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Aliases for HMGCS1 Gene
Aliases for HMGCS1 Gene
External Ids for HMGCS1 Gene
- HGNC: 5007
- NCBI Entrez Gene: 3157
- Ensembl: ENSG00000112972
- OMIM®: 142940
- UniProtKB/Swiss-Prot: Q01581
Previous HGNC Symbols for HMGCS1 Gene
- HMGCS
Previous GeneCards Identifiers for HMGCS1 Gene
- GC05M043596
- GC05M044466
- GC05M043289
- GC05M043336
- GC05M043326
Summaries for HMGCS1 Gene
GeneCards Summary for HMGCS1 Gene
HMGCS1 (3-Hydroxy-3-Methylglutaryl-CoA Synthase 1) is a Protein Coding gene. Diseases associated with HMGCS1 include Fetal Akinesia Deformation Sequence 1. Among its related pathways are Valine, leucine and isoleucine degradation and Sterol Regulatory Element-Binding Proteins (SREBP) signalling. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and isomerase activity. An important paralog of this gene is HMGCS2.
UniProtKB/Swiss-Prot Summary for HMGCS1 Gene
-
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.
Additional gene information for HMGCS1 Gene
- HGNC (5007)
- NCBI Entrez Gene (3157)
- Ensembl (ENSG00000112972)
- OMIM® (142940)
- UniProtKB/Swiss-Prot (Q01581)
- Open Targets Platform(ENSG00000112972)
- Search for HMGCS1 at DataMed
- Search for HMGCS1 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HMGCS1 Gene
Genomics for HMGCS1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for HMGCS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around HMGCS1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HMGCS1
- Top Transcription factor binding sites by QIAGEN in the HMGCS1 gene promoter:
-
- AhR
- AML1a
- AREB6
- CBF(2)
- GCNF
- GCNF-1
- GCNF-2
- NF-Y
- RREB-1
- S8
Genomic Locations for HMGCS1 Gene
Latest Assembly
- chr5:43,287,470-43,313,512
- (GRCh38/hg38)
- Size:
- 26,043 bases
- Orientation:
- Minus strand
Previous Assembly
- chr5:43,287,572-43,313,514
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 25,943 bases
- Orientation:
- Minus strand
- chr5:43,289,497-43,313,614
- (GRCh37/hg19 by Ensembl)
- Size:
- 24,118 bases
- Orientation:
- Minus strand
Genomic View for HMGCS1 Gene
Genes around HMGCS1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5p12 by HGNC
- 5p12 by Entrez Gene
- 5p12 by Ensembl
HMGCS1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HMGCS1 Gene
Proteins for HMGCS1 Gene
-
Protein details for HMGCS1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q01581-HMCS1_HUMAN
- Recommended name:
- Hydroxymethylglutaryl-CoA synthase, cytoplasmic
- Protein Accession:
- Q01581
- B2RDL8
Protein attributes for HMGCS1 Gene
- Size:
- 520 amino acids
- Molecular mass:
- 57294 Da
- Quaternary structure:
-
- Homodimer.
