LOCUS       NM_001135219            2176 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens phosphatidylinositol-4-phosphate 5-kinase like 1
            (PIP5KL1), transcript variant 1, mRNA.
ACCESSION   NM_001135219
VERSION     NM_001135219.2
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 2176)
  AUTHORS   Chinnarasu,S., Alogaili,F., Bove,K.E., Jaeschke,A. and Hui,D.Y.
  TITLE     Hepatic LDL receptor-related protein-1 deficiency alters
            mitochondrial dynamics through phosphatidylinositol
            4,5-bisphosphate reduction
  JOURNAL   J Biol Chem 296, 100370 (2021)
   PUBMED   33548224
REFERENCE   2  (bases 1 to 2176)
  AUTHORS   Yang,Y., Park,M., Maekawa,M. and Fairn,G.D.
  TITLE     Enforced expression of phosphatidylinositol 4-phosphate 5-kinase
            homolog alters PtdIns(4,5)P2 distribution and the localization of
            small G-proteins
  JOURNAL   Sci Rep 9 (1), 14789 (2019)
   PUBMED   31616009
  REMARK    GeneRIF: Enforced expression of phosphatidylinositol 4-phosphate
            5-kinase homolog alters PtdIns(4,5)P2 distribution and the
            localization of small G-proteins.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2176)
  AUTHORS   Shi,L., Zhao,M., Luo,Q., Ma,Y.M., Zhong,J.L., Yuan,X.H. and
            Huang,C.Z.
  TITLE     Overexpression of PIP5KL1 suppresses cell proliferation and
            migration in human gastric cancer cells
  JOURNAL   Mol Biol Rep 37 (5), 2189-2198 (2010)
   PUBMED   19680787
  REMARK    GeneRIF: These studies indicate a functional negative correlation
            between elevated levels of PIP5KL1 and the development of human
            gastric cancer.
REFERENCE   4  (bases 1 to 2176)
  AUTHORS   Wang,L., Gao,X., Gao,P., Deng,W., Yu,P., Ma,J., Guo,J., Wang,X.,
            Cheng,H., Zhang,C., Yu,C., Ma,X., Lv,B., Lu,Y., Shi,T. and Ma,D.
  TITLE     Cell-based screening and validation of human novel genes associated
            with cell viability
  JOURNAL   J Biomol Screen 11 (4), 369-376 (2006)
   PUBMED   16751333
REFERENCE   5  (bases 1 to 2176)
  AUTHORS   Chang,J.D., Field,S.J., Rameh,L.E., Carpenter,C.L. and Cantley,L.C.
  TITLE     Identification and characterization of a phosphoinositide phosphate
            kinase homolog
  JOURNAL   J Biol Chem 279 (12), 11672-11679 (2004)
   PUBMED   14701839
  REMARK    GeneRIF: PIPKH acts as a scaffold to localize and regulate type I
            PI(4)P 5-kinases and the synthesis of PI(3,4,5)P(3)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL157935.28, BE881330.1 and BC042184.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001135219.1.
