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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
Location & Maps
more
  • Genetic Map
    Chromosome X, 3.57 cM, cytoband A1.1
  • Mapping Data
    3 experiments
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

  • Chr Location
    Xp11.23; chrX:48831092-48835638 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    10 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.
  • All Mutations and Alleles
    11
  • Gene trapped
    7
  • Targeted
    4
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018013 VEGA Gene Model | MGI Sequence Detail 4589 C57BL/6J ±  kb
transcript OTTMUST00000043502 VEGA | MGI Sequence Detail 2193 Not Applicable  
polypeptide OTTMUSP00000019553 VEGA | MGI Sequence Detail 258 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    26 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 42
    cDNA 40
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
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MGI:1306777, MGI:2147922
References
more
  • Summaries
    All 48
    Developmental Gene Expression 9
    Gene Ontology 6
    Phenotypes 10
  • 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:202473 Peinado JR, et al., Blockade of islet amyloid polypeptide fibrillation and cytotoxicity by the secretory chaperones 7B2 and proSAAS. FEBS Lett. 2013 Nov 1;587(21):3406-11

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory