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PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor [ Homo sapiens (human) ]

Gene ID: 27344, updated on 1-Jun-2020

Summary

Official Symbol
PCSK1Nprovided by HGNC
Official Full Name
proprotein convertase subtilisin/kexin type 1 inhibitorprovided by HGNC
Primary source
HGNC:HGNC:17301
See related
Ensembl:ENSG00000102109 MIM:300399
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PEN; SAAS; SCG8; BigLEN; SgVIII; PROSAAS
Summary
The protein encoded by this gene functions as an inhibitor of prohormone convertase 1, which regulates the proteolytic cleavage of neuroendocrine peptide precursors. The proprotein is further processed into multiple short peptides. A polymorphism within this gene may be associated with obesity. [provided by RefSeq, Aug 2013]
Expression
Biased expression in kidney (RPKM 101.8), brain (RPKM 31.9) and 2 other tissues See more
Orthologs

Genomic context

See PCSK1N in Genome Data Viewer
Location:
Xp11.23
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (48831096..48835610, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48689504..48694036, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene histone deacetylase 6 Neighboring gene ES cell expressed Ras Neighboring gene translocase of inner mitochondrial membrane 17B Neighboring gene polyglutamine binding protein 1 Neighboring gene solute carrier family 35 member A2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
signaling receptor binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
neuropeptide signaling pathway IEA
Inferred from Electronic Annotation
more info
 
peptide hormone processing IEA
Inferred from Electronic Annotation
more info
 
response to cold IEA
Inferred from Electronic Annotation
more info
 
response to dietary excess IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
secretory granule IEA
Inferred from Electronic Annotation
more info
 
trans-Golgi network IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
proSAAS
Names
granin-like neuroendocrine peptide
pro-SAAS
proprotein convertase 1 inhibitor

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_013271.5NP_037403.1  proSAAS preproprotein

    See identical proteins and their annotated locations for NP_037403.1

    Status: REVIEWED

    Source sequence(s)
    BC002851, BX459856
    Consensus CDS
    CCDS14307.1
    UniProtKB/Swiss-Prot
    Q9UHG2
    Related
    ENSP00000218230.5, ENST00000218230.6
    Conserved Domains (1) summary
    pfam07259
    Location:1190
    ProSAAS; ProSAAS precursor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    48831096..48835610 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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