctc atgcggtgaa
      241 tgggcactgg ccccgctcag actcccagga gcaccagagc tggccctgag ccaagccctg
      301 ccccaccagg acctggggac acgggtgact cagacgtgac tcaggaaggc tcaggtcctg
      361 ctggcatccg cggaggtgag acggtgatca gagctgggat gggagactcc ccaggcagag
      421 gggcacctga gaggaggcac aaggcccagc ctggccgggc taggaagtat gaatggagac
      481 cagaaggccc caccagcatg ggcagcctcg gccagagaga agatctccaa gatgaggaca
      541 ggaactcagc attcacctgg aaggtccagg ccaacaaccg tgcctacaac gggcagttca
      601 aggagaaggt gatcctgtgc tggcaaagga agaaatacaa gaccaatgtc atccgcacgg
      661 ccaagtacaa cttctactcg ttcctgccgc tgaacctgta cgagcagttc caccgcgtgt
      721 ccaacctgtt cttcctcatc atcatcatcc tgcagagcat tcccgacatc tccacgctgc
      781 cctggttctc gctcagtacc cctatggtct gcctcctctt catccgtgcc acccgggacc
      841 tggtggacga catggggaga cacaagagtg acagagccat caacaacaga ccctgccaga
      901 ttctgatggg gaagagcttc aagcagaaga aatggcagga tctgtgcgtg ggggatgtgg
      961 tctgtctccg caaggacaac atcgtcccag ccgacatgct cttgctggcc agcacggagc
     1021 ccagcagcct gtgctatgtg gagacggtgg acattgacgg ggagaccaac ttgaagttca
     1081 gacaggccct gatggtcacc cacaaagaac tggccactat aaagaagatg gcgtcctttc
     1141 aaggcacagt gacgtgtgag gcgcctaaca gtcggatgca ccacttcgtg gggtgcctgg
     1201 aatggaatga caagaaatac tccctggaca ttggcaacct cctcctccga ggctgcagga
     1261 ttcgcaacac agacacctgc tatggactgg tcatttatgc tggttttgac acaaaaatta
     1321 tgaagaactg tggcaagatc catttgaaga gaaccaagct ggacctcctg atgaacaagc
     1381 tggtggttgt gatcttcatc tccgtggtgc ttgtctgcct ggtgttggcc ttcggcttcg
     1441 gtttctcagt caaagaattc aaagaccacc actactacct ctcgggggtg catgggagca
     1501 gcgtggccgc agagtccttc ttcgtcttct ggagcttcct catcctgctc agcgtcacca
     1561 tcccgatgtc catgttcatc ctgtccgagt tcatctacct ggggaacagc gtcttcatcg
     1621 actgggacgt gcagatgtac tacaagccgc aggacgtgcc tgccaaggcc cgcagcacca
     1681 gcctcaacga ccacctgggc caggtggaat acatcttctc ggacaagacg ggcacgctca
     1741 cgcagaacat cttgaccttc aacaagtgct gcatcagcgg ccgcgtctat gggccggatt
     1801 cagaggccac gacccgacct aaggagaacc cctacctctg gaacaagttc gccgacggga
     1861 agctgctctt ccacaatgcg gccctgctgc acctcgtgcg gaccaacggg gacgaggccg
     1921 tgcgggagtt ctggcgcctg ctggccatct gccacacggt gatggtgcgg gagagccccc
     1981 gtgagcgccc agaccagctg ttgtaccagg cggcctcccc cgacgagggg gcgctggtca
     2041 ccgcagcccg gaacttcggc tacgtgttcc tgtcccgcac ccaggacacc gtcacgatca
     2101 tggagctggg ggaggaacgg gtctaccagg tcctggccat aatggacttc aacagcacgc
     2161 gcaaacggat gtcggtgctg gttcgaaagc cagagggcgc catctgcctg tacaccaagg
     2221 gcgccgacac ggtcatcttc gaacgcttgc acaggagggg ggcaatggaa tttgccacag
     2281 aggaggcctt ggctgccttt gcccaggaga ccctgcggac actgtgcctg gcctacaggg
     2341 aggtggctga ggacatttac gaggactggc agcagcgcca ccaggaggcc agcctcctgc
     2401 tgcagaaccg ggcacaggcc ctgcaacagc tgctgggagc cacagccatc gaggacagac
     2461 tccaggacgg tgtccctgaa accatcaaat gtctcaagaa gagcaacatc aaaatatggg
     2521 tgctcaccgg ggacaagcag gaaacggctg tgaacatcgg cttcgcctgc gagctgctgt
     2581 cagagaatat gctcattctg gaggagaagg agattagccg catcctggag acctactggg
     2641 aaaacagtaa caaccttcta accagggagt ccctgtcgca ggtcaagctg gccttggtca
     2701 ttaacggaga cttcctggac aaactgctgg tgtccctgcg gaaggagccg cgcgccctgg
     2761 cgcagaacgt gaacatggac gaggcgtggc aggagctcgg ccagtccagg agggatttcc
     2821 tctacgccag gcgcctgtcc ctgctgtgcc ggaggttcgg gctcccgctg gctgcaccgc
     2881 cagcccagga ctccagagcc cgccgtagct ccgaggtgct gcaggagcgc gccttcgtgg
     2941 acctggcgtc caagtgccag gcggtcatct gctgccgcgt gacgcccaag cagaaggccc
     3001 tgatcgtggc cctggtcaag aagtaccacc aggtggtgac cctggccatc ggggacggtg
     3061 ccaacgacat caacatgatc aagaccgcgg acgtgggcgt ggggctggcg ggccaggagg
     3121 gcatgcaggc agttcagaac agcgacttcg tgctcggcca gttctgcttc ctgcagcgcc
     3181 tcctgctggt gcacggccgc tggtcctacg tgcggatctg caagttcctg cgctacttct
     3241 tctacaagag catggccagc atgatggtgc aggtctggtt tgcctgctac aacggcttca
     3301 ccggccagcc cctgtatgaa ggatggttcc tggctctttt caacctcctg tacagcaccc
     3361 tgccagttct ctacattggg ctctttgagc aggacgtgag cgcagagcag agcctggaga
     3421 agccggagct gtacgtggtg gggcagaagg acgagctctt caactactgg gtcttcgtcc
     3481 aagccatcgc ccatggtgtg accacctctc tggtcaactt cttcatgaca ctgtggatca
     3541 gccgcgacac ggcgggaccc gccagcttca gcgaccacca gtcctttgcg gtcgtggtgg
     3601 ccctgtcttg cctgctgtcc atcaccatgg aggtcattct tatcatcaag tactggaccg
     3661 ccctgtgcgt ggcgaccatc ctcctcagcc ttggtttcta cgccatcatg actaccacca
     3721 cccagagctt ctggctcttc agagtatccc ccacgacctt cccgtttctg tatgccgacc
     3781 tcagcgtgat gtcctctccc tccatcctgc tggtggtcct gctgagtgtg tccataaaca
     3841 ccttccctgt cctggccctc cgagtcatct tcccagccct caaggagcta cgtgccaagg
     3901 aggagaaggt ggaggagggc cccagcgagg agattttcac catggagccc ttgcctcatg
     3961 tacaccggga gtctcgtgcc cgccgttcca gctatgcttt ctcccaccgt gagggatatg
     4021 caaacctcat cactcagggc acaattctgc ggaggggacc aggggtcagc agtgacatag
     4081 catctgaatc cctagaccca tctgatgaag aggcagcttc gagcccaaaa gagtcacagt
     4141 gacacctcag gaagatgtcc ttcctgggga agaagaagca ccagccacag gggcaggtgt
     4201 cctcccagga agtacagctc ccccctacac ctagctcatc attttctatg gatagacaat
     4261 ccgctcttca tccagaaaac caacctgccc tccccaaata tgtgctcacc agcagcaaca
     4321 ggctatctga gtctttccaa gagcaattgc caagggcaca ggagaggtca ttgtcaccca
     4381 agcagaggcc accttctcct gagaagttgc tgttgaccaa ggagaggtca cattcttttc
     4441 aggagaaatc actgttgcac agagaaagcc agctgtcgtc atttgagagc cagccacagc
     4501 ctctggggag ccagtcattt ctttcaggcc agctgacgtt ggagagccag ccagactcct
     4561 cggaggagaa gtcagcattt ttgaagccct ccacaccgtt ccggaagagc tggcaaaagg
     4621 agcctcacac ccccaaggag gggacggtgc cacttccaga caagacccac aaatctcagg
     4681 tggagactct gccaccaagt ctggaagaat cgtccacgtc cacgagcgag cagcctatgg
     4741 aggtggagct gtggcccgcg gagaagcagt catcatcatc catggagtgg ctgctggtgc
     4801 ccggggagga gcagctatcc ttgcccccag aggagcagtc attgccctct gcggagggga
     4861 ccagggttca gcagtgacgt agcatctgaa tccctagacc catctgatga agaggcatct
     4921 tcgagcccaa aggagtcacg ctggcatatc aggaagatgt ccttcctggg aagaagaagc
     4981 tccagccagt tctgctgcaa gtcaaccagc atgcaggggg ccttcctcta aagacaagga
     5041 ctccacatgc ttttcttttt ctaataaacc agggtccatc tgaccccagc gctaa
//
