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Protein Coding Gene : Ptch1 patched 1

Primary Identifier  MGI:105373 Organism  mouse, laboratory
Chromosome  13 NCBI Gene Number  19206
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Enables cyclin binding activity; heparin binding activity; and patched binding activity. Involved in several processes, including cellular response to cholesterol; chordate embryonic development; and regulation of DNA-templated transcription. Acts upstream of or within several processes, including chordate embryonic development; epithelial tube morphogenesis; and limb morphogenesis. Located in cilium; midbody; and plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and limb. Used to study basal cell carcinoma; medulloblastoma; and nevoid basal cell carcinoma syndrome. Human ortholog(s) of this gene implicated in carcinoma (multiple); holoprosencephaly (multiple); nevoid basal cell carcinoma syndrome (multiple); and stomach cancer. Orthologous to human PTCH1 (patched 1).
PHENOTYPE: Homozygous null embryos die by day 10 with neural tube defects. Heterozygotes are large with excess cerebellar granule cell proliferation and sometimes, hindlimb defects and medulloblastomas. Hypomorphic and spontaneous mutants have reproductive defects. [provided by MGI curators]
  • synonyms:
  • RIKEN cDNA A230106A15 gene,
  • Ptch1,
  • Patched 1,
  • A230106A15Rik,
  • patched 1,
  • MGD-MRK-12200,
  • MGI:5004954,
  • wig,
  • Ptc1,
  • wiggable,
  • Ptc,
  • mesenchymal dysplasia,
  • MGI:1924464,
  • mes,
  • MGD-MRK-33042,
  • MGI:96966

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 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

0 Driver For