Gene: PCSK1 (proprotein convertase subtilisin/kexin type 1)  Homo sapiens
Symbol: PCSK1
Name: proprotein convertase subtilisin/kexin type 1
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BMIQ12; NEC 1; NEC1; neuroendocrine convertase 1; OTTHUMP00000151175; OTTHUMP00000222725; PC1; PC3; prohormone convertase 1; prohormone convertase 3; SPC3
Orthologs: Mus musculus : Pcsk1 (proprotein convertase subtilisin/kexin type 1)  MGI
Rattus norvegicus : Pcsk1 (proprotein convertase subtilisin/kexin type 1)
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Alternate Assembly CHM1_1596,009,090 - 96,052,142-NCBI
Human Genome Assembly HuRef590,916,038 - 90,958,959-NCBI
Human Genome Assembly GRCh37595,726,040 - 95,768,985-NCBI
Human Genome Assembly Build 36595,751,875 - 95,794,708-NCBI
Human Cytogenetic Map5q15-q21 NCBI
Human Genome Assembly595,751,874 - 95,794,708 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)

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RGD Disease Portals

Genomics

Candidate Gene Status
Comparative Map Data
Position Markers
QTLs in Region (Human Genome Assembly GRCh37)

Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
Nomenclature History
  
More on PCSK1
Entrez Gene
Ensembl Gene
Genome Browser: (hg18) (hg19)
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 734345
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2013-03-05
Status: ACTIVE



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