LOCUS       NM_018425               4204 bp    mRNA    linear   PRI 12-JUN-2024
DEFINITION  Homo sapiens phosphatidylinositol 4-kinase type 2 alpha (PI4K2A),
            mRNA.
ACCESSION   NM_018425
VERSION     NM_018425.4
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 4204)
  AUTHORS   Huang,X., Cao,Y., Bao,P., Zhu,B. and Cheng,Z.
  TITLE     High expression of PI4K2A predicted poor prognosis of colon
            adenocarcinoma (COAD) and correlated with immunity
  JOURNAL   Cancer Med 12 (1), 837-851 (2023)
   PUBMED   35634680
  REMARK    GeneRIF: High expression of PI4K2A predicted poor prognosis of
            colon adenocarcinoma (COAD) and correlated with immunity.
REFERENCE   2  (bases 1 to 4204)
  AUTHORS   Dafsari,H.S., Pemberton,J.G., Ferrer,E.A., Yammine,T., Farra,C.,
            Mohammadi,M.H., Ghayoor Karimiani,E., Hashemi,N., Souaid,M.,
            Sabbagh,S., Najarzadeh Torbati,P., Khan,S., Roze,E.,
            Moreno-De-Luca,A., Bertoli-Avella,A.M., Houlden,H., Balla,T. and
            Maroofian,R.
  TITLE     PI4K2A deficiency causes innate error in intracellular trafficking
            with developmental and epileptic-dyskinetic encephalopathy
  JOURNAL   Ann Clin Transl Neurol 9 (9), 1345-1358 (2022)
   PUBMED   35880319
  REMARK    GeneRIF: PI4K2A deficiency causes innate error in intracellular
            trafficking with developmental and epileptic-dyskinetic
            encephalopathy.
REFERENCE   3  (bases 1 to 4204)
  AUTHORS   Pataer,A., Ozpolat,B., Shao,R., Cashman,N.R., Plotkin,S.S.,
            Samuel,C.E., Lin,S.H., Kabil,N.N., Wang,J., Majidi,M., Fang,B.,
            Roth,J.A., Vaporciyan,A.A., Wistuba,I.I., Hung,M.C. and
            Swisher,S.G.
  TITLE     Therapeutic targeting of the PI4K2A/PKR lysosome network is
            critical for misfolded protein clearance and survival in cancer
            cells
  JOURNAL   Oncogene 39 (4), 801-813 (2020)
   PUBMED   31554935
  REMARK    GeneRIF: Therapeutic targeting of the PI4K2A/PKR lysosome network
            is critical for misfolded protein clearance and survival in cancer
            cells.
REFERENCE   4  (bases 1 to 4204)
  AUTHORS   Isaji,T., Im,S., Kameyama,A., Wang,Y., Fukuda,T. and Gu,J.
  TITLE     A complex between phosphatidylinositol 4-kinase IIalpha and
            integrin alpha3beta1 is required for N-glycan sialylation in cancer
            cells
  JOURNAL   J Biol Chem 294 (12), 4425-4436 (2019)
   PUBMED   30659093
  REMARK    GeneRIF: both integrin alpha3beta1 and PI4KIIalpha co-localized to
            the trans-Golgi network, where they physically interacted with each
            other, and PI4KIIalpha specifically associated with integrin alpha3
            but not alpha5
REFERENCE   5  (bases 1 to 4204)
  AUTHORS   Chen,Y., Sun,H.Q., Eichorst,J.P., Albanesi,J.P., Yin,H. and
            Mueller,J.D.
  TITLE     Comobility of GABARAP and Phosphatidylinositol 4-Kinase 2A on
            Cytoplasmic Vesicles
  JOURNAL   Biochemistry 57 (26), 3556-3559 (2018)
   PUBMED   29792687
  REMARK    GeneRIF: These results indicate that GABARAP and PI4K2A interact
            tightly. Although lipidation of GABARAP is essential for its role
            in autophagy, here we show that its lipidation is not required for
            the interaction of GABARAP and PI4K2A.
