Gene content  |
| SHH ( by HUGO) |
| Sonic Hedgehog |
| Other |
| Sonic Hedgehog HLP3 HPE3 MCOPCB5 SMMCI Sonic Hedgehog (Drosophila) Homolog Sonic Hedgehog Homolog (Drosophila) HHG1 TPT TPTPS Sonic Hedgehog Homolog Sonic Hedgehog Protein HHG-1 |
| NCBI: 7q36 Ensembl: 7q36.3 |
|
Subunit: Interacts with HHATL/GUP1 which negatively regulates HHAT-mediated palmitoylation of the SHH N-terminus. N-product is active as a multimer. Interacts with BOC and CDON (By similarity). Interacts with HHIP Mass spectrometry: Mass=19.560; Method=Electrospray; Range=24-197; Note=Soluble N-product, purified from insect cells; Source=PubMed:9593755; Mass spectrometry: Mass=20.167; Method=Electrospray; Range=24-197; Note=Membrane-bound N-product, purified from insect cells; Source=PubMed:9593755;
Tissue specificity: Expressed in fetal intestine, liver, lung, and kidney. Not expressed in adult tissues [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Arrays including SHH (see all 8): Neurogenesis in human mouse rat Hedgehog Signaling Pathway in human mouse rat Angiog
Function: UniProtKB/Swiss-Prot Summary: SHH_HUMAN, Q15465 Function: Binds to the patched (PTC) receptor, which functions in association with smoothened (SMO), to activate the transcription of target genes. In the absence of SHH, PTC represses the constitutive signaling activity of SMO. Also regulates another target, the gli oncogene. Intercellular signal essential for a variety of patterning events during development: signal produced by the notochord that induces ventral cell fate in the neural tube and somites, and the polarizing signal for patterning of the anterior-posterior axis of the developing limb bud. Displays both floor plate- and motor neuron-inducing activity. The threshold concentration of N-product required for motor neuron induction is 5-fold lower than that required for floor plate induction (By similarity)
Similarity: Belongs to the hedgehog family [IMAGE]
|
| Protein Domain/Family |
| Source |
ID |
Domain |
Name |
Type |
| InterPro | IPR000320 | Hedgehog_signalling_dom | Hedgehog amino-terminal signaling region | Domain
|
| IPR001657 | Hedgehog | Peptidase C46, hedgehog protein | Family
|
| IPR001767 | Hint_dom | Peptidase C46, hedgehog protein, hint region | Domain
|
| IPR003586 | Hint_dom_C | Hedgehog/intein hint domain, C-terminal | Domain
|
| IPR003587 | Hint_dom_N | Hedgehog/intein hint, N-terminal | Domain
|
| IPR006141 | Intein_splice_site | Protein splicing (intein) site | PTM
|
| IPR009045 | Hedgehog_sig/DD-Pept_Zn-bd_dom | Hedgehog signalling region, N-terminal | Domain
|
| Blocks | IPB001657 | Sonic hedgehog protein signature | Sonic hedgehog protein signature |
| IPB001767 | Hedgehog protein | Hedgehog protein, hint region |
| IPB003586 | Hedgehog/Intein hint domain | Hedgehog/Intein hint domain, C-terminal |
| Disorder & Mutation |
| Source |
Disease |
| SWISS-PROT | Triphalangeal thumb-polysyndactyly syndrome (TPTPS) [MIM:174500]: Autosomal dominant syndrome. It is characterized by a wide spectrum of pre- and post-axial abnormalities due to altered SHH expression pattern during limb development. Note=The gene represented in this entry is involved in disease pathogenesis. Mutations located in intron 5 of LMBR1 disrupt a long-range, cis-regulatory element of SHH expression |
| SWISS-PROT | Solitary median maxillary central incisor (SMMCI) [MIM:147250]: Rare dental anomaly characterized by the congenital absence of one maxillary central incisor. Note=The disease is caused by mutations affecting the gene represented in this entry |
| SWISS-PROT | Holoprosencephaly 3 (HPE3) [MIM:142945]: A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. The majority of holoprosencephaly type 3 cases are apparently sporadic, although clear examples of autosomal dominant inheritance have been described. Note=The disease is caused by mutations affecting the gene represented in this entry |
| SWISS-PROT | Microphthalmia, isolated, with coloboma, 5 (MCOPCB5) [MIM:611638]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Note=The disease is caused by mutations affecting the gene represented in this entry |
