About   Help   FAQ
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
    gene 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
    26 from dbSNP Build 142
  • Strain Annotations
    18
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 MGP_129S1SvImJ_G0035533
 protein coding gene ChrX:2546287-2550875 (+)
A/J MGP_AJ_G0035510
 protein coding gene ChrX:2504013-2508660 (+)
AKR/J MGP_AKRJ_G0035443
 protein coding gene ChrX:2624628-2629213 (+)
BALB/cJ MGP_BALBcJ_G0035507
 protein coding gene ChrX:2532238-2536826 (+)
C3H/HeJ MGP_C3HHeJ_G0035215
 protein coding gene ChrX:2595189-2599777 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036031
 protein coding gene ChrX:2633972-2638560 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032906
 protein coding gene ChrX:2065678-2070254 (+)
CAST/EiJ MGP_CASTEiJ_G0034516
 protein coding gene ChrX:2485327-2489934 (+)
CBA/J MGP_CBAJ_G0035185
 protein coding gene ChrX:2758954-2763542 (+)
DBA/2J MGP_DBA2J_G0035342
 protein coding gene ChrX:2527351-2531939 (+)
FVB/NJ MGP_FVBNJ_G0035289
 protein coding gene ChrX:2488253-2492841 (+)
LP/J MGP_LPJ_G0035419
 protein coding gene ChrX:2569542-2574130 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035329
 protein coding gene ChrX:2722693-2727278 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036049
 protein coding gene ChrX:2532361-2536949 (+)
PWK/PhJ MGP_PWKPhJ_G0034216
 protein coding gene ChrX:2458113-2462792 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034055
 protein coding gene ChrX:2506205-2510789 (+)
WSB/EiJ MGP_WSBEiJ_G0034639
 protein coding gene ChrX:2540369-2544955 (+)



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
    neXtProt AC: NX_Q9UHG2
    UniProt: Q9UHG2

  • Chr Location
    Xp11.23; chrX:48831096-48835610 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    8 phenotypes from 2 alleles in 2 genetic backgrounds
    15 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
    12
  • GO References
    5
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
non-membrane-bounded 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
    941
  • Tissues
    150
  • cDNA Data
    40
  • Literature Summary
    10
  • 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 44
      cDNA 41
      Primer pair 2
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1306777, MGI:2147922
    References
    more
    • Summaries
      All 58
      Developmental Gene Expression 10
      Gene Ontology 5
      Phenotypes 15
    • 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:335474 Aryal DK, et al., Mice lacking proSAAS display alterations in emotion, consummatory behavior and circadian entrainment. Genes Brain Behav. 2022 Sep;21(7):e12827
    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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory