HMGCS1 (3-hydroxy-3-methylglutaryl-CoA synthase 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 3157 |
| Gene name | 3-hydroxy-3-methylglutaryl-CoA synthase 1 |
| Gene symbol | HMGCS1 |
| Synonyms (NCBI Gene) |
HMGCS
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| Chromosome | 5 |
| Chromosome location | 5p12 |
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miRNA
miRNA information provided by mirtarbase database.
987
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Transcription factors
Transcription factors information provided by TRRUST V2 database.
1
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q01581 | |||||||||||||||
| Protein name | Hydroxymethylglutaryl-CoA synthase, cytoplasmic (HMG-CoA synthase) (EC 2.3.3.10) (3-hydroxy-3-methylglutaryl coenzyme A synthase) | |||||||||||||||
| Protein function | Catalyzes the condensation of acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is converted by HMG-CoA reductase (HMGCR) into mevalonate, a precursor for cholesterol synthesis. | |||||||||||||||
| PDB | 2P8U | |||||||||||||||
| Family and domains |
Pfam
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| Sequence | ||||||||||||||||
| Sequence length | 520 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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