LOCUS       NM_033419               2687 bp    mRNA    linear   PRI 11-DEC-2024
DEFINITION  Homo sapiens post-GPI attachment to proteins phospholipase 3
            (PGAP3), transcript variant 1, mRNA.
ACCESSION   NM_033419
VERSION     NM_033419.5
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 2687)
  AUTHORS   Hao,N., Li,M., Wang,J., Song,Y., Zhao,Y., Zhang,L., Yang,X.,
            Chen,L., Ma,J., Jia,Q. and Sui,F.
  TITLE     High PGAP3 expression is associated with lymph node metastasis and
            low CD8+T cell in patients with HER2+ breast cancer
  JOURNAL   Pathol Res Pract 251, 154890 (2023)
   PUBMED   37839361
  REMARK    GeneRIF: High PGAP3 expression is associated with lymph node
            metastasis and low CD8[+]T cell in patients with HER2[+] breast
            cancer.
REFERENCE   2  (bases 1 to 2687)
  AUTHORS   Altassan,R., Allers,M.M., De Graef,D., Shah,R., de Vries,M.,
            Larson,A., Glamuzina,E. and Morava,E.
  TITLE     Defining the phenotype of PGAP3-congenital disorder of
            glycosylation; a review of 65 cases
  JOURNAL   Mol Genet Metab 140 (3), 107688 (2023)
   PUBMED   37647829
  REMARK    GeneRIF: Defining the phenotype of PGAP3-congenital disorder of
            glycosylation; a review of 65 cases.
            Review article
REFERENCE   3  (bases 1 to 2687)
  AUTHORS   Heft Neal,M.E., Birkeland,A.C., Bhangale,A.D., Zhai,J.,
            Kulkarni,A., Foltin,S.K., Jewell,B.M., Ludwig,M.L., Pinatti,L.,
            Jiang,H., McHugh,J.B., Marentette,L., McKean,E.L. and Brenner,J.C.
  TITLE     Genetic analysis of sinonasal undifferentiated carcinoma discovers
            recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene
  JOURNAL   BMC Cancer 21 (1), 636 (2021)
   PUBMED   34051734
  REMARK    GeneRIF: Genetic analysis of sinonasal undifferentiated carcinoma
            discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1
            fusion gene.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2687)
  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   5  (bases 1 to 2687)
  AUTHORS   Jun,T., Chen,W., Hailing,C., Ning,W. and Qinxue,C.
  TITLE     The novel circular RNA circ-PGAP3 retards cervical cancer growth by
            regulating the miR-769-5p/p53 axis
  JOURNAL   Hum Cell 34 (3), 878-888 (2021)
   PUBMED   33591461
  REMARK    GeneRIF: The novel circular RNA circ-PGAP3 retards cervical cancer
            growth by regulating the miR-769-5p/p53 axis.
REFERENCE   6  (bases 1 to 2687)
  AUTHORS   Fujita,M., Umemura,M., Yoko-o,T. and Jigami,Y.
  TITLE     PER1 is required for GPI-phospholipase A2 activity and involved in
            lipid remodeling of GPI-anchored proteins
  JOURNAL   Mol Biol Cell 17 (12), 5253-5264 (2006)
   PUBMED   17021251
REFERENCE   7  (bases 1 to 2687)
  AUTHORS   Katoh,M. and Katoh,M.
  TITLE     Evolutionary recombination hotspot around GSDML-GSDM locus is
            closely linked to the oncogenomic recombination hotspot around the
            PPP1R1B-ERBB2-GRB7 amplicon
  JOURNAL   Int J Oncol 24 (4), 757-763 (2004)
   PUBMED   15010812
  REMARK    GeneRIF: Oncogenomic recombination hotspot around the
            PPP1R1B-STARD3-TCAP-PNMT-PERLD1-ERBB2-C17orf37-GRB7 amplicon at
            human chromosome 17q12 is closely linked to evolutionary
            recombination hotspot around the GSDML-GSDM locus.
REFERENCE   8  (bases 1 to 2687)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   9  (bases 1 to 2687)
  AUTHORS   Katoh,M. and Katoh,M.
  TITLE     MGC9753 gene, located within PPP1R1B-STARD3-ERBB2-GRB7 amplicon on
            human chromosome 17q12, encodes the seven-transmembrane receptor
            with extracellular six-cystein domain
  JOURNAL   Int J Oncol 22 (6), 1369-1374 (2003)
   PUBMED   12739007
  REMARK    GeneRIF: MGC9753, consisting of eight exons, clustered with
            PPP1R1B, STARD3, TCAP, PNMT, ERBB2, MGC14832 and GRB7 genes within
            the 120-kb region of chromosome 17q12; PPP1R1B, STARD3, MGC9753,
            ERBB2 and GRB7 genes are co-amplified in several cases of gastric
            cancer
REFERENCE   10 (bases 1 to 2687)
  AUTHORS   Nezu,M., Nishigaki,M., Ishizuka,T., Kuwahara,Y., Tanabe,C.,
            Aoyagi,K., Sakamoto,H., Saito,Y., Yoshida,T., Sasaki,H. and
            Terada,M.
  TITLE     Identification of the CAB2/hCOS16 gene required for the repair of
            DNA double-strand breaks on a core amplified region of the 17q12
            locus in breast and gastric cancers
  JOURNAL   Jpn J Cancer Res 93 (11), 1183-1186 (2002)
   PUBMED   12460457
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC389056.1 and BC010652.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_033419.4.
            
            Summary: This gene encodes a glycosylphosphatidylinositol
            (GPI)-specific phospholipase that primarily localizes to the Golgi
            apparatus. This ubiquitously expressed gene is predicted to encode
            a seven-transmembrane protein that removes unsaturated fatty acids
            from the sn-2 position of GPI. The remodeling of the constituent
            fatty acids on GPI is thought to be important for the proper
            association between GPI-anchored proteins and lipid rafts. The
            tethering of proteins to plasma membranes via posttranslational
            GPI-anchoring is thought to play a role in protein sorting and
            trafficking. Mutations in this gene cause an autosomal recessive
            form of neurologic hyperphosphatasia with cognitive disability
            (HPMRS4). Alternative splicing results in multiple transcript
            variants encoding distinct isoforms. [provided by RefSeq, Jul
            2017].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: BC010652.1, SRR1660805.71724.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000300658.9/ ENSP00000300658.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                DC389056.1         15-40
            27-2687             BC010652.1         1-2661
FEATURES             Location/Qualifiers
     source          1..2687
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..2687
                     /gene="PGAP3"
                     /gene_synonym="AGLA546; CAB2; hCOS16; PERLD1; PP1498"
                     /note="post-GPI attachment to proteins phospholipase 3"
                     /db_xref="GeneID:93210"
                     /db_xref="HGNC:HGNC:23719"
                     /db_xref="MIM:611801"
     exon            1..224
                     /gene="PGAP3"
                     /gene_synonym="AGLA546; CAB2; hCOS16; PERLD1; PP1498"
                     /inference="alignment:Splign:2.1.0"
     CDS             44..1006
                     /gene="PGAP3"
                     /gene_synonym="AGLA546; CAB2; hCOS16; PERLD1; PP1498"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; per1-like domain containing 1; post-GPI
                     attachment to proteins factor 3; COS16 homolog; gene
                     coamplified with ERBB2 protein; post-GPI attachment to
                     proteins 3"
                     /codon_start=1
                     /product="post-GPI attachment to proteins factor 3 isoform
                     1 precursor"
                     /protein_id="NP_219487.3"
                     /db_xref="CCDS:CCDS32641.1"
                     /db_xref="GeneID:93210"
                     /db_xref="HGNC:HGNC:23719"
                     /db_xref="MIM:611801"
                     /translation="MAGLAARLVLLAGAAALASGSQGDREPVYRDCVLQCEEQNCSGG
                     ALNHFRSRQPIYMSLAGWTCRDDCKYECMWVTVGLYLQEGHKVPQFHGKWPFSRFLFF
                     QEPASAVASFLNGLASLVMLCRYRTFVPASSPMYHTCVAFAWVSLNAWFWSTVFHTRD
                     TDLTEKMDYFCASTVILHSIYLCCVRTVGLQHPAVVSAFRALLLLMLTVHVSYLSLIR
                     FDYGYNLVANVAIGLVNVVWWLAWCLWNQRRLPHVRKCVVVVLLLQGLSLLELLDFPP
                     LFWVLDAHAIWHISTIPVHVLFFSFLEDDSLYLLKESEDKFKLD"
     exon            225..322
                     /gene="PGAP3"
                     /gene_synonym="AGLA546; CAB2; hCOS16; PERLD1; PP1498"
                     /inference="alignment:Splign:2.1.0"
     exon            323..475
                     /gene="PGAP3"
                     /gene_synonym="AGLA546; CAB2; hCOS16; PERLD1; PP1498"
                     /inference="alignment:Splign:2.1.0"
     exon            476..538
                     /gene="PGAP3"
                     /gene_synonym="AGLA546; CAB2; hCOS16; PERLD1; PP1498"
                     /inference="alignment:Splign:2.1.0"
     exon            539..600
                     /gene="PGAP3"
                     /gene_synonym="AGLA546; CAB2; hCOS16; PERLD1; PP1498"
                     /inference="alignment:Splign:2.1.0"
     exon            601..737
                     /gene="PGAP3"
                     /gene_synonym="AGLA546; CAB2; hCOS16; PERLD1; PP1498"
                     /inference="alignment:Splign:2.1.0"
     exon            738..942
                     /gene="PGAP3"
                     /gene_synonym="AGLA546; CAB2; hCOS16; PERLD1; PP1498"
                     /inference="alignment:Splign:2.1.0"
     exon            943..2687
                     /gene="PGAP3"
                     /gene_synonym="AGLA546; CAB2; hCOS16; PERLD1; PP1498"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2666..2671
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGAP3"
                     /gene_synonym="AGLA546; CAB2; hCOS16; PERLD1; PP1498"
                     /note="hexamer: AATAAA"
     polyA_site      2687
                     /gene="PGAP3"
                     /gene_synonym="AGLA546; CAB2; hCOS16; PERLD1; PP1498"
                     /note="major polyA site"
ORIGIN      
        1 atactcctaa gctcctcccc cggcggcgag ccagggagaa aggatggccg gcctggcggc
       61 gcggttggtc ctgctagctg gggcagcggc gctggcgagc ggctcccagg gcgaccgtga
      121 gccggtgtac cgcgactgcg tactgcagtg cgaagagcag aactgctctg ggggcgctct
      181 gaatcacttc cgctcccgcc agccaatcta catgagtcta gcaggctgga cctgtcggga
      241 cgactgtaag tatgagtgta tgtgggtcac cgttgggctc tacctccagg aaggtcacaa
      301 agtgcctcag ttccatggca agtggccctt ctcccggttc ctgttctttc aagagccggc
      361 atcggccgtg gcctcgtttc tcaatggcct ggccagcctg gtgatgctct gccgctaccg
      421 caccttcgtg ccagcctcct cccccatgta ccacacctgt gtggccttcg cctgggtgtc
      481 cctcaatgca tggttctggt ccacagtttt ccacaccagg gacactgacc tcacagagaa
      541 aatggactac ttctgtgcct ccactgtcat cctacactca atctacctgt gctgcgtcag
      601 gaccgtgggg ctgcagcacc cagctgtggt cagtgccttc cgggctctcc tgctgctcat
      661 gctgaccgtg cacgtctcct acctgagcct catccgcttc gactatggct acaacctggt
      721 ggccaacgtg gctattggcc tggtcaacgt ggtgtggtgg ctggcctggt gcctgtggaa
      781 ccagcggcgg ctgcctcacg tgcgcaagtg cgtggtggtg gtcttgctgc tgcaggggct
      841 gtccctgctc gagctgcttg acttcccacc gctcttctgg gtcctggatg cccatgccat
      901 ctggcacatc agcaccatcc ctgtccacgt cctctttttc agctttctgg aagatgacag
      961 cctgtacctg ctgaaggaat cagaggacaa gttcaagctg gactgaagac cttggagcga
     1021 gtctgcccca gtggggatcc tgcccccgcc ctgctggcct cccttctccc ctcaaccctt
     1081 gagatgattt tctcttttca acttcttgaa cttggacatg aaggatgtgg gcccagaatc
     1141 atgtggccag cccaccccct gttggccctc accagccttg gagtctgttc tagggaaggc
     1201 ctcccagcat ctgggactcg agagtgggca gcccctctac ctcctggagc tgaactgggg
     1261 tggaactgag tgtgctctta gctctaccgg gaggacagct gcctgtttcc tccccatcag
     1321 cctcctcccc acatccccag ctgcctggct gggtcctgaa gccctctgtc tacctgggag
     1381 accagggacc acaggcctta gggatacagg gggtcccctt ctgttaccac cccccaccct
     1441 cctccaggac accactaggt ggtgctggat gcttgttctt tggccagcca aggttcacgg
     1501 cgattctccc catgggatct tgagggacca agctgctggg attgggaagg agtttcaccc
     1561 tgaccattgc cctagccagg ttcccaggag gcctcaccat actccctttc agggccaggg
     1621 ctccagcaag cccagggcaa ggatcctgtg ctgctgtctg gttgagagcc tgccaccgtg
     1681 tgtcgggagt gtgggccagg ctgagtgcat aggtgacagg gccgtgagca tgggcctggg
     1741 tgtgtgtgag ctcaggccta ggtgcgcagt gtggagacgg gtgttgtcgg ggaagaggtg
     1801 tggcttcaaa gtgtgtgtgt gcagggggtg ggtgtgttag cgtgggttag gggaacgtgt
     1861 gtgcgcgtgc tggtgggcat gtgagatgag tgactgccgg tgaatgtgtc cacagttgag
     1921 aggttggagc aggatgaggg aatcctgtca ccatcaataa tcacttgtgg agcgccagct
     1981 ctgcccaagg cgccacctgg gcggacagcc aggagctctc catggccagg ctgcctgtgt
     2041 gcatgttccc tgtctggtgc ccctttgccc gcctcctgca aacctcacag ggtccccaca
     2101 caacagtgcc ctccagaagc agcccctcgg aggcagagga aggaaaatgg ggatggctgg
     2161 ggctctctcc atcctccttt tctccttgcc ttcgcatggc tggccttccc ctccaaaacc
     2221 tccattcccc tgctgccagc ccctttgcca tagcctgatt ttggggagga ggaaggggcg
     2281 atttgaggga gaaggggaga aagcttatgg ctgggtctgg tttcttccct tcccagaggg
     2341 tcttactgtt ccagggtggc cccagggcag gcaggggcca cactatgcct gcgccctggt
     2401 aaaggtgacc cctgccattt accagcagcc ctggcatgtt cctgccccac aggaatagaa
     2461 tggagggagc tccagaaact ttccatccca aaggcagtct ccgtggttga agcagactgg
     2521 atttttgctc tgcccctgac cccttgtccc tctttgaggg aggggagcta tgctaggact
     2581 ccaacctcag ggactcgggt ggcctgcgct agcttctttt gatactgaaa acttttaagg
     2641 tgggagggtg gcaagggatg tgcttaataa atcaattcca agcctca
//
