LOCUS       NM_005482               4601 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens phosphatidylinositol glycan anchor biosynthesis class
            K (PIGK), mRNA.
ACCESSION   NM_005482
VERSION     NM_005482.3
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 4601)
  AUTHORS   Liu,S.S., Jin,F., Liu,Y.S., Murakami,Y., Sugita,Y., Kato,T.,
            Gao,X.D., Kinoshita,T., Hattori,M. and Fujita,M.
  TITLE     Functional Analysis of the GPI Transamidase Complex by Screening
            for Amino Acid Mutations in Each Subunit
  JOURNAL   Molecules 26 (18), 5462 (2021)
   PUBMED   34576938
  REMARK    GeneRIF: Functional Analysis of the GPI Transamidase Complex by
            Screening for Amino Acid Mutations in Each Subunit.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4601)
  AUTHORS   Kawaguchi,K., Yamamoto-Hino,M., Murakami,Y., Kinoshita,T. and
            Goto,S.
  TITLE     Hrd1-dependent Degradation of the Unassembled PIGK Subunit of the
            GPI Transamidase Complex
  JOURNAL   Cell Struct Funct 46 (2), 65-71 (2021)
   PUBMED   34193731
  REMARK    GeneRIF: Hrd1-dependent Degradation of the Unassembled PIGK Subunit
            of the GPI Transamidase Complex.
REFERENCE   3  (bases 1 to 4601)
  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   4  (bases 1 to 4601)
  AUTHORS   Chen,X., Yin,W., Chen,S., Zhang,W., Li,H., Kuang,H., Zhou,M.,
            Teng,Y., Zhang,J., Shen,G., Liang,D., Li,Z., Hu,B. and Wu,L.
  TITLE     Loss of PIGK function causes severe infantile encephalopathy and
            extensive neuronal apoptosis
  JOURNAL   Hum Genet 140 (5), 791-803 (2021)
   PUBMED   33392778
  REMARK    GeneRIF: Loss of PIGK function causes severe infantile
            encephalopathy and extensive neuronal apoptosis.
REFERENCE   5  (bases 1 to 4601)
  AUTHORS   Kawaguchi,K., Yamamoto-Hino,M., Matsuyama,N., Suzuki,E. and Goto,S.
  TITLE     Subunits of the GPI transamidase complex localize to the
            endoplasmic reticulum and nuclear envelope in Drosophila
  JOURNAL   FEBS Lett 595 (7), 960-968 (2021)
   PUBMED   33496978
  REMARK    GeneRIF: Subunits of the GPI transamidase complex localize to the
            endoplasmic reticulum and nuclear envelope in Drosophila.
REFERENCE   6  (bases 1 to 4601)
  AUTHORS   Ohishi,K., Inoue,N., Maeda,Y., Takeda,J., Riezman,H. and
            Kinoshita,T.
  TITLE     Gaa1p and gpi8p are components of a glycosylphosphatidylinositol
            (GPI) transamidase that mediates attachment of GPI to proteins
  JOURNAL   Mol Biol Cell 11 (5), 1523-1533 (2000)
   PUBMED   10793132
REFERENCE   7  (bases 1 to 4601)
  AUTHORS   Meyer,U., Benghezal,M., Imhof,I. and Conzelmann,A.
  TITLE     Active site determination of Gpi8p, a caspase-related enzyme
            required for glycosylphosphatidylinositol anchor addition to
            proteins
  JOURNAL   Biochemistry 39 (12), 3461-3471 (2000)
   PUBMED   10727241
REFERENCE   8  (bases 1 to 4601)
  AUTHORS   Yu,J., Nagarajan,S., Knez,J.J., Udenfriend,S., Chen,R. and
            Medof,M.E.
