Gene Gene information from NCBI Gene database.
Entrez ID 5122
Gene name Proprotein convertase subtilisin/kexin type 1
Gene symbol PCSK1
Synonyms (NCBI Gene)
BMIQ12NEC1PC1PC1/3PC3SPC3
Chromosome 5
Chromosome location 5q15
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 under
miRNA miRNA information provided by mirtarbase database.
540
miRTarBase ID miRNA Experiments Reference
MIRT029995 hsa-miR-26b-5p Microarray 19088304
MIRT530376 hsa-miR-3156-5p PAR-CLIP 22012620
MIRT530375 hsa-miR-1179 PAR-CLIP 22012620
MIRT530374 hsa-miR-892c-5p PAR-CLIP 22012620
MIRT530373 hsa-miR-10b-3p PAR-CLIP 22012620
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
ATF1 Activation 8999965
CREB1 Activation 8999965
PAX6 Activation 19034419
REST Unknown 19118055
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IEA
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0004252 Function Serine-type endopeptidase activity ISS
GO:0005615 Component Extracellular space IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
162150 8743 ENSG00000175426
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P29120
Protein name Neuroendocrine convertase 1 (NEC 1) (EC 3.4.21.93) (Prohormone convertase 1) (Proprotein convertase 1) (PC1)
Protein 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, insulin and AGRP.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16470 S8_pro-domain 34 110 Peptidase S8 pro-domain Domain
PF00082 Peptidase_S8 158 442 Subtilase family Domain
PF01483 P_proprotein 504 591 Proprotein convertase P-domain Family
PF12177 Proho_convert 713 751 Prohormone convertase enzyme Domain
Sequence
Sequence length 753
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Peptide hormone biosynthesis
Synthesis, secretion, and deacylation of Ghrelin
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Body mass index quantitative trait locus 12 Likely pathogenic; Pathogenic rs2531505680 RCV003441152
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity due to prohormone convertase I deficiency Pathogenic; Likely pathogenic rs2112419752, rs1168396288, rs150991567, rs771457696, rs145558922, rs1480597482, rs1301652826, rs2531459837, rs2531513538, rs2531505680, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824
View all (3 more)
RCV001784811
RCV001807939
RCV001808251
RCV001823847
RCV002291322
View all (14 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PCSK1-related disorder Likely pathogenic rs1464398432, rs567641208, rs1359353262 RCV004747117
RCV003901767
RCV003939801
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BODY WEIGHT CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Monogenic Non-Syndromic Obesity Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acanthosis Nigricans Acanthosis Nigricans HPO_DG
★☆☆☆☆
Found in Text Mining only
ACTH-Secreting Pituitary Adenoma Pituitary adenoma LHGDN 17917309
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 14558669
★☆☆☆☆
Found in Text Mining only
Alveolar Soft Part Sarcoma Alveolar Sarcoma BEFREE 21552147
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 32967721, 34393677 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 27532042
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 27532042
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 31959406 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 33387879, 34573415 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 15741235
★☆☆☆☆
Found in Text Mining only