LOCUS       NM_014489               1963 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript
            variant 1, mRNA.
ACCESSION   NM_014489
VERSION     NM_014489.4
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 1963)
  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   2  (bases 1 to 1963)
  AUTHORS   Thompson,M.D., Knaus,A.A., Barshop,B.A., Caliebe,A., Muhle,H.,
            Nguyen,T.T.M., Baratang,N.V., Kinoshita,T., Percy,M.E.,
            Campeau,P.M., Murakami,Y., Cole,D.E., Krawitz,P.M. and Mabry,C.C.
  TITLE     A post glycosylphosphatidylinositol (GPI) attachment to proteins,
            type 2 (PGAP2) variant identified in Mabry syndrome index cases:
            Molecular genetics of the prototypical inherited GPI disorder
  JOURNAL   Eur J Med Genet 63 (4), 103822 (2020)
   PUBMED   31805394
  REMARK    GeneRIF: A post glycosylphosphatidylinositol (GPI) attachment to
            proteins, type 2 (PGAP2) variant identified in Mabry syndrome index
            cases: Molecular genetics of the prototypical inherited GPI
            disorder.
REFERENCE   3  (bases 1 to 1963)
  AUTHORS   Hirata,T., Mishra,S.K., Nakamura,S., Saito,K., Motooka,D.,
            Takada,Y., Kanzawa,N., Murakami,Y., Maeda,Y., Fujita,M.,
            Yamaguchi,Y. and Kinoshita,T.
  TITLE     Identification of a Golgi GPI-N-acetylgalactosamine transferase
            with tandem transmembrane regions in the catalytic domain
  JOURNAL   Nat Commun 9 (1), 405 (2018)
   PUBMED   29374258
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1963)
  AUTHORS   Perez,Y., Wormser,O., Sadaka,Y., Birk,R., Narkis,G. and Birk,O.S.
  TITLE     A Rare Variant in PGAP2 Causes Autosomal Recessive
            Hyperphosphatasia with Mental Retardation Syndrome, with a Mild
            Phenotype in Heterozygous Carriers
  JOURNAL   Biomed Res Int 2017, 3470234 (2017)
   PUBMED   29119105
  REMARK    GeneRIF: A Rare Variant in PGAP2 Causes Autosomal Recessive
            Hyperphosphatasia with Mental Retardation Syndrome, with a Mild
            Phenotype in Heterozygous Carriers.
REFERENCE   5  (bases 1 to 1963)
  AUTHORS   Jezela-Stanek,A., Ciara,E., Piekutowska-Abramczuk,D., Trubicka,J.,
            Jurkiewicz,E., Rokicki,D., Mierzewska,H., Spychalska,J.,
            Uhrynowska,M., Szwarc-Bronikowska,M., Buda,P., Said,A.R.,
            Jamroz,E., Rydzanicz,M., Ploski,R., Krajewska-Walasek,M. and
            Pronicka,E.
  TITLE     Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor
            biosynthesis--The phenotype of two patients with novel mutations in
            the PIGN and PGAP2 genes
  JOURNAL   Eur J Paediatr Neurol 20 (3), 462-473 (2016)
   PUBMED   26879448
REFERENCE   6  (bases 1 to 1963)
  AUTHORS   Krawitz,P.M., Murakami,Y., Riess,A., Hietala,M., Kruger,U., Zhu,N.,
            Kinoshita,T., Mundlos,S., Hecht,J., Robinson,P.N. and Horn,D.
  TITLE     PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause
            hyperphosphatasia with mental retardation syndrome
  JOURNAL   Am J Hum Genet 92 (4), 584-589 (2013)
   PUBMED   23561847
  REMARK    GeneRIF: PGAP2 mutations, affecting the GPI-anchor-synthesis
            pathway, cause hyperphosphatasia with mental retardation syndrome.
REFERENCE   7  (bases 1 to 1963)
  AUTHORS   Hansen,L., Tawamie,H., Murakami,Y., Mang,Y., ur Rehman,S.,
            Buchert,R., Schaffer,S., Muhammad,S., Bak,M., Nothen,M.M.,
            Bennett,E.P., Maeda,Y., Aigner,M., Reis,A., Kinoshita,T.,
            Tommerup,N., Baig,S.M. and Abou Jamra,R.
  TITLE     Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling
            protein, cause autosomal-recessive intellectual disability
  JOURNAL   Am J Hum Genet 92 (4), 575-583 (2013)
   PUBMED   23561846
  REMARK    GeneRIF: Hypomorphic mutations in PGAP2, encoding a
            GPI-anchor-remodeling protein, cause autosomal-recessive
            intellectual disability.