            
            Summary: PIP5KL1 is a phosphoinositide kinase-like protein that
            lacks intrinsic lipid kinase activity but associates with type I
            PIPKs (see PIP5K1A; MIM 603275) and may play a role in localization
            of PIPK activity (Chang et al., 2004 [PubMed 14701839]).[supplied
            by OMIM, Jun 2009].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by mouse homolog.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.2060291.1,
                                           SRR14038192.274991.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000388747.9/ ENSP00000373399.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-55                AL157935.28        104056-104110       c
            56-253              AL157935.28        103021-103218       c
            254-304             AL157935.28        101766-101816       c
            305-459             AL157935.28        101398-101552       c
            460-675             BE881330.1         63-278
            676-1528            BC042184.1         252-1104
            1529-2176           AL157935.28        94214-94861         c
FEATURES             Location/Qualifiers
     source          1..2176
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..2176
                     /gene="PIP5KL1"
                     /gene_synonym="PIPKH"
                     /note="phosphatidylinositol-4-phosphate 5-kinase like 1"
                     /db_xref="GeneID:138429"
                     /db_xref="HGNC:HGNC:28711"
                     /db_xref="MIM:612865"
     exon            1..55
                     /gene="PIP5KL1"
                     /gene_synonym="PIPKH"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..1210
                     /gene="PIP5KL1"
                     /gene_synonym="PIPKH"
                     /EC_number="2.7.1.68"
                     /note="isoform 1 is encoded by transcript variant 1;
                     phosphatidylinositol phosphate kinase homolog; PI(4)P
                     5-kinase-like protein 1; ptdIns(4)P-5-kinase-like protein
                     1; phosphatidylinositol 4-phosphate 5-kinase-like protein
                     1"
                     /codon_start=1
                     /product="phosphatidylinositol 4-phosphate 5-kinase-like
                     protein 1 isoform 1"
                     /protein_id="NP_001128691.1"
                     /db_xref="CCDS:CCDS48030.1"
                     /db_xref="GeneID:138429"
                     /db_xref="HGNC:HGNC:28711"
                     /db_xref="MIM:612865"
                     /translation="MAAPSPGPREVLAPSPEAGCRAVTSSRRGLLWRLRDKQSRLGLF
                     EISPGHELHGMTCMMQAGLWAATQVSMDHPPTGPPSRDDFSEVLTQVHEGFELGTLAG
                     PAFAWLRRSLGLAEEDYQAALGPGGPYLQFLSTSKSKASFFLSHDQRFFLKTQGRREV
                     QALLAHLPRYVQHLQRHPHSLLARLLGVHSLRVDRGKKTYFIVMQSVFYPAGRISERY
                     DIKGCEVSRWVDPAPEGSPLVLVLKDLNFQGKTINLGPQRSWFLRQMELDTTFLRELN
                     VLDYSLLIAFQRLHEDERGPGSSLIFRTARSVQGAQSPEESRAQNRRLLPDAPNALHI
                     LDGPEQRYFLGVVDLATVYGLRKRLEHLWKTLRYPGRTFSTVSPARYARRLCQWVEAH
                     TE"
     exon            56..253
                     /gene="PIP5KL1"
                     /gene_synonym="PIPKH"
                     /inference="alignment:Splign:2.1.0"
     exon            254..304
                     /gene="PIP5KL1"
                     /gene_synonym="PIPKH"
                     /inference="alignment:Splign:2.1.0"
     exon            305..459
                     /gene="PIP5KL1"
                     /gene_synonym="PIPKH"
                     /inference="alignment:Splign:2.1.0"
     exon            460..584
                     /gene="PIP5KL1"
                     /gene_synonym="PIPKH"
                     /inference="alignment:Splign:2.1.0"
     exon            585..619
                     /gene="PIP5KL1"
                     /gene_synonym="PIPKH"
                     /inference="alignment:Splign:2.1.0"
