LOCUS       NM_012413               1683 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens glutaminyl-peptide cyclotransferase (QPCT), mRNA.
ACCESSION   NM_012413
VERSION     NM_012413.4
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 1683)
  AUTHORS   Liu,L., Liu,H., Liu,L., Huang,Q., Yang,C., Cheng,P., Ren,S.,
            Zhang,J., Yu,M., Ma,X., Song,W., Chen,L., Zhang,H., Chen,M. and
            Zhang,X.
  TITLE     Apicidin confers promising therapeutic effect on acute myeloid
            leukemia cells via increasing QPCT expression
  JOURNAL   Cancer Biol Ther 24 (1), 2228497 (2023)
   PUBMED   37381175
  REMARK    GeneRIF: Apicidin confers promising therapeutic effect on acute
            myeloid leukemia cells via increasing QPCT expression.
REFERENCE   2  (bases 1 to 1683)
  AUTHORS   Liang,T., Wu,X., Wang,L., Ni,Z., Fan,Y., Wu,P., Wang,H., Niu,Y. and
            Huang,H.
  TITLE     Clinical significance and diagnostic value of QPCT, SCEL and
            TNFRSF12A in papillary thyroid cancer
  JOURNAL   Pathol Res Pract 245, 154431 (2023)
   PUBMED   37060824
  REMARK    GeneRIF: Clinical significance and diagnostic value of QPCT, SCEL
            and TNFRSF12A in papillary thyroid cancer.
REFERENCE   3  (bases 1 to 1683)
  AUTHORS   Hartlage-Rubsamen,M., Bluhm,A., Moceri,S., Machner,L., Koppen,J.,
            Schenk,M., Hilbrich,I., Holzer,M., Weidenfeller,M., Richter,F.,
            Coras,R., Serrano,G.E., Beach,T.G., Schilling,S., von Horsten,S.,
            Xiang,W., Schulze,A. and Rossner,S.
  TITLE     A glutaminyl cyclase-catalyzed alpha-synuclein modification
            identified in human synucleinopathies
  JOURNAL   Acta Neuropathol 142 (3), 399-421 (2021)
   PUBMED   34309760
  REMARK    GeneRIF: A glutaminyl cyclase-catalyzed alpha-synuclein
            modification identified in human synucleinopathies.
REFERENCE   4  (bases 1 to 1683)
  AUTHORS   Zhao,T., Zhou,Y., Wang,Q., Yi,X., Ge,S., He,H., Xue,S., Du,B.,
            Ge,J., Dong,J., Qu,L., Wang,L. and Zhou,W.
  TITLE     QPCT regulation by CTCF leads to sunitinib resistance in renal cell
            carcinoma by promoting angiogenesis
  JOURNAL   Int J Oncol 59 (1) (2021)
   PUBMED   34036385
  REMARK    GeneRIF: QPCT regulation by CTCF leads to sunitinib resistance in
            renal cell carcinoma by promoting angiogenesis.
REFERENCE   5  (bases 1 to 1683)
  AUTHORS   Huang,K.F., Huang,J.S., Wu,M.L., Hsieh,W.L., Hsu,K.C., Hsu,H.L.,
            Ko,T.P. and Wang,A.H.
  TITLE     A Unique Carboxylic-Acid Hydrogen-Bond Network (CAHBN) Confers
            Glutaminyl Cyclase Activity on M28 Family Enzymes
  JOURNAL   J Mol Biol 433 (13), 166960 (2021)
   PUBMED   33774034
  REMARK    GeneRIF: A Unique Carboxylic-Acid Hydrogen-Bond Network (CAHBN)
            Confers Glutaminyl Cyclase Activity on M28 Family Enzymes.
REFERENCE   6  (bases 1 to 1683)
  AUTHORS   Schilling,S., Niestroj,A.J., Rahfeld,J.U., Hoffmann,T., Wermann,M.,
            Zunkel,K., Wasternack,C. and Demuth,H.U.
  TITLE     Identification of human glutaminyl cyclase as a metalloenzyme.
            Potent inhibition by imidazole derivatives and heterocyclic
            chelators
  JOURNAL   J Biol Chem 278 (50), 49773-49779 (2003)
   PUBMED   14522962
  REMARK    GeneRIF: human glutaminyl cyclase is a metal-dependent transferase
REFERENCE   7  (bases 1 to 1683)
  AUTHORS   Schilling,S., Hoffmann,T., Rosche,F., Manhart,S., Wasternack,C. and
            Demuth,H.U.
  TITLE     Heterologous expression and characterization of human glutaminyl
            cyclase: evidence for a disulfide bond with importance for
            catalytic activity
  JOURNAL   Biochemistry 41 (35), 10849-10857 (2002)
   PUBMED   12196024
  REMARK    GeneRIF: Functional expression of human glutaminyl cyclase in
            Pichia pastoris reveals the presence of a disulfide bond with an
            important role in the stabilization of active protein structure.
REFERENCE   8  (bases 1 to 1683)
  AUTHORS   Bateman,R.C. Jr., Temple,J.S., Misquitta,S.A. and Booth,R.E.
  TITLE     Evidence for essential histidines in human pituitary glutaminyl
            cyclase
  JOURNAL   Biochemistry 40 (37), 11246-11250 (2001)
   PUBMED   11551224
REFERENCE   9  (bases 1 to 1683)
  AUTHORS   Song,I., Chuang,C.Z. and Bateman,R.C. Jr.
  TITLE     Molecular cloning, sequence analysis and expression of human
            pituitary glutaminyl cyclase
  JOURNAL   J Mol Endocrinol 13 (1), 77-86 (1994)
   PUBMED   7999256
REFERENCE   10 (bases 1 to 1683)
  AUTHORS   Busby,W.H. Jr., Quackenbush,G.E., Humm,J., Youngblood,W.W. and
            Kizer,J.S.
  TITLE     An enzyme(s) that converts glutaminyl-peptides into
            pyroglutamyl-peptides. Presence in pituitary, brain, adrenal
            medulla, and lymphocytes
  JOURNAL   J Biol Chem 262 (18), 8532-8536 (1987)
   PUBMED   3597387
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI755122.1, BC020456.1,
            BC047756.2 and BF970452.1.
            
            On Nov 23, 2018 this sequence version replaced NM_012413.3.
            
            Summary: This gene encodes human pituitary glutaminyl cyclase,
            which is responsible for the presence of pyroglutamyl residues in
            many neuroendocrine peptides. The amino acid sequence of this
            enzyme is 86% identical to that of bovine glutaminyl cyclase.
            [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 :: SRR3476690.427860.1,
                                           SRR1660807.17286.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000338415.8/ ENSP00000344829.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-79                BI755122.1         57-135
            80-1025             BC020456.1         1-946
            1026-1192           BC047756.2         1023-1189
            1193-1509           BC020456.1         1114-1430
            1510-1683           BF970452.1         305-478
FEATURES             Location/Qualifiers
     source          1..1683
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p22.2"
     gene            1..1683
                     /gene="QPCT"
                     /gene_synonym="GCT; QC; sQC"
                     /note="glutaminyl-peptide cyclotransferase"
                     /db_xref="GeneID:25797"
                     /db_xref="HGNC:HGNC:9753"
                     /db_xref="MIM:607065"
     exon            1..222
                     /gene="QPCT"
                     /gene_synonym="GCT; QC; sQC"
                     /inference="alignment:Splign:2.1.0"
     CDS             103..1188
                     /gene="QPCT"
                     /gene_synonym="GCT; QC; sQC"
                     /EC_number="2.3.2.5"
                     /note="glutaminyl cyclase; EC; glutamyl cyclase;
                     glutaminyl-tRNA cyclotransferase"
                     /codon_start=1
                     /product="glutaminyl-peptide cyclotransferase precursor"
                     /protein_id="NP_036545.1"
                     /db_xref="CCDS:CCDS1790.1"
                     /db_xref="GeneID:25797"
                     /db_xref="HGNC:HGNC:9753"
                     /db_xref="MIM:607065"
                     /translation="MAGGRHRRVVGTLHLLLLVAALPWASRGVSPSASAWPEEKNYHQ
                     PAILNSSALRQIAEGTSISEMWQNDLQPLLIERYPGSPGSYAARQHIMQRIQRLQADW
