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Aliases for HMGCLL1 Gene
Aliases for HMGCLL1 Gene
- Endoplasmic Reticulum 3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase 3
- 3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase-Like Protein 1 3
- 3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase, Cytoplasmic 3
- Probable 3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase 2 3
- 3-Hydroxy-3-Methylglutaryl-CoA Lyase, Cytoplasmic 4
- DKFZP434G1411 2
- HMGCLL1 5
External Ids for HMGCLL1 Gene
- HGNC: 21359
- Entrez Gene: 54511
- Ensembl: ENSG00000146151
- UniProtKB: Q8TB92
Previous GeneCards Identifiers for HMGCLL1 Gene
- GC06M055300
- GC06M055346
- GC06M055133
- GC06M055299
Summaries for HMGCLL1 Gene
GeneCards Summary for HMGCLL1 Gene
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.
UniProtKB/Swiss-Prot Summary for HMGCLL1 Gene
-
Non-mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis, the products of which support energy production in nonhepatic animal tissues.
Additional gene information for HMGCLL1 Gene
- HGNC(21359)
- Entrez Gene(54511)
- Ensembl(ENSG00000146151)
- UniProtKB(Q8TB92)
- Open Targets Platform(ENSG00000146151)
- Search for HMGCLL1 at DataMed
- Search for HMGCLL1 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 HMGCLL1 Gene
Genomics for HMGCLL1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for HMGCLL1 Gene
| 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 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around HMGCLL1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HMGCLL1
- Top Transcription factor binding sites by QIAGEN in the HMGCLL1 gene promoter:
-
- C/EBPalpha
- Gfi-1
- Hlf
- NF-1
- NF-1/L
- NF-kappaB
- NF-kappaB1
- Pax-5
- PPAR-gamma1
- PPAR-gamma2
Genomic Locations for HMGCLL1 Gene
Genomic Locations for HMGCLL1 Gene
- chr6:55,434,369-55,607,573
- (GRCh38/hg38)
- Size:
- 173,205 bases
- Orientation:
- Minus strand
- chr6:55,299,167-55,444,012
- (GRCh37/hg19)
- Size:
- 144,846 bases
- Orientation:
- Minus strand
Genomic View for HMGCLL1 Gene
Genes around HMGCLL1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p12.1 by HGNC
- 6p12.1 by Entrez Gene
- 6p12.1 by Ensembl
HMGCLL1 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 HMGCLL1 Gene
Proteins for HMGCLL1 Gene
-
Protein details for HMGCLL1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8TB92-HMGC2_HUMAN
- Recommended name:
- 3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic
- Protein Accession:
- Q8TB92
- B1AQ42
- B3KNV0
- B7Z1S7
- F8W793
- Q6ZSA9
Protein attributes for HMGCLL1 Gene
- Size:
- 370 amino acids
- Molecular mass:
- 39514 Da
- Cofactor:
- Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAC87045.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAG51462.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
- Miscellaneous:
-
- [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Protein Expression for HMGCLL1 Gene
Selected DME Specific Peptides for HMGCLL1 Gene
- Q8TB92:
-
- EVGPRDGLQNE
- NCSIEES
- ALAVHCHDTYGQAL
- GASGNVATEDL
- YPVLTPN
- MGCYEISLGDTIGVGTPG
Post-translational modifications for HMGCLL1 Gene
Other Protein References for HMGCLL1 Gene
Antibody Products
- Creative Diagnostics Anti-HMGCLL1 monoclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for HMGCLL1
- Novus Biologicals Antibodies for HMGCLL1
-
Abcam antibodies for HMGCLL1
- Invitrogen Antibodies for HMGCLL1 (AFLGC-HMGCLL1)
Protein Products
-
OriGene Purified Proteins for HMGCLL1
- Search Origene for MassSpec and Protein Over-expression Lysates for HMGCLL1
- Origene Custom Protein Services for HMGCLL1
- antibodies-online: Show 5 available HMGCLL1 Proteins ranked by validation data
- Compare Top HMGCLL1 Proteins
-
Quality Products:
-
Signalway Proteins for HMGCLL1
-
Abcam proteins for HMGCLL1
Assay Products
- antibodies-online: Show 4 available HMGCLL1 Elisa Kits ranked by validation data
- Compare Top HMGCLL1 Elisa Kits
-
Quality Products:
Domains & Families for HMGCLL1 Gene
Gene Families for HMGCLL1 Gene
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for HMGCLL1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for HMGCLL1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ57919 (B7Z212_HUMAN)
- cDNA FLJ57397 (B7Z4D4_HUMAN)
- 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like protein 1 (HMGC2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8TB92- Family:
-
- Belongs to the HMG-CoA lyase family.
Function for HMGCLL1 Gene
Molecular function for HMGCLL1 Gene
- UniProtKB/Swiss-Prot Function:
- Non-mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis, the products of which support energy production in nonhepatic animal tissues.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(3S)-hydroxy-3-methylglutaryl-CoA = acetoacetate + acetyl-CoA; Xref=Rhea:RHEA:24404, ChEBI:CHEBI:13705, ChEBI:CHEBI:43074, ChEBI:CHEBI:57288; EC=4.1.3.4; Evidence={ECO:0000269|PubMed:22847177, ECO:0000269|PubMed:22865860};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=40 uM for (S)-3-hydroxy-3-methylglutaryl-CoA (at pH 9) {ECO:0000269|PubMed:22847177}; KM=75 uM for (S)-3-hydroxy-3-methylglutaryl-CoA (at pH 8) {ECO:0000269|PubMed:22847177}; KM=28 uM for (S)-3-hydroxy-3-methylglutaryl-CoA {ECO:0000269|PubMed:22865860}; KM=49 uM for (S)-3-hydroxy-3-methylglutaryl-CoA (in presence of magnesium) {ECO:0000269|PubMed:22865860}; KM=0.18 uM for (S)-3-hydroxy-3-methylglutaryl-CoA (in presence of manganese) {ECO:0000269|PubMed:22865860}; Vmax=12 nmol/min/mg enzyme with (S)-3-hydroxy-3-methylglutaryl-CoA as substrate at pH 9 {ECO:0000269|PubMed:22847177}; Vmax=25 nmol/min/mg enzyme with (S)-3-hydroxy-3-methylglutaryl-CoA as substrate at pH 8 {ECO:0000269|PubMed:22847177};
Enzyme Numbers (IUBMB) for HMGCLL1 Gene
Phenotypes From GWAS Catalog for HMGCLL1 Gene
| 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 |
Phenotypes for HMGCLL1 Gene
- GenomeRNAi human phenotypes for HMGCLL1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HMGCLL1 - Select products 50% OFF >
- * HMGCLL1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HMGCLL1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HMGCLL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HMGCLL1
miRNA for HMGCLL1 Gene
- miRTarBase miRNAs that target HMGCLL1
-
- mmu-miR-301b-3p (MIRT007860)
- mmu-miR-541-5p (MIRT008218)
- mmu-miR-26a-5p (MIRT011220)
- mmu-miR-19b-3p (MIRT012448)
- mmu-miR-30e-5p (MIRT013377)
- hsa-miR-335-5p (MIRT019060)
- hsa-miR-4635 (MIRT447458)
- hsa-miR-5585-3p (MIRT447459)
- hsa-miR-6772-3p (MIRT724264)
- hsa-miR-670-5p (MIRT724265)
- hsa-miR-4448 (MIRT724266)
- hsa-miR-4268 (MIRT724267)
- hsa-miR-1976 (MIRT724268)
- hsa-miR-6870-3p (MIRT724269)
- hsa-miR-6893-3p (MIRT724270)
- hsa-miR-370-3p (MIRT724271)
- hsa-miR-660-3p (MIRT724272)
- hsa-miR-5193 (MIRT724273)
- hsa-miR-6891-3p (MIRT724274)
- hsa-miR-6072 (MIRT724275)
- hsa-miR-4319 (MIRT724276)
- hsa-miR-125b-5p (MIRT724277)
- hsa-miR-125a-5p (MIRT724278)
- hsa-miR-4732-3p (MIRT724279)
- hsa-miR-345-3p (MIRT724280)
- hsa-miR-6729-3p (MIRT724281)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HMGCLL1
- Browse OriGene Inhibitory RNA Products For HMGCLL1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HMGCLL1
Clone Products
- Applied Biological Materials (abm): Clones for HMGCLL1 - Select products 50% OFF >
- * HMGCLL1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for HMGCLL1
- Addgene plasmids for HMGCLL1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HMGCLL1
Cell Line Products
-
Horizon Cell Lines for HMGCLL1
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HMGCLL1 Gene
Localization for HMGCLL1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HMGCLL1 Gene
- Cytoplasm, cytosol. Endoplasmic reticulum membrane. Peripheral membrane protein.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| cytosol | 5 |
| mitochondrion | 3 |
| extracellular | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| 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 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for HMGCLL1 Gene
Pathways & Interactions for HMGCLL1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.40
|
|
| 2 | Butanoate metabolism | ||
| 3 | Valine, leucine and isoleucine degradation | ||
| 4 | Ketone body metabolism | ||
| 5 | Peroxisome | ||
Pathways by source for HMGCLL1 Gene
1 BioSystems pathway for HMGCLL1 Gene
5 Reactome pathways for HMGCLL1 Gene
5 KEGG pathways for HMGCLL1 Gene
UniProtKB/Swiss-Prot Q8TB92-HMGC2_HUMAN
- Pathway: Metabolic intermediate metabolism; (S)-3-hydroxy-3-methylglutaryl-CoA degradation; acetoacetate from (S)-3-hydroxy-3-methylglutaryl-CoA: step 1/1.
