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PCSK1 (proprotein convertase subtilisin/kexin type 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5122
Gene nameGene Name - the full gene name approved by the HGNC.
Proprotein convertase subtilisin/kexin type 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PCSK1
SynonymsGene synonyms aliases
BMIQ12, NEC1, PC1, PC1/3, PC3, SPC3
ChromosomeChromosome number
5
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q15
SummarySummary 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Peptide hormone biosynthesis
Synthesis, secretion, and deacylation of Ghrelin
Associated diseases
Causal
Disease name Disease term 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, rs761749884, rs797045624, rs863225280, rs139964066, rs1057516281, rs1057516317, rs576684889, rs201682634, rs1350717554, rs768951263, rs1260178539, rs200670692, rs72559734, rs1400535021, rs372307320, rs1554923999, rs751279984, rs1008906426, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1599937180
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 name Disease term dbSNP ID References
Acanthosis nigricans Acanthosis Nigricans rs780668
Gonadotropin deficiency Gonadotropin deficiency
Hypoglycemic seizures Hypoglycemic seizures
Hypogonadism Hypogonadism

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