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Pou1f1 Gene Detail
Summary
  • Symbol
    Pou1f1
  • Name
    POU domain, class 1, transcription factor 1
  • Synonyms
    GHF-1, Hmp1, Pit-1, Pit1, Pit1-rs1, Snell dwarf
  • Feature Type
    protein coding gene
  • IDs
    MGI:97588
    NCBI Gene: 18736
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:65317397-65331183 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 37.25 cM
  • Mapping Data
    39 experiments
Strain
Comparison
more
  • SNPs within 2kb
    555 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    2
  • RFLP
    7
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97588
 protein coding gene Chr16:65317397-65331904 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    POU1F1, POU class 1 homeobox 1
  • Synonyms
    CPHD1, GHF-1, Pit-1, PIT1, POU1F1a
  • Links
    NCBI Gene ID: 5449
    neXtProt AC: NX_P28069
    UniProt: P28069

  • Chr Location
    3p11.2; chr3:87259404-87276584 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human POU1F1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    42 phenotypes from 3 alleles in 5 genetic backgrounds
    1 phenotype from multigenic genotypes
    1 images
    117 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.
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
less
  • All GO Annotations
    56
  • GO References
    23
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
    914
  • Tissues
    152
  • cDNA Data
    23
  • Literature Summary
    90
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000004842 Ensembl Gene Model | MGI Sequence Detail 13787 C57BL/6J ±  kb
    transcript ENSMUST00000176038 Ensembl | MGI Sequence Detail 1174 Not Applicable  
    polypeptide ENSMUSP00000135574 Ensembl | MGI Sequence Detail 317 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 40
      Genomic 2
      cDNA 26
      Primer pair 5
      Other 7

      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 299
      Developmental Gene Expression 90
      Gene Ontology 23
      Phenotypes 117
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory