HHAT - hedgehog acyltransferase Gene

Also Known as Skn; NNMS; SKI1; MART2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55733

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
involved in N-terminal peptidyl-L-cysteine N-palmitoylation IMP
IMP: Inferred from mutant phenotype
18534984 GOA
Cellular Component GO Annotation Evidence References 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

MBOAT: MBOAT, membrane-bound O-acyltransferase family (130 - 441)

  • 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

Pre-clinical Phase

Bioactive Molecules (8)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-18366A RU-SKI 43 hydrochloride Inhibitor 98.81% Unkown
HY-18366 RU-SKI 43 Inhibitor / Unkown
HY-123781A RUSKI-201 dihydrochloride Inhibitor 98.20% Unkown
HY-161175 IMP-1575 Inhibitor / Unkown
HY-RS06157 HHAT Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-123781 RUSKI-201 Inhibitor / Unkown
HY-RS20752 Hhat Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27264 Hhat Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others HHAT NCBI