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Protein Coding Gene : Phc1 polyhomeotic 1

Primary Identifier  MGI:103248 Organism  mouse, laboratory
Chromosome  6 NCBI Gene Number  13619
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables chromatin binding activity. Acts upstream of or within cellular response to leukemia inhibitory factor and cellular response to retinoic acid. Located in nuclear body. Part of sex chromatin. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and sensory organ. Used to study tetralogy of Fallot. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly 11. Orthologous to human PHC1 (polyhomeotic homolog 1).
PHENOTYPE: 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. [provided by MGI curators]
  • synonyms:
  • early development regulator 1 (homolog of polyhomeotic 1),
  • expressed sequence AW557034,
  • MGD-MRK-24124,
  • AW557034,
  • Phc1,
  • MGI:2141707,
  • Mph1,
  • rae28,
  • polyhomeotic 1,
  • Rae-28,
  • Edr1

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

1 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

14 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For