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    PCSK1 proprotein convertase subtilisin/kexin type 1 [ Homo sapiens (human) ]

    Gene ID: 5122, updated on 6-Sep-2021

    Summary

    Official Symbol
    PCSK1provided by HGNC
    Official Full Name
    proprotein convertase subtilisin/kexin type 1provided by HGNC
    Primary source
    HGNC:HGNC:8743
    See related
    Ensembl:ENSG00000175426 MIM:162150
    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
    PC1; PC3; NEC1; SPC3; BMIQ12
    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. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to subcellular compartments where a second autocatalytic even takes place and the catalytic activity is acquired. The protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide hormones and neuropeptides precursors. Mutations in this gene have been associated with susceptibility to obesity and proprotein convertase 1/3 deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene [provided by RefSeq, Jan 2014]
    Expression
    Biased expression in brain (RPKM 13.3), adrenal (RPKM 3.9) and 6 other tissues See more
    Orthologs
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    Genomic context

    See PCSK1 in Genome Data Viewer
    Location:
    5q15
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (96390333..96433248, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (95726037..95768952, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929710 Neighboring gene MIR583 host gene Neighboring gene RNA, U6 small nuclear 524, pseudogene Neighboring gene uncharacterized LOC107986365 Neighboring gene NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 pseudogene Neighboring gene Sharpr-MPRA regulatory region 11450 Neighboring gene uncharacterized LOC107986362

    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?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    GeneReviews: Not available
    Body mass index quantitative trait locus 12
    MedGen: C2676498 OMIM: 612362 GeneReviews: Not available
    Compare labs
    Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
    GeneReviews: Not available
    Genome-wide association of body fat distribution in African ancestry populations suggests new loci.
    GeneReviews: Not available
    Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
    GeneReviews: Not available
    Meta-analysis identifies common variants associated with body mass index in east Asians.
    GeneReviews: Not available
    Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
    GeneReviews: Not available
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    GeneReviews: Not available
    Proprotein convertase 1/3 deficiency
    MedGen: C1833053 OMIM: 600955 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env PC1, one of the subtilisin/kexin family convertases, cleaves HIV-1 gp160 into gp120 and gp41 at amino acids 511-512 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables serine-type endopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in peptide biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in peptide hormone processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in proteolysis TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
     
    located_in transport vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    neuroendocrine convertase 1
    Names
    prohormone convertase 1
    prohormone convertase 3
    NP_000430.3
    NP_001171346.1

    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.

    Genomic

    1. NG_021161.1 RefSeqGene

      Range
      5034..47949
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000439.5NP_000430.3  neuroendocrine convertase 1 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_000430.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
      Source sequence(s)
      AC008951, DA192592, X64810
      Consensus CDS
      CCDS4081.1
      UniProtKB/Swiss-Prot
      P29120
      Related
      ENSP00000308024.2, ENST00000311106.8
      Conserved Domains (5) summary
      cd04059
      Location:121415
      Peptidases_S8_Protein_convertases_Kexins_Furin-like; Peptidase S8 family domain in Protein convertases
      pfam00082
      Location:158432
      Peptidase_S8; Subtilase family
      pfam01483
      Location:504591
      P_proprotein; Proprotein convertase P-domain
      pfam12177
      Location:715751
      Proho_convert; Prohormone convertase enzyme
      pfam16470
      Location:34110
      S8_pro-domain; Peptidase S8 pro-domain
    2. NM_001177875.2NP_001171346.1  neuroendocrine convertase 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and initiates translation at an alternate start codon compared to variant 1. The resulting isoform (2) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC008951, AC108107, AK303888
      Consensus CDS
      CCDS54881.1
      UniProtKB/Swiss-Prot
      P29120
      Related
      ENSP00000421600.1, ENST00000508626.5
      Conserved Domains (5) summary
      cd04059
      Location:74368
      Peptidases_S8_Protein_convertases_Kexins_Furin-like; Peptidase S8 family domain in Protein convertases
      pfam00082
      Location:111385
      Peptidase_S8; Subtilase family
      pfam01483
      Location:457544
      P_proprotein; Proprotein convertase P-domain
      pfam12177
      Location:668704
      Proho_convert; Prohormone convertase enzyme
      pfam16470
      Location:863
      S8_pro-domain; Peptidase S8 pro-domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      96390333..96433248 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001177876.1: Suppressed sequence

      Description
      NM_001177876.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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