Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5122
Gene name Gene Name - the full gene name approved by the HGNC.
Proprotein convertase subtilisin/kexin type 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PCSK1
Synonyms (NCBI Gene) Gene synonyms aliases
BMIQ12, NEC1, PC1, PC1/3, PC3, SPC3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PC1, PC3
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q15
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 factor Regulation Reference
ATF1 Activation 8999965
CREB1 Activation 8999965
PAX6 Activation 19034419
REST Unknown 19118055
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IBA 21873635
GO:0004252 Function Serine-type endopeptidase activity ISS
GO:0005615 Component Extracellular space IBA 21873635
GO:0005615 Component Extracellular space IDA 8397508
GO:0006508 Process Proteolysis TAS 9207799
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
162150 8743 ENSG00000175426
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cholestasis Cholestasis rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039
Hyperinsulinism Hyperinsulinism rs387906407, rs151344623, rs121913156, rs137853245, rs80356655, rs104894010, rs104894012, rs104894014, rs104894015, rs137852676, rs587783169, rs72559716, rs541269678, rs151344624, rs797045209
View all (23 more)
Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Isolated somatotropin deficiency Isolated somatotropin deficiency rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391
Unknown
Disease term Disease name Evidence References Source
Acanthosis nigricans Acanthosis Nigricans ClinVar
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acidosis Associate 34068683
ACTH Secreting Pituitary Adenoma Associate 17917309, 31319379
Adenocarcinoma Associate 34646089
Alopecia Neurologic Defects and Endocrinopathy Syndrome Associate 34068683, 36822744
Alzheimer Disease Associate 32967721, 34393677
Atrial Fibrillation Associate 31959406
Autism Spectrum Disorder Associate 33387879, 34573415
Autoimmune enteropathy Associate 32081864
Breast Neoplasms Associate 36705562
Carcinoid Tumor Associate 1547893