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    PCSK7 proprotein convertase subtilisin/kexin type 7 [ Homo sapiens (human) ]

    Gene ID: 9159, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PCSK7provided by HGNC
    Official Full Name
    proprotein convertase subtilisin/kexin type 7provided by HGNC
    Primary source
    HGNC:HGNC:8748
    See related
    Ensembl:ENSG00000160613 MIM:604872; AllianceGenome:HGNC:8748
    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
    LPC; PC7; PC8; SPC7
    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]
    Expression
    Ubiquitous expression in endometrium (RPKM 37.0), urinary bladder (RPKM 33.8) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See PCSK7 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (117204337..117232073, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (117219634..117247371, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117075053..117102789, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5565 Neighboring gene platelet activating factor acetylhydrolase 1b catalytic subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5567 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117052141-117052936 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117058437-117058937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5568 Neighboring gene SID1 transmembrane family member 2 Neighboring gene uncharacterized LOC100652768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117066811-117067310 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117068643-117069306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117072631-117073294 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117076473-117077103 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117077104-117077734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117077735-117078365 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117079206-117079706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117079707-117080207 Neighboring gene transgelin Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:117088224-117089423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117089878-117090378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5569 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5570 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3935 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117106511-117107012 Neighboring gene Sharpr-MPRA regulatory region 1788 Neighboring gene ring finger protein 214 Neighboring gene small Cajal body-specific RNA 11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117139693-117140239 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:117159860-117161059 Neighboring gene BACE1 antisense RNA Neighboring gene beta-secretase 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. A new member of the proprotein convertase gene family (LPC) is located at a chromosome translocation breakpoint in lymphomas. Meerabux J, et al. Cancer Res, 1996 Feb 1. PMID 8564950
    2. Gene organization and alternative splicing of human prohormone convertase PC8. Goodge KA, et al. Biochem J, 1998 Dec 1. PMID 9820811, Free PMC Article
    3. Post-endoplasmic reticulum rescue of unstable MHC class I requires proprotein convertase PC7. Leonhardt RM, et al. J Immunol, 2010 Mar 15. PMID 20164418
    4. 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. Vargas-Alarcón G, et al. Cells, 2021 Jun 9. PMID 34207761, Free PMC Article
    5. Internalization of proprotein convertase PC7 from plasma membrane is mediated by a novel motif. Declercq J, et al. J Biol Chem, 2012 Mar 16. PMID 22294700, Free PMC Article

    See all (63) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dysregulation of the LPC-ATX-LPA axis in autoimmune hepatitis is associated with monocyte activation.
      Title: Dysregulation of the LPC-ATX-LPA axis in autoimmune hepatitis is associated with monocyte activation.
    2. Network Medicine Approach in Prevention and Personalized Treatment of Dyslipidemias.
      Title: Network Medicine Approach in Prevention and Personalized Treatment of Dyslipidemias.
    3. Variations in TM6SF2, PCSK9 and PCSK7 genes and risk of hepatic steatosis after liver transplantation: a cross-sectional study.
      Title: Variations in TM6SF2, PCSK9 and PCSK7 genes and risk of hepatic steatosis after liver transplantation: a cross-sectional study.
    4. 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.
      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.
    5. Proprotein convertase 7 (PCSK7) reduces apoA-V levels.
      Title: Proprotein convertase 7 (PCSK7) reduces apoA-V levels.
    6. Variants in PCSK7, PNPLA3 and TM6SF2 are risk factors for the development of cirrhosis in hereditary haemochromatosis.
      Title: Variants in PCSK7, PNPLA3 and TM6SF2 are risk factors for the development of cirrhosis in hereditary haemochromatosis.
    7. The motif EXEXXXL in the cytosolic tail of the secretory human proprotein convertase PC7 regulates its trafficking and cleavage activity.
      Title: The motif EXEXXXL in the cytosolic tail of the secretory human proprotein convertase PC7 regulates its trafficking and cleavage activity.
    8. PCSK7 gene variation is associated with dyslipidemia and more severe liver disease in high risk individuals, likely by modulating PCSK7 expression/activity.
      Title: PCSK7 gene variation bridges atherogenic dyslipidemia with hepatic inflammation in NAFLD patients.
    9. Our present data suggest that PCSK7 as well as PCSK9 may be associated with lipids, especially triglyceride, and may serve as a candidate for a new drug target to treat lipid abnormality syndromes.
      Title: Genome-wide association study of serum lipids confirms previously reported associations as well as new associations of common SNPs within PCSK7 gene with triglyceride.
    10. PCSK7 rs236918 C allele is a risk factor for cirrhosis development in Italian patients with HFE-Hemochromatosis.
      Title: Proprotein convertase 7 rs236918 associated with liver fibrosis in Italian patients with HFE-related hemochromatosis.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
    EBI GWAS Catalog
    Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env Kexin/subtilisin-related convertases such as furin, PACE4, PC1, PC2, PC7/LPC, PC5, and its isoform PC5/6-B can process HIV-1 gp160 to gp120/gp41 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23503, FLJ45329

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables peptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in peptide hormone processing NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within protein processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    proprotein convertase subtilisin/kexin type 7
    Names
    lymphoma proprotein convertase
    prohormone convertase 7
    prohormone convertase PC7
    proprotein convertase 7
    proprotein convertase 8
    proprotein convertase PC7
    subtilisin/kexin-like protease PC7
    NP_004707.2
    XP_006719003.1
    XP_047283817.1
    XP_047283818.1
    XP_047283819.1
    XP_047283820.1
    XP_047283821.1
    XP_047283822.1
    XP_054226458.1
    XP_054226459.1
    XP_054226460.1
    XP_054226461.1
    XP_054226462.1
    XP_054226463.1
    XP_054226464.1

    NCBI Reference Sequences (RefSeq)

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    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_004716.4 → NP_004707.2  proprotein convertase subtilisin/kexin type 7 preproprotein

      See identical proteins and their annotated locations for NP_004707.2

      Status: REVIEWED

      Source sequence(s)
      AP000892, BC010696, EL950661
      Consensus CDS
      CCDS8382.1
      UniProtKB/Swiss-Prot
      B0YJ60, Q16549, Q3C1X1, Q53GM4, Q96FK8, Q9UL57
      Related
      ENSP00000325917.3, ENST00000320934.8
      Conserved Domains (4) summary
      cd04059
      Location:145 → 440
      Peptidases_S8_Protein_convertases_Kexins_Furin-like; Peptidase S8 family domain in Protein convertases
      pfam00082
      Location:196 → 441
      Peptidase_S8; Subtilase family
      pfam01483
      Location:525 → 612
      P_proprotein; Proprotein convertase P-domain
      pfam16470
      Location:53 → 141
      S8_pro-domain; Peptidase S8 pro-domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      117204337..117232073 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006718940.5 → XP_006719003.1  proprotein convertase subtilisin/kexin type 7 isoform X6

      Conserved Domains (3) summary
      pfam01483
      Location:166 → 253
      P_proprotein; Proprotein convertase P-domain
      cl10459
      Location:1 → 81
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
      cl27762
      Location:36 → 151
      Peptidase_S8; Subtilase family

    2. XM_047427866.1 → XP_047283822.1  proprotein convertase subtilisin/kexin type 7 isoform X5

    3. XM_047427864.1 → XP_047283820.1  proprotein convertase subtilisin/kexin type 7 isoform X4

    4. XM_047427861.1 → XP_047283817.1  proprotein convertase subtilisin/kexin type 7 isoform X1

    5. XM_047427865.1 → XP_047283821.1  proprotein convertase subtilisin/kexin type 7 isoform X4

    6. XM_047427863.1 → XP_047283819.1  proprotein convertase subtilisin/kexin type 7 isoform X3

    7. XM_047427862.1 → XP_047283818.1  proprotein convertase subtilisin/kexin type 7 isoform X2

    RNA

    1. XR_947871.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      117219634..117247371 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370489.1 → XP_054226464.1  proprotein convertase subtilisin/kexin type 7 isoform X6

    2. XM_054370488.1 → XP_054226463.1  proprotein convertase subtilisin/kexin type 7 isoform X5

    3. XM_054370486.1 → XP_054226461.1  proprotein convertase subtilisin/kexin type 7 isoform X4

    4. XM_054370483.1 → XP_054226458.1  proprotein convertase subtilisin/kexin type 7 isoform X1

    5. XM_054370487.1 → XP_054226462.1  proprotein convertase subtilisin/kexin type 7 isoform X4

    6. XM_054370485.1 → XP_054226460.1  proprotein convertase subtilisin/kexin type 7 isoform X3

    7. XM_054370484.1 → XP_054226459.1  proprotein convertase subtilisin/kexin type 7 isoform X2

    RNA

    1. XR_008488493.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16549.2 GenPept UniProtKB/Swiss-Prot:Q16549

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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