REFERENCE   6  (bases 1 to 4204)
  AUTHORS   Balla,A., Tuymetova,G., Barshishat,M., Geiszt,M. and Balla,T.
  TITLE     Characterization of type II phosphatidylinositol 4-kinase isoforms
            reveals association of the enzymes with endosomal vesicular
            compartments
  JOURNAL   J Biol Chem 277 (22), 20041-20050 (2002)
   PUBMED   11923287
REFERENCE   7  (bases 1 to 4204)
  AUTHORS   Minogue,S., Anderson,J.S., Waugh,M.G., dos Santos,M., Corless,S.,
            Cramer,R. and Hsuan,J.J.
  TITLE     Cloning of a human type II phosphatidylinositol 4-kinase reveals a
            novel lipid kinase family
  JOURNAL   J Biol Chem 276 (20), 16635-16640 (2001)
   PUBMED   11279162
REFERENCE   8  (bases 1 to 4204)
  AUTHORS   Barylko,B., Gerber,S.H., Binns,D.D., Grichine,N., Khvotchev,M.,
            Sudhof,T.C. and Albanesi,J.P.
  TITLE     A novel family of phosphatidylinositol 4-kinases conserved from
            yeast to humans
  JOURNAL   J Biol Chem 276 (11), 7705-7708 (2001)
   PUBMED   11244087
REFERENCE   9  (bases 1 to 4204)
  AUTHORS   Claas,C., Stipp,C.S. and Hemler,M.E.
  TITLE     Evaluation of prototype transmembrane 4 superfamily protein
            complexes and their relation to lipid rafts
  JOURNAL   J Biol Chem 276 (11), 7974-7984 (2001)
   PUBMED   11113129
REFERENCE   10 (bases 1 to 4204)
  AUTHORS   Berditchevski,F., Tolias,K.F., Wong,K., Carpenter,C.L. and
            Hemler,M.E.
  TITLE     A novel link between integrins, transmembrane-4 superfamily
            proteins (CD63 and CD81), and phosphatidylinositol 4-kinase
  JOURNAL   J Biol Chem 272 (5), 2595-2598 (1997)
   PUBMED   9006891
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355315.18.
            
            On Jul 6, 2021 this sequence version replaced NM_018425.3.
            
            Summary: Phosphatidylinositolpolyphosphates (PtdInsPs) are
            centrally involved in many biologic processes, ranging from cell
            growth and organization of the actin cytoskeleton to endo- and
            exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an
            essential step in the biosynthesis of PtdInsPs (Barylko et al.,
            2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ303098.1, SRR14038195.2186239.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370631.4/ ENSP00000359665.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-507               AL355315.18        69446-69952
            508-708             AL355315.18        79716-79916
            709-840             AL355315.18        85060-85191
            841-994             AL355315.18        85596-85749
            995-1056            AL355315.18        91682-91743
            1057-1156           AL355315.18        93660-93759
            1157-1290           AL355315.18        95213-95346
            1291-1350           AL355315.18        95836-95895
            1351-4204           AL355315.18        102356-105209
FEATURES             Location/Qualifiers
     source          1..4204
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.2"
     gene            1..4204
                     /gene="PI4K2A"
                     /gene_synonym="NEDMSB; PI4KII; PIK42A"
                     /note="phosphatidylinositol 4-kinase type 2 alpha"
                     /db_xref="GeneID:55361"
                     /db_xref="HGNC:HGNC:30031"
                     /db_xref="MIM:609763"
     exon            1..507
                     /gene="PI4K2A"
                     /gene_synonym="NEDMSB; PI4KII; PIK42A"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..1512
                     /gene="PI4K2A"
                     /gene_synonym="NEDMSB; PI4KII; PIK42A"
                     /EC_number="2.7.1.67"
                     /note="phosphatidylinositol 4-kinase type II (PI4KII);
                     phosphatidylinositol 4-kinase type II-alpha"
                     /codon_start=1
                     /product="phosphatidylinositol 4-kinase type 2-alpha"
                     /protein_id="NP_060895.1"
                     /db_xref="CCDS:CCDS7469.1"
                     /db_xref="GeneID:55361"
                     /db_xref="HGNC:HGNC:30031"
                     /db_xref="MIM:609763"
                     /translation="MDETSPLVSPERAQPPDYTFPSGSGAHFPQVPGGAVRVAAAAGS
                     GPSPPGSPGHDRERQPLLDRARGAAAQGQTQTVAAQAQALAAQAAAAAHAAQAHRERN
                     EFPEDPEFEAVVRQAELAIERCIFPERIYQGSSGSYFVKDPQGRIIAVFKPKNEEPYG
                     HLNPKWTKWLQKLCCPCCFGRDCLVLNQGYLSEAGASLVDQKLELNIVPRTKVVYLAS
                     ETFNYSAIDRVKSRGKRLALEKVPKVGQRFNRIGLPPKVGSFQLFVEGYKDADYWLRR
                     FEAEPLPENTNRQLLLQFERLVVLDYIIRNTDRGNDNWLIKYDCPMDSSSSRDTDWVV
                     VKEPVIKVAAIDNGLAFPLKHPDSWRAYPFYWAWLPQAKVPFSQEIKDLILPKISDPN
                     FVKDLEEDLYELFKKDPGFDRGQFHKQIAVMRGQILNLTQALKDNKSPLHLVQMPPVI
                     VETARSHQRSSSESYTQSFQSRKPFFSWW"
     exon            508..708
                     /gene="PI4K2A"
                     /gene_synonym="NEDMSB; PI4KII; PIK42A"
                     /inference="alignment:Splign:2.1.0"
     exon            709..840
                     /gene="PI4K2A"
                     /gene_synonym="NEDMSB; PI4KII; PIK42A"
                     /inference="alignment:Splign:2.1.0"
     exon            841..994
                     /gene="PI4K2A"
                     /gene_synonym="NEDMSB; PI4KII; PIK42A"
                     /inference="alignment:Splign:2.1.0"
     exon            995..1056
                     /gene="PI4K2A"
                     /gene_synonym="NEDMSB; PI4KII; PIK42A"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..1156
                     /gene="PI4K2A"
                     /gene_synonym="NEDMSB; PI4KII; PIK42A"
                     /inference="alignment:Splign:2.1.0"
     exon            1157..1290
                     /gene="PI4K2A"
                     /gene_synonym="NEDMSB; PI4KII; PIK42A"
                     /inference="alignment:Splign:2.1.0"
     exon            1291..1350
                     /gene="PI4K2A"
                     /gene_synonym="NEDMSB; PI4KII; PIK42A"
                     /inference="alignment:Splign:2.1.0"
     exon            1351..4204
                     /gene="PI4K2A"
                     /gene_synonym="NEDMSB; PI4KII; PIK42A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3809..3814
