LOCUS       NM_003558               3115 bp    mRNA    linear   PRI 23-APR-2024
DEFINITION  Homo sapiens phosphatidylinositol-4-phosphate 5-kinase type 1 beta
            (PIP5K1B), transcript variant 2, mRNA.
ACCESSION   NM_003558
VERSION     NM_003558.4
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 3115)
  AUTHORS   Zhang,H., Liu,R., Jing,Z., Li,C., Fan,W., Li,H., Li,H., Ren,J.,
            Cui,S., Zhao,W., Yu,L., Bai,Y., Liu,S., Fang,C., Yang,W., Wei,Y.,
            Li,L. and Peng,S.
  TITLE     LRRC8A as a central mediator promotes colon cancer metastasis by
            regulating PIP5K1B/PIP2 pathway
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1870 (4), 167066 (2024)
   PUBMED   38350542
  REMARK    GeneRIF: LRRC8A as a central mediator promotes colon cancer
            metastasis by regulating PIP5K1B/PIP2 pathway.
REFERENCE   2  (bases 1 to 3115)
  AUTHORS   Lacalle,R.A., de Karam,J.C., Martinez-Munoz,L., Artetxe,I.,
            Peregil,R.M., Sot,J., Rojas,A.M., Goni,F.M., Mellado,M. and
            Manes,S.
  TITLE     Type I phosphatidylinositol 4-phosphate 5-kinase homo- and
            heterodimerization determines its membrane localization and
            activity
  JOURNAL   FASEB J 29 (6), 2371-2385 (2015)
   PUBMED   25713054
  REMARK    GeneRIF: Data indicate that type I phosphatidylinositol 4-phosphate
            5-kinase PIP5KIbeta mutants whose dimerization was impaired showed
            a severe decrease in PI(4,5)P2 production and plasma membrane
            delocalization.
REFERENCE   3  (bases 1 to 3115)
  AUTHORS   Bayot,A., Reichman,S., Lebon,S., Csaba,Z., Aubry,L., Sterkers,G.,
            Husson,I., Rak,M. and Rustin,P.
  TITLE     Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient
            cells results in cytoskeleton anomalies
  JOURNAL   Hum Mol Genet 22 (14), 2894-2904 (2013)
   PUBMED   23552101
  REMARK    GeneRIF: Knockdown of PIP5K1B in fibroblasts reproduced abnormal
            actin cytoskeleton remodeling evidenced in Friedreich's ataxia
            patient cells.
REFERENCE   4  (bases 1 to 3115)
  AUTHORS   Zeng,Z., Shaffer,J.R., Wang,X., Feingold,E., Weeks,D.E., Lee,M.,
            Cuenco,K.T., Wendell,S.K., Weyant,R.J., Crout,R., McNeil,D.W. and
            Marazita,M.L.
  TITLE     Genome-wide association studies of pit-and-fissure- and
            smooth-surface caries in permanent dentition
  JOURNAL   J Dent Res 92 (5), 432-437 (2013)
   PUBMED   23470693
REFERENCE   5  (bases 1 to 3115)
  AUTHORS   Velez Edwards,D.R., Naj,A.C., Monda,K., North,K.E., Neuhouser,M.,
            Magvanjav,O., Kusimo,I., Vitolins,M.Z., Manson,J.E.,
            O'Sullivan,M.J., Rampersaud,E. and Edwards,T.L.
  TITLE     Gene-environment interactions and obesity traits among
            postmenopausal African-American and Hispanic women in the Women's
            Health Initiative SHARe Study
  JOURNAL   Hum Genet 132 (3), 323-336 (2013)
   PUBMED   23192594
REFERENCE   6  (bases 1 to 3115)
  AUTHORS   Niiro,H. and Clark,E.A.
  TITLE     Branches of the B cell antigen receptor pathway are directed by
            protein conduits Bam32 and Carma1
  JOURNAL   Immunity 19 (5), 637-640 (2003)
   PUBMED   14614850
  REMARK    Review article
REFERENCE   7  (bases 1 to 3115)
  AUTHORS   Pook,M.A., Carvajal,J.J., Doudney,K., Hillermann,R. and
            Chamberlain,S.
  TITLE     Exon-intron structure of a 2.7-kb transcript of the STM7 gene with
            phosphatidylinositol-4-phosphate 5-kinase activity
  JOURNAL   Genomics 42 (1), 170-172 (1997)
   PUBMED   9177790
REFERENCE   8  (bases 1 to 3115)
  AUTHORS   Loijens,J.C. and Anderson,R.A.
  TITLE     Type I phosphatidylinositol-4-phosphate 5-kinases are distinct
            members of this novel lipid kinase family
  JOURNAL   J Biol Chem 271 (51), 32937-32943 (1996)
   PUBMED   8955136
REFERENCE   9  (bases 1 to 3115)
  AUTHORS   Carvajal,J.J., Pook,M.A., dos Santos,M., Doudney,K., Hillermann,R.,
            Minogue,S., Williamson,R., Hsuan,J.J. and Chamberlain,S.
  TITLE     The Friedreich's ataxia gene encodes a novel
            phosphatidylinositol-4- phosphate 5-kinase
  JOURNAL   Nat Genet 14 (2), 157-162 (1996)
   PUBMED   8841185
REFERENCE   10 (bases 1 to 3115)
  AUTHORS   Carvajal,J.J., Pook,M.A., Doudney,K., Hillermann,R., Wilkes,D.,
            al-Mahdawi,S., Williamson,R. and Chamberlain,S.
  TITLE     Friedreich's ataxia: a defect in signal transduction?
  JOURNAL   Hum Mol Genet 4 (8), 1411-1419 (1995)
   PUBMED   7581382
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL354794.16, CB988216.1, AK292734.1, U78579.1 and CK299479.1.
            
            On Nov 22, 2018 this sequence version replaced NM_003558.3.
            
            Transcript Variant: This variant (2) represents the longer
            transcript and encodes the longer isoform (2). Variants 2, 4, 5 and
            6 encode the same isoform.
            
            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 :: SRR3476690.828094.1,
                                           SRR1660809.120125.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265382.8/ ENSP00000265382.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-174               AL354794.16        21416-21589
            175-457             CB988216.1         252-534
            458-2462            AK292734.1         1-2005
            2463-2567           U78579.1           1080-1184
            2568-3115           CK299479.1         17-564              c
FEATURES             Location/Qualifiers
     source          1..3115
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.11"
     gene            1..3115
                     /gene="PIP5K1B"
                     /gene_synonym="MSS4; STM7"
                     /note="phosphatidylinositol-4-phosphate 5-kinase type 1
                     beta"
                     /db_xref="GeneID:8395"
                     /db_xref="HGNC:HGNC:8995"
                     /db_xref="MIM:602745"
     exon            1..523
                     /gene="PIP5K1B"
                     /gene_synonym="MSS4; STM7"
                     /inference="alignment:Splign:2.1.0"
     exon            524..680
                     /gene="PIP5K1B"
                     /gene_synonym="MSS4; STM7"
                     /inference="alignment:Splign:2.1.0"
     exon            681..765
                     /gene="PIP5K1B"
                     /gene_synonym="MSS4; STM7"
                     /inference="alignment:Splign:2.1.0"
     CDS             766..2388
                     /gene="PIP5K1B"
                     /gene_synonym="MSS4; STM7"
                     /EC_number="2.7.1.68"
                     /note="isoform 2 is encoded by transcript variant 2;
                     protein STM-7; ptdIns(4)P-5-kinase 1 beta; PIP5KIbeta;
                     PIP5K1-beta; phosphatidylinositol 4-phosphate 5-kinase
                     type I beta; type I phosphatidylinositol 4-phosphate
                     5-kinase beta"
                     /codon_start=1
                     /product="phosphatidylinositol 4-phosphate 5-kinase type-1
                     beta isoform 2"
                     /protein_id="NP_003549.1"
                     /db_xref="CCDS:CCDS6624.1"
                     /db_xref="GeneID:8395"
                     /db_xref="HGNC:HGNC:8995"
