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2020-10-24 06:48:52, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001178002            5018 bp    mRNA    linear   PRI 17-JUN-2013
DEFINITION  Homo sapiens ATPase, aminophospholipid transporter, class I, type
            8B, member 3 (ATP8B3), transcript variant 2, mRNA.
ACCESSION   NM_001178002
VERSION     NM_001178002.2  GI:384871621
KEYWORDS    RefSeq.
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 5018)
  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   2  (bases 1 to 5018)
  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   3  (bases 1 to 5018)
  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   4  (bases 1 to 5018)
  AUTHORS   Halleck,M.S., Lawler JF,J.R., 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 AC012615.4, AY302538.1,
            BU542181.1, BC035162.2 and AK057452.1.
            On Apr 20, 2012 this sequence version replaced gi:295821169.
            
            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 (2) has an alternate 5' sequence,
            resulting in a downstream AUG start codon, as compared to variant
            1. The resulting isoform (2) has a shorter N-terminus, as compared
            to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY302538.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025085 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                AC012615.4         4648-4684           c
            38-232              AY302538.1         1-195
            233-736             BU542181.1         21-524
            737-3681            AY302538.1         700-3644
            3682-4710           BC035162.2         3768-4796
            4711-4888           AK057452.1         1662-1839
            4889-5018           BC035162.2         4975-5104
FEATURES             Location/Qualifiers
     source          1..5018
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..5018
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /note="ATPase, aminophospholipid transporter, class I,
                     type 8B, member 3"
                     /db_xref="GeneID:148229"
                     /db_xref="HGNC:13535"
                     /db_xref="MIM:605866"
     exon            1..170
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            171..348
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     CDS             260..4051
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /EC_number="3.6.3.1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     ATPase, class I, type 8B, member 3; probable
                     phospholipid-transporting ATPase IK; aminophospholipid
                     translocase ATP8B3; potential phospholipid-transporting
                     ATPase IK"
                     /codon_start=1
                     /product="probable phospholipid-transporting ATPase IK
                     isoform 2"
                     /protein_id="NP_001171473.1"
                     /db_xref="GI:295821170"
                     /db_xref="CCDS:CCDS54196.1"
                     /db_xref="GeneID:148229"
                     /db_xref="HGNC:13535"
                     /db_xref="MIM:605866"
                     /translation="
MGDSPGRGAPERRHKAQPGRARKYEWRPEGPTSMGSLGQREDLQDEDRNSAFTWKVQANNRAYNGQFKEKVILCWQRKKYKTNVIRTAKYNFYSFLPLNLYEQFHRVSNLFFLIIIILQSIPDISTLPWFSLSTPMVCLLFIRATRDLVDDMGRHKSDRAINNRPCQILMGKSFKQKKWQDLCVGDVVCLRKDNIVPADMLLLASTEPSSLCYVETVDIDGETNLKFRQALMVTHKELATIKKMASFQGTVTCEAPNSRMHHFVGCLEWNDKKYSLDIGNLLLRGCRIRNTDTCYGLVIYADGYMFVGFDTKIMKNCGKIHLKRTKLDLLMNKLVVVIFISVVLVCLVLAFGFGFSVKEFKDHHYYLSGVHGSSVAAESFFVFWSFLILLSVTIPMSMFILSEFIYLGNSVFIDWDVQMYYKPQDVPAKARSTSLNDHLGQVEYIFSDKTGTLTQNILTFNKCCISGRVYGPDSEATTRPKENPYLWNKFADGKLLFHNAALLHLVRTNGDEAVREFWRLLAICHTVMVRESPRERPDQLLYQAASPDEGALVTAARNFGYVFLSRTQDTVTIMELGEERVYQVLAIMDFNSTRKRMSVLVRKPEGAICLYTKGADTVIFERLHRRGAMEFATEEALAAFAQETLRTLCLAYREVAEDIYEDWQQRHQEASLLLQNRAQALQQVYNEMEQDLRLLGATAIEDRLQDGVPETIKCLKKSNIKIWVLTGDKQETAVNIGFACELLSENMLILEEKEISRILETYWENSNNLLTRESLSQVKLALVINGDFLDKLLVSLRKEPRALAQNVNMDEAWQELGQSRRDFLYARRLSLLCRRFGLPLAAPPAQDSRARRSSEVLQERAFVDLASKCQAVICCRVTPKQKALIVALVKKYHQVVTLAIGDGANDINMIKTADVGVGLAGQEGMQAVQNSDFVLGQFCFLQRLLLVHGRWSYVRICKFLRYFFYKSMASMMVQVWFACYNGFTGQPLYEGWFLALFNLLYSTLPVLYIGLFEQDVSAEQSLEKPELYVVGQKDELFNYWVFVQAIAHGVTTSLVNFFMTLWISRDTAGPASFSDHQSFAVVVALSCLLSITMEVILIIKYWTALCVATILLSLGFYAIMTTTTQSFWLFRVSPTTFPFLYADLSVMSSPSILLVVLLSVSINTFPVLALRVIFPALKELRAKEEKVEEGPSEEIFTMEPLPHVHRESRARRSSYAFSHREGYANLITQGTILRRGPGVSSDIASESLDPSDEEAASSPKESQ
"
     misc_feature    497..3778
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /note="phospholipid-translocating P-type ATPase, flippase;
                     Region: ATPase-Plipid; TIGR01652"
                     /db_xref="CDD:200120"
     misc_feature    701..>928
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /note="E1-E2 ATPase; Region: E1-E2_ATPase; pfam00122"
                     /db_xref="CDD:201018"
     misc_feature    <1895..2125
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /note="Putative hydrolase of sodium-potassium ATPase alpha
                     subunit; Region: Hydrolase_like2; pfam13246"
                     /db_xref="CDD:205426"
     misc_feature    <2894..3064
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /note="Haloacid Dehalogenase-like Hydrolases; Region:
                     HAD_like; cl11391"
                     /db_xref="CDD:212620"
     exon            349..410
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            411..502
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            503..616
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            617..715
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            716..777
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            778..850
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            851..921
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            922..1004
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            1005..1163
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            1164..1270
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            1271..1461
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            1462..1670
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            1671..1702
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            1703..1871
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            1872..2060
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            2061..2173
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            2174..2338
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            2339..2450
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            2451..2526
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            2527..2626
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            2627..2993
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            2994..3217
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     variation       3028
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:34098818"
     exon            3218..3301
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            3302..3541
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            3542..3680
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            3681..3808
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     exon            3809..5004
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /inference="alignment:Splign:1.39.8"
     variation       3817
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2385387"
     STS             4668..4827
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /standard_name="RH102133"
                     /db_xref="UniSTS:96467"
     variation       4889
                     /gene="ATP8B3"
                     /gene_synonym="ATPIK"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1054597"
ORIGIN      
gtccgccgccctggacgcccgcggcctgcccccccctgcctctcctgcgccggtgagcggcgggtgctcccactgctgtgcgtccccgggagcccgcgcaccctctctgggctccacccaggctgagagctggggtcgtggcggcgggggtggagagcgcgcccctagaggacctggggacacgggtgactcagacgtgactcaggaaggctcaggtcctgctggcatccgcggaggtgagacggtgatcagagctgggatgggagactccccaggcagaggggcacctgagaggaggcacaaggcccagcctggccgggctaggaagtatgaatggagaccagaaggccccaccagcatgggcagcctcggccagagagaagatctccaagatgaggacaggaactcagcattcacctggaaggtccaggccaacaaccgtgcctacaacgggcagttcaaggagaaggtgatcctgtgctggcaaaggaagaaatacaagaccaatgtcatccgcacggccaagtacaacttctactcgttcctgccgctgaacctgtacgagcagttccaccgcgtgtccaacctgttcttcctcatcatcatcatcctgcagagcattcccgacatctccacgctgccctggttctcgctcagtacccctatggtctgcctcctcttcatccgtgccacccgggacctggtggacgacatggggagacacaagagtgacagagccatcaacaacagaccctgccagattctgatggggaagagcttcaagcagaagaaatggcaggatctgtgcgtgggggatgtggtctgtctccgcaaggacaacatcgtcccagccgacatgctcttgctggccagcacggagcccagcagcctgtgctatgtggagacggtggacattgacggggagaccaacttgaagttcagacaggccctgatggtcacccacaaagaactggccactataaagaagatggcgtcctttcaaggcacagtgacgtgtgaggcgcctaacagtcggatgcaccacttcgtggggtgcctggaatggaatgacaagaaatactccctggacattggcaacctcctcctccgaggctgcaggattcgcaacacagacacctgctatggactggtcatttatgctgatggatacatgtttgtaggttttgacacaaaaattatgaagaactgtggcaagatccatttgaagagaaccaagctggacctcctgatgaacaagctggtggttgtgatcttcatctccgtggtgcttgtctgcctggtgttggccttcggcttcggtttctcagtcaaagaattcaaagaccaccactactacctctcgggggtgcatgggagcagcgtggccgcagagtccttcttcgtcttctggagcttcctcatcctgctcagcgtcaccatcccgatgtccatgttcatcctgtccgagttcatctacctggggaacagcgtcttcatcgactgggacgtgcagatgtactacaagccgcaggacgtgcctgccaaggcccgcagcaccagcctcaacgaccacctgggccaggtggaatacatcttctcggacaagacgggcacgctcacgcagaacatcttgaccttcaacaagtgctgcatcagcggccgcgtctatgggccggattcagaggccacgacccgacctaaggagaacccctacctctggaacaagttcgccgacgggaagctgctcttccacaatgcggccctgctgcacctcgtgcggaccaacggggacgaggccgtgcgggagttctggcgcctgctggccatctgccacacggtgatggtgcgggagagcccccgtgagcgcccagaccagctgttgtaccaggcggcctcccccgacgagggggcgctggtcaccgcagcccggaacttcggctacgtgttcctgtcccgcacccaggacaccgtcacgatcatggagctgggggaggaacgggtctaccaggtcctggccataatggacttcaacagcacgcgcaaacggatgtcggtgctggttcgaaagccagagggcgccatctgcctgtacaccaagggcgccgacacggtcatcttcgaacgcttgcacaggaggggggcaatggaatttgccacagaggaggccttggctgcctttgcccaggagaccctgcggacactgtgcctggcctacagggaggtggctgaggacatttacgaggactggcagcagcgccaccaggaggccagcctcctgctgcagaaccgggcacaggccctgcaacaggtgtacaacgagatggagcaggacctcaggctgctgggagccacagccatcgaggacagactccaggacggtgtccctgaaaccatcaaatgtctcaagaagagcaacatcaaaatatgggtgctcaccggggacaagcaggaaacggctgtgaacatcggcttcgcctgcgagctgctgtcagagaatatgctcattctggaggagaaggagattagccgcatcctggagacctactgggaaaacagtaacaaccttctaaccagggagtccctgtcgcaggtcaagctggccttggtcattaacggagacttcctggacaaactgctggtgtccctgcggaaggagccgcgcgccctggcgcagaacgtgaacatggacgaggcgtggcaggagctcggccagtccaggagggatttcctctacgccaggcgcctgtccctgctgtgccggaggttcgggctcccgctggctgcaccgccagcccaggactccagagcccgccgtagctccgaggtgctgcaggagcgcgccttcgtggacctggcgtccaagtgccaggcggtcatctgctgccgcgtgacgcccaagcagaaggccctgatcgtggccctggtcaagaagtaccaccaggtggtgaccctggccatcggggacggtgccaacgacatcaacatgatcaagaccgcggacgtgggcgtggggctggcgggccaggagggcatgcaggcagttcagaacagcgacttcgtgctcggccagttctgcttcctgcagcgcctcctgctggtgcacggccgctggtcctacgtgcggatctgcaagttcctgcgctacttcttctacaagagcatggccagcatgatggtgcaggtctggtttgcctgctacaacggcttcaccggccagcccctgtatgaaggatggttcctggctcttttcaacctcctgtacagcaccctgccagttctctacattgggctctttgagcaggacgtgagcgcagagcagagcctggagaagccggagctgtacgtggtggggcagaaggacgagctcttcaactactgggtcttcgtccaagccatcgcccatggtgtgaccacctctctggtcaacttcttcatgacactgtggatcagccgcgacacggcgggacccgccagcttcagcgaccaccagtcctttgcggtcgtggtggccctgtcttgcctgctgtccatcaccatggaggtcattcttatcatcaagtactggaccgccctgtgcgtggcgaccatcctcctcagccttggtttctacgccatcatgactaccaccacccagagcttctggctcttcagagtatcccccacgaccttcccgtttctgtatgccgacctcagcgtgatgtcctctccctccatcctgctggtggtcctgctgagtgtgtccataaacaccttccctgtcctggccctccgagtcatcttcccagccctcaaggagctacgtgccaaggaggagaaggtggaggagggccccagcgaggagattttcaccatggagcccttgcctcatgtacaccgggagtctcgtgcccgccgttccagctatgctttctcccaccgtgagggatatgcaaacctcatcactcagggcacaattctgcggaggggaccaggggtcagcagtgacatagcatctgaatccctagacccatctgatgaagaggcagcttcgagcccaaaagagtcacagtgacacctcaggaagatgtccttcctggggaagaagaagcaccagccacaggggcaggtgtcctcccaggaagtacagctcccccctacacctagctcatcattttctatggatagacaatccgctcttcatccagaaaaccaacctgccctccccaaatatgtgctcaccagcagcaacaggctatctgagtctttccaagagcaattgccaagggcacaggagaggtcattgtcacccaagcagaggccaccttctcctgagaagttgctgttgaccaaggagaggtcacattcttttcaggagaaatcactgttgcacagagaaagccagctgtcgtcatttgagagccagccacagcctctggggagccagtcatttctttcaggccagctgacgttggagagccagccagactcctcggaggagaagtcagcatttttgaagccctccacaccgttccggaagagctggcaaaaggagcctcacacccccaaggaggggacggtgccacttccagacaagacccacaaatctcaggtggagactctgccaccaagtctggaagaatcgtccacgtccacgagcgagcagcctatggaggtggagctgtggcccgcggagaagcagtcatcatcatccatggagtggctgctggtgcccggggaggagcagctatccttgcccccagaggagcagtcattgccctctgcggaggggaccagggttcagcagtgacgtagcatctgaatccctagacccatctgatgaagaggcatcttcgagcccaaaggagtcacgctggcatatcaggaagatgtccttcctgggaagaagaagctccagccagttctgctgcaagtcaaccagcatgcagggggccttcctctaaagacaaggactccacatgcttttctttttctaataaaccagggtccatctgaccccagcgctaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:148229 -> Molecular function: GO:0000287 [magnesium ion binding] evidence: IEA
            GeneID:148229 -> Molecular function: GO:0004012 [phospholipid-translocating ATPase activity] evidence: IEA
            GeneID:148229 -> Molecular function: GO:0005524 [ATP binding] evidence: IEA
            GeneID:148229 -> Molecular function: GO:0016887 [ATPase activity] evidence: RCA
            GeneID:148229 -> Molecular function: GO:0019829 [cation-transporting ATPase activity] evidence: IEA
            GeneID:148229 -> Biological process: GO:0006200 [ATP catabolic process] evidence: RCA
            GeneID:148229 -> Biological process: GO:0007339 [binding of sperm to zona pellucida] evidence: IEA
            GeneID:148229 -> Biological process: GO:0045332 [phospholipid translocation] evidence: IEA
            GeneID:148229 -> Cellular component: GO:0001669 [acrosomal vesicle] evidence: IEA
            GeneID:148229 -> Cellular component: GO:0016021 [integral to membrane] evidence: RCA
ANNOTATIONS from NCBI Entrez Gene (20130726):
            NP_001171473 -> EC 3.6.3.1

by @meso_cacase at DBCLS
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