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PCSK4 proprotein convertase subtilisin/kexin type 4 [ Homo sapiens (human) ]

Gene ID: 54760, updated on 7-Jun-2020

Summary

Official Symbol
PCSK4provided by HGNC
Official Full Name
proprotein convertase subtilisin/kexin type 4provided by HGNC
Primary source
HGNC:HGNC:8746
See related
Ensembl:ENSG00000115257 MIM:600487
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
PC4; SPC5
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. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. The protease is expressed only in the testis, placenta, and ovary. It plays a critical role in fertilization, fetoplacental growth, and embryonic development and processes multiple prohormones including pro-pituitary adenylate cyclase-activating protein and pro-insulin-like growth factor II. [provided by RefSeq, Jan 2014]
Expression
Biased expression in testis (RPKM 19.7) and kidney (RPKM 0.9) See more
Orthologs

Genomic context

See PCSK4 in Genome Data Viewer
Location:
19p13.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (1481428..1490874, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1481427..1490886, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 2129 Neighboring gene APC regulator of WNT signaling pathway 2 Neighboring gene chromosome 19 open reading frame 25 Neighboring gene receptor accessory protein 6 Neighboring gene ADAMTS like 5

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

Homology

Clone Names

  • MGC34749, DKFZp434B217

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
acrosome reaction ISS
Inferred from Sequence or Structural Similarity
more info
 
binding of sperm to zona pellucida ISS
Inferred from Sequence or Structural Similarity
more info
 
fertilization ISS
Inferred from Sequence or Structural Similarity
more info
 
peptide hormone processing IBA
Inferred from Biological aspect of Ancestor
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 
reproductive process ISS
Inferred from Sequence or Structural Similarity
more info
 
sperm capacitation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
acrosomal membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
acrosomal vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of Golgi membrane IBA
Inferred from Biological aspect of Ancestor
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 4
Names
testicular tissue protein Li 135

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_017573.4NP_060043.2  proprotein convertase subtilisin/kexin type 4 preproprotein

    See identical proteins and their annotated locations for NP_060043.2

    Status: REVIEWED

    Source sequence(s)
    AA453604, AY358963, HY011376
    Consensus CDS
    CCDS12069.2
    UniProtKB/Swiss-Prot
    Q6UW60
    UniProtKB/TrEMBL
    A0A140VJQ9
    Related
    ENSP00000300954.5, ENST00000300954.9
    Conserved Domains (5) summary
    cd04059
    Location:118407
    Peptidases_S8_Protein_convertases_Kexins_Furin-like; Peptidase S8 family domain in Protein convertases
    smart00261
    Location:647684
    FU; Furin-like repeats
    pfam00082
    Location:149432
    Peptidase_S8; Subtilase family
    pfam01483
    Location:489575
    P_proprotein; Proprotein convertase P-domain
    pfam16470
    Location:37113
    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_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    1481428..1490874 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528091.2XP_011526393.1  proprotein convertase subtilisin/kexin type 4 isoform X7

    Conserved Domains (5) summary
    cd04059
    Location:21310
    Peptidases_S8_Protein_convertases_Kexins_Furin-like; Peptidase S8 family domain in Protein convertases
    smart00261
    Location:550587
    FU; Furin-like repeats
    pfam00082
    Location:52335
    Peptidase_S8; Subtilase family
    pfam01483
    Location:392478
    P_proprotein; Proprotein convertase P-domain
    pfam16470
    Location:116
    S8_pro-domain; Peptidase S8 pro-domain
  2. XM_011528088.2XP_011526390.1  proprotein convertase subtilisin/kexin type 4 isoform X4

    Conserved Domains (5) summary
    cd04059
    Location:83372
    Peptidases_S8_Protein_convertases_Kexins_Furin-like; Peptidase S8 family domain in Protein convertases
    smart00261
    Location:612649
    FU; Furin-like repeats
    pfam00082
    Location:114397
    Peptidase_S8; Subtilase family
    pfam01483
    Location:454540
    P_proprotein; Proprotein convertase P-domain
    pfam16470
    Location:278
    S8_pro-domain; Peptidase S8 pro-domain
  3. XM_024451554.1XP_024307322.1  proprotein convertase subtilisin/kexin type 4 isoform X10

    Conserved Domains (3) summary
    cd04059
    Location:34219
    Peptidases_S8_Protein_convertases_Kexins_Furin-lik; Peptidase S8 family domain in Protein convertases
    smart00261
    Location:459496
    FU; Furin-like repeats
    pfam01483
    Location:301387
    P_proprotein; Proprotein convertase P-domain
  4. XM_011528096.1XP_011526398.1  proprotein convertase subtilisin/kexin type 4 isoform X13

    Conserved Domains (3) summary
    smart00261
    Location:425462
    FU; Furin-like repeats
    pfam01483
    Location:267353
    P_proprotein; Proprotein convertase P-domain
    cl10459
    Location:765
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
  5. XM_005259586.1XP_005259643.1  proprotein convertase subtilisin/kexin type 4 isoform X10

    See identical proteins and their annotated locations for XP_005259643.1

    Conserved Domains (3) summary
    cd04059
    Location:34219
    Peptidases_S8_Protein_convertases_Kexins_Furin-lik; Peptidase S8 family domain in Protein convertases
    smart00261
    Location:459496
    FU; Furin-like repeats
    pfam01483
    Location:301387
    P_proprotein; Proprotein convertase P-domain
  6. XM_024451555.1XP_024307323.1  proprotein convertase subtilisin/kexin type 4 isoform X11

    Conserved Domains (4) summary
    cd04059
    Location:7279
    Peptidases_S8_Protein_convertases_Kexins_Furin-lik; Peptidase S8 family domain in Protein convertases
    smart00261
    Location:519556
    FU; Furin-like repeats
    pfam01483
    Location:361447
    P_proprotein; Proprotein convertase P-domain
    cl28643
    Location:464555
    VSP; Giardia variant-specific surface protein
  7. XM_011528090.2XP_011526392.1  proprotein convertase subtilisin/kexin type 4 isoform X6

    Conserved Domains (4) summary
    smart00261
    Location:553590
    FU; Furin-like repeats
    pfam01483
    Location:395481
    P_proprotein; Proprotein convertase P-domain
    pfam16470
    Location:37113
    S8_pro-domain; Peptidase S8 pro-domain
    cl10459
    Location:118193
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
  8. XM_024451553.1XP_024307321.1  proprotein convertase subtilisin/kexin type 4 isoform X10

    Conserved Domains (3) summary
    cd04059
    Location:34219
    Peptidases_S8_Protein_convertases_Kexins_Furin-lik; Peptidase S8 family domain in Protein convertases
    smart00261
    Location:459496
    FU; Furin-like repeats
    pfam01483
    Location:301387
    P_proprotein; Proprotein convertase P-domain
  9. XM_011528089.2XP_011526391.1  proprotein convertase subtilisin/kexin type 4 isoform X5

    Conserved Domains (4) summary
    smart00261
    Location:580617
    FU; Furin-like repeats
    pfam01483
    Location:422508
    P_proprotein; Proprotein convertase P-domain
    pfam16470
    Location:37140
    S8_pro-domain; Peptidase S8 pro-domain
    cl10459
    Location:145220
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
  10. XM_011528086.2XP_011526388.1  proprotein convertase subtilisin/kexin type 4 isoform X2

    Conserved Domains (5) summary
    cd04059
    Location:145434
    Peptidases_S8_Protein_convertases_Kexins_Furin-like; Peptidase S8 family domain in Protein convertases
    smart00261
    Location:665702
    FU; Furin-like repeats
    pfam00082
    Location:176459
    Peptidase_S8; Subtilase family
    pfam01483
    Location:507593
    P_proprotein; Proprotein convertase P-domain
    pfam16470
    Location:37140
    S8_pro-domain; Peptidase S8 pro-domain
  11. XM_011528087.2XP_011526389.1  proprotein convertase subtilisin/kexin type 4 isoform X3

    Conserved Domains (5) summary
    cd04059
    Location:145434
    Peptidases_S8_Protein_convertases_Kexins_Furin-like; Peptidase S8 family domain in Protein convertases
    smart00261
    Location:616653
    FU; Furin-like repeats
    pfam00082
    Location:176459
    Peptidase_S8; Subtilase family
    pfam01483
    Location:516551
    P_proprotein; Proprotein convertase P-domain
    pfam16470
    Location:37140
    S8_pro-domain; Peptidase S8 pro-domain
  12. XM_011528093.2XP_011526395.1  proprotein convertase subtilisin/kexin type 4 isoform X9

    Conserved Domains (4) summary
    cd04059
    Location:145434
    Peptidases_S8_Protein_convertases_Kexins_Furin-like; Peptidase S8 family domain in Protein convertases
    pfam00082
    Location:176459
    Peptidase_S8; Subtilase family
    pfam01483
    Location:516551
    P_proprotein; Proprotein convertase P-domain
    pfam16470
    Location:37140
    S8_pro-domain; Peptidase S8 pro-domain
  13. XM_011528085.2XP_011526387.1  proprotein convertase subtilisin/kexin type 4 isoform X1

    Conserved Domains (5) summary
    cd04059
    Location:145434
    Peptidases_S8_Protein_convertases_Kexins_Furin-like; Peptidase S8 family domain in Protein convertases
    smart00261
    Location:674711
    FU; Furin-like repeats
    pfam00082
    Location:176459
    Peptidase_S8; Subtilase family
    pfam01483
    Location:516602
    P_proprotein; Proprotein convertase P-domain
    pfam16470
    Location:37140
    S8_pro-domain; Peptidase S8 pro-domain
  14. XM_011528094.1XP_011526396.1  proprotein convertase subtilisin/kexin type 4 isoform X10

    See identical proteins and their annotated locations for XP_011526396.1

    Related
    ENST00000441747.6
    Conserved Domains (3) summary
    cd04059
    Location:34219
    Peptidases_S8_Protein_convertases_Kexins_Furin-lik; Peptidase S8 family domain in Protein convertases
    smart00261
    Location:459496
    FU; Furin-like repeats
    pfam01483
    Location:301387
    P_proprotein; Proprotein convertase P-domain
  15. XM_011528092.2XP_011526394.1  proprotein convertase subtilisin/kexin type 4 isoform X8

    Conserved Domains (4) summary
    cd04059
    Location:145434
    Peptidases_S8_Protein_convertases_Kexins_Furin-like; Peptidase S8 family domain in Protein convertases
    pfam00082
    Location:176459
    Peptidase_S8; Subtilase family
    pfam01483
    Location:516602
    P_proprotein; Proprotein convertase P-domain
    pfam16470
    Location:37140
    S8_pro-domain; Peptidase S8 pro-domain
  16. XM_011528095.2XP_011526397.1  proprotein convertase subtilisin/kexin type 4 isoform X12

    Conserved Domains (2) summary
    pfam16470
    Location:37140
    S8_pro-domain; Peptidase S8 pro-domain
    cl10459
    Location:145220
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
  17. XM_024451556.1XP_024307324.1  proprotein convertase subtilisin/kexin type 4 isoform X14

    Conserved Domains (2) summary
    cd04059
    Location:34219
    Peptidases_S8_Protein_convertases_Kexins_Furin-lik; Peptidase S8 family domain in Protein convertases
    cl27557
    Location:301336
    P_proprotein; Proprotein convertase P-domain

RNA

  1. XR_936187.2 RNA Sequence

  2. XR_936191.2 RNA Sequence

    Related
    ENST00000591201.5
  3. XR_936188.2 RNA Sequence

  4. XR_936189.2 RNA Sequence

  5. XR_936190.2 RNA Sequence

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