     exon            620..675
                     /gene="PIP5KL1"
                     /gene_synonym="PIPKH"
                     /inference="alignment:Splign:2.1.0"
     exon            676..788
                     /gene="PIP5KL1"
                     /gene_synonym="PIPKH"
                     /inference="alignment:Splign:2.1.0"
     exon            789..942
                     /gene="PIP5KL1"
                     /gene_synonym="PIPKH"
                     /inference="alignment:Splign:2.1.0"
     exon            943..2176
                     /gene="PIP5KL1"
                     /gene_synonym="PIPKH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1504..1509
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIP5KL1"
                     /gene_synonym="PIPKH"
                     /note="hexamer: AATAAA"
     polyA_site      1528
                     /gene="PIP5KL1"
                     /gene_synonym="PIPKH"
     regulatory      2153..2158
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIP5KL1"
                     /gene_synonym="PIPKH"
                     /note="hexamer: ATTAAA"
     polyA_site      2176
                     /gene="PIP5KL1"
                     /gene_synonym="PIPKH"
                     /note="major polyA site"
ORIGIN      
        1 agcccgggaa gctgctgcgg gggcgatggc tgcgccgagc ccggggcccc gcgaggtcct
       61 ggccccctcc cctgaggctg gatgcagagc agtcacctcc agccggcggg ggcttctctg
      121 gcgcctccga gacaagcagt ctcgcctggg cctgtttgag atcagcccgg ggcatgaact
      181 gcatgggatg acgtgcatga tgcaggcagg gctgtgggct gccacccagg tctccatgga
      241 ccacccaccc acggggccgc cctcccggga cgatttctcg gaggtcctaa cccaggttca
      301 cgagggcttc gagctgggca cgctggccgg ccccgccttt gcctggctgc gccgctccct
      361 gggcctggcg gaggaggact atcaggctgc cctgggcccc ggcggcccct acctgcagtt
      421 cctcagcacc tccaagagca aggccagctt cttcctgtcc cacgaccagc gcttcttcct
      481 gaagacccag gggcgccgag aggtgcaggc tctgctcgcc cacctgcccc gctacgtgca
      541 gcacctgcag cggcacccgc actcgctgct ggcgcggttg ctgggagtgc acagtctgcg
      601 ggtggaccgg ggaaagaaga cgtacttcat cgtcatgcag agcgtcttct accccgccgg
      661 ccgcatctcc gagaggtatg acatcaaagg ctgcgaggtg agccgctggg tggatcccgc
      721 ccctgagggc agcccccttg ttctggtgct gaaggacctc aactttcagg gcaagaccat
      781 caacctgggg ccccagcgga gctggttcct ccgccagatg gaactggata ccaccttcct
      841 ccgggagctc aacgtgctgg attacagcct cctgatagcc ttccaacgtc tccacgagga
      901 tgagaggggc ccgggcagca gcctcatctt ccgcacggcc aggtctgtgc aaggggcaca
      961 gagcccggaa gagtcgagag cccaaaaccg ccggctgctg cccgacgccc ccaacgccct
     1021 acacatcctg gacgggcccg agcagcgcta tttcctgggc gtcgtggatc tcgccacagt
     1081 ctacgggctc cgcaagcggc tggagcacct gtggaagaca ctgcgctacc caggccggac
     1141 cttctccact gtcagcccgg ctcgctacgc ccgtcgcctc tgccagtggg tggaggcgca
     1201 cacggagtga cgggcgcccg gccccactct ccggatctgg acgatgggct cacgccagga
     1261 acgccggttc ccccgggccc gggcatctcg cctgcgcttc ctcctgatgg tcgccagagg
     1321 gcagcatccc ctaactaata ccgtaaccgc gcagtcccgt ttgacggtgg tgccgtgccc
     1381 agcatcgtgc caaggactcc cctactttag ctcatttaat cctcaaaaaa tgctattatt
     1441 ctctttttac agaccatgaa atggaggctc agggggtgaa gggactgatc aagatcattc
     1501 agcaataaat gctggaacca ggactcaacc atggcttttg gattccggag cctgtattct
     1561 taaccaccag ctcctgcagc ttggtcctca tgatctgggc aaggggggag gctgaaggct
     1621 gcagccctct tgtcatccag atggggaaac tgaggcccag agactttaag gggcgtaagc
     1681 acgggtaagt ggcaaggtcg gccctgagta cccaggcctc ccggccccct gctcctggcc
     1741 tgatactcta gggatgcagg tgggagaagc aggggtcctg ggggctgcct ggagctctgg
     1801 gaggcattct gaacggggtc tactactgat ctcaggtgag ctctgccctc ctctgaaagt
     1861 cacttttctc atcagttaaa tgggggcaag ggtccgtggt ccgaccaagg tcttggcttc
     1921 acagacatca ccaggagcct gcatgcccct gatcactcct tctccttcct ccaggaaact
     1981 ccagcctggc ctctgacccc agttcaatcc gaccatgccc aagcccaagc gggcctttcc
     2041 tccagaactg ctccggggcc tggctgtgtg actggagcaa ggtgctaaac ctctctgtgc
     2101 ctcgctggtc taatctgtaa aatgaaggaa tggaaacaga cctcattaac tcattaaata
     2161 tttgttgagc acctgc
//
