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

Gene ID: 9159, updated on 11-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (117204337..117232073, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (117219634..117247371, complement)
105.20220307 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
  • 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. 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
  2. PCSK7 gene variation bridges atherogenic dyslipidemia with hepatic inflammation in NAFLD patients. Dongiovanni P, et al. J Lipid Res, 2019 Jun. PMID 30918065, Free PMC Article
  3. Proprotein convertase 7 rs236918 associated with liver fibrosis in Italian patients with HFE-related hemochromatosis. Pelucchi S, et al. J Gastroenterol Hepatol, 2016 Jul. PMID 26868056
  4. Genome-wide association study of serum lipids confirms previously reported associations as well as new associations of common SNPs within PCSK7 gene with triglyceride. Kurano M, et al. J Hum Genet, 2016 May. PMID 26763881
  5. PCSK7 genotype modifies effect of a weight-loss diet on 2-year changes of insulin resistance: the POUNDS LOST trial. Huang T, et al. Diabetes Care, 2015 Mar. PMID 25504030, Free PMC Article

See all (61) 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_2023_10

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

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