- Desert hedgehog protein
-
Desert hedgehog
Rendering based on PDB 2WFQ.Available structures PDB 2WFQ, 2WFR, 2WG3, 3N1G, 3N1Q Identifiers Symbols DHH; HHG-3; MGC35145 External IDs OMIM: 605423 MGI: 94891 HomoloGene: 22431 GeneCards: DHH Gene Gene Ontology Molecular function • calcium ion binding
• peptidase activity
• zinc ion bindingCellular component • extracellular region
• extracellular space
• plasma membraneBiological process • proteolysis
• cell-cell signaling
• spermatid development
• cell cycle process
• male sex determination
• response to estradiol stimulus
• Leydig cell differentiation
• myelination
• regulation of steroid biosynthetic processSources: Amigo / QuickGO RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 50846 13363 Ensembl ENSG00000139549 ENSMUSG00000023000 UniProt O43323 Q544P6 RefSeq (mRNA) NM_021044 NM_007857.4 RefSeq (protein) NP_066382 NP_031883.1 Location (UCSC) Chr 12:
49.48 – 49.49 MbChr 15:
98.72 – 98.73 MbPubMed search [1] [2] Desert hedgehog protein is a protein that in humans is encoded by the DHH gene.[1][2][3]
Contents
Function
Desert hedgehog protein is a member of the Hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be 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 organism.[3]
Clinical significance
Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development.[3]
References
- ^ Tate G, Satoh H, Endo Y, Mitsuya T (Jun 2000). "Assignment of desert hedgehog (DHH) to human chromosome bands 12q12→q13.1 by in situ hybridization". Cytogenet Cell Genet 88 (1-2): 93–4. doi:10.1159/000015495. PMID 10773676.
- ^ Kamisago M, Kimura M, Furutani Y, Furutani M, Takao A, Momma K, Matsuoka R (May 2000). "Assignment of human desert hedgehog gene (DHH) to chromosome band 12q13.1 by in situ hybridization". Cytogenet Cell Genet 87 (1-2): 117–8. doi:10.1159/000015376. PMID 10640830.
- ^ a b c "Entrez Gene: DHH desert hedgehog homolog (Drosophila)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=50846.
Further reading
- Matsui Y (1998). "Regulation of germ cell death in mammalian gonads.". APMIS 106 (1): 142–7; discussion 147–8. doi:10.1111/j.1699-0463.1998.tb01329.x. PMID 9524572.
- Umehara F, Tate G, Itoh K, Osame M (2002). "Minifascicular neuropathy: a new concept of the human disease caused by desert hedgehog gene mutation.". Cell. Mol. Biol. (Noisy-le-grand) 48 (2): 187–9. PMID 11990454.
- Echelard Y, Epstein DJ, St-Jacques B, et al. (1994). "Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity.". Cell 75 (7): 1417–30. doi:10.1016/0092-8674(93)90627-3. PMID 7916661.
- Bitgood MJ, Shen L, McMahon AP (1997). "Sertoli cell signaling by Desert hedgehog regulates the male germline.". Curr. Biol. 6 (3): 298–304. doi:10.1016/S0960-9822(02)00480-3. PMID 8805249.
- Carpenter D, Stone DM, Brush J, et al. (1998). "Characterization of two patched receptors for the vertebrate hedgehog protein family.". Proc. Natl. Acad. Sci. U.S.A. 95 (23): 13630–4. doi:10.1073/pnas.95.23.13630. PMC 24870. PMID 9811851. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=24870.
- Chuang PT, McMahon AP (1999). "Vertebrate Hedgehog signalling modulated by induction of a Hedgehog-binding protein.". Nature 397 (6720): 617–21. doi:10.1038/17611. PMID 10050855.
- Umehara F, Tate G, Itoh K, et al. (2000). "A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy.". Am. J. Hum. Genet. 67 (5): 1302–5. doi:10.1016/S0002-9297(07)62958-9. PMC 1288570. PMID 11017805. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1288570.
- Bak M, Hansen C, Friis Henriksen K, Tommerup N (2001). "The human hedgehog-interacting protein gene: structure and chromosome mapping to 4q31.21→q31.3.". Cytogenet. Cell Genet. 92 (3-4): 300–3. doi:10.1159/000056918. PMID 11435703.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Hori Y, Gu X, Xie X, Kim SK (2006). "Differentiation of insulin-producing cells from human neural progenitor cells.". PLoS Med. 2 (4): e103. doi:10.1371/journal.pmed.0020103. PMC 1087208. PMID 15839736. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1087208.
- Canto P, Vilchis F, Söderlund D, et al. (2006). "A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis.". Mol. Hum. Reprod. 11 (11): 833–6. doi:10.1093/molehr/gah216. PMID 16390857.
External Links
Categories:- Human proteins
- Chromosome 12 gene stubs
Wikimedia Foundation. 2010.