HHAT

HHAT
Identifiers
Aliases	HHAT, MART2, SKI1, Skn, hedgehog acyltransferase, NNMS
External IDs	OMIM: 605743; MGI: 2444681; GeneCards: HHAT
Gene location (Human)
Chr.	Chromosome 1 (human)
End	210,676,296 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	192,453,531 bp
RNA expression pattern
	Top expressed in
	testicle; ; olfactory zone of nasal mucosa; ; gonad; ; right adrenal cortex; ; left adrenal gland; ; stromal cell of endometrium; ; left adrenal cortex; ; right uterine tube; ; gallbladder; ; islet of Langerhans;
	Top expressed in
	lumbar spinal ganglion; ; zygote; ; tail of embryo; ; secondary oocyte; ; genital tubercle; ; primary oocyte; ; embryo; ; calvaria; ; renal corpuscle; ; cumulus cell;
	More reference expression data
	n/a
Gene ontology
Molecular function	acyltransferase activity; nucleotide binding; palmitoyltransferase activity; GTP binding; transferase activity; O-acyltransferase activity;
Cellular component	endoplasmic reticulum membrane; membrane; integral component of membrane; endoplasmic reticulum;
Biological process	smoothened signaling pathway; multicellular organism development; protein palmitoylation;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	55733
	226861
	ENSG00000054392; ENSG00000280680
	ENSMUSG00000037375
	Q5VTY9
	Q8BMT9
NM_001122834; NM_001170564; NM_001170580; NM_001170587; NM_001170588;
	NM_018194
	NM_144881
NP_001116306; NP_001164035; NP_001164051; NP_001164058; NP_001164059;
	NP_060664
	NP_659130
	Wikidata
View/Edit Human	View/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 2 3 ENSG00000280680 GRCh38: Ensembl release 89: ENSG00000054392, ENSG00000280680 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000037375 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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)

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 ENSG00000280680 GRCh38: Ensembl release 89: ENSG00000054392, ENSG00000280680 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid11160356-5] 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.

[pmid11486055-7] 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.

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v t e Signaling pathway: hedgehog signaling pathway
Ligands	Sonic hedgehog Indian hedgehog Desert hedgehog
Receptor	Patched Smoothened
Transcription factor	GLI1 GLI2 GLI3
Other	HHIP HHAT

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References

External links