  TITLE     The affected gene underlying the class K
            glycosylphosphatidylinositol (GPI) surface protein defect codes for
            the GPI transamidase
  JOURNAL   Proc Natl Acad Sci U S A 94 (23), 12580-12585 (1997)
   PUBMED   9356492
REFERENCE   9  (bases 1 to 4601)
  AUTHORS   Benghezal,M., Benachour,A., Rusconi,S., Aebi,M. and Conzelmann,A.
  TITLE     Yeast Gpi8p is essential for GPI anchor attachment onto proteins
  JOURNAL   EMBO J 15 (23), 6575-6583 (1996)
   PUBMED   8978684
REFERENCE   10 (bases 1 to 4601)
  AUTHORS   Ploug,M., Ronne,E., Behrendt,N., Jensen,A.L., Blasi,F. and Dano,K.
  TITLE     Cellular receptor for urokinase plasminogen activator.
            Carboxyl-terminal processing and membrane anchoring by
            glycosyl-phosphatidylinositol
  JOURNAL   J Biol Chem 266 (3), 1926-1933 (1991)
   PUBMED   1846368
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093433.2, AC113935.2 and
            AL035409.15.
            
            On Nov 23, 2018 this sequence version replaced NM_005482.2.
            
            Summary: This gene encodes a member of the cysteine protease family
            C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor
            biosynthesis. The GPI-anchor is a glycolipid found on many blood
            cells and serves to anchor proteins to the cell surface. This
            protein is a member of the multisubunit enzyme, GPI transamidase
            and is thought to be its enzymatic component. GPI transamidase
            mediates GPI anchoring in the endoplasmic reticulum, by catalyzing
            the transfer of fully assembled GPI units to proteins. [provided by
            RefSeq, Jul 2008].
            
            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 :: SRR1660805.9613.1,
                                           SRR1660805.144577.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370812.8/ ENSP00000359848.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-121               AC093433.2         68409-68529         c
            122-175             AC093433.2         59535-59588         c
            176-267             AC093433.2         55739-55830         c
            268-403             AC093433.2         18359-18494         c
            404-515             AC093433.2         15818-15929         c
            516-612             AC093433.2         12945-13041         c
            613-730             AC093433.2         10693-10810         c
            731-841             AC093433.2         10394-10504         c
            842-1014            AC093433.2         3548-3720           c
            1015-1099           AC113935.2         63949-64033         c
            1100-4601           AL035409.15        746-4247
FEATURES             Location/Qualifiers
     source          1..4601
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     gene            1..4601
                     /gene="PIGK"
                     /gene_synonym="GPI8; NEDHCAS"
                     /note="phosphatidylinositol glycan anchor biosynthesis
                     class K"
                     /db_xref="GeneID:10026"
                     /db_xref="HGNC:HGNC:8965"
                     /db_xref="MIM:605087"
     exon            1..121
                     /gene="PIGK"
