|  Help  |  About  |  Contact Us

Protein Coding Gene : Trp63 transformation related protein 63

Primary Identifier  MGI:1330810 Organism  mouse, laboratory
Chromosome  16 NCBI Gene Number  22061
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Enables several functions, including DNA binding activity; DNA-binding transcription activator activity, RNA polymerase II-specific; and promoter-specific chromatin binding activity. Involved in several processes, including establishment of skin barrier; negative regulation of intracellular estrogen receptor signaling pathway; and regulation of epidermal cell division. Acts upstream of or within several processes, including embryonic morphogenesis; epithelial cell differentiation; and regulation of transcription by RNA polymerase II. Located in nucleus. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; sensory organ; and surface ectoderm. Used to study ankyloblepharon-ectodermal defects-cleft lip/palate syndrome; bladder exstrophy; ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3; and gastroesophageal reflux disease. Human ortholog(s) of this gene implicated in several diseases, including ADULT syndrome; EEC syndrome (multiple); ectodermal dysplasia (multiple); orofacial cleft 8; and split hand-foot malformation 4. Orthologous to human TP63 (tumor protein p63).
PHENOTYPE: Homozygotes for null mutations lack hair follicles, teeth, eyelids, and all squamous epithelia and derivatives including mammary, lacrymal, salivary, and prostate glands. Mutants have craniofacial anomalies, missing or truncated limbs, and small genitalia, and they die perinatally. [provided by MGI curators]
  • synonyms:
  • Trp53rp1,
  • MGI:2146440,
  • p63,
  • p51/p63,
  • p73L,
  • AI462811,
  • MGI:1332227,
  • MGI:1196329,
  • p53-related protein 1,
  • KET protein,
  • Trp63,
  • transformation related protein 63,
  • expressed sequence AI462811,
  • deltaNp63,
  • TAp63

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

3 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

6 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

8 Driver For