- SequenceCaution:
-
- Sequence=AAH00297.2; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for HMGCS1 Gene
Selected DME Specific Peptides for HMGCS1 Gene
- Q01581:
-
- GKYTIGLG
- APDVFAENMK
- EHIPSPAKKVPR
- QCYLSALD
- VDGKLSIQCYL
- VQKSLAR
- LMQLFEESGNTD
- LIGPNAP
- GNARPTGG
- ESSSWDGRYA
- MQHAYDFYKPD
- VKLEDTYFDR
- TNACYGGTA
- DKSKSVK
- LFEGTWYLVRVDEKHRRTYARRP
- WDGRYALVV
- FPSQYVDQ
Post-translational modifications for HMGCS1 Gene
Other Protein References for HMGCS1 Gene
Antibodies for research
- LifeSpan BioSciences HMGCS1 / HMG-CoA Synthase 1 Antibody (LS-B4016) and HMGCS1 / HMG-CoA Synthase 1 Antibody (LS-B11977)
- G Biosciences Immunotag™ HMGCS1 Antibody
- GeneTex Anti-HMGCS1 antibody
-
Custom Antibody ServicesOriGene Antibodies for HMGCS1
- Novus Biologicals Antibodies for HMGCS1
-
Abcam antibodies for HMGCS1
- Invitrogen Antibodies for HMGCS1 (AFLGC-HMGCS1)
-
Boster Bio Antibodies for HMGCS1
-
Santa Cruz Biotechnology (SCBT) Antibodies for HMGCS1
- Sino Biological Antibodies for HMGCS1
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for HMGCS1
- Origene Custom Protein Services for HMGCS1
- ProSpec Recombinant Proteins for HMGCS1
-
Abcam proteins for HMGCS1
Assay products for research
Domains & Families for HMGCS1 Gene
Gene Families for HMGCS1 Gene
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for HMGCS1 Gene
- InterPro:
- Blocks:
-
- Hydroxymethylglutaryl-coenzyme A synthase
- ProtoNet:
Suggested Antigen Peptide Sequences for HMGCS1 Gene
- GenScript: Design optimal peptide antigens:
-
- 3-hydroxy-3-methylglutaryl coenzyme A synthase (HMCS1_HUMAN)
- 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (Soluble) (Q5XJ04_HUMAN)
- cDNA FLJ38173 fis, clone FCBBF1000053, highly similar to HYDROXYMETHYLGLUTARYL-COA SYNTHASE, CYTOPLASMIC (Q8N995_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q01581UniProtKB/Swiss-Prot:
HMCS1_HUMAN :- Belongs to the thiolase-like superfamily. HMG-CoA synthase family.
- Family:
-
- Belongs to the thiolase-like superfamily. HMG-CoA synthase family.
Function for HMGCS1 Gene
Molecular function for HMGCS1 Gene
- UniProtKB/Swiss-Prot 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=acetoacetyl-CoA + acetyl-CoA + H2O = (3S)-hydroxy-3-methylglutaryl-CoA + CoA + H(+); Xref=Rhea:RHEA:10188, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:43074, ChEBI:CHEBI:57286, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288; EC=2.3.3.10; Evidence={ECO:0000269|PubMed:7913309};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=29 uM for acetyl-CoA {ECO:0000269|PubMed:7913309}; Vmax=0.7 umol/min/mg enzyme for acetyl-CoA as substrate {ECO:0000269|PubMed:7913309};
- GENATLAS Biochemistry:
- 3-hydroxy-3-methylglutaryl-CoA synthase 1,cytoplasmic
Enzyme Numbers (IUBMB) for HMGCS1 Gene
Phenotypes From GWAS Catalog for HMGCS1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0004421 | hydroxymethylglutaryl-CoA synthase activity | IEA,TAS | -- |
| GO:0008144 | drug binding | IEA | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016746 | transferase activity, transferring acyl groups | IEA | -- |
Phenotypes for HMGCS1 Gene
- MGI mutant phenotypes for HMGCS1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for HMGCS1:
Animal Models for research
-
Taconic Biosciences Mouse Models for HMGCS1
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for HMGCS1 - Starting at $85 >
- * HMGCS1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for HMGCS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HMGCS1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HMGCS1
miRNA for HMGCS1 Gene
- miRTarBase miRNAs that target HMGCS1
-
- hsa-miR-335-5p (MIRT017138)
- hsa-miR-186-5p (MIRT021092)
- hsa-miR-192-5p (MIRT026269)
- hsa-miR-96-5p (MIRT027892)
- hsa-miR-19b-3p (MIRT031085)
- hsa-miR-18a-5p (MIRT031353)
- hsa-miR-1301-3p (MIRT035970)
- hsa-miR-769-3p (MIRT039071)
- hsa-miR-92a-3p (MIRT049260)
- hsa-let-7b-5p (MIRT052336)
- hsa-miR-3176 (MIRT052793)
- hsa-miR-210-3p (MIRT440491)
- hsa-miR-155-5p (MIRT440492)
- hsa-miR-2113 (MIRT493590)
- hsa-miR-1305 (MIRT493591)
- hsa-miR-607 (MIRT493592)
- hsa-miR-147b (MIRT493593)
- hsa-miR-23c (MIRT493594)
- hsa-miR-23b-3p (MIRT493595)
- hsa-miR-23a-3p (MIRT493596)
- hsa-miR-130a-5p (MIRT493597)
- hsa-miR-5087 (MIRT493598)
- hsa-miR-6506-3p (MIRT493599)
- hsa-miR-548s (MIRT567313)
- hsa-miR-3926 (MIRT567314)
- hsa-miR-202-3p (MIRT567315)
- hsa-miR-4670-3p (MIRT567316)
- hsa-miR-4797-5p (MIRT567317)
- hsa-miR-583 (MIRT567318)
- hsa-miR-8055 (MIRT667946)
- hsa-miR-1304-5p (MIRT667947)
- hsa-miR-6858-5p (MIRT667948)
- hsa-miR-4689 (MIRT667949)
- hsa-miR-3915 (MIRT667950)
- hsa-miR-1224-5p (MIRT667951)
- hsa-miR-4279 (MIRT667952)
- hsa-miR-6881-3p (MIRT667953)
- hsa-miR-4784 (MIRT667954)
- hsa-miR-3150b-3p (MIRT667955)
- hsa-miR-877-3p (MIRT667956)
- hsa-miR-660-3p (MIRT667957)
- hsa-miR-5193 (MIRT667958)
- hsa-miR-3184-3p (MIRT667959)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HMGCS1
- Browse OriGene Inhibitory RNA Products For HMGCS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HMGCS1
Clone products for research
- Applied Biological Materials (abm): Clones for HMGCS1 - Starting at $45 >
- * HMGCS1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for HMGCS1
- Addgene plasmids for HMGCS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HMGCS1
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HMGCS1 Gene
Localization for HMGCS1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HMGCS1 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 4 |
| plasma membrane | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| endoplasmic reticulum | 2 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
- Nucleoplasm (3)
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | TAS | 7913309 |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for HMGCS1 Gene
Pathways by source for HMGCS1 Gene
8 BioSystems pathways for HMGCS1 Gene
8 Reactome pathways for HMGCS1 Gene
1 PharmGKB pathway for HMGCS1 Gene
6 KEGG pathways for HMGCS1 Gene
1 Cell Signaling Technology pathway for HMGCS1 Gene
UniProtKB/Swiss-Prot Q01581-HMCS1_HUMAN
- Pathway: Metabolic intermediate biosynthesis; (R)-mevalonate biosynthesis; (R)-mevalonate from acetyl-CoA: step 2/3.
Interacting Proteins for HMGCS1 Gene
GPS-Prot Interaction Network for HMGCS1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001889 | liver development | IEA | -- |
| GO:0006084 | acetyl-CoA metabolic process | IBA | 21873635 |
| GO:0006629 | lipid metabolic process | NAS | 7913309 |
| GO:0006694 | steroid biosynthetic process | IEA | -- |
| GO:0006695 | cholesterol biosynthetic process | TAS | -- |
No data available for SIGNOR curated interactions for HMGCS1 Gene
Drugs & Compounds for HMGCS1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Water | Approved | Pharma | 0 | |||
| (7R,12R,13R)-13-formyl-12,14-dihydroxy-3,5,7-trimethyltetradeca-2,4-dienoic acid | Experimental | Pharma | Target | 0 | ||
| Acetoacetyl-CoA | Experimental | Pharma | 0 | |||
| Coenzyme A | Investigational | Nutra | 0 | |||
| (S)-3-hydroxy-3-methylglutaryl-CoA | Pharma | Inhibitor, Feedback inhibition | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 3-hydroxy-3-methylglutaryl-coa |
|
26926-09-0 |
|
|||
| acetyl-coa |
|
72-89-9 |
|
Transcripts for HMGCS1 Gene
mRNA/cDNA for HMGCS1 Gene
- 9 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000325110 5350 nts (view in UCSC)
- ENST00000433297 3466 nts (view in UCSC)
- ENST00000507004 950 nts (view in UCSC)
- ENST00000507293 708 nts (view in UCSC)
- ENST00000508319 591 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for HMGCS1 - Starting at $85 >
- * HMGCS1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for HMGCS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HMGCS1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HMGCS1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HMGCS1
- Browse OriGene Inhibitory RNA Products For HMGCS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HMGCS1
Clone products for research
- Applied Biological Materials (abm): Clones for HMGCS1 - Starting at $45 >
- * HMGCS1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for HMGCS1
- Addgene plasmids for HMGCS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HMGCS1
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - |
Relevant External Links for HMGCS1 Gene
- GeneLoc Exon Structure for
- HMGCS1
Expression for HMGCS1 Gene
This gene is overexpressed in Fetal Liver (13.2), Cervix (9.7), Fetal testis (7.6), and Fetal Brain (7.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HMGCS1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HMGCS1
SOURCE GeneReport for Unigene cluster for HMGCS1 Gene:
Hs.397729Evidence on tissue expression from TISSUES for HMGCS1 Gene
- Nervous system(4.8)
- Liver(4.8)
- Lung(4.5)
- Adrenal gland(4.4)
- Heart(2.9)
- Skin(2.7)
- Muscle(2.6)
- Kidney(2.6)
- Intestine(2.5)
- Blood(2.5)
- Stomach(2.3)
- Gall bladder(2.2)
- Thyroid gland(2.1)
- Spleen(2)
Primer products for research
-
OriGene qPCR primer pairs for HMGCS1
-
OriGene qPCR primer pairs and template standards for HMGCS1
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HMGCS1 Gene
Orthologs for HMGCS1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | HMGCS1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
| HMGCS1 30 |
|
||||
| -- 31 |
|
OneToMany | |||
| Oppossum (Monodelphis domestica) |
Mammalia | HMGCS1 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | HMGCS1 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | HMGCS1 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Hmgcs1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Hmgcs1 30 17 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | HMGCS1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | HMGCS1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hmgcs1 30 |
|
||
| Str.15315 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | hmgcs1-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | hmgcs1 30 31 |
|
OneToOne | |
| zgc56481 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Hmgs 30 31 32 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005847 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | hmgs-1 31 |
|
OneToMany | |
| F25B4.6 32 |
|
|
|||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D10505g 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ERG13 30 31 33 |
|
OneToMany | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADL356C 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | MVA1 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os03g0118800 30 |
|
||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.4542 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU03922 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | hcs1 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9481 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.13852 30 |
|
- Species where no ortholog for HMGCS1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for HMGCS1 Gene
- ENSEMBL:
- Gene Tree for HMGCS1 (if available)
- TreeFam:
- Gene Tree for HMGCS1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for HMGCS1: view image
Paralogs for HMGCS1 Gene
(1) SIMAP similar genes for HMGCS1 Gene using alignment to 3 proteins:
- HMCS1_HUMAN
- D6RIW1_HUMAN
- Q5XJ04_HUMAN
Pseudogenes.org Pseudogenes for HMGCS1 Gene
Variants for HMGCS1 Gene
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
30.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.14;
23.14% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for HMGCS1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HMGCS1
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HMGCS1 Gene
Disorders for HMGCS1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| fetal akinesia deformation sequence 1 |
|
|
Search HMGCS1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for HMGCS1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for HMGCS1 Gene
Publications for HMGCS1 Gene
- Crystal structures of human HMG-CoA synthase isoforms provide insights into inherited ketogenesis disorders and inhibitor design. (PMID: 20346956) Shafqat N … Yue WW (Journal of molecular biology 2010) 3 4 23
- Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y … Boer JM (Journal of lipid research 2008) 3 41
- Transcriptional regulation of HMG-CoA synthase and HMG-CoA reductase genes by human ACBP. (PMID: 19088433) Vock C … Nitz I (Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2008) 3 23
- Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma. (PMID: 18636124) Skibola CF … Smith MT (PloS one 2008) 3 41
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
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Sources for HMGCS1 Gene
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