Interacting Proteins for HMGCLL1 Gene
GPS-Prot Interaction Network for HMGCLL1
| 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 | -- |
No data available for SIGNOR curated interactions for HMGCLL1 Gene
Drugs & Compounds for HMGCLL1 Gene
| 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 |
|
Transcripts for HMGCLL1 Gene
mRNA/cDNA for HMGCLL1 Gene
- 5 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000274901 2475 nts (view in UCSC)
- ENST00000308161 1314 nts (view in UCSC)
- ENST00000370850 1171 nts (view in UCSC)
- ENST00000370852 2445 nts (view in UCSC)
- ENST00000398661 2532 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HMGCLL1 - Select products 50% OFF >
- * HMGCLL1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HMGCLL1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HMGCLL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HMGCLL1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HMGCLL1
- Browse OriGene Inhibitory RNA Products For HMGCLL1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HMGCLL1
Clone Products
- Applied Biological Materials (abm): Clones for HMGCLL1 - Select products 50% OFF >
- * HMGCLL1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for HMGCLL1
- Addgene plasmids for HMGCLL1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HMGCLL1
| 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: |
Relevant External Links for HMGCLL1 Gene
- GeneLoc Exon Structure for
- HMGCLL1
Expression for HMGCLL1 Gene
mRNA differential expression in normal tissues according to GTEx for HMGCLL1 Gene
This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x4.7), Brain - Frontal Cortex (BA9) (x4.5), and Brain - Hypothalamus (x4.3).
This gene is overexpressed in Heart (36.6) and Liver (32.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HMGCLL1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HMGCLL1
SOURCE GeneReport for Unigene cluster for HMGCLL1 Gene:
Hs.147054Evidence on tissue expression from TISSUES for HMGCLL1 Gene
- Nervous system(4.8)
Primer Products
-
OriGene qPCR primer pairs for HMGCLL1
-
OriGene qPCR primer pairs and template standards for HMGCLL1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HMGCLL1 Gene
Orthologs for HMGCLL1 Gene
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 |
- Species where no ortholog for HMGCLL1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- 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 Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for HMGCLL1 Gene
- ENSEMBL:
- Gene Tree for HMGCLL1 (if available)
- TreeFam:
- Gene Tree for HMGCLL1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for HMGCLL1: view image
Paralogs for HMGCLL1 Gene
(2) SIMAP similar genes for HMGCLL1 Gene using alignment to 5 proteins:
- HMGC2_HUMAN
- B7Z212_HUMAN
- B7Z4D4_HUMAN
- D6RHJ2_HUMAN
- G5E9S9_HUMAN
Variants for HMGCLL1 Gene
Residual Variation Intolerance Score:
44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.35;
26.78% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for HMGCLL1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HMGCLL1
SNP Genotyping and Copy Number Assay Products
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 HMGCLL1 Gene
Disorders for HMGCLL1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| 3-hydroxy-3-methylglutaryl-coa lyase deficiency |
|
|
| breast adenoid cystic carcinoma |
|
|
| hepatic infarction |
|
|
Search HMGCLL1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for HMGCLL1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for HMGCLL1 Gene
Publications for HMGCLL1 Gene
- Identification and characterization of an extramitochondrial human 3-hydroxy-3-methylglutaryl-CoA lyase. (PMID: 22865860) Montgomery C … Miziorko HM (The Journal of biological chemistry 2012) 3 4
- Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol. (PMID: 22847177) Arnedo M … Pié J (Journal of lipid research 2012) 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W … Gibbs RA (Genome research 1997) 2 3
ExternalLinks
Products for HMGCLL1 Gene
- Custom Antibody ServicesOriGene Antibodies for HMGCLL1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for HMGCLL1
- Search Origene for MassSpec and Protein Over-expression Lysates for HMGCLL1
- Origene Custom Protein Services for HMGCLL1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HMGCLL1
- Browse OriGene Inhibitory RNA Products For HMGCLL1
- OriGene qPCR primer pairs for HMGCLL1
- OriGene qPCR primer pairs and template standards for HMGCLL1
- OriGene CRISPR knockouts for HMGCLL1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HMGCLL1
- Sino Biological Human cDNA Clone for HMGCLL1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for HMGCLL1
- Novus Biologicals proteins and lysates for HMGCLL1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for HMGCLL1
- Abcam proteins for HMGCLL1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for HMGCLL1 (AFLGC-HMGCLL1)
- VectorBuilder Custom and pre-made DNA vectors for HMGCLL1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for HMGCLL1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for HMGCLL1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for HMGCLL1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for HMGCLL1
- Addgene plasmids for HMGCLL1
- antibodies-online: Show 17 available HMGCLL1 Antibodies ranked by validation data
- Compare Top HMGCLL1 Antibodies
- antibodies-online: Show 4 available HMGCLL1 Elisa Kits ranked by validation data
- Compare Top HMGCLL1 Elisa Kits
- Quality Products:
- antibodies-online: Show 5 available HMGCLL1 Proteins ranked by validation data
- Compare Top HMGCLL1 Proteins
- Quality Products:
- Horizon Cell Lines for HMGCLL1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HMGCLL1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HMGCLL1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for HMGCLL1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HMGCLL1
- Signalway Proteins for HMGCLL1
Sources for HMGCLL1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB