LOCUS       NM_004716               4197 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7),
            mRNA.
ACCESSION   NM_004716
VERSION     NM_004716.4
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 4197)
  AUTHORS   Yang,F., Fan,X. and Yang,L.
  TITLE     Dysregulation of the LPC-ATX-LPA axis in autoimmune hepatitis is
            associated with monocyte activation
  JOURNAL   J Hepatol 80 (1), e14-e16 (2024)
   PUBMED   37392838
  REMARK    GeneRIF: Dysregulation of the LPC-ATX-LPA axis in autoimmune
            hepatitis is associated with monocyte activation.
REFERENCE   2  (bases 1 to 4197)
  AUTHORS   Eshraghian,A., Moasser,E., Azarpira,N., Fattahi,M.R.,
            Nikeghbalian,S., Malek-Hosseini,S.A. and Geramizadeh,B.
  TITLE     Variations in TM6SF2, PCSK9 and PCSK7 genes and risk of hepatic
            steatosis after liver transplantation: a cross-sectional study
  JOURNAL   BMC Gastroenterol 21 (1), 458 (2021)
   PUBMED   34876018
  REMARK    GeneRIF: Variations in TM6SF2, PCSK9 and PCSK7 genes and risk of
            hepatic steatosis after liver transplantation: a cross-sectional
            study.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4197)
  AUTHORS   Vargas-Alarcon,G., Perez-Mendez,O., Gonzalez-Pacheco,H.,
            Ramirez-Bello,J., Posadas-Sanchez,R., Escobedo,G. and Fragoso,J.M.
  TITLE     The rs508487, rs236911, and rs236918 Genetic Variants of the
            Proprotein Convertase Subtilisin-Kexin Type 7 (PCSK7) Gene Are
            Associated with Acute Coronary Syndrome and with Plasma
            Concentrations of HDL-Cholesterol and Triglycerides
  JOURNAL   Cells 10 (6), 1444 (2021)
   PUBMED   34207761
  REMARK    GeneRIF: The rs508487, rs236911, and rs236918 Genetic Variants of
            the Proprotein Convertase Subtilisin-Kexin Type 7 (PCSK7) Gene Are
            Associated with Acute Coronary Syndrome and with Plasma
            Concentrations of HDL-Cholesterol and Triglycerides.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4197)
  AUTHORS   Benincasa,G., de Candia,P., Costa,D., Faenza,M., Mansueto,G.,
            Ambrosio,G. and Napoli,C.
  TITLE     Network Medicine Approach in Prevention and Personalized Treatment
            of Dyslipidemias
  JOURNAL   Lipids 56 (3), 259-268 (2021)
   PUBMED   33118184
  REMARK    GeneRIF: Network Medicine Approach in Prevention and Personalized
            Treatment of Dyslipidemias.
            Review article
REFERENCE   5  (bases 1 to 4197)
  AUTHORS   Buch,S., Sharma,A., Ryan,E., Datz,C., Griffiths,W.J.H., Way,M.,
            Buckley,T.W.M., Ryan,J.D., Stewart,S., Wright,C., Dongiovanni,P.,
            Fracanzani,A., Zwerina,J., Merle,U., Weiss,K.H., Aigner,E.,
            Krones,E., Dejaco,C., Fischer,J., Berg,T., Valenti,L., Zoller,H.,
            McQuillin,A., Hampe,J., Stickel,F. and Morgan,M.Y.
  TITLE     Variants in PCSK7, PNPLA3 and TM6SF2 are risk factors for the
            development of cirrhosis in hereditary haemochromatosis
  JOURNAL   Aliment Pharmacol Ther 53 (7), 830-843 (2021)
   PUBMED   33565643
  REMARK    GeneRIF: Variants in PCSK7, PNPLA3 and TM6SF2 are risk factors for
            the development of cirrhosis in hereditary haemochromatosis.
REFERENCE   6  (bases 1 to 4197)
  AUTHORS   Decroly,E., Benjannet,S., Savaria,D. and Seidah,N.G.
  TITLE     Comparative functional role of PC7 and furin in the processing of
            the HIV envelope glycoprotein gp160
  JOURNAL   FEBS Lett 405 (1), 68-72 (1997)
   PUBMED   9094426
REFERENCE   7  (bases 1 to 4197)
  AUTHORS   Hallenberger,S., Moulard,M., Sordel,M., Klenk,H.D. and Garten,W.
  TITLE     The role of eukaryotic subtilisin-like endoproteases for the
            activation of human immunodeficiency virus glycoproteins in natural
            host cells
  JOURNAL   J Virol 71 (2), 1036-1045 (1997)
   PUBMED   8995623
REFERENCE   8  (bases 1 to 4197)
  AUTHORS   Bruzzaniti,A., Goodge,K., Jay,P., Taviaux,S.A., Lam,M.H., Berta,P.,
            Martin,T.J., Moseley,J.M. and Gillespie,M.T.
  TITLE     PC8 [corrected], a new member of the convertase family
  JOURNAL   Biochem J 314 (Pt 3) (Pt 3), 727-731 (1996)
   PUBMED   8615762
  REMARK    Erratum:[Biochem J 1996 Jun 15;316(Pt 3):1007]
REFERENCE   9  (bases 1 to 4197)
  AUTHORS   Meerabux,J., Yaspo,M.L., Roebroek,A.J., Van de Ven,W.J.,
            Lister,T.A. and Young,B.D.
  TITLE     A new member of the proprotein convertase gene family (LPC) is
            located at a chromosome translocation breakpoint in lymphomas
  JOURNAL   Cancer Res 56 (3), 448-451 (1996)
   PUBMED   8564950
REFERENCE   10 (bases 1 to 4197)
  AUTHORS   Seidah,N.G., Chretien,M. and Day,R.
  TITLE     The family of subtilisin/kexin like pro-protein and pro-hormone
            convertases: divergent or shared functions
  JOURNAL   Biochimie 76 (3-4), 197-209 (1994)
   PUBMED   7819324
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC010696.1, EL950661.1 and
            AP000892.4.
            
            On May 17, 2019 this sequence version replaced NM_004716.3.
            
            Summary: This gene encodes a member of the subtilisin-like
            proprotein convertase family, which includes proteases that process
            protein and peptide precursors trafficking through regulated or
            constitutive branches of the secretory pathway. It encodes a type 1
            membrane bound protease that is expressed in many tissues,
            including neuroendocrine, liver, gut, and brain. The encoded
            protein undergoes an initial autocatalytic processing event in the
            ER and then sorts to the trans-Golgi network through endosomes
            where a second autocatalytic event takes place and the catalytic
            activity is acquired. This gene encodes one of the seven basic
            amino acid-specific members which cleave their substrates at single
            or paired basic residues. It can process proalbumin and is thought
            to be responsible for the activation of HIV envelope glycoproteins
            gp160 and gp140. This gene has been implicated in the
            transcriptional regulation of housekeeping genes and plays a role
            in the regulation of iron metabolism. A t(11;14)(q23;q32)
            chromosome translocation associated with B-cell lymphoma occurs
            between this gene and its inverted counterpart. [provided by
            RefSeq, Feb 2014].
            
            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 :: BC010696.1, SRR1660807.211522.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320934.8/ ENSP00000325917.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3462              BC010696.1         23-3484
            3463-3463           EL950661.1         436-436
            3464-4197           AP000892.4         2820-3553           c
FEATURES             Location/Qualifiers
     source          1..4197
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..4197
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /note="proprotein convertase subtilisin/kexin type 7"
                     /db_xref="GeneID:9159"
                     /db_xref="HGNC:HGNC:8748"
                     /db_xref="MIM:604872"
     exon            1..47
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /inference="alignment:Splign:2.1.0"
     exon            48..167
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /inference="alignment:Splign:2.1.0"
     exon            168..647
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /inference="alignment:Splign:2.1.0"
     CDS             180..2537
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /EC_number="3.4.21.-"
                     /note="lymphoma proprotein convertase;
                     subtilisin/kexin-like protease PC7; prohormone convertase
                     PC7; proprotein convertase PC7; prohormone convertase 7;
                     proprotein convertase 7; proprotein convertase 8"
                     /codon_start=1
                     /product="proprotein convertase subtilisin/kexin type 7
                     preproprotein"
                     /protein_id="NP_004707.2"
                     /db_xref="CCDS:CCDS8382.1"
                     /db_xref="GeneID:9159"
                     /db_xref="HGNC:HGNC:8748"
                     /db_xref="MIM:604872"
                     /translation="MPKGRQKVPHLDAPLGLPTCLWLELAGLFLLVPWVMGLAGTGGP
                     DGQGTGGPSWAVHLESLEGDGEEETLEQQADALAQAAGLVNAGRIGELQGHYLFVQPA
                     GHRPALEVEAIRQQVEAVLAGHEAVRWHSEQRLLRRAKRSVHFNDPKYPQQWHLNNRR
                     SPGRDINVTGVWERNVTGRGVTVVVVDDGVEHTIQDIAPNYSPEGSYDLNSNDPDPMP
                     HPDVENGNHHGTRCAGEIAAVPNNSFCAVGVAYGSRIAGIRVLDGPLTDSMEAVAFNK
                     HYQINDIYSCSWGPDDDGKTVDGPHQLGKAALQHGVIAGRQGFGSIFVVASGNGGQHN
                     DNCNYDGYANSIYTVTIGAVDEEGRMPFYAEECASMLAVTFSGGDKMLRSIVTTDWDL
                     QKGTGCTEGHTGTSAAAPLAAGMIALMLQVRPCLTWRDVQHIIVFTATRYEDRRAEWV
                     TNEAGFSHSHQHGFGLLNAWRLVNAAKIWTSVPYLASYVSPVLKENKAIPQSPRSLEV
                     LWNVSRMDLEMSGLKTLEHVAVTVSITHPRRGSLELKLFCPSGMMSLIGAPRSMDSDP
                     NGFNDWTFSTVRCWGERARGTYRLVIRDVGDESFQVGILRQWQLTLYGSVWSAVDIRD
                     RQRLLESAMSGKYLHDDFALPCPPGLKIPEEDGYTITPNTLKTLVLVGCFTVFWTVYY
                     MLEVYLSQRNVASNQVCRSGPCHWPHRSRKAKEEGTELESVPLCSSKDPDEVETESRG
                     PPTTSDLLAPDLLEQGDWSLSQNKSALDCPHQHLDVPHGKEEQIC"
     exon            648..782
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /inference="alignment:Splign:2.1.0"
     exon            783..948
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /inference="alignment:Splign:2.1.0"
     exon            949..1039
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /inference="alignment:Splign:2.1.0"
     exon            1040..1094
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /inference="alignment:Splign:2.1.0"
     exon            1095..1233
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /inference="alignment:Splign:2.1.0"
     exon            1234..1334
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /inference="alignment:Splign:2.1.0"
     exon            1335..1502
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /inference="alignment:Splign:2.1.0"
     exon            1503..1610
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /inference="alignment:Splign:2.1.0"
     exon            1611..1713
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /inference="alignment:Splign:2.1.0"
     exon            1714..1870
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /inference="alignment:Splign:2.1.0"
     exon            1871..1965
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /inference="alignment:Splign:2.1.0"
     exon            1966..2059
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /inference="alignment:Splign:2.1.0"
     exon            2060..2177
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /inference="alignment:Splign:2.1.0"
     exon            2178..4197
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3443..3448
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /note="hexamer: AATAAA"
     polyA_site      3462
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /note="major polyA site"
     polyA_site      3804
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
ORIGIN      
        1 aagccgcgag tttccgcagg gaggcggcgg cagctgcggc ggggccggtc tgtagccttt
       61 gctgagtcaa cactactcac agtgaaagtg atgccttttc tccatttgca caacatgagt
      121 gtgacgtggt tagccagacc aggagctcaa cctcatgtag aatccagtcc actgctctga
      181 tgccgaaggg gaggcagaaa gtgccacact tggatgcccc cctgggcctg cccacctgcc
      241 tctggctgga attagccggg ctcttcttac tggttccctg ggtcatgggc ctggcaggga
      301 caggtgggcc tgatggccag ggcacagggg ggccgagctg ggctgtgcac ctggaaagcc
      361 tggaaggtga cggggaggaa gagactctgg agcagcaggc ggatgccttg gcccaggcag
      421 cagggctggt gaatgctgga cgcatcggag agcttcaggg gcactacctc tttgtccagc
      481 ctgctgggca caggccggcc ctggaggtgg aggccatccg gcagcaggtg gaggctgtgt
      541 tggctgggca tgaagctgtg cgctggcact cagagcagag gctgctaagg cgggccaagc
      601 gcagcgtcca cttcaacgac cccaagtacc cgcagcaatg gcacctgaat aaccgacgga
      661 gcccgggcag ggacatcaac gtgacgggtg tgtgggaacg caatgtgact gggcgagggg
      721 tgacggtggt ggtagtggat gacggagtgg aacacaccat ccaggacatt gcacccaact
      781 atagccctga gggtagctat gacctcaact ctaatgaccc tgaccccatg ccccacccgg
      841 atgtggagaa tggcaaccac catggcacgc gatgtgcagg agagatcgcg gctgtgccca
      901 acaacagctt ctgtgccgtg ggcgtggcct acgggagccg catcgcaggt atccgggtac
      961 tggatggacc tctcacagac agcatggagg cagtggcgtt caacaagcac tatcagatca
     1021 atgacatcta cagctgcagc tggggaccag atgacgatgg gaagacagtg gatggccccc
     1081 atcagcttgg aaaggctgcc ttacaacatg gggtgattgc tggtcgccag ggctttggga
     1141 gcatctttgt ggtagccagt ggcaacggag gccaacacaa cgacaactgc aactacgatg
     1201 gctacgccaa ctccatctac accgtcacca taggagctgt ggatgaggag ggacgcatgc
     1261 ctttctatgc agaagaatgt gcctccatgc tggcagtcac cttcagtggt ggggacaaga
     1321 tgcttcggag cattgtgacc actgactggg accttcagaa gggcactggc tgcactgagg
     1381 gccacacagg gacctcagct gcagcgcctc tggcagctgg catgatagcc ttaatgctgc
     1441 aggtgcggcc ctgcctcacg tggcgtgacg tccagcacat cattgtcttc acagccaccc
     1501 ggtatgagga tcgccgtgca gagtgggtca ccaacgaggc aggcttcagc catagccacc
     1561 agcacggttt cggcctcctc aacgcctgga ggctcgtgaa tgcagccaag atctggacat
     1621 ctgtccctta cttagcatcc tacgtcagtc ccgtgttaaa agaaaacaag gcgattccgc
     1681 agtccccccg ttccctggag gtcctgtgga atgtcagcag gatggacctg gagatgtcag
     1741 ggctgaagac cctggagcat gtggcagtga cagtctccat cactcaccca cggcgcggca
     1801 gcttggagct gaagctgttc tgccccagtg gcatgatgtc cctcatcggc gccccccgca
     1861 gcatggactc ggatcccaac ggcttcaatg actggacctt ctccactgtg cgatgctggg
     1921 gggagagagc ccgagggacc tacaggcttg tcatcaggga tgtcggggat gagtcattcc
     1981 aggtcggcat cctccggcaa tggcagctga ccctatatgg ctctgtgtgg agtgcagtag
     2041 acatcaggga cagacaaagg ctgttagaga gtgccatgag tggaaaatac ctgcacgatg
     2101 acttcgccct gccctgccca ccggggctga aaattcctga ggaagatggt tacaccatca
     2161 cccccaacac cctcaagacc ctggtgctgg taggctgttt caccgtcttc tggactgttt
     2221 actacatgct ggaagtatat ttgagccaga ggaatgtggc ttccaatcaa gtttgtagga
     2281 gtggaccctg ccactggccc catcggagcc ggaaagccaa ggaggaaggg acagagctag
     2341 aatcagtgcc actttgcagc agcaaggatc cagacgaagt ggaaacagag agcaggggcc
     2401 ctcccaccac ctctgacctc cttgccccag acctgctgga gcaaggggac tggagcctgt
     2461 cccagaacaa gagcgccctg gactgccctc atcagcacct agacgtaccg cacgggaagg
     2521 aggagcagat ctgctgacct cagggcctga cagtgtggga caggctcttc tttcccaaaa
     2581 ttagggagct cttgacagaa agcagttctg atgcttacat ctggaatctg aggcatcctc
     2641 tgactccact caaagagggt gagggccttc ttaagataca aatggtggag gattgctgcc
     2701 agagaagtct ggtcagagcc acagggtctg cctccagcca aacgggagct tttggtgaga
     2761 aggtgttgga caggggattg gcgcccccct ttggtttggc ctccatcctc atctctcttg
     2821 ggccaagcca gctgcctagg tcccccaagc atgggggacc ccttcccaca tataagttga
     2881 gaaggtgcct gccatagcca ggagcgcatc tcaatggaaa catcactggg gtcacttggg
     2941 aagaggactt cggggtagag gctgggagga gcccctggac atgcctgtcc tgaaagcggc
     3001 tgcctccatt atccattccc aagatgcctg atcagaaacc aaccatgaat gaacccctgg
     3061 ctccttcacc acccccacga ttggtatgat gctgccggca cagctgggat acacacggct
     3121 cccccaggcc tgagctgctt cactagggaa tcctgcggca ggactgcaga gcagatggca
     3181 gatgcacatg ttggaggaga gagccttggg agccactgcc actccagtcc tgccaccacc
     3241 ctgtcttcct ctgcaagtgc tcagggaaat ggccttcccg ccggaggcca gctatctgcc
     3301 tgacaggctg tgactcttct ctcaaccttg gccttctccc ctcttctgag ctagttggtt
     3361 gaattttttt taatgcttaa gatttgtttt tctcttttca cagcaacatt ttcttgaatt
     3421 tttttctgca cagcttttcc aaaataaaaa ccttccaaac aattctgcca ctcgcaatct
     3481 ctcctttcct ctgtctcccc aaagccactg catgctgctg agtggctcct ttttcccttc
     3541 ggtccccaag attcactctc ctgttctatg gcctgtttcc tctgaaagaa tctgactgtc
     3601 ctggaatctt ggcacatgaa gggtccttca gaggacggca gccaggaaca catacaagcc
     3661 cgagatgcct gcctgtcccc tgcgcagatc tgaaaccata acaaaagtga ccagggcaaa
     3721 tcaaactctg ccagccaggc ctgagaaaag attgattttt tttttttttt tttgagttcc
     3781 aaccccaaaa atattccagg acaagatagg gggcaggctg ggctggttct tcttcaatgg
     3841 gcttttgccg ccaaggagga cagtggactt ggcccacatc caggctaccc ccagcccgct
     3901 tctcccctgc ttagcccagg gaggagacag tagaggtgat gggggcagcc gggagggagg
     3961 ggccaaggca gtgatgcttt cgggtaagaa gttgggctga ggctgggggc acagggagga
     4021 gctgcccagg tgcagttacc attgctcagt gacagagcct caaagcttgg ccagggctga
     4081 aggtaccaca cgggtgtggg tgaggcaggc taagcgggat ggctgcagcc aaggagctgg
     4141 gggagggccg ggctcagggc tagccctctc cgctctaact gatgatctgc cgaggtc
//
