Version 5.4
| Homo sapiens Gene: PCSK1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-34238.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | PCSK1 | ||||||||||||||||||
| Gene Name | proprotein convertase subtilisin/kexin type 1 | ||||||||||||||||||
| Synonyms | BMIQ12; NEC1; PC1; PC3; SPC3 | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000175426 | ||||||||||||||||||
| Encoded Proteins |
proprotein convertase subtilisin/kexin type 1
proprotein convertase subtilisin/kexin type 1
proprotein convertase subtilisin/kexin type 1
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein is a type I proinsulin-processing enzyme that plays a key role in regulating insulin biosynthesis. It is also known to cleave proopiomelanocortin, prorenin, proenkephalin, prodynorphin, prosomatostatin and progastrin. Mutations in this gene are thought to cause obesity. This encoded protein is associated with carcinoid tumors. Mutations in this gene have been associated with susceptibility to obesity and proprotein convertase 1/3 deficiency. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010] 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 undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to subcellular compartments where a second autocatalytic even takes place and the catalytic activity is acquired. The protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide hormones and neuropeptides precursors. Mutations in this gene have been associated with susceptibility to obesity and proprotein convertase 1/3 deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene [provided by RefSeq, Jan 2014] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 5:96390415-96434143 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | q15 | ||||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME |
Insulin processing pathway
Synthesis, secretion, and deacylation of Ghrelin pathway
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) pathway
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) pathway
Peptide hormone biosynthesis pathway
Incretin synthesis, secretion, and inactivation pathway
Metabolism of proteins pathway
Peptide hormone metabolism pathway
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| KEGG | |||||||||||||||||||
| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| UniGene | Hs.609830 Hs.653973 Hs.78977 | ||||||||||||||||||
| RefSeq | NM_000439 NM_001177875 | ||||||||||||||||||
| HUGO | |||||||||||||||||||
| OMIM | |||||||||||||||||||
| CCDS | CCDS4081 CCDS54881 | ||||||||||||||||||
| HPRD | 01201 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | |||||||||||||||||||
| GenPept | |||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||