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Pcsk1n Gene Detail
Summary
  • Symbol
    Pcsk1n
  • Name
    proprotein convertase subtilisin/kexin type 1 inhibitor
  • Synonyms
    basic protein IA-4, MGC:19107, Pan3, proSAAS
  • Feature Type
    protein coding gene
  • IDs
    MGI:1353431
    NCBI Gene: 30052
  • Alliance
    genome feature page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:7786061-7790649 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 3.57 cM, cytoband A1.1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    136 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1353431
 protein coding gene ChrX:7786061-7790649 (+)
129S1/SvImJ ENSMUSG00200030522
 protein coding gene ChrX:2486700-2491289 (+)
A/J ENSMUSG00195039942
 protein coding gene ChrX:2509668-2514257 (+)
AKR/J ENSMUSG00220031707
 protein coding gene ChrX:2497198-2501784 (+)
BALB/cJ ENSMUSG00180026223
 protein coding gene ChrX:2507378-2511966 (+)
C3H/HeJ ENSMUSG00175029009
 protein coding gene ChrX:2521348-2525936 (+)
C57BL/6NJ ENSMUSG00215039646
 protein coding gene ChrX:3185199-3189785 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032906
 protein coding gene ChrX:2065678-2070254 (+)
CAST/EiJ ENSTCUG00005031808
 protein coding gene ChrX:2456294-2460901 (+)
CBA/J ENSMUSG00210035392
 protein coding gene ChrX:2538225-2542813 (+)
DBA/2J ENSMUSG00185028325
 protein coding gene ChrX:9155348-9159936 (+)
FVB/NJ ENSMUSG00205019410
 protein coding gene ChrX:2531965-2536553 (+)
JF1/MsJ ENSUMUG00000030652
 protein coding gene ChrX:23041473-23046083 (+)
LP/J ENSMUSG00230029658
 protein coding gene ChrX:13675549-13680137 (+)
NOD/ShiLtJ ENSMUSG00190027421
 protein coding gene ChrX:2512043-2516628 (+)
NZO/HlLtJ ENSMUSG00225045112
 protein coding gene ChrX:18941070-18945658 (+)
PWK/PhJ ENSLUMG00010033522
 protein coding gene ChrX:2501837-2506446 (+)
SPRET/EiJ ENSMSPG00010020897
 protein coding gene ChrX:2538814-2543405 (+)
WSB/EiJ ENSIUOG00005030816
 protein coding gene ChrX:16010613-16015199 (-)



Homology
more
  • Human Ortholog
    PCSK1N, proprotein convertase subtilisin/kexin type 1 inhibitor
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PCSK1N, proprotein convertase subtilisin/kexin type 1 inhibitor
  • Synonyms
    BigLEN, PEN, PROSAAS, SAAS, SCG8, SgVIII
  • Links
    NCBI Gene ID: 27344
    UniProt: Q9UHG2

  • Chr Location
    Xp11.23; chrX:48831088-48835632 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    6 phenotypes from 2 alleles in 2 genetic backgrounds
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele have behavioral/neurological defects as well as decreased body weight.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    26
  • GO References
    12
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    835
  • Tissues
    153
  • cDNA Data
    41
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 30052 NCBI Gene Model | MGI Sequence Detail 4589 C57BL/6J ±  kb
    transcript NM_013892 RefSeq | MGI Sequence Detail 2208 C57BL/6  
    polypeptide Q9QXV0 UniProt | EBI | MGI Sequence Detail 258 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 45
      cDNA 42
      Primer pair 2
      Other 1
      Antibodies 4

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1306777, MGI:2147922
    References
    more
    • Summaries
      All 70
      Developmental Gene Expression 11
      Gene Ontology 12
      Phenotypes 16
    • Earliest
      J:46843 Donadel G, et al., Molecular cloning and characterization of a highly basic protein, IA-4, expressed in pancreatic islets and brain. Neuroendocrinology. 1998 Mar;67(3):190-6
    • Latest
      J:346780 Amato E Jr, et al., Illuminating the terminal nerve: Uncovering the link between GnRH-1 neuron and olfactory development. J Comp Neurol. 2024 Mar;532(3):e25599
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/15/2026
    MGI 6.29     		The Jackson Laboratory