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2024-04-26 21:18:47, 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 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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