Human Gene PCSK4 (ENST00000300954.10) from GENCODE V44
  Description: Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA. (from RefSeq NM_017573)
RefSeq Summary (NM_017573): 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].
Gencode Transcript: ENST00000300954.10
Gencode Gene: ENSG00000115257.15
Transcript (Including UTRs)
   Position: hg38 chr19:1,481,428-1,490,350 Size: 8,923 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg38 chr19:1,481,759-1,490,346 Size: 8,588 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Methods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:1,481,428-1,490,350)mRNA (may differ from genome)Protein (755 aa)
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MalacardsMGIneXtProtOMIMPubMedUniProtKB
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-  Comments and Description Text from UniProtKB
  ID: PCSK4_HUMAN
DESCRIPTION: RecName: Full=Proprotein convertase subtilisin/kexin type 4; EC=3.4.21.-; AltName: Full=Proprotein convertase 4; Short=PC4; Flags: Precursor;
FUNCTION: Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Plays a role in transcriptional coactivation. May be involved in stabilizing the multiprotein transcription complex.
SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein (Potential).
TISSUE SPECIFICITY: Placenta.
DEVELOPMENTAL STAGE: Localized predominantly in the cytotrophoblast layer of trophoblast cells during the first trimester of pregnancy, and to the syncytiotrophoblast and stroma cells during the third trimester.
SIMILARITY: Belongs to the peptidase S8 family. Furin subfamily.
SIMILARITY: Contains 1 FU (furin-like) repeat.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 116.27 RPKM in Testis
Total median expression: 196.06 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -132.00331-0.399 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006212 - Furin_repeat
IPR008979 - Galactose-bd-like
IPR009030 - Growth_fac_rcpt
IPR000209 - Peptidase_S8/S53
IPR023827 - Peptidase_S8_Asp-AS
IPR022398 - Peptidase_S8_His-AS
IPR023828 - Peptidase_S8_Ser-AS
IPR015500 - Peptidase_S8_subtilisin-rel
IPR009020 - Prot_inh_propept
IPR002884 - PrprotnconvertsP

Pfam Domains:
PF01483 - Proprotein convertase P-domain
PF00082 - Subtilase family

ModBase Predicted Comparative 3D Structure on Q6UW60
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004252 serine-type endopeptidase activity
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008236 serine-type peptidase activity
GO:0016787 hydrolase activity

Biological Process:
GO:0006508 proteolysis
GO:0007339 binding of sperm to zona pellucida
GO:0007340 acrosome reaction
GO:0009566 fertilization
GO:0016485 protein processing
GO:0022414 reproductive process
GO:0048240 sperm capacitation

Cellular Component:
GO:0001669 acrosomal vesicle
GO:0002080 acrosomal membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031410 cytoplasmic vesicle


-  Descriptions from all associated GenBank mRNAs
  AL133566 - Homo sapiens mRNA; cDNA DKFZp434B217 (from clone DKFZp434B217).
AK057235 - Homo sapiens cDNA FLJ32673 fis, clone TESTI1000138, highly similar to Proprotein convertase subtilisin/kexin type 4 precursor (EC 3.4.21.-).
AY358963 - Homo sapiens clone DNA119302 prohormone convertase (UNQ2757) mRNA, complete cds.
BC142942 - Homo sapiens cDNA clone IMAGE:8860322.
LP858656 - Sequence 7 from Patent WO2017141032.
BC036354 - Homo sapiens proprotein convertase subtilisin/kexin type 4, mRNA (cDNA clone IMAGE:5172367), complete cds.
LF208816 - JP 2014500723-A/16319: Polycomb-Associated Non-Coding RNAs.
MA444393 - JP 2018138019-A/16319: Polycomb-Associated Non-Coding RNAs.
JD397554 - Sequence 378578 from Patent EP1572962.
JD536730 - Sequence 517754 from Patent EP1572962.
JD474144 - Sequence 455168 from Patent EP1572962.
JD074605 - Sequence 55629 from Patent EP1572962.
HM005448 - Homo sapiens clone HTL-T-1350 testicular tissue protein Li 135 mRNA, complete cds.
JD318072 - Sequence 299096 from Patent EP1572962.
JD190442 - Sequence 171466 from Patent EP1572962.
JD479715 - Sequence 460739 from Patent EP1572962.
KJ906199 - Synthetic construct Homo sapiens clone ccsbBroadEn_15869 PCSK4 gene, encodes complete protein.
DQ891316 - Synthetic construct clone IMAGE:100003946; FLH171029.01X; RZPDo839E04100D proprotein convertase subtilisin/kexin type 4 (PCSK4) gene, encodes complete protein.
DQ893353 - Synthetic construct clone IMAGE:100005983; FLH196517.01X; RZPDo839E05156D proprotein convertase subtilisin/kexin type 4 (PCSK4) gene, encodes complete protein.
DQ894500 - Synthetic construct Homo sapiens clone IMAGE:100008960; FLH171025.01L; RZPDo839E0499D proprotein convertase subtilisin/kexin type 4 (PCSK4) gene, encodes complete protein.
DQ896672 - Synthetic construct Homo sapiens clone IMAGE:100011132; FLH196513.01L; RZPDo839E05155D proprotein convertase subtilisin/kexin type 4 (PCSK4) gene, encodes complete protein.
EU176806 - Synthetic construct Homo sapiens clone IMAGE:100011570; FLH263590.01L; RZPDo839D05154D proprotein convertase subtilisin/kexin type 4 (PCSK4) gene, encodes complete protein.
BC167771 - Synthetic construct Homo sapiens clone IMAGE:100068161, MGC:195778 proprotein convertase subtilisin/kexin type 4 (PCSK4) mRNA, encodes complete protein.
LF323109 - JP 2014500723-A/130612: Polycomb-Associated Non-Coding RNAs.
MA558686 - JP 2018138019-A/130612: Polycomb-Associated Non-Coding RNAs.
AK302079 - Homo sapiens cDNA FLJ55937 complete cds, highly similar to Proprotein convertase subtilisin/kexin type 4 precursor (EC 3.4.21.-).
JD442719 - Sequence 423743 from Patent EP1572962.
LF323114 - JP 2014500723-A/130617: Polycomb-Associated Non-Coding RNAs.
MA558691 - JP 2018138019-A/130617: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000300954.1, ENST00000300954.2, ENST00000300954.3, ENST00000300954.4, ENST00000300954.5, ENST00000300954.6, ENST00000300954.7, ENST00000300954.8, ENST00000300954.9, NM_017573, PC4, PCSK4_HUMAN, Q6UW60, Q8IY88, Q9UF79, uc002ltb.1, uc002ltb.2, uc002ltb.3, uc002ltb.4, UNQ2757/PRO6496
UCSC ID: ENST00000300954.10
RefSeq Accession: NM_017573
Protein: Q6UW60 (aka PCSK4_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.