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Pou1f1 Gene Detail
Summary
  • Symbol
    Pou1f1
  • Name
    POU domain, class 1, transcription factor 1
  • Synonyms
    GHF-1, Hmp1, Pit1, Pit-1, Pit1-rs1, Snell dwarf
  • Feature Type
    protein coding gene
  • IDs
    MGI:97588
    NCBI Gene: 18736
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:65520629-65533981 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 37.25 cM
  • Mapping Data
    39 experiments
Strain
Comparison
more
  • SNPs within 2kb
    136 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97588
protein coding gene Chr16:65520511-65535005 (.)
129S1/SvImJ MGP_129S1SvImJ_G0022944
protein coding gene Chr16:65045905-65062685 (+)
A/J MGP_AJ_G0022912
protein coding gene Chr16:62252833-62267101 (+)
AKR/J MGP_AKRJ_G0022882
protein coding gene Chr16:64195851-64211855 (+)
BALB/cJ MGP_BALBcJ_G0022914
protein coding gene Chr16:62477669-62492443 (+)
C3H/HeJ MGP_C3HHeJ_G0022676
protein coding gene Chr16:64507004-64521714 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023362
protein coding gene Chr16:66982438-67000043 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020865
protein coding gene Chr16:61260301-61274561 (+)
CAST/EiJ MGP_CASTEiJ_G0022199
protein coding gene Chr16:64726057-64738987 (+)
CBA/J MGP_CBAJ_G0022647
protein coding gene Chr16:69857056-69875699 (+)
DBA/2J MGP_DBA2J_G0022779
protein coding gene Chr16:62012223-62025917 (+)
FVB/NJ MGP_FVBNJ_G0022753
protein coding gene Chr16:61625731-61640047 (+)
LP/J MGP_LPJ_G0022848
protein coding gene Chr16:64841786-64856557 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022772
protein coding gene Chr16:71034869-71062642 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023378
protein coding gene Chr16:64287944-64302547 (+)
PWK/PhJ MGP_PWKPhJ_G0021942
protein coding gene Chr16:62172156-62186272 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021772
protein coding gene Chr16:63984108-63997944 (+)
WSB/EiJ MGP_WSBEiJ_G0022246
protein coding gene Chr16:64381704-64397125 (+)



Homology
more
  • Human Ortholog
    POU1F1, POU class 1 homeobox 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    POU1F1, POU class 1 homeobox 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CPHD1, GHF-1, Pit-1, PIT1, POU1F1a
  • Links
    NCBI Gene ID: 5449
    neXtProt AC: NX_P28069
    UniProt: P28069

  • Chr Location
    3p11.2; chr3:87259633-87276587 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human POU1F1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    40 phenotypes from 2 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    1 images
    92 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.
Homozygotes for spontaneous mutations exhibit hypoplasia of the anterior pituitary cells resulting in deficiencies in growth hormone, prolactin, and thyroid-stimulating hormone, dwarfism, and sterility.
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 population 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
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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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18736 NCBI Gene Model | MGI Sequence Detail 13353 C57BL/6J ±  kb
    transcript NM_001362468 RefSeq | MGI Sequence Detail 2057 Not Specified  
    polypeptide Q00286 UniProt | EBI | MGI Sequence Detail 291 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 38
      Genomic 2
      cDNA 26
      Primer pair 4
      Other 6

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-13314, MGD-MRK-13315, MGD-MRK-19464, MGD-MRK-8920, MGI:102578
    References
    more
    • Summaries
      All 254
      Developmental Gene Expression 75
      Gene Ontology 20
      Phenotypes 92
    • Earliest
      J:13120 Snell GD, DWARF, A NEW MENDELIAN RECESSIVE CHARACTER OF THE HOUSE MOUSE. Proc Natl Acad Sci U S A. 1929 Sep 15;15(9):733-4
    • Latest
      J:265455 Rader EP, et al., VCAM-1 upregulation accompanies muscle remodeling following resistance-type exercise in Snell dwarf (Pit1(dw/dw) ) mice. Aging Cell. 2018 Oct;17(5):e12816

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory