LOCUS       NM_014016               3574 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens SAC1 like phosphatidylinositide phosphatase (SACM1L),
            transcript variant 1, mRNA.
ACCESSION   NM_014016
VERSION     NM_014016.5
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 3574)
  AUTHORS   Popescu,M.A., Patriche,D., Dobrica,M.O., Pantazica,A.M., Flintoaca
            Alexandru,P.R., Rouille,Y., Popescu,C.I. and Branza-Nichita,N.
  TITLE     Sac1 phosphatidylinositol 4-phosphate phosphatase is a novel host
            cell factor regulating hepatitis B virus particles assembly and
            release
  JOURNAL   FEBS J 289 (23), 7486-7499 (2022)
   PUBMED   35816160
  REMARK    GeneRIF: Sac1 phosphatidylinositol 4-phosphate phosphatase is a
            novel host cell factor regulating hepatitis B virus particles
            assembly and release.
REFERENCE   2  (bases 1 to 3574)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 3574)
  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 3574)
  AUTHORS   Miao,G., Zhang,Y., Chen,D. and Zhang,H.
  TITLE     The ER-Localized Transmembrane Protein TMEM39A/SUSR2 Regulates
            Autophagy by Controlling the Trafficking of the PtdIns(4)P
            Phosphatase SAC1
  JOURNAL   Mol Cell 77 (3), 618-632 (2020)
   PUBMED   31806350
REFERENCE   5  (bases 1 to 3574)
  AUTHORS   Loughran,G., Chou,M.Y., Ivanov,I.P., Jungreis,I., Kellis,M.,
            Kiran,A.M., Baranov,P.V. and Atkins,J.F.
  TITLE     Evidence of efficient stop codon readthrough in four mammalian
            genes
  JOURNAL   Nucleic Acids Res 42 (14), 8928-8938 (2014)
   PUBMED   25013167
REFERENCE   6  (bases 1 to 3574)
  AUTHORS   Liu,Y., Boukhelifa,M., Tribble,E., Morin-Kensicki,E., Uetrecht,A.,
            Bear,J.E. and Bankaitis,V.A.
  TITLE     The Sac1 phosphoinositide phosphatase regulates Golgi membrane
            morphology and mitotic spindle organization in mammals
  JOURNAL   Mol Biol Cell 19 (7), 3080-3096 (2008)
   PUBMED   18480408
  REMARK    GeneRIF: Sac1 executes an essential household function in mammals
            that involves organization of both Golgi membranes and mitotic
            spindles
REFERENCE   7  (bases 1 to 3574)
  AUTHORS   Rohde,H.M., Cheong,F.Y., Konrad,G., Paiha,K., Mayinger,P. and
            Boehmelt,G.
  TITLE     The human phosphatidylinositol phosphatase SAC1 interacts with the
            coatomer I complex
  JOURNAL   J Biol Chem 278 (52), 52689-52699 (2003)
   PUBMED   14527956
  REMARK    GeneRIF: the enzymatic function of hSAC1 provides a switch for
            accessibility of the COPI interaction motif
REFERENCE   8  (bases 1 to 3574)
  AUTHORS   Kiss,H., Kedra,D., Kiss,C., Kost-Alimova,M., Yang,Y., Klein,G.,
            Imreh,S. and Dumanski,J.P.
  TITLE     The LZTFL1 gene is a part of a transcriptional map covering 250 kb
            within the common eliminated region 1 (C3CER1) in 3p21.3
  JOURNAL   Genomics 73 (1), 10-19 (2001)
   PUBMED   11352561
REFERENCE   9  (bases 1 to 3574)
  AUTHORS   Nemoto,Y., Kearns,B.G., Wenk,M.R., Chen,H., Mori,K., Alb,J.G. Jr.,
            De Camilli,P. and Bankaitis,V.A.
  TITLE     Functional characterization of a mammalian Sac1 and mutants
            exhibiting substrate-specific defects in phosphoinositide
            phosphatase activity
  JOURNAL   J Biol Chem 275 (44), 34293-34305 (2000)
   PUBMED   10887188
REFERENCE   10 (bases 1 to 3574)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC322649.1, AB020658.1 and
            CA335989.1.
            
            On Nov 22, 2018 this sequence version replaced NM_014016.4.
            
            Summary: This gene encodes an integral membrane protein, which is
            localized to the endoplasmic reticulum, and functions as a
            phosphoinositide phosphatase that hydrolyzes phosphatidylinositol
            3-phosphate, phosphatidylinositol 4-phosphate, and
            phosphatidylinositol 3,5-bisphosphate. Deletion of this gene in
            mouse results in preimplantation lethality. Other studies suggest
            that this gene is also involved in the organization of golgi
            membranes and mitotic spindles. Alternatively spliced transcript
            variants have been found for this gene. A C-terminally extended
            isoform is also predicted to be produced by the use of an
            alternative in-frame, downstream translation termination codon via
            a stop codon readthrough mechanism.[provided by RefSeq, Dec 2017].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes two isoforms, which result from the use of
            alternative in-frame translation termination codons. The shorter
            isoform (1) results from translation termination at the upstream
            UGA stop codon, while the longer isoform (1x) results from UGA stop
            codon readthrough to the downstream UGA termination codon. This
            RefSeq represents the shorter isoform (1).
            
            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 :: SRR1803614.276687.1,
                                           SRR1660809.52292.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000389061.10/ ENSP00000373713.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 DC322649.1         156-156
            2-3573              AB020658.1         1-3572
            3574-3574           CA335989.1         309-309
FEATURES             Location/Qualifiers
     source          1..3574
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..3574
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /note="SAC1 like phosphatidylinositide phosphatase"
                     /db_xref="GeneID:22908"
                     /db_xref="HGNC:HGNC:17059"
                     /db_xref="MIM:606569"
     exon            1..102
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             71..1834
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /EC_number="3.1.3.64"
                     /note="isoform 1 is encoded by transcript variant 1;
                     suppressor of actin 1; phosphatidylinositide phosphatase
                     SAC1; suppressor of actin mutations 1-like protein; SAC1
                     suppressor of actin mutations 1 like;
                     phosphatidylinositol-4-phosphate phosphatase;
                     phosphatidylinositol-3-phosphatase SAC1"
                     /codon_start=1
                     /product="phosphatidylinositol-3-phosphatase SAC1 isoform
                     1"
                     /protein_id="NP_054735.3"
                     /db_xref="CCDS:CCDS33745.1"
                     /db_xref="GeneID:22908"
                     /db_xref="HGNC:HGNC:17059"
                     /db_xref="MIM:606569"
                     /translation="MATAAYEQLKLHITPEKFYVEACDDGADDVLTIDRVSTEVTLAV
                     KKDVPPSAVTRPIFGILGTIHLVAGNYLIVITKKIKVGEFFSHVVWKATDFDVLSYKK
                     TMLHLTDIQLQDNKTFLAMLNHVLNVDGFYFSTTYDLTHTLQRLSNTSPEFQEMSLLE
                     RADQRFVWNGHLLRELSAQPEVHRFALPVLHGFITMHSCSINGKYFDWILISRRSCFR
                     AGVRYYVRGIDSEGHAANFVETEQIVHYNGSKASFVQTRGSIPVFWSQRPNLKYKPLP
                     QISKVANHMDGFQRHFDSQVIIYGKQVIINLINQKGSEKPLEQTFATMVSSLGSGMMR
                     YIAFDFHKECKNMRWDRLSILLDQVAEMQDELSYFLVDSAGQVVANQEGVFRSNCMDC
                     LDRTNVIQSLLARRSLQAQLQRLGVLHVGQKLEEQDEFEKIYKNAWADNANACAKQYA
                     GTGALKTDFTRTGKRTHLGLIMDGWNSMIRYYKNNFSDGFRQDSIDLFLGNYSVDELE
                     SHSPLSVPRDWKFLALPIIMVVAFSMCIICLLMAGDTWTETLAYVLFWGVASIGTFFI
                     ILYNGKDFVDAPRLVQKEKID"
     exon            103..200
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            201..275
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            276..403
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            404..553
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            554..613
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            614..647
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            648..749
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            750..835
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            836..922
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            923..991
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            992..1071
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1072..1170
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..1309
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1310..1379
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1380..1452
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1453..1546
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1547..1639
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1640..1697
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1698..3574
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3551..3556
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /note="hexamer: AATAAA"
     polyA_site      3574
                     /gene="SACM1L"
                     /gene_synonym="SAC1"
                     /note="major polyA site"
ORIGIN      
        1 agagttgtag ccgaggtggc ggcgcggggc ggggcgggcg gagagagaag gaaggaggtg
       61 gttgtgcagg atggcgacgg cggcctacga gcagctgaag ctgcatatca cacctgaaaa
      121 attttatgtg gaagcttgtg atgatggagc agatgacgta cttaccattg accgtgtgtc
      181 cacagaggtt acccttgcag tcaagaaaga tgttcctcct tcagctgtca caagaccaat
      241 atttggtata ctgggcacaa tccatctggt ggcaggtaat tatcttatag tcattaccaa
      301 aaagataaaa gtaggtgaat ttttcagtca tgtagtctgg aaagcaacag attttgatgt
      361 cctttcttat aagaagacaa tgttgcactt aactgatatt cagttacaag ataataaaac
      421 cttcctagcg atgctaaacc atgtcttgaa tgtggatgga ttttactttt caacaacata
      481 tgatttgacc catactttgc agcggctatc caacactagt cctgaattcc aagaaatgag
      541 tctcttggaa agggcagatc agcggtttgt atggaatggt catcttctaa gagaactttc
      601 tgcacagcca gaggttcatc ggtttgccct tccagtgtta catggcttta ttaccatgca
      661 ttcatgttct attaatggaa aatactttga ttggattctc atctcgagga ggagctgttt
      721 cagagctggt gtgcgctatt atgtaagagg aattgattcg gaaggccatg cagctaactt
      781 tgtagaaaca gaacaaattg tgcactacaa tgggagcaaa gcttcgtttg tacagactcg
      841 aggatcaata cctgttttct ggtcccaaag accaaacctc aagtacaaac cactgccaca
      901 gatcagcaaa gtagcaaatc acatggacgg tttccaaagg cattttgatt cccaagtaat
      961 tatttatgga aaacaagtta taatcaatct gattaaccag aagggctcgg agaagccact
     1021 tgagcagaca tttgcaacaa tggtgtcttc cttgggaagt ggaatgatga gatacattgc
     1081 ctttgacttc cataaggaat gtaaaaatat gagatgggat cgactaagta ttttattgga
     1141 tcaggtagca gaaatgcaag atgaattaag ttattttcta gtggactctg ctggccaggt
     1201 ggtggcaaac caggaaggcg tgttccgaag caattgcatg gattgtctag atagaaccaa
     1261 tgtgatccag agtttgttag ctcgtcgttc acttcaggcc caacttcaga gactaggagt
     1321 tttgcatgtg ggacaaaagc ttgaagaaca agatgaattt gagaagattt acaaaaatgc
     1381 ctgggctgac aacgcaaatg cttgtgccaa gcaatatgcg ggaactggtg ccttgaagac
     1441 tgactttacc agaactggaa agagaactca tttgggactt ataatggatg gctggaactc
     1501 aatgatacga tattataaga acaacttttc cgatggattt agacaagatt ccatagactt
     1561 atttcttgga aactattcag tggatgaatt agaatctcat agtcctttaa gtgttccaag
     1621 ggactggaaa ttcctggctt tgcctattat catggttgtt gccttttcaa tgtgcattat
     1681 ctgtttgctt atggctggtg acacttggac agaaacactg gcctatgtgc tcttctgggg
     1741 agttgcaagc attggaacat tttttatcat tctttacaat ggcaaagatt ttgtcgatgc
     1801 tcccagactg gtccagaaag aaaagataga ctgaatttgt atttgtggaa agcggcttgg
     1861 cttggaagat tccattgtgc agaactggag tctttactga cccgctttcc acatcagccc
     1921 aaggtctttt taatgccttt atccaaaagc acatcttgtg ctccatgcag gatgatgaca
     1981 gaattgatct gatgttactg ccttgatggt ctctttacta ttgggacagt tagatttata
     2041 atttgaagct attctgtaat taaaatataa cctgaattca gcttgcagaa tggaagctga
     2101 atctgttcat tgtattctat tgattgtcaa tttaattagc tgttgcagaa taagtaatat
     2161 attttaaaaa cctagctcct ttcattattt aaaacagcaa aattattttt gtagctcagt
     2221 ttcattattg tcattgtaga agcggtcact attagcaggc atacttttcc acacatcttt
     2281 ggacttttct taaaagttca gtaataagct aactgtgttt ataaaatgta agtctcttac
     2341 agacatcaag tagtttgatg agacagtctg tgacttcatg ataggaaaga ggaggatgag
     2401 gtctggggtt ctttaaagtc tctggtgggc tgcctcatga ctttaatcag cttgaactgc
     2461 cagtgcacca gcagtttagg tgtgatgaga gaattcagat atactttatc tttttaaaaa
     2521 agtgtaaata aaatcaaaga atgtaaagtc tatctcttac gctagaggtc caaagctgcc
     2581 tctgttttaa agattatccc aatgtggaag atgcccatga ctggtcagct acttcctcct
     2641 atacattttg gtttctttga gggtcactca ttgagacacg caggcctctg agagggtctt
     2701 gttctagatt tcatattgca cttggagggt aacagctgct ttttcacgca tggtactctt
     2761 gatgtttttc actctgtcaa ggattttgtt ggctatcaat gaatgtgtct aaaacttagt
     2821 gcttccaggt agttatagta ctccaaatca aggaccaact taaacgttaa tttttgtgca
     2881 aaaacaaacc tgaaaaatat gcttcggaaa ctgtgcatag ttctaattgt aagtcagatt
     2941 gtatattcaa attgtaatta agagatttaa atattagaac ggtatgtaag gtagtataat
     3001 taccactatt ttaaataatt cagttaaaca ctgctgcaat atttcagtgt tgtgcttgaa
     3061 aatatgtaca gtttttttcc aatattaata ccttatgttg tccttaaata tttctaaaag
     3121 cgcctttatt tcagcattac ctttttttca tcactatctt ttataaaaca ttaatataag
     3181 tcgttacttt tagaaactaa aggaaataat agctggaaaa ccctctgtag tttaaaatca
     3241 gtcattaaac tcacaatagg gtaagtaaat atagccacct gttaacatgt aaataagcat
     3301 aatttgttcc aaagatggaa tattgaaact tagttcatgt ctgctgtaaa atattattta
     3361 aatgctgctg ggcatttcac ttaaagaact taatgtcaac agctacaaca aagaccaaat
     3421 ctgaactgct aatgtggctg ctttgtaggg aatggactaa tatcagtgtg ttagatctta
     3481 aggtatcagt atttcagaat cctgcgacga ttttatttct aaattcatgt actgtatgtc
     3541 cataagtgaa aataaaatgt catattcttt tcta
//
