LOCUS       NM_144568               1821 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1
            (PIP4P1), transcript variant 2, mRNA.
ACCESSION   NM_144568
VERSION     NM_144568.4
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 1821)
  AUTHORS   Araki,M. and Kontani,K.
  TITLE     Regulation of lysosomal positioning via TMEM55B phosphorylation
  JOURNAL   J Biochem 169 (5), 507-509 (2021)
   PUBMED   33537719
  REMARK    GeneRIF: Regulation of lysosomal positioning via TMEM55B
            phosphorylation.
            Review article
REFERENCE   2  (bases 1 to 1821)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 1821)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1821)
  AUTHORS   Hashimoto,Y., Shirane,M. and Nakayama,K.I.
  TITLE     TMEM55B contributes to lysosomal homeostasis and amino acid-induced
            mTORC1 activation
  JOURNAL   Genes Cells 23 (6), 418-434 (2018)
   PUBMED   29644770
  REMARK    GeneRIF: Results suggest that TMEM55B contributes to assembly of
            the V-ATPase complex in lipid rafts of the lysosomal membrane and
            to subsequent activation of mTORC1.
REFERENCE   5  (bases 1 to 1821)
  AUTHORS   Willett,R., Martina,J.A., Zewe,J.P., Wills,R., Hammond,G.R.V. and
            Puertollano,R.
  TITLE     TFEB regulates lysosomal positioning by modulating TMEM55B
            expression and JIP4 recruitment to lysosomes
  JOURNAL   Nat Commun 8 (1), 1580 (2017)
   PUBMED   29146937
  REMARK    GeneRIF: these data suggest that the TFEB/TMEM55B/JIP4 pathway
            coordinates lysosome movement in response to a variety of stress
            conditions.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1821)
  AUTHORS   Kariuki,S.N., Ghodke-Puranik,Y., Dorschner,J.M., Chrabot,B.S.,
            Kelly,J.A., Tsao,B.P., Kimberly,R.P., Alarcon-Riquelme,M.E.,
            Jacob,C.O., Criswell,L.A., Sivils,K.L., Langefeld,C.D.,
            Harley,J.B., Skol,A.D. and Niewold,T.B.
  TITLE     Genetic analysis of the pathogenic molecular sub-phenotype
            interferon-alpha identifies multiple novel loci involved in
            systemic lupus erythematosus
  JOURNAL   Genes Immun 16 (1), 15-23 (2015)
   PUBMED   25338677
REFERENCE   7  (bases 1 to 1821)
  AUTHORS   Medina,M.W., Bauzon,F., Naidoo,D., Theusch,E., Stevens,K.,
            Schilde,J., Schubert,C., Mangravite,L.M., Rudel,L.L., Temel,R.E.,
            Runz,H. and Krauss,R.M.
  TITLE     Transmembrane protein 55B is a novel regulator of cellular
            cholesterol metabolism
  JOURNAL   Arterioscler Thromb Vasc Biol 34 (9), 1917-1923 (2014)
   PUBMED   25035345
  REMARK    GeneRIF: Expression array profiling was performed on lymphoblastoid
            cell lines from statin clinical trial participants showed
            sterol-regulated expression of TMEM55B. Knockdown promoted LDL
            receptor decay and decreased its cholesterol uptake.
REFERENCE   8  (bases 1 to 1821)
  AUTHORS   Zou,J., Marjanovic,J., Kisseleva,M.V., Wilson,M. and Majerus,P.W.
  TITLE     Type I phosphatidylinositol-4,5-bisphosphate 4-phosphatase
            regulates stress-induced apoptosis
  JOURNAL   Proc Natl Acad Sci U S A 104 (43), 16834-16839 (2007)
   PUBMED   17940011
  REMARK    GeneRIF: Type I phosphatidylinositol-4,5-bisphosphate 4-phosphatase
            (type I 4-phosphatase), an enzyme that dephosphorylates
            phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P(2)), forming
            PtdIns-5-P in vitro, can increase the cellular levels of
            PtdIns-5-P.
REFERENCE   9  (bases 1 to 1821)
  AUTHORS   Ungewickell,A., Hugge,C., Kisseleva,M., Chang,S.C., Zou,J.,
            Feng,Y., Galyov,E.E., Wilson,M. and Majerus,P.W.
