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Protein

Neuroendocrine convertase 1

Gene

PCSK1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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, insulin and AGRP.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • Release of protein hormones, neuropeptides and renin from their precursors, generally by hydrolysis of -Lys-Arg-|- bonds. EC:3.4.21.93

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei167Charge relay systemBy similarity1
Active sitei208Charge relay systemBy similarity1
Active sitei382Charge relay systemBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

  • cell-cell signaling Source: ProtInc
  • peptide biosynthetic process Source: BHF-UCL
  • peptide hormone processing Source: Reactome
  • proteolysis Source: ProtInc

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase, Protease, Serine protease
LigandCalcium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-209952 Peptide hormone biosynthesis
R-HSA-264876 Insulin processing
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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
P29120

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P29120

Protein family/group databases

MEROPS protease database

More...
MEROPSi
S08.072

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Neuroendocrine convertase 1 (EC:3.4.21.93)
Short name:
NEC 1
Alternative name(s):
Prohormone convertase 1
Proprotein convertase 1
Short name:
PC1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PCSK1
Synonyms:NEC1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000175426.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8743 PCSK1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
162150 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P29120

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasmic vesicle

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Proprotein convertase 1 deficiency (PC1 deficiency)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked small-intestinal absorptive dysfunction It is due to impaired processing of prohormones.
See also OMIM:600955
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_022777213Missing in PC1 deficiency. 1 Publication1
Natural variantiVAR_055002307S → L in PC1 deficiency; in vitro the mutation markedly impairs the catalytic activity of the enzyme; however intracellular trafficking of this mutant enzyme appears normal; retains some autocatalytic activity even though it is completely inactive on other substrates. 1 PublicationCorresponds to variant dbSNP:rs137852824EnsemblClinVar.1
Natural variantiVAR_022778483G → R in PC1 deficiency; prevents processing of pro-PCSK1 and leads to its retention in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs137852821EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Obesity

Organism-specific databases

DisGeNET

More...
DisGeNETi
5122

MalaCards human disease database

More...
MalaCardsi
PCSK1
MIMi600955 phenotype
612362 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000175426

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
71528 Obesity due to prohormone convertase I deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33089

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3182

Drug and drug target database

More...
DrugBanki
DB00030 Insulin Human
DB00071 Insulin Pork

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
2382

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PCSK1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
116242674

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 27Sequence analysisAdd BLAST27
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000002705728 – 110Sequence analysisAdd BLAST83
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000027058111 – 753Neuroendocrine convertase 1Add BLAST643

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi173N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi225 ↔ 374By similarity
Disulfide bondi317 ↔ 347By similarity
Glycosylationi401N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi467 ↔ 494By similarity
Glycosylationi632O-linked (GalNAc...) threonine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

O-glycosylated.1 Publication

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P29120

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P29120

PeptideAtlas

More...
PeptideAtlasi
P29120

PRoteomics IDEntifications database

More...
PRIDEi
P29120

ProteomicsDB human proteome resource

More...
ProteomicsDBi
54519

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
673

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P29120

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P29120

UniCarbKB; an annotated and curated database of glycan structures

More...
UniCarbKBi
P29120

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
P29120

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000175426 Expressed in 131 organ(s), highest expression level in type B pancreatic cell

CleanEx database of gene expression profiles

More...
CleanExi
HS_PCSK1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P29120 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P29120 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA048564

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
111151, 8 interactors

Protein interaction database and analysis system

More...
IntActi
P29120, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000308024

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P29120

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P29120

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P29120

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini162 – 451Peptidase S8Add BLAST290
Domaini460 – 597P/Homo BPROSITE-ProRule annotationAdd BLAST138

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the peptidase S8 family. Furin subfamily.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3525 Eukaryota
COG1404 LUCA
COG4935 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157385

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000192536

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG008705

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P29120

KEGG Orthology (KO)

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KOi
K01359

Identification of Orthologs from Complete Genome Data

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OMAi
RAWTLQC

Database of Orthologous Groups

More...
OrthoDBi
EOG091G05HI

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P29120

TreeFam database of animal gene trees

More...
TreeFami
TF314277

Family and domain databases

Conserved Domains Database

More...
CDDi
cd04059 Peptidases_S8_Protein_converta, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.120.260, 1 hit
3.30.70.850, 1 hit
3.40.50.200, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR008979 Galactose-bd-like_sf
IPR034182 Kexin/furin
IPR002884 P_dom
IPR000209 Peptidase_S8/S53_dom
IPR036852 Peptidase_S8/S53_dom_sf
IPR023827 Peptidase_S8_Asp-AS
IPR022398 Peptidase_S8_His-AS
IPR023828 Peptidase_S8_Ser-AS
IPR015500 Peptidase_S8_subtilisin-rel
IPR022005 Proho_convert
IPR032815 S8_pro-domain
IPR038466 S8_pro-domain_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01483 P_proprotein, 1 hit
PF00082 Peptidase_S8, 1 hit
PF12177 Proho_convert, 1 hit
PF16470 S8_pro-domain, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00723 SUBTILISIN

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49785 SSF49785, 1 hit
SSF52743 SSF52743, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51829 P_HOMO_B, 1 hit
PS00136 SUBTILASE_ASP, 1 hit
PS00137 SUBTILASE_HIS, 1 hit
PS00138 SUBTILASE_SER, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P29120-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MERRAWSLQC TAFVLFCAWC ALNSAKAKRQ FVNEWAAEIP GGPEAASAIA
60 70 80 90 100
EELGYDLLGQ IGSLENHYLF KHKNHPRRSR RSAFHITKRL SDDDRVIWAE
110 120 130 140 150
QQYEKERSKR SALRDSALNL FNDPMWNQQW YLQDTRMTAA LPKLDLHVIP
160 170 180 190 200
VWQKGITGKG VVITVLDDGL EWNHTDIYAN YDPEASYDFN DNDHDPFPRY
210 220 230 240 250
DPTNENKHGT RCAGEIAMQA NNHKCGVGVA YNSKVGGIRM LDGIVTDAIE
260 270 280 290 300
ASSIGFNPGH VDIYSASWGP NDDGKTVEGP GRLAQKAFEY GVKQGRQGKG
310 320 330 340 350
SIFVWASGNG GRQGDNCDCD GYTDSIYTIS ISSASQQGLS PWYAEKCSST
360 370 380 390 400
LATSYSSGDY TDQRITSADL HNDCTETHTG TSASAPLAAG IFALALEANP
410 420 430 440 450
NLTWRDMQHL VVWTSEYDPL ANNPGWKKNG AGLMVNSRFG FGLLNAKALV
460 470 480 490 500
DLADPRTWRS VPEKKECVVK DNDFEPRALK ANGEVIIEIP TRACEGQENA
510 520 530 540 550
IKSLEHVQFE ATIEYSRRGD LHVTLTSAAG TSTVLLAERE RDTSPNGFKN
560 570 580 590 600
WDFMSVHTWG ENPIGTWTLR ITDMSGRIQN EGRIVNWKLI LHGTSSQPEH
610 620 630 640 650
MKQPRVYTSY NTVQNDRRGV EKMVDPGEEQ PTQENPKENT LVSKSPSSSS
660 670 680 690 700
VGGRRDELEE GAPSQAMLRL LQSAFSKNSP PKQSPKKSPS AKLNIPYENF
710 720 730 740 750
YEALEKLNKP SQLKDSEDSL YNDYVDVFYN TKPYKHRDDR LLQALVDILN

EEN
Length:753
Mass (Da):84,152
Last modified:October 17, 2006 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD3CBD1B92093A208
GO
Isoform 2 (identifier: P29120-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-59: MERRAWSLQCTAFVLFCAWCALNSAKAKRQFVNEWAAEIPGGPEAASAIAEELGYDLLG → MGKGSISFLFFS

Note: No experimental confirmation available.
Show »
Length:706
Mass (Da):79,010
Checksum:iF082971DADE9EAAC
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RJA3D6RJA3_HUMAN
Neuroendocrine convertase 1
PCSK1
157Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti357S → G in CAA46031 (PubMed:1547893).Curated1
Sequence conflicti370 – 371LH → VD in BAA11133 (PubMed:8666140).Curated2
Sequence conflicti617R → G in BAH14073 (PubMed:14702039).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variations in PCSK1 define the body mass index quantitative trait locus 12 (BMIQ12) [MIMi:612362]. Variance in body mass index is a susceptibility factor for obesity.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01390680R → Q1 PublicationCorresponds to variant dbSNP:rs1799904Ensembl.1
Natural variantiVAR_022777213Missing in PC1 deficiency. 1 Publication1
Natural variantiVAR_013907221N → D Associated with susceptibility to obesity; induces a 10.4% reduction of activity (P = 0.03) when compared to the wild-type enzyme. 2 PublicationsCorresponds to variant dbSNP:rs6232EnsemblClinVar.1
Natural variantiVAR_055002307S → L in PC1 deficiency; in vitro the mutation markedly impairs the catalytic activity of the enzyme; however intracellular trafficking of this mutant enzyme appears normal; retains some autocatalytic activity even though it is completely inactive on other substrates. 1 PublicationCorresponds to variant dbSNP:rs137852824EnsemblClinVar.1
Natural variantiVAR_022778483G → R in PC1 deficiency; prevents processing of pro-PCSK1 and leads to its retention in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs137852821EnsemblClinVar.1
Natural variantiVAR_013908665Q → E3 PublicationsCorresponds to variant dbSNP:rs6234EnsemblClinVar.1
Natural variantiVAR_013909690S → T2 PublicationsCorresponds to variant dbSNP:rs6235EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0461001 – 59MERRA…YDLLG → MGKGSISFLFFS in isoform 2. 1 PublicationAdd BLAST59

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
X64810 mRNA Translation: CAA46031.1
M90753 mRNA Translation: AAA59918.1
D73407 Genomic DNA Translation: BAA11133.1
AK303888 mRNA Translation: BAH14073.1
AC008951 Genomic DNA No translation available.
AC108107 Genomic DNA No translation available.
U24128 Genomic DNA Translation: AAA73788.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS4081.1 [P29120-1]
CCDS54881.1 [P29120-2]

Protein sequence database of the Protein Information Resource

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PIRi
S21106 KXHUC1

NCBI Reference Sequences

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RefSeqi
NP_000430.3, NM_000439.4 [P29120-1]
NP_001171346.1, NM_001177875.1 [P29120-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.78977

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000311106; ENSP00000308024; ENSG00000175426 [P29120-1]
ENST00000508626; ENSP00000421600; ENSG00000175426 [P29120-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
5122

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5122

UCSC genome browser

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UCSCi
uc003kls.3 human [P29120-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X64810 mRNA Translation: CAA46031.1
M90753 mRNA Translation: AAA59918.1
D73407 Genomic DNA Translation: BAA11133.1
AK303888 mRNA Translation: BAH14073.1
AC008951 Genomic DNA No translation available.
AC108107 Genomic DNA No translation available.
U24128 Genomic DNA Translation: AAA73788.1
CCDSiCCDS4081.1 [P29120-1]
CCDS54881.1 [P29120-2]
PIRiS21106 KXHUC1
RefSeqiNP_000430.3, NM_000439.4 [P29120-1]
NP_001171346.1, NM_001177875.1 [P29120-2]
UniGeneiHs.78977

3D structure databases

ProteinModelPortaliP29120
SMRiP29120
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111151, 8 interactors
IntActiP29120, 2 interactors
STRINGi9606.ENSP00000308024