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PI4K2A"
                     /gene_synonym="NEDMSB; PI4KII; PIK42A"
                     /note="hexamer: AATACA"
     polyA_site      3821
                     /gene="PI4K2A"
                     /gene_synonym="NEDMSB; PI4KII; PIK42A"
                     /note="major polyA site"
     regulatory      3945..3950
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PI4K2A"
                     /gene_synonym="NEDMSB; PI4KII; PIK42A"
                     /note="hexamer: AATAAA"
     polyA_site      3968
                     /gene="PI4K2A"
                     /gene_synonym="NEDMSB; PI4KII; PIK42A"
     regulatory      4182..4187
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PI4K2A"
                     /gene_synonym="NEDMSB; PI4KII; PIK42A"
                     /note="hexamer: AATAAA"
     polyA_site      4204
                     /gene="PI4K2A"
                     /gene_synonym="NEDMSB; PI4KII; PIK42A"
ORIGIN      
        1 gtcacggatt ggtcgcggcc gcgagcgcag tggtgtggag cgcgccgggt cccggagccg
       61 gctgtctgag ggatggacga gacgagccca ctagtgtccc ccgagcgggc ccaacccccg
      121 gactacacct tcccgtcggg ctcgggcgct cactttccgc aggtgcccgg gggcgcggtc
      181 cgagtggcgg cggcggccgg ctcgggcccc tctccgccgg gctcgccggg ccacgaccgc
      241 gagcggcagc cactgttgga tcgggcccgg ggcgcggcgg cccagggcca gacccaaacc
      301 gtggcggcgc aggcccaggc tctggccgct caggccgcgg cggcagccca cgccgctcag
      361 gcccaccgcg agcggaacga gttcccggag gatcctgagt tcgaggcggt ggtgcggcag
      421 gccgagctgg ccatcgagcg ctgcatcttt cccgagcgca tctaccaggg ctccagcgga
      481 agctacttcg tcaaggaccc tcaggggagg atcattgctg tcttcaaacc caagaatgaa
      541 gagccctatg ggcatcttaa tcctaagtgg accaagtggc tgcagaagct gtgctgtcct
      601 tgctgctttg gccgtgactg ccttgtcctt aaccagggct atctctcaga agcaggggcc
      661 agcctggtgg accaaaaact ggaactcaac attgttcccc gtacaaaggt agtatacctg
      721 gccagtgaga ccttcaacta tagtgccatt gaccgagtga agtccagggg caagcggctt
      781 gcactagaga aagtgccaaa agttggacag cggtttaacc gcatcgggct accaccaaag
      841 gttggttcat tccagctctt tgttgaaggc tacaaagatg cagactattg gctgcggcgt
      901 tttgaagcag aacctcttcc tgagaacact aaccggcaac tactgctcca gtttgagcgg
      961 ttggtggtgc tggattacat catccgcaac actgatcgag gcaatgacaa ctggctgatt
     1021 aaatatgact gtccaatgga tagttctagc tctcgggaca cagactgggt ggtggtgaag
     1081 gagcctgtta tcaaggtggc tgccatagac aatgggctgg ccttcccact gaagcatcct
     1141 gactcctgga gggcatatcc tttttactgg gcctggttgc cccaggcgaa agtcccattt
     1201 tctcaggaga tcaaagatct gatccttcca aagatatcgg accctaactt cgtcaaggac
     1261 ttggaagagg acctatatga actcttcaag aaagatcctg gtttcgacag gggccagttc
     1321 cataagcaga ttgctgtcat gcggggccag atcttaaatc tgacccaggc cttgaaagac
     1381 aacaagagtc ccctgcacct cgtccagatg ccacctgtga ttgtcgagac ggcccgttcc
     1441 caccagcggt cttctagcga gtcctacaca cagagctttc agagccggaa gcccttcttt
     1501 tcatggtggt agctccagag gcaggcagag gaaatattgt cagagactgg tgggaggaag
     1561 cctggggagt ggggtgcagg aaaagccaga gaagccggtg gagagcagca cctttaagag
     1621 ccctctctct ctgcttgcca ccctgctcag agctttccac ccacagggag aagcacaatc