  TITLE     The identification and characterization of two
            phosphatidylinositol-4,5-bisphosphate 4-phosphatases
  JOURNAL   Proc Natl Acad Sci U S A 102 (52), 18854-18859 (2005)
   PUBMED   16365287
  REMARK    GeneRIF: identification and characterization of two previously
            undescribed human enzymes, PtdIns-4,5-P(2) 4-phosphatase type I and
            type II
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK314021.1, BX161490.1, CA430067.1 and AL355075.6.
            
            On Feb 27, 2020 this sequence version replaced NM_144568.3.
            
            Summary: TMEM55B catalyzes the degradation of phosphatidylinositol
            4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate
            (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar
            2008].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 5' coding region, compared to variant 1. The
            encoded isoform (2) is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX161490.1, BC002867.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000250489.9/ ENSP00000250489.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 AK314021.1         180-186
            8-1601              BX161490.1         52-1645
            1602-1649           CA430067.1         19-66               c
            1650-1821           AL355075.6         62113-62284
FEATURES             Location/Qualifiers
     source          1..1821
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..1821
                     /gene="PIP4P1"
                     /gene_synonym="C14orf9; TMEM55B"
                     /note="phosphatidylinositol-4,5-bisphosphate 4-phosphatase
                     1"
                     /db_xref="GeneID:90809"
                     /db_xref="HGNC:HGNC:19299"
                     /db_xref="MIM:609865"
     exon            1..251
                     /gene="PIP4P1"
                     /gene_synonym="C14orf9; TMEM55B"
                     /inference="alignment:Splign:2.1.0"
     CDS             110..943
                     /gene="PIP4P1"
                     /gene_synonym="C14orf9; TMEM55B"
                     /EC_number="3.1.3.78"
                     /note="isoform 2 is encoded by transcript variant 2;
                     ptdIns-4,5-P2 4-Ptase I; type 1 PtdIns-4,5-P2 4-Ptase;
                     type 1 phosphatidylinositol 4,5-bisphosphate
                     4-phosphatase; ptdIns-4,5-P(2) 4-phosphatase type I; type
                     I phosphatidylinositol-4,5-bisphosphate 4-phosphatase;
                     type I PtdIns-4,5-P(2) 4-phosphatase; transmembrane
                     protein 55B"
                     /codon_start=1
                     /product="type 1 phosphatidylinositol 4,5-bisphosphate
                     4-phosphatase isoform 2"
                     /protein_id="NP_653169.2"
                     /db_xref="CCDS:CCDS9551.1"
                     /db_xref="GeneID:90809"
                     /db_xref="HGNC:HGNC:19299"
                     /db_xref="MIM:609865"
                     /translation="MAADGERSPLLSEPIDGGAGGNGLVGPGGSGAGPGGGLTPSAPP
                     YGAAFPPFPEGHPAVLPGEDPPPYSPLTSPDSGSAPMITCRVCQSLINVEGKMHQHVV
                     KCGVCNEATPIKNAPPGKKYVRCPCNCLLICKVTSQRIACPRPYCKRIINLGPVHPGP
                     LSPEPQPMGVRVICGHCKNTFLWTEFTDRTLARCPHCRKVSSIGRRYPRKRCICCFLL
                     GLLLAVTATGLAFGTWKHARRYGGIYAAWAFVILLAVLCLGRALYWACMKVSHPVQNF
                     S"
     exon            252..442
                     /gene="PIP4P1"
                     /gene_synonym="C14orf9; TMEM55B"
                     /inference="alignment:Splign:2.1.0"
     exon            443..549
                     /gene="PIP4P1"
