HACD1 Gene Summary [Human]
The protein encoded by this gene contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression was observed in other tissues. The tissue specific expression in the developing and adult heart suggests a role in regulating cardiac development and differentiation. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | HACD1 |
| Official Name | 3-hydroxyacyl-CoA dehydratase 1 [Source:HGNC Symbol;Acc:HGNC:9639] |
| Ensembl ID | ENSG00000165996 |
| Bio databases IDs | |
| Aliases | 3-hydroxyacyl-CoA dehydratase 1, cementum attachment protein, Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 |
| Synonyms | 3-hydroxyacyl-CoA dehydratase 1, CMYO11, CMYP11, LOC683916, MYONP, PTPLA |
| Species | Human, Homo sapiens |
| Orthologies |
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 HACD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 3-hydroxyacyl-CoA dehydratase
- enzyme binding
- enzyme
- protein binding
- Protein tyrosine phosphatase-like protein, PTPLA
- hydroxyapatite binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- congenital myopathy type 11
- myopathy
- congenital myopathy
- arrhythmogenic right ventricular cardiomyopathy
- Rett syndrome
regulates
- 3-hydroxy acyl coenzyme a
- trans-2,3-dehydroacyl-coenzyme A
- enzyme
- fatty acid
- sphingolipid
- very long chain fatty acid
- d18:1/18:0 beta-hydroxy ceramide
- protein-protein complex
role in cell
- growth
- differentiation
- attachment
- fusion
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
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HACD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- long-chain fatty-acyl-CoA biosynthetic process
- fatty acid elongation
- very long-chain fatty acid biosynthetic process
- sphingolipid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
Molecular Function
What the gene product does at the molecular level
- 3-hydroxyacyl-CoA dehydratase activity
- protein binding