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    PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor [ Homo sapiens (human) ]

    Gene ID: 27344, updated on 17-Jun-2024

    Summary

    Official Symbol
    PCSK1Nprovided by HGNC
    Official Full Name
    proprotein convertase subtilisin/kexin type 1 inhibitorprovided by HGNC
    Primary source
    HGNC:HGNC:17301
    See related
    Ensembl:ENSG00000102109 MIM:300399; AllianceGenome:HGNC:17301
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PEN; SAAS; SCG8; BigLEN; SgVIII; PROSAAS
    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]
    Expression
    Biased expression in kidney (RPKM 101.8), brain (RPKM 31.9) and 2 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PCSK1N in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48831096..48835610, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48241591..48246097, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48689506..48694012, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:48659902-48660415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29613 Neighboring gene histone deacetylase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20823 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:48689342-48689842 Neighboring gene ES cell expressed Ras Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:48726714-48727913 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29614 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29617 Neighboring gene translocase of inner mitochondrial membrane 17B Neighboring gene polyglutamine binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29618 Neighboring gene solute carrier family 35 member A2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables serine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables signaling receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in neuropeptide signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peptide hormone processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to cold IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to dietary excess IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in secretory granule IEA
    Inferred from Electronic Annotation
    more info
     
    located_in trans-Golgi network IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    proSAAS
    Names
    granin-like neuroendocrine peptide
    pro-SAAS
    proprotein convertase 1 inhibitor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_013271.5NP_037403.1  proSAAS preproprotein

      See identical proteins and their annotated locations for NP_037403.1

      Status: REVIEWED

      Source sequence(s)
      BC002851, BX459856
      Consensus CDS
      CCDS14307.1
      UniProtKB/Swiss-Prot
      Q4VC04, Q9UHG2
      Related
      ENSP00000218230.5, ENST00000218230.6
      Conserved Domains (1) summary
      pfam07259
      Location:34260
      ProSAAS; ProSAAS precursor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      48831096..48835610 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      48241591..48246097 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)