HHAT - hedgehog acyltransferase Gene

Homo sapiens

Also known as Skn; NNMS; SKI1; MART2

Gene ID: 55733 | Gene type: protein coding

About HHAT

Cytogenetic location: 1q32.2 Genomic coordinates (GRCh38): 1:210,327,328-210,676,290 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 210 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 3.0), gall bladder (RPKM 1.6) and 25 other tissues.

Summary

'Skinny hedgehog' (SKI1) encodes an Enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002]

HHAT Products(6)

mRNA	Protein	Name
NM_001122834.4	NP_001116306.1	protein-cysteine N-palmitoyltransferase HHAT isoform 1
NM_001170564.3	NP_001164035.1	protein-cysteine N-palmitoyltransferase HHAT isoform 2
NM_001170580.3	NP_001164051.1	protein-cysteine N-palmitoyltransferase HHAT isoform 1
NM_001170587.3	NP_001164058.1	protein-cysteine N-palmitoyltransferase HHAT isoform 4
NM_001170588.3	NP_001164059.1	protein-cysteine N-palmitoyltransferase HHAT isoform 3
NM_018194.6	NP_060664.2	protein-cysteine N-palmitoyltransferase HHAT isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in N-terminal peptidyl-L-cysteine N-palmitoylation	IMP IMP: Inferred from mutant phenotype	18534984	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	18534984	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	18534984	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HHAT Protein Structure

MBOAT

0
100
200
300
400
493 a.a.

Protein Preferred Names

Protein Names

protein-cysteine N-palmitoyltransferase HHAT

melanoma antigen recognized by T-cells 2

Related Diseases

Diseases

Alias

Nivelon-Nivelon-Mabille Syndrome

Chondrodysplasia-Pseudohermaphroditism Syndrome	NNMS
Chondrodysplasia-Disorder Of Sex Development Syndrome	Nivelon Nivelon Mabille Syndrome

Ancylostomiasis

Ankylostomiasis	Hookworm Infection
Hookworm Infections	Ancylostomiasis Due To Ancylostoma Duodenale
Ancylostoma Duodenale Infection

Gonadal Dysgenesis

Gonadal Dysgenesis Syndrome

Turner Syndrome

Allergic Bronchopulmonary Aspergillosis

Aspergillosis, Allergic Bronchopulmonary	Abpa
Allergic Bronchopulmonary Mycosis	Hinson-Pepys Disease
Pulmonary Aspergillus Disease	Allergic Aspergillosis
Aspergillosis Allergic Bronchopulmonary

Cutaneous Ganglioneuroma

Ganglioneuroma Of Skin

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Melanoma

Malignant Melanoma	Cutaneous Melanoma
Naevocarcinoma	Malignant Melanomas

Basal Cell Nevus Syndrome

Nevoid Basal Cell Carcinoma Syndrome	Gorlin Syndrome
Nbccs	BCNS
Gorlin-Goltz Syndrome	Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
Cerebral Gigantism Jaw Cysts	Cramer Niederdellmann Syndrome
Gorlin Syndrome Or Gorlin-Goltz Syndrome	Naevoid Basal Cell Carcinoma Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-18366A	RU-SKI 43 hydrochloride	Inhibitor	99.55%	Unkown
HY-18366	RU-SKI 43	Inhibitor	/	Unkown
HY-123781A	RUSKI-201 dihydrochloride	Inhibitor	/	Unkown
HY-161175	IMP-1575	Inhibitor	/	Unkown
HY-RS06157	HHAT Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-123781	RUSKI-201	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	HHAT	VGNC	VGNC:62807
Mus musculus	HHAT	MGD	MGI:2444681
Rattus norvegicus	HHAT	RGD	RGD:1311746
Bos taurus	HHAT	VGNC	VGNC:106767
Canis familiaris	HHAT	VGNC	VGNC:41679
Macaca mulatta	HHAT	VGNC	VGNC:99968

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