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Aliases for HMGCLL1 Gene

Aliases for HMGCLL1 Gene

  • 3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase-Like 1 2 3
  • Endoplasmic Reticulum 3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase 3 4
  • 3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase-Like Protein 1 3 4
  • 3-Hydroxymethyl-3-Methylglutaryl-Coenzyme A Lyase-Like 1 2 3
  • EC 4.1.3.4 4 63
  • Er-CHL 3 4
  • 3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase, Cytoplasmic 3
  • Probable 3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase 2 3
  • BA418P12.1 3

External Ids for HMGCLL1 Gene

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. Among its related pathways are leucine degradation I. GO annotations related to this gene include hydroxymethylglutaryl-CoA lyase activity. An important paralog of this gene is HMGCL.

UniProtKB/Swiss-Prot 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.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HMGCLL1 Gene

Genomics for HMGCLL1 Gene

Regulatory Elements for HMGCLL1 Gene

Genomic Location for HMGCLL1 Gene

Start:
55,434,369 bp from pter
End:
55,579,214 bp from pter
Size:
144,846 bases
Orientation:
Minus strand

Genomic View for HMGCLL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HMGCLL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic
    Protein Accession:
    Q8TB92
    Secondary Accessions:
    • 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; Positions=253; Evidence={ECO:0000305}; Sequence=BAG51462.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for HMGCLL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HMGCLL1 Gene

Proteomics data for HMGCLL1 Gene at MOPED

Selected DME Specific Peptides for HMGCLL1 Gene

Post-translational modifications for HMGCLL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains for HMGCLL1 Gene

Protein Domains for HMGCLL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HMGCLL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TB92

UniProtKB/Swiss-Prot:

HMGC2_HUMAN :
  • Q8TB92
Family:
  • Belongs to the HMG-CoA lyase family.
genes like me logo Genes that share domains with HMGCLL1: view

No data available for Gene Families for HMGCLL1 Gene

Function for HMGCLL1 Gene

Molecular function for HMGCLL1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=40 uM for (S)-3-hydroxy-3-methylglutaryl-CoA (at pH 9) {ECO:0000269 PubMed:22847177, ECO:0000269 PubMed:22865860}; KM=75 uM for (S)-3-hydroxy-3-methylglutaryl-CoA (at pH 8) {ECO:0000269 PubMed:22847177, ECO:0000269 PubMed:22865860}; KM=28 uM for (S)-3-hydroxy-3-methylglutaryl-CoA {ECO:0000269 PubMed:22847177, ECO:0000269 PubMed:22865860}; KM=49 uM for (S)-3-hydroxy-3-methylglutaryl-CoA (in presence of magnesium) {ECO:0000269 PubMed:22847177, ECO:0000269 PubMed:22865860}; KM=0.18 uM for (S)-3-hydroxy-3-methylglutaryl-CoA (in presence of manganese) {ECO:0000269 PubMed:22847177, 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, ECO:0000269 PubMed:22865860}; Vmax=25 nmol/min/mg enzyme with (S)-3-hydroxy-3-methylglutaryl- CoA as substrate at pH 8 {ECO:0000269 PubMed:22847177, ECO:0000269 PubMed:22865860};
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-3-hydroxy-3-methylglutaryl-CoA = acetyl-CoA + acetoacetate.
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.

Enzyme Numbers (IUBMB) for HMGCLL1 Gene

Gene Ontology (GO) - Molecular Function for HMGCLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004419 hydroxymethylglutaryl-CoA lyase activity ISS --
GO:0016829 lyase activity --
GO:0046872 metal ion binding TAS 22865860
genes like me logo Genes that share ontologies with HMGCLL1: view

Phenotypes for HMGCLL1 Gene

GenomeRNAi human phenotypes for HMGCLL1:
genes like me logo Genes that share phenotypes with HMGCLL1: view

Animal Model Products

CRISPR Products

miRNA for HMGCLL1 Gene

miRTarBase miRNAs that target HMGCLL1

No data available for Animal Models , Transcription Factor Targeting 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HMGCLL1 Gene COMPARTMENTS Subcellular localization image for HMGCLL1 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
mitochondrion 3
nucleus 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HMGCLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 22847177
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005829 cytosol IDA 22847177
GO:0016020 membrane IDA 22865860
GO:0048471 perinuclear region of cytoplasm IDA 22865860
genes like me logo Genes that share ontologies with HMGCLL1: view

Pathways for HMGCLL1 Gene

SuperPathways for HMGCLL1 Gene

Superpath Contained pathways
1 leucine degradation I
genes like me logo Genes that share pathways with HMGCLL1: view

Pathways by source for HMGCLL1 Gene

1 BioSystems pathway 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

Gene Ontology (GO) - Biological Process for HMGCLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process --
GO:0046951 ketone body biosynthetic process IDA 22847177
genes like me logo Genes that share ontologies with HMGCLL1: view

Compounds for HMGCLL1 Gene

(1) HMDB Compounds for HMGCLL1 Gene

Compound Synonyms Cas Number PubMed IDs
Acetoacetic acid
  • 3-Ketobutyrate
541-50-4
genes like me logo Genes that share compounds with HMGCLL1: view

Transcripts for HMGCLL1 Gene

Unigene Clusters for HMGCLL1 Gene

3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HMGCLL1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HMGCLL1 Gene

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
ECgene alternative splicing isoforms for
HMGCLL1

Expression for HMGCLL1 Gene

mRNA expression in normal human tissues 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) (4.7), Brain - Frontal Cortex (BA9) (4.5), and Brain - Hypothalamus (4.3).

