HHAT
Hedgehog acyltransferase (HHAT), also called skinny hedgehog homology in humans, is a human gene.[1][2]
| hedgehog acyltransferase | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | HHAT | ||||||
| Alt. symbols | FLJ10724, MART-2, MART2, GUP2 | ||||||
| NCBI gene | 55733 | ||||||
| HGNC | 18270 | ||||||
| OMIM | 605743 | ||||||
| RefSeq | NM_018194 | ||||||
| UniProt | Q5VTY9 | ||||||
| Other data | |||||||
| EC number | 2.3.1.- | ||||||
| Locus | Chr. 1 q32 | ||||||
| |||||||
The HHAT gene encodes an enzyme that catalyzes N-terminal palmitoylation of sonic hedgehog. Mutations in HHAT produce a phenotype that is similar to loss of hedgehog function. Finally the HHAT protein shares a short but significant sequence similarity to membrane-bound O-acyltransferases.[3]
References
- Kawakami Y, Wang X, Shofuda T, Sumimoto H, Tupesis J, Fitzgerald E, Rosenberg S (February 2001). "Isolation of a new melanoma antigen, MART-2, containing a mutated epitope recognized by autologous tumor-infiltrating T lymphocytes". J. Immunol. 166 (4): 2871–7. doi:10.4049/jimmunol.166.4.2871. PMID 11160356.
- "OMIM Entry - * 605743 - HEDGEHOG ACYLTRANSFERASE; HHAT". www.omim.org. Retrieved 2017-02-20.
- Chamoun Z, Mann RK, Nellen D, von Kessler DP, Bellotto M, Beachy PA, Basler K (September 2001). "Skinny hedgehog, an acyltransferase required for palmitoylation and activity of the hedgehog signal". Science. 293 (5537): 2080–4. Bibcode:2001Sci...293.2080C. doi:10.1126/science.1064437. PMID 11486055. S2CID 39594965.
External links
- HHATL protein, human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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