Human Gene PCSK1 (ENST00000311106.8_7) from GENCODE V47lift37
  Description: proprotein convertase subtilisin/kexin type 1, transcript variant 1 (from RefSeq NM_000439.5)
Gencode Transcript: ENST00000311106.8_7
Gencode Gene: ENSG00000175426.11_10
Transcript (Including UTRs)
   Position: hg19 chr5:95,726,037-95,768,952 Size: 42,916 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr5:95,728,705-95,768,746 Size: 40,042 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:95,726,037-95,768,952)mRNA (may differ from genome)Protein (753 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NEC1_HUMAN
DESCRIPTION: RecName: Full=Neuroendocrine convertase 1; Short=NEC 1; EC=3.4.21.93; AltName: Full=Prohormone convertase 1; AltName: Full=Proprotein convertase 1; Short=PC1; Flags: Precursor;
FUNCTION: Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Substrates include POMC, renin, enkephalin, dynorphin, somatostatin and insulin.
CATALYTIC ACTIVITY: Release of protein hormones, neuropeptides and renin from their precursors, generally by hydrolysis of -Lys- Arg-|- bonds.
COFACTOR: Calcium.
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle. Note=Localized in the secretion granules.
POLYMORPHISM: Genetic variations in PCSK1 define the body mass index quantitative trait locus 12 (BMIQ12) [MIM:612362]. Variance in body mass index is a susceptibility factor for obesity.
DISEASE: Defects in PCSK1 are the cause of proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]. PC1 deficiency is characterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked small-intestinal absorptive dysfunction It is due to impaired processing of prohormones.
SIMILARITY: Belongs to the peptidase S8 family. Furin subfamily.

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: PCSK1
Diseases sorted by gene-association score: obesity with impaired prohormone processing* (1550), obesity bmiq12* (575), proprotein convertase-1 deficiency* (140), obesity (11), hypoadrenalism (11), hyperproinsulinemia (9), adrenocorticotropic hormone deficiency (9), kallmann syndrome (6), acth deficiency (4), artery disease (4), pituitary adenoma, acth-secreting (4)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.00 RPKM in Brain - Hypothalamus
Total median expression: 65.93 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -83.50206-0.405 Picture PostScript Text
3' UTR -636.902668-0.239 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
IPR008979 - Galactose-bd-like
IPR000209 - Peptidase_S8/S53
IPR023827 - Peptidase_S8_Asp-AS
IPR022398 - Peptidase_S8_His-AS
IPR023828 - Peptidase_S8_Ser-AS
IPR015500 - Peptidase_S8_subtilisin-rel
IPR022005 - Proho_convert
IPR009020 - Prot_inh_propept
IPR002884 - PrprotnconvertsP

Pfam Domains:
PF00082 - Subtilase family
PF01483 - Proprotein convertase P-domain
PF12177 - Prohormone convertase enzyme
PF16470 - Peptidase S8 pro-domain

SCOP Domains:
49785 - Galactose-binding domain-like
52743 - Subtilisin-like
54897 - Protease propeptides/inhibitors

ModBase Predicted Comparative 3D Structure on P29120
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004175 endopeptidase activity
GO:0004252 serine-type endopeptidase activity
GO:0008233 peptidase activity
GO:0008236 serine-type peptidase activity
GO:0016787 hydrolase activity
GO:0042802 identical protein binding

Biological Process:
GO:0006508 proteolysis
GO:0007267 cell-cell signaling
GO:0016485 protein processing
GO:0016486 peptide hormone processing
GO:0043043 peptide biosynthetic process

Cellular Component:
GO:0005615 extracellular space
GO:0030133 transport vesicle
GO:0031410 cytoplasmic vesicle
GO:0034774 secretory granule lumen


-  Descriptions from all associated GenBank mRNAs
  KJ897302 - Synthetic construct Homo sapiens clone ccsbBroadEn_06696 PCSK1 gene, encodes complete protein.
KR711681 - Synthetic construct Homo sapiens clone CCSBHm_00028464 PCSK1 (PCSK1) mRNA, encodes complete protein.
KR711682 - Synthetic construct Homo sapiens clone CCSBHm_00028466 PCSK1 (PCSK1) mRNA, encodes complete protein.
KR711683 - Synthetic construct Homo sapiens clone CCSBHm_00028467 PCSK1 (PCSK1) mRNA, encodes complete protein.
BC031211 - Homo sapiens proprotein convertase subtilisin/kexin type 1, mRNA (cDNA clone IMAGE:5275840).
LP858650 - Sequence 1 from Patent WO2017141032.
AB208874 - Homo sapiens mRNA for proprotein convertase subtilisin/kexin type 1 preproprotein variant protein.
X64810 - H.sapiens encoding PC1/PC3.
JD566205 - Sequence 547229 from Patent EP1572962.
JD307983 - Sequence 289007 from Patent EP1572962.
JD299791 - Sequence 280815 from Patent EP1572962.
JD559575 - Sequence 540599 from Patent EP1572962.
JD181628 - Sequence 162652 from Patent EP1572962.
JD246397 - Sequence 227421 from Patent EP1572962.
JD159970 - Sequence 140994 from Patent EP1572962.
JD165008 - Sequence 146032 from Patent EP1572962.
JD503749 - Sequence 484773 from Patent EP1572962.
JD322792 - Sequence 303816 from Patent EP1572962.
JD055024 - Sequence 36048 from Patent EP1572962.
JD357008 - Sequence 338032 from Patent EP1572962.
JD507763 - Sequence 488787 from Patent EP1572962.
JD386344 - Sequence 367368 from Patent EP1572962.
JD062385 - Sequence 43409 from Patent EP1572962.
JD068847 - Sequence 49871 from Patent EP1572962.
JD299824 - Sequence 280848 from Patent EP1572962.
M90753 - H.sapiens PC1 (NEC1) mRNA, complete cds.
JD143240 - Sequence 124264 from Patent EP1572962.
JD194565 - Sequence 175589 from Patent EP1572962.
JD053217 - Sequence 34241 from Patent EP1572962.
JD136065 - Sequence 117089 from Patent EP1572962.
JD201937 - Sequence 182961 from Patent EP1572962.
JD527471 - Sequence 508495 from Patent EP1572962.
JD120214 - Sequence 101238 from Patent EP1572962.
JD096966 - Sequence 77990 from Patent EP1572962.
JD262752 - Sequence 243776 from Patent EP1572962.
AK308575 - Homo sapiens cDNA, FLJ98616.
AK303888 - Homo sapiens cDNA FLJ51752 complete cds, highly similar to Neuroendocrine convertase 1 precursor (EC 3.4.21.93).
JD137268 - Sequence 118292 from Patent EP1572962.
BC130295 - Homo sapiens proprotein convertase subtilisin/kexin type 1, mRNA (cDNA clone MGC:163167 IMAGE:40146326), complete cds.
BC136486 - Homo sapiens proprotein convertase subtilisin/kexin type 1, mRNA (cDNA clone MGC:168098 IMAGE:9020475), complete cds.
JD312472 - Sequence 293496 from Patent EP1572962.
AB590528 - Synthetic construct DNA, clone: pFN21AE2080, Homo sapiens PCSK1 gene for proprotein convertase subtilisin/kexin type 1, without stop codon, in Flexi system.
JD336373 - Sequence 317397 from Patent EP1572962.
JD386656 - Sequence 367680 from Patent EP1572962.
JD559643 - Sequence 540667 from Patent EP1572962.
JD080495 - Sequence 61519 from Patent EP1572962.
JD398367 - Sequence 379391 from Patent EP1572962.
JD247516 - Sequence 228540 from Patent EP1572962.
JD514231 - Sequence 495255 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P29120 (Reactome details) participates in the following event(s):

R-HSA-265301 Corticotropin cleavage from POMC
R-HSA-400492 PCSK1 hydrolyzes proGIP to GIP
R-HSA-422021 PCSK1 hydrolyzes acyl Proghrelin to acyl Ghrelin
R-HSA-9023196 PCSK1 cleaves proinsulin to yield Insulin(25-56) and Insulin(57-110)
R-HSA-209952 Peptide hormone biosynthesis
R-HSA-381771 Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
R-HSA-400511 Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
R-HSA-422085 Synthesis, secretion, and deacylation of Ghrelin
R-HSA-264876 Insulin processing
R-HSA-2980736 Peptide hormone metabolism
R-HSA-400508 Incretin synthesis, secretion, and inactivation
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B7Z8T7, E9PHA1, ENST00000311106.1, ENST00000311106.2, ENST00000311106.3, ENST00000311106.4, ENST00000311106.5, ENST00000311106.6, ENST00000311106.7, NEC1, NEC1_HUMAN, NM_000439, P29120, P78478, Q92532, uc317oxl.1, uc317oxl.2
UCSC ID: ENST00000311106.8_7
RefSeq Accession: NM_000439.5
Protein: P29120 (aka NEC1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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