                     VLEIDTFLSQTPYGYRSFSNIISTLNPTAKRHLVLACHYDSKYFSHWNNRVFVGATDS
                     AVPCAMMLELARALDKKLLSLKTVSDSKPDLSLQLIFFDGEEAFLHWSPQDSLYGSRH
                     LAAKMASTPHPPGARGTSQLHGMDLLVLLDLIGAPNPTFPNFFPNSARWFERLQAIEH
                     ELHELGLLKDHSLEGRYFQNYSYGGVIQDDHIPFLRRGVPVLHLIPSPFPEVWHTMDD
                     NEENLDESTIDNLNKILQVFVLEYLHL"
     exon            223..369
                     /gene="QPCT"
                     /gene_synonym="GCT; QC; sQC"
                     /inference="alignment:Splign:2.1.0"
     exon            370..648
                     /gene="QPCT"
                     /gene_synonym="GCT; QC; sQC"
                     /inference="alignment:Splign:2.1.0"
     exon            649..825
                     /gene="QPCT"
                     /gene_synonym="GCT; QC; sQC"
                     /inference="alignment:Splign:2.1.0"
     exon            826..925
                     /gene="QPCT"
                     /gene_synonym="GCT; QC; sQC"
                     /inference="alignment:Splign:2.1.0"
     exon            926..1042
                     /gene="QPCT"
                     /gene_synonym="GCT; QC; sQC"
                     /inference="alignment:Splign:2.1.0"
     exon            1043..1683
                     /gene="QPCT"
                     /gene_synonym="GCT; QC; sQC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1661..1666
                     /regulatory_class="polyA_signal_sequence"
                     /gene="QPCT"
                     /gene_synonym="GCT; QC; sQC"
                     /note="hexamer: ATTAAA"
     polyA_site      1683
                     /gene="QPCT"
                     /gene_synonym="GCT; QC; sQC"
                     /note="major polyA site"
ORIGIN      
        1 agtcgaccca agggtggaga agagggaagg cgaaggacgc gcgttcccgg gctcgtgacc
       61 gccagcggcc cggggaaccc gctcccagac agactcggag agatggcagg cggaagacac
      121 cggcgcgtcg tgggcaccct ccacctgctg ctgctggtgg ccgccctgcc ctgggcatcc
      181 aggggggtca gtccgagtgc ctcagcctgg ccagaggaga agaattacca ccagccagcc
      241 attttgaatt catcggctct tcggcaaatt gcagaaggca ccagtatctc tgaaatgtgg
      301 caaaatgact tacagccatt gctgatagag cgatacccgg gatcccctgg aagctatgct
      361 gctcgtcagc acatcatgca gcgaattcag aggcttcagg ctgactgggt cttggaaata
      421 gacaccttct tgagtcagac accctatggg taccggtctt tctcaaatat catcagcacc
      481 ctcaatccca ctgctaaacg acatttggtc ctcgcctgcc actatgactc caagtatttt
      541 tcccactgga acaacagagt gtttgtagga gccactgatt cagccgtgcc atgtgcaatg
      601 atgttggaac ttgctcgtgc cttagacaag aaactccttt ccttaaagac tgtttcagac
      661 tccaagccag atttgtcact ccagctgatc ttctttgatg gtgaagaggc ttttcttcac
      721 tggtctcctc aagattctct ctatgggtct cgacacttag ctgcaaagat ggcatcgacc
      781 ccgcacccac ctggagcgag aggcaccagc caactgcatg gcatggattt attggtctta
      841 ttggatttga ttggagctcc aaacccaacg tttcccaatt tttttccaaa ctcagccagg
      901 tggttcgaaa gacttcaagc aattgaacat gaacttcatg aattgggttt gctcaaggat
      961 cactctttgg aggggcggta tttccagaat tacagttatg gaggtgtgat tcaggatgac
     1021 catattccat ttttaagaag aggtgttcca gttctgcatc tgataccgtc tcctttccct
     1081 gaagtctggc acaccatgga tgacaatgaa gaaaatttgg atgaatcaac cattgacaat
     1141 ctaaacaaaa tcctacaagt ctttgtgttg gaatatcttc atttgtaata ctctgattta
     1201 gtttaggata attggttcta gaattgaatt caaaagtcaa ggcatcattt aaaataatct
     1261 gatttcagac aaatgctgtg tggaaacatc tatcctatag atcatcctat tcttatgtgt
     1321 ctttggttat cagatcaatt acagaataat tgtgttgtga tattgtgtcc taaattgctc
     1381 attaattttt atttacagat tgaaaaagag ggaccgtgta aagaaaatgg aaaataaata
     1441 tctttcaaag actcttttag ataaacacga tgaggcaaaa tcaggttcat tcattcaacg
     1501 atagtttctc aacagtactt aaatagcggt tggaaaacgt agccttcatt ttatgatttt
     1561 ttcatatgtg gaaatctatt acatgtaata caaaacaaac atgtagtttg aaggcggtca
     1621 gatttctttg agaaatcttt gtagagttaa ttttatggaa attaaaatca gaattaaatg
     1681 cta
//