                     /gene_synonym="GPI8; NEDHCAS"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..1216
                     /gene="PIGK"
                     /gene_synonym="GPI8; NEDHCAS"
                     /EC_number="3.-.-.-"
                     /note="GPI transamidase subunit; phosphatidylinositol
                     glycan, class K; GPI-anchor transamidase;
                     phosphatidylinositol-glycan biosynthesis class K protein;
                     PIG-K; GPI8 homolog"
                     /codon_start=1
                     /product="GPI-anchor transamidase precursor"
                     /protein_id="NP_005473.1"
                     /db_xref="CCDS:CCDS674.1"
                     /db_xref="GeneID:10026"
                     /db_xref="HGNC:HGNC:8965"
                     /db_xref="MIM:605087"
                     /translation="MAVTDSLSRAATVLATVLLLSFGSVAASHIEDQAEQFFRSGHTN
                     NWAVLVCTSRFWFNYRHVANTLSVYRSVKRLGIPDSHIVLMLADDMACNPRNPKPATV
                     FSHKNMELNVYGDDVEVDYRSYEVTVENFLRVLTGRIPPSTPRSKRLLSDDRSNILIY
                     MTGHGGNGFLKFQDSEEITNIELADAFEQMWQKRRYNELLFIIDTCQGASMYERFYSP
                     NIMALASSQVGEDSLSHQPDPAIGVHLMDRYTFYVLEFLEEINPASQTNMNDLFQVCP
                     KSLCVSTPGHRTDLFQRDPKNVLITDFFGSVRKVEITTETIKLQQDSEIMESSYKEDQ
                     MDEKLMEPLKYAEQLPVAQIIHQKPKLKDWHPPGGFILGLWALIIMVFFKTYGIKHMK
                     FIF"
     exon            122..175
                     /gene="PIGK"
                     /gene_synonym="GPI8; NEDHCAS"
                     /inference="alignment:Splign:2.1.0"
     exon            176..267
                     /gene="PIGK"
                     /gene_synonym="GPI8; NEDHCAS"
                     /inference="alignment:Splign:2.1.0"
     exon            268..403
                     /gene="PIGK"
                     /gene_synonym="GPI8; NEDHCAS"
                     /inference="alignment:Splign:2.1.0"
     exon            404..515
                     /gene="PIGK"
                     /gene_synonym="GPI8; NEDHCAS"
                     /inference="alignment:Splign:2.1.0"
     exon            516..612
                     /gene="PIGK"
                     /gene_synonym="GPI8; NEDHCAS"
                     /inference="alignment:Splign:2.1.0"
     exon            613..730
                     /gene="PIGK"
                     /gene_synonym="GPI8; NEDHCAS"
                     /inference="alignment:Splign:2.1.0"
     exon            731..841
                     /gene="PIGK"
                     /gene_synonym="GPI8; NEDHCAS"
                     /inference="alignment:Splign:2.1.0"
     exon            842..1014
                     /gene="PIGK"
                     /gene_synonym="GPI8; NEDHCAS"
                     /inference="alignment:Splign:2.1.0"
     exon            1015..1099
                     /gene="PIGK"
                     /gene_synonym="GPI8; NEDHCAS"
                     /inference="alignment:Splign:2.1.0"
     exon            1100..4601
                     /gene="PIGK"
                     /gene_synonym="GPI8; NEDHCAS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1538..1543
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIGK"
                     /gene_synonym="GPI8; NEDHCAS"
                     /note="hexamer: ATTAAA"
     polyA_site      1558