Protein differential expression in normal tissues for HMGCLL1 Gene

This gene is overexpressed in Heart (36.6) and Liver (32.4).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for HMGCLL1 Gene

SOURCE GeneReport for Unigene cluster for HMGCLL1 Gene Hs.147054

genes like me logo Genes that share expressions with HMGCLL1: view

Expression partners for HMGCLL1 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for HMGCLL1 Gene

Orthologs for HMGCLL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HMGCLL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HMGCLL1 35
  • 89.31 (n)
  • 93.24 (a)
HMGCLL1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HMGCLL1 35
  • 94.51 (n)
  • 96.47 (a)
HMGCLL1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hmgcll1 35
  • 88.43 (n)
  • 92.65 (a)
Hmgcll1 16
Hmgcll1 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HMGCLL1 35
  • 99.59 (n)
  • 99.09 (a)
HMGCLL1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hmgcll1 35
  • 88.14 (n)
  • 92.06 (a)
oppossum
(Monodelphis domestica)
Mammalia HMGCLL1 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HMGCLL1 36
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves HMGCLL1 35
  • 78.54 (n)
  • 83.09 (a)
HMGCLL1 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HMGCLL1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hmgcll1 35
  • 72.85 (n)
  • 73.65 (a)
zebrafish
(Danio rerio)
Actinopterygii hmgcll1 35
  • 66.47 (n)
  • 70.96 (a)
hmgcll1 36
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10399 36
  • 56 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y71G12B.10 36
  • 50 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os12g0134000 35
  • 62.39 (n)
  • 64.53 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToMany
Species with no ortholog for HMGCLL1:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for HMGCLL1 Gene

Paralogs for HMGCLL1 Gene

Selected SIMAP similar genes for HMGCLL1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with HMGCLL1: view

Variants for HMGCLL1 Gene

Sequence variations from dbSNP and Humsavar for HMGCLL1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs15771 -- 55,465,956(-) GTTAA(A/G)GGCAG intron-variant
rs924642 -- 55,436,170(+) TCTTT(A/G)CTATA intron-variant
rs1393327 -- 55,436,351(+) TTCGC(C/T)TGAGA intron-variant
rs1393328 -- 55,436,563(+) TTGCC(C/T)TTATG intron-variant
rs1472641 -- 55,436,925(+) GGTAA(C/T)GGCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HMGCLL1 Gene

Variant ID Type Subtype PubMed ID
dgv6849n71 CNV Gain 21882294
nsv470819 CNV Gain 18288195
nsv462948 CNV Gain 19166990
nsv5311 CNV Loss 18451855
esv2732109 CNV Deletion 23290073
esv2732110 CNV Deletion 23290073
esv2732111 CNV Deletion 23290073
esv2659563 CNV Deletion 23128226
esv4242 CNV Deletion 18987735
esv2732112 CNV Deletion 23290073
esv5756 CNV Loss 19470904
esv2662832 CNV Deletion 23128226
nsv349134 CNV Loss 16902084
esv1503742 CNV Deletion 17803354
esv2674357 CNV Deletion 23128226
esv22238 CNV Loss 19812545
esv2732113 CNV Deletion 23290073

Relevant External Links for HMGCLL1 Gene

HapMap Linkage Disequilibrium report
HMGCLL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HMGCLL1 Gene

Disorders for HMGCLL1 Gene

(1) University of Copenhagen DISEASES for HMGCLL1 Gene

Relevant External Links for HMGCLL1

Genetic Association Database (GAD)
HMGCLL1
Human Genome Epidemiology (HuGE) Navigator
HMGCLL1
genes like me logo Genes that share disorders with HMGCLL1: view

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships and Genatlas for HMGCLL1 Gene

Publications for HMGCLL1 Gene

  1. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B. … Gibbs R.A. (Anal. Biochem. 1996) 2 3
  2. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W. … Gibbs R.A. (Genome Res. 1997) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  5. Characterization of a novel HMG-CoA Lyase enzyme with a dual location in endoplasmic reticulum and cytosol. (PMID: 22847177) Arnedo M. … Pie J. (J. Lipid Res. 2012) 3 4

Products for HMGCLL1 Gene

Sources for HMGCLL1 Gene

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