                     /gene_synonym="C14orf9; TMEM55B"
                     /inference="alignment:Splign:2.1.0"
     exon            550..655
                     /gene="PIP4P1"
                     /gene_synonym="C14orf9; TMEM55B"
                     /inference="alignment:Splign:2.1.0"
     exon            656..708
                     /gene="PIP4P1"
                     /gene_synonym="C14orf9; TMEM55B"
                     /inference="alignment:Splign:2.1.0"
     exon            709..799
                     /gene="PIP4P1"
                     /gene_synonym="C14orf9; TMEM55B"
                     /inference="alignment:Splign:2.1.0"
     exon            800..1821
                     /gene="PIP4P1"
                     /gene_synonym="C14orf9; TMEM55B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1623..1628
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIP4P1"
                     /gene_synonym="C14orf9; TMEM55B"
                     /note="hexamer: AATAAA"
     polyA_site      1644
                     /gene="PIP4P1"
                     /gene_synonym="C14orf9; TMEM55B"
                     /note="major polyA site"
     polyA_site      1758
                     /gene="PIP4P1"
                     /gene_synonym="C14orf9; TMEM55B"
     polyA_site      1821
                     /gene="PIP4P1"
                     /gene_synonym="C14orf9; TMEM55B"
ORIGIN      
        1 ggggacccgg tagcggcggt ggcggtggcg gcggtggcgg tggctgcggc gacggcagag
       61 gcgaagggag ccggatcgcc gacctgagcg ggaggcggcg gtggcggcca tggcggcaga
      121 tggagagcgt tccccgctgc tgtctgagcc catcgacggt ggcgcgggcg gcaacggttt
      181 agtggggccc ggcgggagtg gggctgggcc cgggggaggc ctgaccccct ccgcaccacc
      241 gtacggagcc gcatttcccc cgtttcccga ggggcatcca gccgtgttgc ctggggagga
      301 cccacccccc tattcaccct taactagccc ggacagtggg agtgccccta tgatcacctg
      361 ccgagtctgc caatctctca tcaacgtgga aggcaagatg catcagcatg tagtcaaatg
      421 tggtgtctgc aatgaagcca ccccaatcaa gaatgcaccc ccagggaaaa aatatgttcg
      481 atgcccctgt aactgtctcc ttatctgcaa agtgacatcc caacggattg catgccctcg
      541 gccctactgc aaaagaatca tcaacctggg gcctgtgcat cccggacctc tgagtccaga
      601 accccaaccc atgggtgtca gggttatctg tggacattgc aagaatactt ttctgtggac
      661 agagttcaca gaccgcactt tggcacgttg tcctcactgc aggaaagtgt catctattgg
      721 gcgcagatac ccacgtaaga gatgtatctg ctgcttcttg cttggcttgc ttttggcagt
      781 cactgccact ggccttgcct ttggcacatg gaagcatgca cggcgatatg gaggcatcta
      841 tgcagcctgg gcatttgtca tcctgttggc tgtgctgtgt ttgggccggg ctctttattg
      901 ggcctgtatg aaggtcagcc accctgtcca gaacttctcc tgagcctgat gacccacaga
      961 ctgtgcctgg cccctccctg gtggggacag tgacactacg aagggagctg gggtagttaa
     1021 aggctcccgg ggcttctaga aggaagccaa gcagctgcct tccttttccc tggggagagg
     1081 taggaaggaa ccaggccctc acttaggttt ggaggggcag ataagagcac tgctgaccat
     1141 ctgctttcct ccaagggttg ctgtgtctag ggtgaagtag gcaaaacgtt gcccttaaaa
     1201 ctgggccctg aagacggttc cagccttgtc cttcctgtgt gctccctgag agccattcct
     1261 gtcccttaca cattccaggg cagggtgggg gtgggtagcc ctgggggttc ccctccctct
     1321 tgtgcaccat taggactttg ctgctgctat tgcacttcac cagaggttgg ctctggcctc
     1381 agtaccctca gtctcctctc cccacattgt gtcctgtggg ggtggggtca gccgctgctc
     1441 tgtacagaac cacaggaact gatgtgtata taactattta atgtgggata tgttccccta
     1501 ttcctgtatt tcccttaatt cctcctcccg acctttttta cccccccagt tgcagtattt
     1561 aactgggctg ggtagggttg ctcagtcttt gggggaggtt agggacttat cctgtgcttg
     1621 taaataaata aggtcatgac tctacgcttt ttcagttgtt aacttgtgtg catgaaaata
     1681 tgaggaagag aatgtgtagc cccacgaagg ggtaagacac gaagacagca aggctgaaac
     1741 tatggctctt tattttcatg tggataattc aaacaaagtc attagtagtc tttgttcaat
     1801 ttttttttaa aaaacaaaaa a
//