     1681 aggaacagtg agtgctcctc gcccttctga tgtgggggag gctggagctc catgcacgta
     1741 gtccagatgc ctgggaagga acatctccct tccagcatct gctggtagca ggctgggaca
     1801 gtcccttcct tccctgaaac cctgctctat tgcaattccc tattatattc tgcatcagaa
     1861 aaacaaacaa aacaaaaaca actttaaatg cttgtagcag aaccccgggt catctcatgt
     1921 cagaaacctt taatccaggc ctaaatttgc atagacctga cattcagctg ccttgcagtt
     1981 gcttcctccc atgagccaag gtggtgtcag agggcaactg gatgactcgc agtaccacag
     2041 cactgggaca gacagaagcc acacctttct tttgggtttt tgccaagcct cctccatctc
     2101 ccatcagtgc tgtgggctgg ctgcaagcct cgaaacagtt ctcctggaag ggaggttttt
     2161 gctttacccc cgccagcact tccgcacaca atcatagaga acctctctgc tctctgctgg
     2221 cctacagctt gtctgtttct caagcagagg caggaagagc tagtcttagc atttatattt
     2281 taataggaag ttgactccca gcatgtaaaa gtgatccacg cagccggagt gtatgccggg
     2341 agctaagtgg tctatgggtg aacatatccc accttgcttc ctgagtcctt ggtcccaatc
     2401 ttctcatttg ttcctctcgt tttaaatttt ttccccccaa ctcttttgat gtaagagttc
     2461 agtttgtctt cgggagtggg tctctgcaag ggctctggga tgagtcttgg cttccaagag
     2521 gacaggctat taggttcttg gacttttttc tgtgctaccg ctgctgcttg gtggaagtaa
     2581 caggacgtgg attctgcctc ataagtggca gtttcccttt tctctctgac ttgtcctagg
     2641 ccgatttctc tatggcttcc ctgagaaagg tgaggcccaa aggagagagg ccttcaaact
     2701 gtcccaggtc ctgcgcagct cagtgcgtat cttcttgctt ccatgtgtct tttcccctgc
     2761 tgcctcactc cccaccccca cttgccaggt gtttgagcca tttctacacc aaagcaaagt
     2821 acggcctcag gagggagtaa aaagggtgcc atctgtgtct ggaggggcag ctgtgttcat
     2881 gccctgtgct actggacatt tcacaattct ggcaccttgc gattggtcag tcaacctcag
     2941 aaagtaacta tcttgaaggt ttgaaaaaca accaaagaaa gggagtgagg actatggctg
     3001 catgtcctct gcttgcccgg ctgcagagca gagatgtgca gccctctggt cagctggtcc
     3061 aggctggtcc ccgccggtcc ccttccagtc cagccaccaa gagtccactt gtcccgggct
     3121 tccacctggc tgacaggaag aatttctgag agctggatgt gcatgccctg tggacgaagg
     3181 tacagctcgc ctgcctgccc caatcccagc cccgacaatc acatgcagct gactcggaca
     3241 ctggccttgg gaacaatgtt cgagagaaca cttgcccctt gactgtagga gccagaaggg
     3301 gacccaggtg tgcatagctc tctgtagaca tttttaccca aacctgttgg taaagtgccc
     3361 atctggtgct caagagagcc tgggggtcta acagggagcc cggctgcctc acctggccac
     3421 agcctccaca ccagatctcc acattgtctt gatccagacc agctctgtga tcagaaggaa
     3481 attgggtcca gtgtaggaga gagctggtcc tgggcctggc aggcaagagt gtgggcatcc
     3541 tttcctggcc tttctccact ctccctcaag cctgtgctca ggttgccttg aatgtggact
     3601 ctggaagagc caggggccca gaatgccggg ggaggcttct gagtggcact catggaacac
     3661 cgtccctctg ccagccatag gccctgcctc cagtgtcagg gaatggaggc tgggctgcga
     3721 gagtgttgct gccccctgtg tcattcttct aatccaatgt agaaattgta cgtaatgtat
     3781 ttaaatcaac gcaaatgtat gaataacaaa tacagttctg accttttttg tccagtttct
     3841 ttgggggaag gaagacaaag aaggtaggaa cggaattttg agggcaaaga aacctgtgtt
     3901 tccatggaat tgctgagacg tggctcctgg ggctatttct ccctaataaa ggatgatcca
     3961 ggtcctcatt tccaaagtcc caatgctctg aaaaccaaaa gtattttcat aacccatttg
     4021 aaaccaaacc tgacctgaac ttacactgat aggaagctat gggtaattat gatgtgttcc
     4081 ttttagtgtg attctttgtt gcagaaatgt caatatattt tatgacatgg ttccctacta
     4141 gggattatac agtatttgct gactacttcc taagagccaa aaataaaaaa tctgaattcc
     4201 aaaa
//