                     /gene="PIGK"
                     /gene_synonym="GPI8; NEDHCAS"
                     /note="major polyA site"
     regulatory      1871..1876
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIGK"
                     /gene_synonym="GPI8; NEDHCAS"
                     /note="hexamer: ATTAAA"
     polyA_site      1891
                     /gene="PIGK"
                     /gene_synonym="GPI8; NEDHCAS"
                     /note="major polyA site"
     regulatory      4579..4584
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIGK"
                     /gene_synonym="GPI8; NEDHCAS"
                     /note="hexamer: ATTAAA"
     polyA_site      4601
                     /gene="PIGK"
                     /gene_synonym="GPI8; NEDHCAS"
                     /note="major polyA site"
ORIGIN      
        1 aggtgcggga agtctgaagc cggtaaacat ggccgtcacc gacagcctca gccgggctgc
       61 gactgtcttg gcaactgtgt tgctcttgtc cttcggcagc gtggccgcta gtcatatcga
      121 ggatcaagca gaacaattct ttagaagtgg ccatacaaac aactgggctg ttctggtgtg
      181 tacatcccga ttctggttta attatcgaca tgttgcaaat accctttctg tttatagaag
      241 tgtcaagagg ctaggtattc ctgacagtca cattgtccta atgcttgcag atgatatggc
      301 ctgtaatcct agaaatccca aaccagctac agtgtttagt cacaagaata tggaactaaa
      361 tgtgtatgga gatgatgtgg aagtggatta tagaagttac gaggtaactg tggagaattt
      421 tttacgggta ttaactggga ggatcccacc tagtactcct cggtcaaaac gtcttctttc
      481 tgatgacaga agcaatattc taatttatat gacagggcat ggtggaaatg gtttcttaaa
      541 atttcaagat tctgaagaaa ttaccaacat agaactcgcg gatgcttttg aacaaatgtg
      601 gcagaaaaga cgctacaatg agctactgtt tattattgat acttgccaag gagcatccat
      661 gtatgaacga ttttattctc ctaacataat ggctctagct agtagtcaag tgggagaaga
      721 ttcactctcg catcaacctg atcctgcaat tggagtccat cttatggata gatacacatt
      781 ttatgtcttg gaatttttgg aagaaattaa cccagctagc caaactaata tgaatgacct
      841 ttttcaggta tgtcccaaaa gtctgtgtgt gtctactcct ggacatcgca ctgatctttt
      901 tcagagggat cctaaaaatg tactgataac tgatttcttt ggaagtgtac ggaaagtgga
      961 aattacaaca gagactatta aattgcaaca ggattcagaa atcatggaaa gcagctataa
     1021 ggaagaccag atggatgaga aactaatgga acctctgaaa tatgctgaac aacttcctgt
     1081 agctcagata atacaccaga aaccgaagct gaaagactgg catcctcctg ggggctttat
     1141 tctgggatta tgggcactta ttatcatggt tttcttcaaa acttatggaa ttaagcatat
     1201 gaagttcatt ttttagactt gatgatgaat gaagaatgca tggaggactg caaacttgga
     1261 taataattta tgtcattata tatttttaaa aatgtgtttc tcttgtatga attggaaata
     1321 agtataagga aactaaattt gaatcaacta ttaattttat aacttaaaga aaaataattg
     1381 ttaatgcaac tgcttaatgg cactaaatat attccagttt tgtattttgt gtattataaa
     1441 agcgaatgag acagagatca gaatacattg actgtttttg aaaatagtaa tttcccctta
     1501 tccccttttc atttggaaaa gaaacaattg tgaagacatt aaattctcac taacagaagt
     1561 aactttggtt aattattttt tgtatatcct cccaatcttt tgacttatgc acatattttt
     1621 tcccaatatg gagatcatat ggaatgtact attttgtaat gtcttttttc attttacaat
     1681 gtattatcaa ccttttccct ctcaaaaata cattgtgaat gactgcatag tattcacttt
     1741 atgaatattt aattcatttc acagtcttct attgttggac cacttacatt gtaccaaatg
     1801 ttttcctttg gtttattctt taatgtatta atattttact gctggtcact catggaatcc
     1861 tgcagcttta attaaaagca aagatgaaaa attggttttt taatctatgg cactgacaat
     1921 ctccaggacc ttatatgttt gttgtcagtt tatttgggaa attttagacc tttgataatt
