About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:122294690-122317520 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 57.52 cM, cytoband F3
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    77 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103248
 protein coding gene Chr6:122294690-122317551 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031225
 protein coding gene Chr6:125394858-125417478 (-)
A/J MGP_AJ_G0031194
 protein coding gene Chr6:120651975-120675753 (-)
AKR/J MGP_AKRJ_G0031123
 protein coding gene Chr6:123987685-124013457 (-)
BALB/cJ MGP_BALBcJ_G0031203
 protein coding gene Chr6:120336587-120359310 (-)
C3H/HeJ MGP_C3HHeJ_G0030922
 protein coding gene Chr6:123937376-123960097 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031662
 protein coding gene Chr6:128679842-128702428 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028821
 protein coding gene Chr6:117250015-117272489 (-)
CAST/EiJ MGP_CASTEiJ_G0030312
 protein coding gene Chr6:124181347-124207790 (-)
CBA/J MGP_CBAJ_G0030886
 protein coding gene Chr6:133706436-133731000 (-)
DBA/2J MGP_DBA2J_G0031042
 protein coding gene Chr6:119569656-119592461 (-)
FVB/NJ MGP_FVBNJ_G0030994
 protein coding gene Chr6:118515207-118537818 (-)
LP/J MGP_LPJ_G0031122
 protein coding gene Chr6:125548261-125570898 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031029
 protein coding gene Chr6:137684424-137709559 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031692
 protein coding gene Chr6:123876193-123901803 (-)
PWK/PhJ MGP_PWKPhJ_G0030026
 protein coding gene Chr6:118389238-118413173 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029853
 protein coding gene Chr6:121994579-122017758 (-)
WSB/EiJ MGP_WSBEiJ_G0030394
 protein coding gene Chr6:124178334-124201068 (-)



Homology
more
  • Human Ortholog
    PHC1, polyhomeotic homolog 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PHC1, polyhomeotic homolog 1
  • Synonyms
    EDR1, HPH1, MCPH11, RAE28
  • Links
    NCBI Gene ID: 1911
    neXtProt AC: NX_P78364
    UniProt: P78364

  • Chr Location
    12p13.31; chr12:8913843-8941467 (+)  GRCh38
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
less
  • Phenotype Summary
    58 phenotypes from 2 alleles in 3 genetic backgrounds
    17 phenotypes from multigenic genotypes
    1 images
    22 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.
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
less
  • All GO Annotations
    25
  • GO References
    17
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
non-membrane-bounded 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
    1030
  • Tissues
    244
  • cDNA Data
    175
  • Literature Summary
    24
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040669 Ensembl Gene Model | MGI Sequence Detail 22831 C57BL/6J ±  kb
    transcript ENSMUST00000079560 Ensembl | MGI Sequence Detail 3839 Not Applicable  
    polypeptide ENSMUSP00000078514 Ensembl | MGI Sequence Detail 1010 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • 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 79
      Developmental Gene Expression 24
      Diseases 2
      Gene Ontology 17
      Phenotypes 22
    • 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:341389 Ong ALC, et al., Acquisition of neural fate by combination of BMP blockade and chromatin modification. iScience. 2023 Oct 20;26(10):107887
    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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    04/23/2024
    MGI 6.23     		The Jackson Laboratory