Human Gene IHH (ENST00000295731.7) from GENCODE V44
Description: Homo sapiens Indian hedgehog signaling molecule (IHH), mRNA. (from RefSeq NM_002181) RefSeq Summary (NM_002181): This gene encodes a member of the hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Nov 2015]. Gencode Transcript: ENST00000295731.7 Gencode Gene: ENSG00000163501.7 Transcript (Including UTRs) Position: hg38 chr2:219,054,424-219,060,921 Size: 6,498 Total Exon Count: 3 Strand: - Coding Region Position: hg38 chr2:219,055,207-219,060,467 Size: 5,261 Coding Exon Count: 3
ID:IHH_HUMAN DESCRIPTION: RecName: Full=Indian hedgehog protein; Short=IHH; AltName: Full=HHG-2; Contains: RecName: Full=Indian hedgehog protein N-product; Contains: RecName: Full=Indian hedgehog protein C-product; Flags: Precursor; FUNCTION: Intercellular signal essential for a variety of patterning events during development. Binds to the patched (PTC) receptor, which functions in association with smoothened (SMO), to activate the transcription of target genes. Implicated in endochondral ossification: may regulate the balance between growth and ossification of the developing bones. Induces the expression of parathyroid hormone-related protein (PTHRP) (By similarity). SUBCELLULAR LOCATION: Indian hedgehog protein N-product: Cell membrane; Lipid-anchor; Extracellular side (By similarity). Note=The N-terminal peptide remains associated with the cell surface (By similarity). SUBCELLULAR LOCATION: Indian hedgehog protein C-product: Secreted, extracellular space (By similarity). Note=The C-terminal peptide diffuses from the cell (By similarity). TISSUE SPECIFICITY: Expressed in embryonic lung, and in adult kidney and liver. PTM: The C-terminal domain displays an autoproteolysis activity and a cholesterol transferase activity. Both activities result in the cleavage of the full-length protein and 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 and long-range signaling, whereas the C-product has no signaling activity (By similarity). PTM: Cholesterylation is required for N-product targeting to lipid rafts and multimerization (By similarity). PTM: Palmitoylated. N-palmitoylation is required for N-product multimerization and full activity. DISEASE: Defects in IHH are the cause of brachydactyly type A1 (BDA1) [MIM:112500]. BDA1 is an autosomal dominant disorder characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. DISEASE: Defects in IHH are a cause of acrocapitofemoral dysplasia (ACFD) [MIM:607778]. ACFD is a disorder characterized by short stature of variable severity with postnatal onset. The most constant radiographic abnormalities are observed in the tubular bones of the hands and in the proximal part of the femur. Cone- shaped epiphyses or a similar epiphyseal configuration with premature epimetaphyseal fusion result in shortening of the skeletal components involved. Cone-shaped epiphyses were also present to a variable extent at the shoulders, knees, and ankles. SIMILARITY: Belongs to the hedgehog family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IHH";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q14623
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
