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General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| SHH | 6469 | Sonic hedgehog homolog (Drosophila) | 7 | TPT; HHG1; HLP3; HPE3; SMMCI; TPTPS; MCOPCB5 |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 16473672 | 2006 | Cell line : - Source : Municipal Hospital of Badalona, Spain. Sample Type : - No. of Sample : 57 colorectal cancer patients Stage : - | real time RT-PCR | Up-regulation | - | Shh expression levels were higher in tumor tissue than in normal tissue from the same patient. Higher levels of Shh expression were associated with early stage disease. Shh overexpression may influence the development of colorectal cancer. |
| 16701100 | 2006 | Cell line : - Source : - Sample Type : - No. of Sample : - Stage : - | RT-PCR | Up-regulation | - | Increased expression of SHh mRNA in human colonic adenocarcinomas and in a colorectal cell line with downstream increased expression of GLI1 and FOXM1 mRNA known to promote cell proliferation. This upregulation within human colorectal adenocarcinoma tissue confirms the potential role of the Hh pathway in colorectal carcinogenesis and suggests a potential therapeutic target of Hh blockade in colorectal cancer.
The study population consisted of 44 consecutive patients with colorectal cancer. |
| 22930170 | 2012 | Cell line : KM 12C, KM 12SM, HT 29 Source : ATCC Sample Type : - No. of Sample : - Stage : - | Microarray analysis,Real time RT-PCR and Flow cytometry | Up-regulation | - | Gene differentially expressed and analysed bye by Microarray |
| 15170664 | 2004 | Cell line : AA/C1, RG/C2 , CaCo 2, HT 29 ,SW 480 Source : ATCC Sample Type : - No. of Sample : - Stage : - | RT-PCR, Western blotting , Treatment with cyclopamine | Up-regulation | - | - |
| 19856079 | 2010 | Cell line : HCT 8, SW 1116, SW 480, Lovo Source : ATCC, Southern Hospital. Sample Type : CRC tumor and normal tissue No. of Sample : 25 Stage : - | real time RT-PCR, Bisulfite modification and bisulfite sequencing PCR, Methylation-specific PCR | Up-regulation | - | SHH overexpression, possible consequence of promoter hypomethylation, could play a role in the carcinogenesis of primary CRCs. |
| 20854074 | 2010 | Cell line : - Source : - Sample Type : CRC tumor and normal tissue No. of Sample : 36 CRCs, compared to 21 hyperplastic polyps and 32 colorectal adenomas Stage : - | RT-PCR, Immunohistochemistry | Up-regulation | - | SHH hypomethylation could lead to the SHH dependent activation of Hh pathway in CRCs. On the other hand, down-regulation of IHH expression as a result of hypermethylation, may be an early event in colorectal carcinogenesis. Expressions of SHH and GLI1 proteins were increased significantly in CRCs compared with those in hyperplastic polyps and colorectal adenomas. |
| 21455990 | 2011 | Cell line : - Source : Royal London Hospital. Sample Type : CRC tumor and normal tissue No. of Sample : 170 Stage : - | Microarray, methylation specific PCR | Up-regulation | - | Hypomethylation of a CpG locus within the sonic hedgehog (SHH) promoter correlated with increased gene expression and was associated significantly with MACS cancers. |
| 22901214 | 2012 | Cell line : - Source : Department of Gastroenterological Surgery of this hospital. Sample Type : CRC tumor and normal tissue No. of Sample : 43 CRC patients and Normal colorectal tissues 20 Stage : - | RT-PCR, Immunohistochemistry | Up-regulation | 12.8 | - |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | - |
| Description | This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. The protein is made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. [provided by RefSeq, Jul 2008] | Chromosome | 7 |
| Location | 7q36 |
| Start | 155802864 |
| End | 155812273 |
| Strand | - |
| Gene Sequence | Download Select all |
| Length | 9410 |
| OMIM ID | 600725 |
| HGNC ID | HGNC:10848 |
| Unigene ID | Hs.164537 |
| Ensembl ID | ENSG00000164690 |
| PharmGKB ID | - |
mRNA Information
| mRNA ID | NM_000193.2 |
|---|---|
| Exon | join(1..451,5717..5978,8548..9410) | mRNA Sequence | Download Select all |
| Length | 1576 |
CDS Information
| Location | join(152..451,5717..5978,8548..9374) |
|---|---|
| CDS Sequence | Download Select all |
| CCDS ID | CCDS5942.1 |
Protein Information
| Protein ID | NP_000184.1 |
|---|---|
| Protein Name | Sonic hedgehog homolog (Drosophila) |
| Molecular Wt. (Da) | 47224 |
| Protein Sequence | Download Select all |
| Length | 462 |
| Uniprot ID | P08684 |
| Ensembl Protein ID | ENSP00000337915 |
Post-translational Modification Information (Source : HPRD)
No matching records could be found.
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 116 | ADCYAP1 | 2369 | NP_001108.2 | in vitro | 12417650 |
| 64399 | HHIP | 6937 | NP_071920.1 | in vivo | 10050855 |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Basal cell carcinoma | hsa05217 |
| Hedgehog signaling pathway | hsa04340 |
| Pathways in cancer | hsa05200 |
Structure Information
| PDB ID | 2HZP |
|---|---|
| Resolution | 2 |
| Method | X-RAY DIFFRACTION |
| Chains | A |
| Molecule | Kynureninase |
| Model | View |
Domain Information
| ID | Location | Description |
|---|---|---|
| cd00081 | 198-363 | Hint |
| cl22434 | 198-363 | Hint superfamily |
| pfam01085 | 39-184 | HH_signal |
| cl03090 | 39-184 | HH_signal superfamily |
| smart00306 | 197-318 | HintN |
| smart00305 | 324-368 | HintC |
| cl22898 | 324-368 | HintC superfamily |
| pfam01079 | 187-448 | Hint |
Ontology Information
| HPRD ID | 522 |
|---|---|
| Molecular Class | Ligand |
| Molecular Function | Catalytic activity (GO:0003824) |
| Biological Process | Metabolism (GO:0008152); Energy pathways (GO:0006091) |
Drug Information
No matching records could be found.