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HMGCLL1 Gene

protein-coding   GIFtS: 50
GCID: GC06M055299

3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase-Like 1

(Previous name: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase-Like 11 2     EC 4.1.3.43 8
3-Hydroxymethyl-3-Methylglutaryl-Coenzyme A Lyase-Like 11 2     3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase, Cytoplasmic2
Endoplasmic Reticulum 3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase2 3     bA418P12.12
3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase-Like Protein 12 3     Probable 3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase 22
er-cHL2 3     

External Ids:    HGNC: 213591   Entrez Gene: 545112   Ensembl: ENSG000001461517   UniProtKB: Q8TB923   

Export aliases for HMGCLL1 gene to outside databases

Previous GC identifers: GC06M055300 GC06M055346 GC06M055407 GC06M055133


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for HMGCLL1 Gene:
HMGCLL1 (3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1) is a protein-coding gene. Diseases associated with HMGCLL1 include hmg coa lyase deficiency, and optic atrophy. GO annotations related to this gene include hydroxymethylglutaryl-CoA lyase activity. An important paralog of this gene is HMGCL.

UniProtKB/Swiss-Prot: HMGC2_HUMAN, Q8TB92
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the HMGCLL1 gene promoter:
         NF-1   NF-1/L   Pax-5   NF-kappaB   C/EBPalpha   Gfi-1   PPAR-gamma1   PPAR-gamma2   NF-kappaB1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHMGCLL1 promoter sequence
   Search Chromatin IP Primers for HMGCLL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HMGCLL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p12.1   Ensembl cytogenetic band:  6p12.1   HGNC cytogenetic band: 6p12.1

HMGCLL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HMGCLL1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M055299:  view genomic region     (about GC identifiers)

Start:
55,299,167 bp from pter      End:
55,444,012 bp from pter
Size:
144,846 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HMGC2_HUMAN, Q8TB92 (See protein sequence)
Recommended Name: 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic  
Size: 370 amino acids; 39514 Da
Cofactor: Divalent metal cations (Probable)
Sequence caution: Sequence=BAC87045.1; Type=Frameshift; Positions=253; Sequence=BAG51462.1; Type=Erroneous
translation; Note=Wrong choice of CDS;
Secondary accessions: B1AQ42 B3KNV0 B7Z1S7 F8W793 Q6ZSA9
Alternative splicing: 4 isoforms:  Q8TB92-1   Q8TB92-2   Q8TB92-4   Q8TB92-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HMGCLL1: NX_Q8TB92

Explore proteomics data for HMGCLL1 at MOPED

Selected DME Specific Peptides for HMGCLL1 (Q8TB92) (see all 6)
 NCSIEES  YPVLTPN  GASGNVATEDL  EVGPRDGLQNE 


See HMGCLL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (5 alternative transcripts): 
NP_001035865.1  NP_001274670.1  NP_001274675.1  NP_001274682.1  NP_061909.2  

ENSEMBL proteins: 
 ENSP00000274901   ENSP00000381654   ENSP00000359889   ENSP00000359887   ENSP00000424309  
 ENSP00000309737   ENSP00000412924   ENSP00000426054   ENSP00000350779  

HMGCLL1 Human Recombinant Protein Products:

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OriGene Protein Over-expression Lysate for HMGCLL1
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Novus Biologicals HMGCLL1 Protein
Novus Biologicals HMGCLL1 Lysate
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Cloud-Clone Corp. Proteins for HMGCLL1

HMGCLL1 Antibody Products:

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Abcam antibodies for HMGCLL1
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ThermoFisher Antibody for HMGCLL1
LSBio Antibodies in human, mouse, rat for HMGCLL1

HMGCLL1 Assay Products:

Browse Kits and Assays available from EMD Millipore
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Cloud-Clone Corp. ELISAs for HMGCLL1
Cloud-Clone Corp. CLIAs for HMGCLL1


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro protein domains:
 IPR013785 Aldolase_TIM
 IPR000891 PYR_CT
 IPR027167 HMG-CoA_lyase

Graphical View of Domain Structure for InterPro Entry Q8TB92

ProtoNet protein and cluster: Q8TB92

UniProtKB/Swiss-Prot: HMGC2_HUMAN, Q8TB92
Similarity: Belongs to the HMG-CoA lyase family


HMGCLL1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: HMGC2_HUMAN, Q8TB92
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
Catalytic activity: (S)-3-hydroxy-3-methylglutaryl-CoA = acetyl-CoA + acetoacetate
Biophysicochemical properties: Kinetic parameters: KM=40 uM for (S)-3-hydroxy-3-methylglutaryl-CoA (at pH 9)
(PubMed:22847177); KM=75 uM for (S)-3-hydroxy-3-methylglutaryl-CoA (at pH 8) (PubMed:22847177); KM=28 uM for
(S)-3-hydroxy-3-methylglutaryl-CoA (PubMed:22865860); KM=49 uM for (S)-3-hydroxy-3-methylglutaryl-CoA (in
presence of magnesium) (PubMed:22865860); KM=0.18 uM for (S)-3-hydroxy-3-methylglutaryl-CoA (in presence of
manganese) (PubMed:22865860); Vmax=12 nmol/min/mg enzyme with (S)-3-hydroxy-3-methylglutaryl- CoA as substrate at
pH 9 (PubMed:22847177); Vmax=25 nmol/min/mg enzyme with (S)-3-hydroxy-3-methylglutaryl- CoA as substrate at pH 8
(PubMed:22847177);

     Enzyme Number (IUBMB): EC 4.1.3.41 2

     Gene Ontology (GO): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003824catalytic activity ----
GO:0004419hydroxymethylglutaryl-CoA lyase activity ISS--
GO:0046872metal ion binding TAS--
     
HMGCLL1 for ontologies           About GeneDecksing


Phenotypes:
     2 GenomeRNAi human phenotypes for HMGCLL1:
 Increased cell number in G1, s  Increased gamma-H2AX phosphory 

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HMGCLL1
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HMGCLL1

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HMGCLL1
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HMGCLL1

miRNA
Products:
    
miRTarBase miRNAs that target HMGCLL1:
hsa-mir-335-5p (MIRT019060)

Block miRNA regulation of human, mouse, rat HMGCLL1 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate HMGCLL1 (see all 11):
hsa-miR-411* hsa-miR-3128 hsa-miR-577 hsa-miR-142-5p hsa-miR-495 hsa-miR-379* hsa-miR-137 hsa-miR-432
SwitchGear 3'UTR luciferase reporter plasmidHMGCLL1 3' UTR sequence
Inhib. RNA
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OriGene RNAi products in human, mouse, rat for HMGCLL1
Predesigned siRNA for gene silencing in human, mouse, rat HMGCLL1

Gene Editing
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DNA2.0 Custom Protein Engineering Service for HMGCLL1

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OriGene ORF clones in mouse, rat for HMGCLL1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): HMGCLL1 (NM_001042406)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for HMGCLL1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMGCLL1

Cell Line
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GenScript Custom overexpressing Cell Line Services for HMGCLL1
Browse ESI BIO Cell Lines and PureStem Progenitors for HMGCLL1 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMGCLL1


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
HMGC2_HUMAN, Q8TB92: Cytoplasm, cytosol. Endoplasmic reticulum membrane; Peripheral membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol5
endoplasmic reticulum5
mitochondrion3
nucleus2
extracellular1
peroxisome1

Gene Ontology (GO): 5 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005783endoplasmic reticulum IDA--
GO:0005789endoplasmic reticulum membrane IEA--
GO:0005829cytosol IDA--
GO:0016020membrane IDA--
GO:0048471perinuclear region of cytoplasm IDA--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for HMGCLL1 About                                                                                                See pathways by source

SuperPathContained pathways About
1leucine degradation I
leucine degradation I


1 BioSystems Pathway for HMGCLL1
    leucine degradation I


UniProtKB/Swiss-Prot: HMGC2_HUMAN, Q8TB92
Pathway: Metabolic intermediate metabolism; (S)-3-hydroxy-3-methylglutaryl-CoA degradation; acetoacetate from
(S)-3-hydroxy-3-methylglutaryl-CoA: step 1/1

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HMGCLL1
Interactions:

    Search GeneGlobe Interaction Network for HMGCLL1

STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

Selected Interacting proteins for HMGCLL1 (ENSP000003816544) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

InteractantInteraction Details
GeneCardExternal ID(s)
AUHENSP000003648834STRING: ENSP00000364883
KIAA0368ENSP000002593354STRING: ENSP00000259335
PDCD11ENSP000003588124STRING: ENSP00000358812
ASS1ENSP000002530044STRING: ENSP00000253004
MCM3APENSP000002916884STRING: ENSP00000291688
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Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0046951ketone body biosynthetic process IDA--

HMGCLL1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for HMGCLL1 (HMGC2)

1 HMDB Compound for HMGCLL1    About this table
CompoundSynonyms CAS #PubMed Ids
Acetoacetic acid3-Ketobutyrate (see all 9)541-50-4--



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for HMGCLL1 gene (5 alternative transcripts): 
NM_001042406.1  NM_001287741.1  NM_001287746.1  NM_001287753.1  NM_019036.2  

Unigene Cluster for HMGCLL1:

3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1
Hs.147054  [show with all ESTs]
Unigene Representative Sequence: NM_019036
10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000274901(uc003pco.3 uc010jzx.3 uc011dxc.2 uc011dxd.2 uc011dxe.2)
ENST00000398661(uc003pcn.3) ENST00000370852 ENST00000370850 ENST00000508459
ENST00000308161 ENST00000507223 ENST00000428842(uc003pcp.3) ENST00000515546
ENST00000358072
miRNA
Products:
     
