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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
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:7919822-7924410 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • 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:7919822-7924410 (.)
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
    8
  • Human Ortholog
    PCSK1N, proprotein convertase subtilisin/kexin type 1 inhibitor
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BigLEN, PEN, PROSAAS, SAAS, SCG8, SgVIII
  • Links
    NCBI Gene ID: 27344
    neXtProt AC: NX_Q9UHG2
    UniProt: Q9UHG2

  • Chr Location
    Xp11.23; chrX:48831092-48835638 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 2 alleles in 2 genetic backgrounds
    13 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    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 57
      Developmental Gene Expression 9
      Gene Ontology 7
      Phenotypes 13
    • 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:246576 Berezniuk I, et al., ProSAAS-derived peptides are regulated by cocaine and are required for sensitization to the locomotor effects of cocaine. J Neurochem. 2017 Nov;143(3):268-281

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory