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Phc1 Gene Detail
Summary
  • Symbol
    Phc1
  • Name
    polyhomeotic-like 1 (Drosophila)
  • Synonyms
    Edr1, Mph1, rae28, Rae-28
  • Feature Type
    protein coding gene
  • IDs
    MGI:103248
    NCBI Gene: 13619
  • Gene Overview
    MyGene.info: PHC1
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
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

  • Chr Location
    12p13; chr12:8914684-8941467 (+)  GRCh38.p2

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

Human Disease Mouse Models
       Tetralogy of Fallot; TOF   OMIM: 187500 View 1 model
       Microcephaly 11, Primary, Autosomal Recessive; MCPH11   OMIM: 615414
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    36 phenotypes from 1 allele in 2 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
embryogenesis
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
tumorigenesis
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
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 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
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  • SNPs within 2kb
    77 from dbSNP Build 142
Protein
Information
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  • UniProt
    11 Sequences
  • Protein Ontology
    PR:000012633 polyhomeotic-like protein 1
  • InterPro Domains
    IPR001660 Sterile alpha motif domain
    IPR013761 Sterile alpha motif/pointed domain
    IPR012313 Zinc finger, FCS-type
Molecular
Reagents
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  • All nucleic 183
    Genomic 4
    cDNA 175
    Primer pair 3
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-24124, MGI:2141707
References
more
  • Summaries
    All 66
    Developmental Gene Expression 21
    Diseases 1
    Gene Ontology 13
    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:186106 Tavares L, et al., RYBP-PRC1 complexes mediate H2A ubiquitylation at polycomb target sites independently of PRC2 and H3K27me3. Cell. 2012 Feb 17;148(4):664-78

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory