Free for academic non-profit institutions. Other users need a Commercial license
HMGCLL1 (3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase Like 1) is a Protein Coding gene. Diseases associated with HMGCLL1 include 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency and Breast Adenoid Cystic Carcinoma. Among its related pathways are Metabolism and Butanoate metabolism. Gene Ontology (GO) annotations related to this gene include lyase activity and hydroxymethylglutaryl-CoA lyase activity. An important paralog of this gene is HMGCL.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH06J055578 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE CraniofacialAtlas | 614.1 | +28.5 | 28472 | 1.4 | PRDM10 ZNF629 KDM1A ZNF692 ZIC2 POLR2A PATZ1 ZNF501 ZNF600 ZNF341 | HMGCLL1 HSALNG0050757 GFRAL | |
GH06J055635 | Enhancer | 0.8 | Ensembl ENCODE | 11 | -29.1 | -29074 | 3.2 | CEBPG ZHX2 FOXA1 ZBTB44 SP1 CEBPB CTBP1 FOS CHD1 ZNF217 | HMGCLL1 ENSG00000224984 piR-41880-024 ENSG00000220725 lnc-BMP5-1 BMP5 | |
GH06J055704 | Enhancer | 0.6 | Ensembl ENCODE | 10.7 | -97.2 | -97228 | 1.6 | FOS JUN JUND BATF | HMGCLL1 piR-46002-485 BMP5 | |
GH06J055553 | Enhancer | 0.2 | FANTOM5 | 11.6 | +53.7 | 53710 | 0.1 | HMGCLL1 HSALNG0050757 GFRAL | ||
GH06J055556 | Enhancer | 0.2 | Ensembl | 12.1 | +50.3 | 50272 | 0.2 | HMGCLL1 HSALNG0050757 GFRAL |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0004419 | hydroxymethylglutaryl-CoA lyase activity | IEA,ISS | -- |
GO:0016829 | lyase activity | IEA | -- |
GO:0046872 | metal ion binding | TAS | 22865860 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005783 | endoplasmic reticulum | IBA,IDA | 22847177 |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0016020 | membrane | IEA,IDA | 22865860 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
.40
|
|
2 | Butanoate metabolism | ||
3 | Valine, leucine and isoleucine degradation | ||
4 | Ketone body metabolism | ||
5 | Peroxisome |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006552 | leucine catabolic process | IBA | 21873635 |
GO:0006629 | lipid metabolic process | IBA | 21873635 |
GO:0046951 | ketone body biosynthetic process | IEA,TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Acetoacetic acid | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
(R)-3-Hydroxybutyric acid |
|
625-72-9 | ||||
3-hydroxy-3-methylglutaryl-coa |
|
1553-55-5 |
|
|||
acetyl-coa |
|
72-89-9 |
|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HMGCLL1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HMGCLL1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HMGCLL1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Hmgcll1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hmgcll1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | HMGCLL1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | HMGCLL1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HMGCLL1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HMGCLL1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hmgcll1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | hmgcll1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG10399 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | Y71G12B.10 31 |
|
OneToMany | |
Rice (Oryza sativa) |
Liliopsida | Os12g0134000 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
Disorder | Aliases | PubMed IDs |
---|---|---|
3-hydroxy-3-methylglutaryl-coa lyase deficiency |
|
|
breast adenoid cystic carcinoma |
|
|
hepatic infarction |
|
|