LOCUS       NM_013271               1025 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens proprotein convertase subtilisin/kexin type 1
            inhibitor (PCSK1N), mRNA.
ACCESSION   NM_013271
VERSION     NM_013271.5
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 1025)
  AUTHORS   Jarvela,T.S., Lam,H.A., Helwig,M., Lorenzen,N., Otzen,D.E.,
            McLean,P.J., Maidment,N.T. and Lindberg,I.
  TITLE     The neural chaperone proSAAS blocks alpha-synuclein fibrillation
            and neurotoxicity
  JOURNAL   Proc Natl Acad Sci U S A 113 (32), E4708-E4715 (2016)
   PUBMED   27457957
  REMARK    GeneRIF: neuronal proSAAS plays an important role in proteostatic
            processes.
REFERENCE   2  (bases 1 to 1025)
  AUTHORS   Parikh,M., Hetherington,J., Sheth,S., Seiler,J., Ostrer,H.,
            Gerhard,G., Wood,C. and Still,C.
  TITLE     Frequencies of obesity susceptibility alleles among ethnically and
            racially diverse bariatric patient populations
  JOURNAL   Surg Obes Relat Dis 9 (3), 436-441 (2013)
   PUBMED   22695173
  REMARK    GeneRIF: Results show significant differences in distribution of
            single nucleotide polymorphism in this gene amongst whites and
            hispanics
REFERENCE   3  (bases 1 to 1025)
  AUTHORS   Pickett,L.A., Yourshaw,M., Albornoz,V., Chen,Z.,
            Solorzano-Vargas,R.S., Nelson,S.F., Martin,M.G. and Lindberg,I.
  TITLE     Functional consequences of a novel variant of PCSK1
  JOURNAL   PLoS One 8 (1), e55065 (2013)
   PUBMED   23383060
REFERENCE   4  (bases 1 to 1025)
  AUTHORS   Liu,T., Zhao,Y., Tang,N., Feng,R., Yang,X., Lu,N., Wen,J. and Li,L.
  TITLE     Pax6 directly down-regulates Pcsk1n expression thereby regulating
            PC1/3 dependent proinsulin processing
  JOURNAL   PLoS One 7 (10), e46934 (2012)
   PUBMED   23056534
REFERENCE   5  (bases 1 to 1025)
  AUTHORS   Jahn,H., Wittke,S., Zurbig,P., Raedler,T.J., Arlt,S., Kellmann,M.,
            Mullen,W., Eichenlaub,M., Mischak,H. and Wiedemann,K.
  TITLE     Peptide fingerprinting of Alzheimer's disease in cerebrospinal
            fluid: identification and prospective evaluation of new synaptic
            biomarkers
  JOURNAL   PLoS One 6 (10), e26540 (2011)
   PUBMED   22046305
REFERENCE   6  (bases 1 to 1025)
  AUTHORS   Gupta,N., Bark,S.J., Lu,W.D., Taupenot,L., O'Connor,D.T.,
            Pevzner,P. and Hook,V.
  TITLE     Mass spectrometry-based neuropeptidomics of secretory vesicles from
            human adrenal medullary pheochromocytoma reveals novel peptide
            products of prohormone processing
  JOURNAL   J Proteome Res 9 (10), 5065-5075 (2010)
   PUBMED   20704348
REFERENCE   7  (bases 1 to 1025)
  AUTHORS   Kikuchi,K., Arawaka,S., Koyama,S., Kimura,H., Ren,C.H., Wada,M.,
            Kawanami,T., Kurita,K., Daimon,M., Kawakatsu,S., Kadoya,T., Goto,K.
            and Kato,T.
  TITLE     An N-terminal fragment of ProSAAS (a granin-like neuroendocrine
            peptide precursor) is associated with tau inclusions in Pick's
            disease
  JOURNAL   Biochem Biophys Res Commun 308 (3), 646-654 (2003)
   PUBMED   12914799
REFERENCE   8  (bases 1 to 1025)
  AUTHORS   Fortenberry,Y., Hwang,J.R., Apletalina,E.V. and Lindberg,I.
  TITLE     Functional characterization of ProSAAS: similarities and
            differences with 7B2
  JOURNAL   J Biol Chem 277 (7), 5175-5186 (2002)
   PUBMED   11719503
  REMARK    GeneRIF: although both proSAAS and 7B2 potently inhibit PC enzymes
            via a C-terminal peptide, their intracellular interactions with PCs
            appear to differ significantly, with each binding protein
            exhibiting unique properties
REFERENCE   9  (bases 1 to 1025)
  AUTHORS   Basak,A., Koch,P., Dupelle,M., Fricker,L.D., Devi,L.A., Chretien,M.
            and Seidah,N.G.
  TITLE     Inhibitory specificity and potency of proSAAS-derived peptides
            toward proprotein convertase 1
  JOURNAL   J Biol Chem 276 (35), 32720-32728 (2001)
   PUBMED   11435430
REFERENCE   10 (bases 1 to 1025)
  AUTHORS   Fricker,L.D., McKinzie,A.A., Sun,J., Curran,E., Qian,Y., Yan,L.,
            Patterson,S.D., Courchesne,P.L., Richards,B., Levin,N., Mzhavia,N.,
            Devi,L.A. and Douglass,J.
  TITLE     Identification and characterization of proSAAS, a granin-like
            neuroendocrine peptide precursor that inhibits prohormone
            processing
  JOURNAL   J Neurosci 20 (2), 639-648 (2000)
   PUBMED   10632593
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX459856.2 and BC002851.2.
            
            On Nov 22, 2018 this sequence version replaced NM_013271.4.
            
            Summary: The protein encoded by this gene functions as an inhibitor
            of prohormone convertase 1, which regulates the proteolytic
            cleavage of neuroendocrine peptide precursors. The proprotein is
            further processed into multiple short peptides. A polymorphism
            within this gene may be associated with obesity. [provided by
            RefSeq, Aug 2013].
            
            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 :: BC094731.1, BX459856.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000218230.6/ ENSP00000218230.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-58                BX459856.2         28-85
            59-1025             BC002851.2         1-967
FEATURES             Location/Qualifiers
     source          1..1025
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..1025
                     /gene="PCSK1N"
                     /gene_synonym="BigLEN; PEN; PROSAAS; SAAS; SCG8; SgVIII"
                     /note="proprotein convertase subtilisin/kexin type 1
                     inhibitor"
                     /db_xref="GeneID:27344"
                     /db_xref="HGNC:HGNC:17301"
                     /db_xref="MIM:300399"
     exon            1..192
                     /gene="PCSK1N"
                     /gene_synonym="BigLEN; PEN; PROSAAS; SAAS; SCG8; SgVIII"
                     /inference="alignment:Splign:2.1.0"
     exon            193..665
                     /gene="PCSK1N"
                     /gene_synonym="BigLEN; PEN; PROSAAS; SAAS; SCG8; SgVIII"
                     /inference="alignment:Splign:2.1.0"
     exon            666..1025
                     /gene="PCSK1N"
                     /gene_synonym="BigLEN; PEN; PROSAAS; SAAS; SCG8; SgVIII"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1006..1011
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCSK1N"
                     /gene_synonym="BigLEN; PEN; PROSAAS; SAAS; SCG8; SgVIII"
                     /note="hexamer: AATAAA"
     polyA_site      1025
                     /gene="PCSK1N"
                     /gene_synonym="BigLEN; PEN; PROSAAS; SAAS; SCG8; SgVIII"
                     /note="major polyA site"
ORIGIN      
        1 gcagcctcgc cagctcgccc cggcactgcg cacttgccag ccagtccgcc cgtccggagc
       61 ccggctcgct ggggcagcat ggcggggtcg ccgctgctct gggggccgcg ggccgggggc
      121 gtcggccttt tggtgctgct gctgctcggc ctgtttcggc cgccccccgc gctctgcgcg
      181 cggccggtaa aggagccccg cggcctaagc gcagcgtctc cgcccttggc tgagactggc
      241 gctcctcgcc gcttccggcg gtcagtgccc cgaggtgagg cggcgggggc ggtgcaggag
      301 ctggcgcggg cgctggcgca tctgctggag gccgaacgtc aggagcgggc gcgggccgag
      361 gcgcaggagg ctgaggatca gcaggcgcgc gtcctggcgc agctgctgcg cgtctggggc
      421 gccccccgca actctgatcc ggctctgggc ctggacgacg accccgacgc gcctgcagcg
      481 cagctcgctc gcgctctgct ccgcgcccgc cttgaccctg ccgccctagc agcccagctt
      541 gtccccgcgc ccgtccccgc cgcggcgctc cgaccccggc ccccggtcta cgacgacggc
      601 cccgcgggcc cggatgctga ggaggcaggc gacgagacac ccgacgtgga ccccgagctg
      661 ttgaggtact tgctgggacg gattcttgcg ggaagcgcgg actccgaggg ggtggcagcc
      721 ccgcgccgcc tccgccgtgc cgccgaccac gatgtgggct ctgagctgcc ccctgagggc
      781 gtgctggggg cgctgctgcg tgtgaaacgc ctagagaccc cggcgcccca ggtgcctgca
      841 cgccgcctct tgccaccctg agcactgccc ggatcccgtg caccctggga cccagaagtg
      901 cccccgccat cccgccacca ggactgctcc ccgccagcac gtccagagca acttaccccg
      961 gccagccagc cctctcaccc gaggatccct accccctggc cccacaataa acatgatctg
     1021 aagca
//
