HHAT

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HHAT
Identifiers
AliasesHHAT, MART2, SKI1, Skn, hedgehog acyltransferase, NNMS
External IDsOMIM: 605743; MGI: 2444681; GeneCards: HHAT
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

55733

226861

Ensembl

ENSG00000054392
ENSG00000280680

ENSMUSG00000037375

UniProt

Q5VTY9

Q8BMT9

RefSeq (mRNA)

NM_144881

RefSeq (protein)

NP_659130

Location (UCSC)Chr 1: 210.33 – 210.68 MbChr 1: 192.18 – 192.45 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Hedgehog acyltransferase (HHAT), also called skinny hedgehog homology in humans, is a protein that in humans is encoded by the gene HHAT.[5][6]

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.[7]

References

  1. ENSG00000280680 GRCh38: Ensembl release 89: ENSG00000054392, ENSG00000280680 – Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000037375 – Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. "OMIM Entry - * 605743 - HEDGEHOG ACYLTRANSFERASE; HHAT". www.omim.org. Retrieved 2017-02-20.
  7. 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.