Chemistry databases

BindingDBiP29120
ChEMBLiCHEMBL3182
DrugBankiDB00030 Insulin Human
DB00071 Insulin Pork
GuidetoPHARMACOLOGYi2382

Protein family/group databases

MEROPSiS08.072

PTM databases

GlyConnecti673
iPTMnetiP29120
PhosphoSitePlusiP29120
UniCarbKBiP29120

Polymorphism and mutation databases

BioMutaiPCSK1
DMDMi116242674

Proteomic databases

EPDiP29120
PaxDbiP29120
PeptideAtlasiP29120
PRIDEiP29120
ProteomicsDBi54519

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311106; ENSP00000308024; ENSG00000175426 [P29120-1]
ENST00000508626; ENSP00000421600; ENSG00000175426 [P29120-2]
GeneIDi5122
KEGGihsa:5122
UCSCiuc003kls.3 human [P29120-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5122
DisGeNETi5122
EuPathDBiHostDB:ENSG00000175426.10

GeneCards: human genes, protein and diseases

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GeneCardsi
PCSK1
HGNCiHGNC:8743 PCSK1
HPAiHPA048564
MalaCardsiPCSK1
MIMi162150 gene
600955 phenotype
612362 phenotype
neXtProtiNX_P29120
OpenTargetsiENSG00000175426
Orphaneti71528 Obesity due to prohormone convertase I deficiency
PharmGKBiPA33089

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3525 Eukaryota
COG1404 LUCA
COG4935 LUCA
GeneTreeiENSGT00940000157385
HOGENOMiHOG000192536
HOVERGENiHBG008705
InParanoidiP29120
KOiK01359
OMAiRAWTLQC
OrthoDBiEOG091G05HI
PhylomeDBiP29120
TreeFamiTF314277

Enzyme and pathway databases

ReactomeiR-HSA-209952 Peptide hormone biosynthesis
R-HSA-264876 Insulin processing
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
SignaLinkiP29120
SIGNORiP29120

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PCSK1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Proprotein_convertase_1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
5122
PMAP-CutDBiP29120

Protein Ontology

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PROi
PR:P29120

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000175426 Expressed in 131 organ(s), highest expression level in type B pancreatic cell
CleanExiHS_PCSK1
ExpressionAtlasiP29120 baseline and differential
GenevisibleiP29120 HS

Family and domain databases

CDDicd04059 Peptidases_S8_Protein_converta, 1 hit
Gene3Di2.60.120.260, 1 hit
3.30.70.850, 1 hit
3.40.50.200, 1 hit
InterProiView protein in InterPro
IPR008979 Galactose-bd-like_sf
IPR034182 Kexin/furin
IPR002884 P_dom
IPR000209 Peptidase_S8/S53_dom
IPR036852 Peptidase_S8/S53_dom_sf
IPR023827 Peptidase_S8_Asp-AS
IPR022398 Peptidase_S8_His-AS
IPR023828 Peptidase_S8_Ser-AS
IPR015500 Peptidase_S8_subtilisin-rel
IPR022005 Proho_convert
IPR032815 S8_pro-domain
IPR038466 S8_pro-domain_sf
PfamiView protein in Pfam
PF01483 P_proprotein, 1 hit
PF00082 Peptidase_S8, 1 hit
PF12177 Proho_convert, 1 hit
PF16470 S8_pro-domain, 1 hit
PRINTSiPR00723 SUBTILISIN
SUPFAMiSSF49785 SSF49785, 1 hit
SSF52743 SSF52743, 1 hit
PROSITEiView protein in PROSITE
PS51829 P_HOMO_B, 1 hit
PS00136 SUBTILASE_ASP, 1 hit
PS00137 SUBTILASE_HIS, 1 hit
PS00138 SUBTILASE_SER, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNEC1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P29120
Secondary accession number(s): B7Z8T7
, E9PHA1, P78478, Q92532
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: October 17, 2006
Last modified: December 5, 2018
This is version 183 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  3. Peptidase families
    Classification of peptidase families and list of entries
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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