                     /db_xref="MIM:602745"
                     /translation="MSSAAENGEAAPGKQNEEKTYKKTASSAIKGAIQLGIGYTVGNL
                     TSKPERDVLMQDFYVVESVFLPSEGSNLTPAHHYPDFRFKTYAPLAFRYFRELFGIKP
                     DDYLYSICSEPLIELSNPGASGSLFFVTSDDEFIIKTVQHKEAEFLQKLLPGYYMNLN
                     QNPRTLLPKFYGLYCMQSGGINIRIVVMNNVLPRSMRMHFTYDLKGSTYKRRASRKER
                     EKSNPTFKDLDFLQDMHEGLYFDTETYNALMKTLQRDCRVLESFKIMDYSLLLGIHFL
                     DHSLKEKEEETPQNVPDAKRTGMQKVLYSTAMESIQGPGKSGDGIITENPDTMGGIPA
                     KSHRGEKLLLFMGIIDILQSYRLMKKLEHSWKALVYDGDTVSVHRPSFYADRFLKFMN
                     SRVFKKIQALKASPSKKRCNSIAALKATSQEIVSSISQEWKDEKRDLLTEGQSFSSLD
                     EEALGSRHRPDLVPSTPSLFEAASLATTISSSSLYVNEHYPHDRPTLYSNSKGLPSSS
                     TFTLEEGTIYLTAEPNTLEVQDDNASVLDVYL"
     exon            766..834
                     /gene="PIP5K1B"
                     /gene_synonym="MSS4; STM7"
                     /inference="alignment:Splign:2.1.0"
     exon            835..965
                     /gene="PIP5K1B"
                     /gene_synonym="MSS4; STM7"
                     /inference="alignment:Splign:2.1.0"
     exon            966..1083
                     /gene="PIP5K1B"
                     /gene_synonym="MSS4; STM7"
                     /inference="alignment:Splign:2.1.0"
     exon            1084..1236
                     /gene="PIP5K1B"
                     /gene_synonym="MSS4; STM7"
                     /inference="alignment:Splign:2.1.0"
     exon            1237..1536
                     /gene="PIP5K1B"
                     /gene_synonym="MSS4; STM7"
                     /inference="alignment:Splign:2.1.0"
     exon            1537..1748
                     /gene="PIP5K1B"
                     /gene_synonym="MSS4; STM7"
                     /inference="alignment:Splign:2.1.0"
     exon            1749..1832
                     /gene="PIP5K1B"
                     /gene_synonym="MSS4; STM7"
                     /inference="alignment:Splign:2.1.0"
     exon            1833..1881
                     /gene="PIP5K1B"
                     /gene_synonym="MSS4; STM7"
                     /inference="alignment:Splign:2.1.0"
     exon            1882..1966
                     /gene="PIP5K1B"
                     /gene_synonym="MSS4; STM7"
                     /inference="alignment:Splign:2.1.0"
     exon            1967..2122
                     /gene="PIP5K1B"
                     /gene_synonym="MSS4; STM7"
                     /inference="alignment:Splign:2.1.0"
     exon            2123..2267
                     /gene="PIP5K1B"
                     /gene_synonym="MSS4; STM7"
                     /inference="alignment:Splign:2.1.0"
     exon            2268..2385
                     /gene="PIP5K1B"
                     /gene_synonym="MSS4; STM7"
                     /inference="alignment:Splign:2.1.0"
     exon            2386..3115
                     /gene="PIP5K1B"
                     /gene_synonym="MSS4; STM7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3095..3100
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIP5K1B"
                     /gene_synonym="MSS4; STM7"
                     /note="hexamer: AATAAA"
     polyA_site      3115
                     /gene="PIP5K1B"
                     /gene_synonym="MSS4; STM7"
                     /note="major polyA site"
ORIGIN      
        1 ctctctgcgc ctcgctccga ctccggcgcg caccaagcgg gaacccgcgc ccgagcccgg
       61 cgggcgccgc tgctgctcct ctcggtcccc ggttcccggt ccccgaacgc gccgcggcga
      121 ggctgcgccc ggcagtggag ccgctcggag ctgctgggct ttggcggccg ctcgctgctc
      181 cgtctggccg gaggaccggc ggggaaggaa ggggaaagcg gggacacaca cactcgccgc
      241 ggcgcgcgcg cactgcacac tcgtagccgc gcgcccccgc caaggcgcgt ccggagcgag
      301 tttggccccg cggctccagc cccggcacct gcccgccctc agcgttgccc ccggccccgg
      361 ccccgcccgc cgccccctcc gccctcccgc ccctcccgcc cctcccgccc ctcgcctgca
      421 ctgctctccc ttcgctgtgg ggaagcgaca acgtcccgat aacttgcaga ctgtggcgca
      481 actggtcttg gtagcggagg cacccgaatg ctgcccgggt gagatgagga agccaaggcc
      541 cagcagagct gagatgtgac tgcagagccg tccaacccca gtcctgtgac ctttctctgg
      601 tgcctgatac ctctcagcat ttgagggcct tttctcttcc tgcttcatct ctaaaggtcc
      661 ttctaggaga gaggtgaaag aaacctggca aagaaaacgg tctcgacaat gagtaggcca
      721 cccatcacta ctaactacag atgacttgcc atttcattta caaagatgtc ttctgctgct
      781 gaaaatggag aggcagcacc tggaaaacaa aatgaagaaa aaacctataa aaagactgca
      841 tcatctgcta ttaaaggtgc tattcagctg ggaataggat acacagtggg taatctcact
      901 tccaagccag aacgagatgt tcttatgcaa gacttttatg tggtggaaag tgtgttccta
      961 cccagcgaag ggagcaatct gaccccagca catcactacc cagactttag atttaagaca
     1021 tacgctccat tagcattccg atatttcaga gaactttttg gtatcaagcc tgatgattac
     1081 ttgtattcca tctgcagtga acctctaata gaactgtcta accctggagc cagtggatcc
     1141 ttgttttttg tgaccagtga tgatgaattt atcatcaaaa cagttcagca caaagaagct
     1201 gagtttcttc agaagctact gccaggctat tacatgaatt taaaccagaa tccaaggact
     1261 cttttgccaa aattttacgg actgtattgt atgcaatcag gaggcattaa tatcaggatt
     1321 gtggtgatga acaacgtttt gccacgctcc atgagaatgc actttacata tgacttgaaa
     1381 ggctcaacgt ataagcgaag agcatcccgt aaagagagag agaaatccaa ccccacattt
     1441 aaggacttag atttcctgca agacatgcac gaagggttgt attttgatac ggaaacatac
     1501 aacgcgctta tgaaaacact tcagagagac tgccgggtgc tagaaagctt caagatcatg
     1561 gattatagcc ttctgttggg aattcatttc ctggaccatt ccctcaaaga gaaagaggag
     1621 gagaccccac aaaatgtgcc tgatgctaag cggactggga tgcagaaggt tctctactca
     1681 acagccatgg aatctatcca gggtccaggg aaatctggag atgggataat cacagagaac
     1741 ccagacacaa tgggaggcat tccagctaaa agccataggg gagaaaaact acttttattt
     1801 atgggcatta ttgacattct gcaatcatat aggttaatga agaagttaga acattcctgg
     1861 aaagctcttg tttatgatgg ggacactgtt tctgttcata gaccaagctt ttatgcagac
     1921 agatttctta agttcatgaa ttccagagtt ttcaagaaaa ttcaagcttt gaaggcttca
     1981 ccgtctaaga aacggtgcaa ttcaatcgcc gccctaaagg ccacttcaca ggagattgtg
     2041 tcctcaatta gccaggaatg gaaggatgag aagcgggatt tgctgactga aggacaaagt
     2101 tttagcagcc ttgatgaaga agccctggga tcccgacaca ggccagacct ggtccctagc
     2161 actccatcac tgtttgaagc tgcttccttg gcaaccacaa tttcatcttc ttccttatac
     2221 gtcaatgagc actatccaca cgacaggcct acactctatt caaacagcaa agggttacct
     2281 tccagttcaa catttacctt ggaagagggg accatctact tgaccgctga gcccaacact
     2341 ctggaagtgc aggatgacaa tgcttctgtg cttgacgtct atttataagt gaaaatggtg
     2401 atcacctaag cacatggatg agacgtgagc acagttatgg cagagaagtt tctccgcacc
     2461 agaattatcc acagcaactt ggctgagccc cactacacac agagaaatca tcaacctgac
     2521 ttaagagttt tcaagatgtc aacttcaggc tgatcagcag atgggatgtg aaaaatacta
     2581 ccctattcta tcatttgctg ttgcttgctg aactgtgaag aactgcatga actatattta
     2641 agctgctttc tgtaccattg ccaatcacct ttttggagtt ggaagtgcta ttttcctatg
     2701 gacttttgca ttatttcatt gtgcatgcat ccagtgatta tacataagca acatatgtaa
     2761 tctgcttata tatttttaaa aatccatcca cacacatggt aaattaagta taaattcttt
     2821 tgcaaaatta tagttcatgt cattgaaagt ttaaattggt ttcatttaaa gatcaatata
     2881 ctaggtctgc cttcacttta tagaaaacta gcttctataa agattttttc actgtttact
     2941 agtgaaatga gaaaagcaaa gctatttata aaaggcctta tgtcgtgtac atacattgtc
     3001 tttgaaatat ttgtgatcta gtttattgct tgtaaaagag aaattatata atttatttag
     3061 taaatactac tgtaaactat agttttgtga gagaaataaa atattttgtt ctcaa
//
