HHAT Gene Summary [Human]

'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]

Details

Type
Protein Coding
Official Symbol
HHAT
Official Name
hedgehog acyltransferase [Source:HGNC Symbol;Acc:HGNC:18270]
Ensembl ID
ENSG00000054392
Bio databases IDs NCBI: 55733 Ensembl: ENSG00000054392
Aliases hedgehog acyltransferase, protein-cysteine N-palmitoyltransferase HHAT
Synonyms 2810432O22Rik, AP-2CRE, FLJ10724, hedgehog acyltransferase, MART2, NNMS, RGD1311746, SKI1, Skn, Tg(TFAP2A-cre)1Will
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HHAT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • palmitoyltransferase
  • MBOAT, membrane-bound O-acyltransferase family
  • enzyme
  • protein binding
  • O-acyltransferase

Pathways

Biological processes and signaling networks where the HHAT gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • schizophrenia
  • ankylosing spondylitis
  • ischemic stroke
  • hereditary disorder
  • Nivelon-Nivelon-Mabille syndrome
  • cleft lip
  • myopia
  • headache
  • hyperopia
  • disproportionate dwarfism
regulated by
regulates
  • WNT
  • hedgehog
role in cell
  • number

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Golgi Apparatus
  • Endoplasmic Reticulum
  • endoplasmic reticulum membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human HHAT gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • N-terminal peptidyl-L-cysteine N-palmitoylation
  • smoothened signaling pathway
  • protein palmitoylation

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • endoplasmic reticulum
  • Golgi membrane
  • Golgi apparatus

Molecular Function

What the gene product does at the molecular level
  • GTP binding
  • protein binding
  • O-acyltransferase activity
  • palmitoyltransferase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.