     1981 tcacgtactg actgctcaag agaaacatac cccattgttt ttcatttgta agcgttctgt
     2041 gatcttctac aattggtcac gtcctcttca ttttccatct tgaaagagag agccaacaag
     2101 gactttattt cattctgttt taggtaaacc tccttgccca ctggctgtat ctatactttc
     2161 cttgagaaaa atcccataaa gtggatggac ctgtgaagaa aatgtatgct tatggcctag
     2221 ccttcatgtc tggctgatgt atcctataag gcagtaagcc ccttttctag tctctggtaa
     2281 gatgcaagag ctcatatccc catcactgac attttagttt ggaaataata ttgagactgt
     2341 gctatgacca acccctgatg ttgttttttc ttttcaaact tttgcatatg agtagaggaa
     2401 aagcctaaaa gttaagtatt tatgtctggg gggatacctt caggtgtctt atctgtttta
     2461 tgcaagaatt tatgtgttca tctttattca gtgcaaagat ttttttttaa attttgttta
     2521 taattgtagg taacattaag acaactcttc ctccacaaga aaacctccta aaattaatat
     2581 tccttaagat ttgtttttcc ttttgcactt ataatattac cttttaattg catgcaagat
     2641 tgtcatactt ttcaaaaggc aaaggattga ctgtgttatc tccctagtta gaacaaatga
     2701 tattgaggct ttttgccagc tctgaatctt tattttaatt gatcttttta ttgatgtgtt
     2761 atataaatga ggaagaaaaa ttttgtctga ttatgtgaag gatctttctg tacatgaaaa
     2821 gaagggaaaa taaacttgca attgaataga ctgattatag tagcactgag acacaaaaag
     2881 attgaccatg ttgccctcca gacactcata caaggtcgtg gacaccacgg tgaggcggag
     2941 ctatttaggg tggtaaagga attatgattg ttcttgagcc aaagtaattt agtttgaata
     3001 taatgaaaca taccctgtaa agactgctag aaagtaaaag gattcgtctt cagaggttgt
     3061 agaaggtgcc cttcttagtt aaaaccaaac tgggaaaagt aatactggat aaaatattca
     3121 ggataaattt tgcctcagca gaatttcaaa gggcagttgt tcctctgttt cattattgaa
     3181 tcttcagaat atagttaaag ccaaaagctt aaaatatgtt aaatgtttca cttataacca
     3241 taatcttttt acatagagca tactctgcct tcataataac taaatcctct gcatgtggta
     3301 gatgagtacg tttaggaaat attgtcagtg caattaaatg gcctacactt taaacagtat
     3361 cataaaaaca aatccttaaa tatattctac ttgagtcaca aaagctgaac aacagaaagg
     3421 tgttttgttt ttgcctttct cacagtgttg tggtgagaat cagatgagat agtattttga
     3481 ctaaacactt ctgaaattgt aaatatatgg tggcattatt gttcttatgt cggcttagga
     3541 ggataccaaa ggggaagtta atggtcacag tgcacttatg tagctttcta agctactcaa
     3601 tgtgattctt gttctctttg ctgttctttt tctcctcccc catggtgtcc ttcagagaga
     3661 aaaggaatgt agataaatga atccctgcag atgtgtcctg acatttcagg gagggacagg
     3721 gtataatgat gccatcctgc aaaggcagcc tgtgtgagaa aaagaaatca aataatgtgg
     3781 attttaaaat tacgaaagac attcatttgc agtttatgaa aggaaaatgt agtttggata
     3841 caaagctgat taaattggat caagaaatat tagaattaaa tgcaaaaaat aatccatgca
     3901 tttatggttt tgatttttat atattcccag ctagttgaaa atgatgattc ccacaagaag
     3961 cataactcag cttgtttctg cttactgagt attttctact atggtatata ttgataacat
     4021 ttcttccatt atgtatgttg tataccagag ttacagttac tgtgggaatc ataatttgaa
     4081 attttgactc ctgtgtttct ggaatcttta caacaaatgt tgcattaaca tataactttt
     4141 ttcagttgac tttaccaaaa ttaagcccat ctttagtaga tactgtttta acatgtgaaa
     4201 gaaatacgtt ataaacatac cacaagatat ggctataaaa caatgagatc agtatccatt
     4261 tttgctttaa agaattggcc ttattgcttc agtgtcacat ctcatactca agggcattta
     4321 ctacaaagaa agagttctcc aatattgctg ttctgttgct gcctgcccta tttacacatg
     4381 tacctgctac ttaaatagga aagcctttca attcatggac aatacacctt ggtggtaacc
     4441 aggcttttat ttttattttt ttttcttagt gtaaaaactg tactgttttg gaaatgtgct
     4501 gtgaaatatt aggtttaact gtgtagatcc tagaataagg ggatttatat agatgaagtt
     4561 gtaaccaaga aactggttat taaaaattta tttactccaa a
//
