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

Gene ID: 9159, updated on 13-Mar-2020

Summary

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
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

Genomic context

See PCSK7 in Genome Data Viewer
Location:
11q23.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (117201156..117232525, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117075788..117102811, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene platelet activating factor acetylhydrolase 1b catalytic subunit 2 Neighboring gene SID1 transmembrane family member 2 Neighboring gene uncharacterized LOC100652768 Neighboring gene transgelin Neighboring gene ring finger protein 214 Neighboring gene BACE1 antisense RNA Neighboring gene beta-secretase 1

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

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23503, FLJ45329

Gene Ontology Provided by GOA

Function Evidence Code Pubs
peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
peptide hormone processing NAS
Non-traceable Author Statement
more info
PubMed 
protein processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein processing IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
integral component of Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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
proprotein convertase subtilisin/kexin type 7 precursor variant 2
subtilisin/kexin-like protease PC7
NP_004707.2
XP_006719003.1
XP_024304532.1
XP_024304533.1

NCBI Reference Sequences (RefSeq)

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_004716.4NP_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
    Q16549
    Related
    ENSP00000325917.3, ENST00000320934.8
    Conserved Domains (4) summary
    cd04059
    Location:145440
    Peptidases_S8_Protein_convertases_Kexins_Furin-like; Peptidase S8 family domain in Protein convertases
    pfam00082
    Location:196441
    Peptidase_S8; Subtilase family
    pfam01483
    Location:525612
    P_proprotein; Proprotein convertase P-domain
    pfam16470
    Location:53141
    S8_pro-domain; Peptidase S8 pro-domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    117201156..117232525 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448764.1XP_024304532.1  proprotein convertase subtilisin/kexin type 7 isoform X1

    Related
    ENSP00000441944.2, ENST00000540028.5
    Conserved Domains (3) summary
    cd04059
    Location:145440
    Peptidases_S8_Protein_convertases_Kexins_Furin-lik; Peptidase S8 family domain in Protein convertases
    pfam01483
    Location:525612
    P_proprotein; Proprotein convertase P-domain
    pfam16470
    Location:53141
    S8_pro-domain; Peptidase S8 pro-domain
  2. XM_006718940.4XP_006719003.1  proprotein convertase subtilisin/kexin type 7 isoform X2

    Conserved Domains (3) summary
    pfam01483
    Location:166253
    P_proprotein; Proprotein convertase P-domain
    cl10459
    Location:181
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl27762
    Location:36151
    Peptidase_S8; Subtilase family
  3. XM_024448765.1XP_024304533.1  proprotein convertase subtilisin/kexin type 7 isoform X2

    Conserved Domains (3) summary
    pfam01483
    Location:166253
    P_proprotein; Proprotein convertase P-domain
    cl10459
    Location:181
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl27762
    Location:36151
    Peptidase_S8; Subtilase family

RNA

  1. XR_947870.3 RNA Sequence

  2. XR_001748031.2 RNA Sequence

  3. XR_428984.4 RNA Sequence

  4. XR_001748033.2 RNA Sequence

  5. XR_001748032.2 RNA Sequence

  6. XR_947871.3 RNA Sequence

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