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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
297
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Body mass index quantitative trait locus 12 Likely pathogenic; Pathogenic rs2531505680 RCV003441152
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
RCV002291323
RCV002306253
RCV002306254
RCV002306255
RCV003227576
RCV003441152
RCV000015081
RCV000015082
RCV000015083
RCV000015084
RCV000015085
RCV000995597
RCV000995598
RCV001290206
PCSK1-related disorder Likely pathogenic rs1464398432, rs567641208, rs1359353262 RCV004747117
RCV003901767
RCV003939801
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Monogenic Non-Syndromic Obesity Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity rs886060874, rs886060876, rs2882298, rs6556922, rs373852338, rs886060882, rs373041583, rs886060885, rs6234, rs6236, rs538803955, rs199951150, rs886060877, rs189919167, rs182581645
View all (36 more)
RCV000342865
RCV000333819
RCV000342580
RCV000307358
RCV000272141
RCV000323230
RCV000260656
RCV000331249
RCV000397598
RCV000298180
RCV000397585
RCV000395731
RCV000270498
RCV000290620
RCV000279298
RCV000395776
RCV000370187
RCV000259909
RCV000374499
RCV000294746
RCV000318486
RCV000383668
RCV000291728
RCV000368049
RCV000328137
RCV000323901
RCV000318260
RCV000349980
RCV000299659
RCV000384857
RCV000376944
RCV000387259
RCV000345988
RCV000358756
RCV000305580
RCV000288016
RCV000304198
RCV000322441
RCV000334856
RCV000390603
RCV000313031
RCV000307699
RCV000371861
RCV000353213
RCV000358567
RCV000406522
RCV000363149
RCV000283894
RCV000272404
RCV000358669
RCV000404347
Thymoma Benign rs3792746 RCV005919757
Uterine corpus endometrial carcinoma Uncertain significance rs527304866 RCV005926446
Associations from Text MiningDisease associations identified through Pubtator
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