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indian hedgehog protein; IHH; HHG-2; contains: indian hedgehog protein N-product, indian hedgehog protein C-product (IHH)

Function: - intercellular signal essential for a variety of patterning events during development - binds to the patched receptor (PTC), which functions in association with smoothened (SMO), to activate transcription of target genes - implicated in endochondral ossification - may regulate the balance between growth & ossification of developing bones - induces expression of parathyroid hormone-related protein (PTHRP) (putative) - the C-terminal domain displays an autoproteolysis activity & a cholesterol transferase activity - both activities result in cleavage of the full-length protein & covalent attachment of a cholesterol moiety to the C-terminal of the newly generated N-terminal fragment (N-product) - the N-product is the active species in both local & long-range signaling - the C-product has no signaling activity (putative) - cholesterylation is required for N-product targeting to lipid rafts & multimerization (putative) - palmitoylated; N-palmitoylation is required for N-product multimerization & full activity Structure: - belongs to the hedgehog family Compartment: - indian hedgehog protein N-product: - cell membrane; lipid-anchor; extracellular side (putative) - N-terminal peptide remains associated with the cell surface (putative) - indian hedgehog protein C-product: - secreted, extracellular space (putative) - the C-terminal peptide diffuses from the cell (putative) Expression: - expressed in embryonic lung, & in adult kidney & liver Pathology: - defects in IHH are the cause of brachydactyly type A1 - defects in IHH are a cause of acrocapitofemoral dysplasia

Related

Indian hedgehog gene (Ihh)

General

glycoprotein hedgehog family protein

Properties

SIZE: entity length = 411 aa MW = 45 kD COMPARTMENT: extracellular compartment MOTIF: signal sequence {1-27} peptide motif {202-203} aspartate residue {248} threonine residue {272} histidine residue {275} N-glycosylation site {N282}

Database Correlations

OMIM correlations UniProt Q14623 PFAM correlations Entrez Gene 3549 Kegg hsa:3549

References

  1. UniProt :accession Q14623
  2. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/IHH
  3. Marigo V et al Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog. Genomics 28:44-51 1995 PMID: 7590746
  4. Entrez Gene :accession 3549