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Phc1 Gene Detail
Summary
  • Symbol
    Phc1
  • Name
    polyhomeotic 1
  • Synonyms
    Edr1, Mph1, rae28, Rae-28
  • Feature Type
    protein coding gene
  • IDs
    MGI:103248
    NCBI Gene: 13619
  • Gene Overview
    MyGene.info: PHC1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr6:122317738-122340506 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      22769 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 57.52 cM, cytoband F3
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    PHC1, polyhomeotic homolog 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    PHC1, polyhomeotic homolog 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    EDR1, HPH1, MCPH11, RAE28
  • Links
    NCBI Gene ID: 1911
    neXtProt AC: NX_P78364
    UniProt: P78364

  • Chr Location
    12p13.31; chr12:8914664-8941467 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Phc1 mouse models; 1 with human PHC1 associations

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    56 phenotypes from 2 alleles in 3 genetic backgrounds
    17 phenotypes from multigenic genotypes
    1 images
    18 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.
Homozygous mutant mice exhibit perinatal lethality, posterior skeletal transformations and defects in neural crest derived tissues, including ocular abnormalities, cleft palate, parathyroid and thymic hypoplasia and cardiac anomalies. Hematopoiesis is impaired in fetal livers.
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
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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
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000034663 VEGA Gene Model | MGI Sequence Detail 22769 C57BL/6J ±  kb
    transcript OTTMUST00000087975 VEGA | MGI Sequence Detail 3893 Not Applicable  
    polypeptide OTTMUSP00000047920 VEGA | MGI Sequence Detail 1010 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      77 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      11 Sequences
    • InterPro Domains
      IPR038603 FCS-type zinc finger superfamily
      IPR001660 Sterile alpha motif domain
      IPR013761 Sterile alpha motif/pointed domain superfamily
      IPR012313 Zinc finger, FCS-type
    Molecular
    Reagents
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    • All nucleic 185
      Genomic 4
      cDNA 176
      Primer pair 3
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-24124, MGI:2141707
    References
    more
    • Summaries
      All 71
      Developmental Gene Expression 21
      Diseases 2
      Gene Ontology 15
      Phenotypes 18
    • Earliest
      J:19568 Nomura M, et al., Isolation and characterization of retinoic acid-inducible cDNA clones in F9 cells: one of the early inducible clones encodes a novel protein sharing several highly homologous regions with a Drosophila polyhomeotic protein. Differentiation. 1994 Jun;57(1):39-50
    • Latest
      J:194424 Yasunaga S, et al., Scmh1 has E3 ubiquitin ligase activity for geminin and histone H2A and regulates geminin stability directly or indirectly via transcriptional repression of Hoxa9 and Hoxb4. Mol Cell Biol. 2013 Feb;33(4):644-60

    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
    09/18/2018
    MGI 6.12
    The Jackson Laboratory