REFERENCE   8  (bases 1 to 1963)
  AUTHORS   Abou Jamra,R., Wohlfart,S., Zweier,M., Uebe,S., Priebe,L.,
            Ekici,A., Giesebrecht,S., Abboud,A., Al Khateeb,M.A., Fakher,M.,
            Hamdan,S., Ismael,A., Muhammad,S., Nothen,M.M., Schumacher,J. and
            Reis,A.
  TITLE     Homozygosity mapping in 64 Syrian consanguineous families with
            non-specific intellectual disability reveals 11 novel loci and high
            heterogeneity
  JOURNAL   Eur J Hum Genet 19 (11), 1161-1166 (2011)
   PUBMED   21629298
REFERENCE   9  (bases 1 to 1963)
  AUTHORS   Tashima,Y., Taguchi,R., Murata,C., Ashida,H., Kinoshita,T. and
            Maeda,Y.
  TITLE     PGAP2 is essential for correct processing and stable expression of
            GPI-anchored proteins
  JOURNAL   Mol Biol Cell 17 (3), 1410-1420 (2006)
   PUBMED   16407401
REFERENCE   10 (bases 1 to 1963)
  AUTHORS   Lorenzi,M.V., Castagnino,P., Aaronson,D.C., Lieb,D.C., Lee,C.C.,
            Keck,C.L., Popescu,N.C. and Miki,T.
  TITLE     Human FRAG1 encodes a novel membrane-spanning protein that
            localizes to chromosome 11p15.5, a region of frequent loss of
            heterozygosity in cancer
  JOURNAL   Genomics 62 (1), 59-66 (1999)
   PUBMED   10585768
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF159615.1 and AL096753.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_014489.3.
            
            Summary: The protein encoded by this gene plays a role in the
            maturation of glycosylphosphatidylinositol (GPI) anchors on
            GPI-anchored proteins. Mutations in this gene are associated with
            an autosomal recessive syndrome characterized by hyperphosphatasia
            and intellectual disability. [provided by RefSeq, Jul 2017].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF159615.1, SRR14038195.105127.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278243.9/ ENSP00000278243.4
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1913              AF159615.1         27-1939
            1914-1963           AL096753.1         1763-1812
FEATURES             Location/Qualifiers
     source          1..1963
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..1963
                     /gene="PGAP2"
                     /gene_synonym="CWH43-N; FRAG1; HPMRS3; MRT17; MRT21"
                     /note="post-GPI attachment to proteins 2"
                     /db_xref="GeneID:27315"
                     /db_xref="HGNC:HGNC:17893"
                     /db_xref="MIM:615187"
     exon            1..92
                     /gene="PGAP2"
                     /gene_synonym="CWH43-N; FRAG1; HPMRS3; MRT17; MRT21"
                     /inference="alignment:Splign:2.1.0"
     exon            93..267
                     /gene="PGAP2"
                     /gene_synonym="CWH43-N; FRAG1; HPMRS3; MRT17; MRT21"
                     /inference="alignment:Splign:2.1.0"
     CDS             103..1050
                     /gene="PGAP2"
                     /gene_synonym="CWH43-N; FRAG1; HPMRS3; MRT17; MRT21"
                     /note="isoform 1 is encoded by transcript variant 1; FGF
                     receptor activating protein 1; cell wall biogenesis 43
                     N-terminal homolog; post-GPI attachment to proteins factor
                     2"
                     /codon_start=1
                     /product="post-GPI attachment to proteins factor 2 isoform
                     1"
                     /protein_id="NP_055304.1"
                     /db_xref="CCDS:CCDS7747.1"
                     /db_xref="GeneID:27315"
                     /db_xref="HGNC:HGNC:17893"
                     /db_xref="MIM:615187"
                     /translation="MYQVPLPLDRDGTLVRLRFTMVALVTVCCPLVAFLFCILWSLLF
                     HFKETTATHCGATPCRMFSAASQPLDPDGTLFRLRFTAMVWWAITFPVFGFFFCIIWS
                     LVFHFEYTVATDCGVPNYLPSVSSAIGGEVPQRYVWRFCIGLHSAPRFLVAFAYWNHY
                     LSCTSPCSCYRPLCRLNFGLNVVENLALLVLTYVSSSEDFTIHENAFIVFIASSLGHM
                     LLTCILWRLTKKHTVSQEDRKSYSWKQRLFIINFISFFSALAVYFRHNMYCEAGVYTI
                     FAILEYTVVLTNMAFHMTAWWDFGNKELLITSQPEEKRF"
     exon            268..450
                     /gene="PGAP2"
                     /gene_synonym="CWH43-N; FRAG1; HPMRS3; MRT17; MRT21"
                     /inference="alignment:Splign:2.1.0"
     exon            451..703
                     /gene="PGAP2"
                     /gene_synonym="CWH43-N; FRAG1; HPMRS3; MRT17; MRT21"
                     /inference="alignment:Splign:2.1.0"
     exon            704..810
                     /gene="PGAP2"
                     /gene_synonym="CWH43-N; FRAG1; HPMRS3; MRT17; MRT21"
                     /inference="alignment:Splign:2.1.0"
     exon            811..919
                     /gene="PGAP2"
                     /gene_synonym="CWH43-N; FRAG1; HPMRS3; MRT17; MRT21"
                     /inference="alignment:Splign:2.1.0"
     exon            920..1963
                     /gene="PGAP2"
                     /gene_synonym="CWH43-N; FRAG1; HPMRS3; MRT17; MRT21"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1922..1927
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGAP2"
                     /gene_synonym="CWH43-N; FRAG1; HPMRS3; MRT17; MRT21"
                     /note="hexamer: AATAAA"
     polyA_site      1944
                     /gene="PGAP2"
                     /gene_synonym="CWH43-N; FRAG1; HPMRS3; MRT17; MRT21"
                     /note="major polyA site"
ORIGIN      
        1 gttcgcgctc tgaccagccc gcagagccag cccccgaccc cgggccacct gggcccccgg
       61 gttccgccgg cactctcgcc accaccgcgt gggtctgaca agatgtacca ggtcccacta
      121 ccactggatc gggatgggac cctggtacgg ctccgcttca ccatggtggc cctggtcacg
      181 gtctgctgtc cacttgtcgc cttcctcttc tgcatcctct ggtccctgct cttccacttc
      241 aaggagacaa cggccacaca ctgtggggcc acgccctgca ggatgttctc tgcggcctcc
      301 cagcctttgg accccgatgg gaccttgttc cggcttcgct tcacagccat ggtctggtgg
      361 gccatcactt ttcctgtgtt cggcttcttc ttctgcatca tctggtccct ggtgttccac
      421 tttgagtaca cggtggccac tgactgtggg gtgcccaatt acctgccctc ggtgagctca
      481 gccatcggcg gggaggtgcc ccagcgctac gtgtggcgtt tctgcatcgg cctgcactcg
      541 gcgcctcgct tcttggtggc cttcgcctac tggaaccact acctcagctg cacctccccg
      601 tgttcctgct atcgcccgct ctgccgcctc aacttcggcc tcaatgtcgt ggagaacctc
      661 gcgttgctag tgctcactta tgtctcctcc tccgaggact tcaccatcca cgaaaatgct
      721 ttcattgtgt tcattgcctc atccctcggg cacatgctcc tcacctgcat tctctggcgg
      781 ttgaccaaga agcacacagt aagtcaggag gatcgcaagt cctacagctg gaaacagcgg
      841 ctcttcatca tcaacttcat ctccttcttc tcggcgctgg ctgtctactt tcggcacaac
      901 atgtattgtg aggctggagt gtacaccatc tttgccatcc tggagtacac tgttgtctta
      961 accaacatgg cgttccacat gacggcctgg tgggacttcg ggaacaagga gctgctcata
     1021 acctctcagc ctgaggaaaa gcgattctga acccttcagt cctgcttggg aggacgcagc
     1081 ccactgccca gaaacaagaa acacgatacc attctggcct tccccacccc acatcctctc
     1141 ttggccttac tgaagatggg ggaagggtaa gaaggaaggg tgtaggccaa ggctcacccc
     1201 agtgctgctg gcttctcctc tccacccctc atatgggcgt ggggtcctca aacatcacct
     1261 ttacctgaga ggccccaaga agctgagctg gcagagagct ccaccatttg gtgctaaaaa
     1321 aaaaaacgtc ctgaggttca tgaccaccat ccagtttctg gcctttacac agtcaccttt
     1381 cactgaggtc aggagcccct gagcagtggc tgctccctga caaccacagc catttctctg
     1441 cacgggggtc attcatagga ctaatgtatt tcatgatcta ctgtgcacat ccaggcctgt
     1501 ggccacagtc ccctgctaaa gttgctcagg tgttctagtc ctgacttcac ctttttgatt
     1561 tggtgtgtgc cctagggtat gtacccttcc ccatctgagc ctcggtgtgt ccatgtgtct
     1621 ggcgggggat gggtggactg tatgatttcc aaggactcta ccagtcagtg gttctgatgt
     1681 catcgggtgg aggtggtgtt ctatacctaa aggatgacct gctccagaaa cagcaccagc
     1741 acagcatgta ttttcttctc ttctgaaagt tctggcttgt agacccctcc cctcctttgc
     1801 aaaggtatgg gatagagggg tcagatgcag atctctactg taaaatgggc tccctggtat
     1861 ctcctgtctt ccctactgct ccaaacccta aattttggtt gtacatttta tttgaaagga
     1921 aaataaattt tttttttggg ccaacagttg cctaggcttg cta
//