Block miRNA regulation of human, mouse, rat HMGCLL1 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate HMGCLL1 (see all 11):
hsa-miR-411* hsa-miR-3128 hsa-miR-577 hsa-miR-142-5p hsa-miR-495 hsa-miR-379* hsa-miR-137 hsa-miR-432
SwitchGear 3'UTR luciferase reporter plasmidHMGCLL1 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for HMGCLL1
Predesigned siRNA for gene silencing in human, mouse, rat HMGCLL1
Clone
Products:
     
OriGene clones in human, mouse for HMGCLL1 (see all 11)
OriGene ORF clones in mouse, rat for HMGCLL1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): HMGCLL1 (NM_001042406)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for HMGCLL1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMGCLL1
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for HMGCLL1
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HMGCLL1
  QuantiTect SYBR Green Assays in human, mouse, rat HMGCLL1
  QuantiFast Probe-based Assays in human, mouse, rat HMGCLL1

Additional mRNA sequence: 

AF131827.1 AK127587.1 AK293856.1 AK294210.1 AK297191.1 BC024194.2 

5 DOTS entries:

DT.91653916  DT.208839  DT.121394584  DT.91653911  DT.203684 

Selected AceView cDNA sequences (see all 28):

AK055075 BM677074 CA771988 BC024194 AA398539 NM_019036 AL137605 AA628723 
AA393132 BI824058 BG703604 T09237 AK127587 BX281003 T09238 BM721336 
AF131827 BF966735 F06678 CA773353 T80309 R38957 CA772268 BF966299 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for HMGCLL1 (see all 7)    About this scheme

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:                          -     -     -     -     -     -     -     -     -     -                                       


ECgene alternative splicing isoforms for HMGCLL1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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HMGCLL1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GTGCTTTGCT
HMGCLL1 Expression
About this image

HMGCLL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

HMGCLL1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.147054
    Custom PCR Arrays for HMGCLL1
Primer
Products:
OriGene qSTAR qPCR primer pairs in human, mouse for HMGCLL1
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HMGCLL1
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QuantiFast Probe-based Assays in human, mouse, rat HMGCLL1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMGCLL1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for HMGCLL1 gene from Selected species (see all 17)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Hmgcll11 , 5 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like more1, 5 88.43(n)1
92.65(a)1
  9 (42.43 cM)5
2089821  NM_173731.21  NP_776092.11 
 760148555 
chicken
(Gallus gallus)
Aves HMGCLL11 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 78.54(n)
83.09(a)
  421886  XM_419903.4  XP_419903.3 
lizard
(Anolis carolinensis)
Reptilia HMGCLL16
3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1
78(a)
1 ↔ 1
GL343342.1(588573-673180)
tropical clawed frog
(Xenopus tropicalis)
Amphibia hmgcll11 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 72.85(n)
73.65(a)
  100497263  XM_004914495.1  XP_004914552.1 
zebrafish
(Danio rerio)
Actinopterygii hmgcll11 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 66.47(n)
70.96(a)
  571388  NM_001110400.1  NP_001103870.1 
fruit fly
(Drosophila melanogaster)
Insecta CG103996
--
56(a)
1 → many
2L(6960426-6961552)
worm
(Caenorhabditis elegans)
Secernentea Y71G12B.106
Protein Y71G12B.10 (Y71G12B.10) mRNA, complete cds...
50(a)
1 → many
I(1751481-1754410) WBGene00022150
Alicante grape
(Vitis vinifera)
eudicotyledons CF603665.12   -- 73.17(n)    CF603665.1 
rice
(Oryza sativa)
Liliopsida Os12g01340001 Os12g0134000 62.39(n)
64.53(a)
  4351434  NM_001072625.1  NP_001066093.1 


ENSEMBL Gene Tree for HMGCLL1 (if available)
TreeFam Gene Tree for HMGCLL1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for HMGCLL1 gene
HMGCL2  
2 SIMAP similar genes for HMGCLL1 using alignment to 5 protein entries:     HMGC2_HUMAN (see all proteins):
DKFZp434G1411    HMGCL

HMGCLL1 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for HMGCLL1 (see all 3061)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1494122111,2
--55280582(+) TAATCA/GTTTTC 2 -- us2k10--------
rs1465724241,2
C--55298790(+) TCCAT-/GGTTTT 2 -- int10--------
rs1427342811,2
--55298831(+) CCCCTC/TAGTTG 2 -- int10--------
rs15462981,2
C,F,O,H--55298959(+) GTACAC/TGCTAA 2 -- int129Minor allele frequency- N:0.00NS EA NA WA 3398
rs1910100761,2
--55298989(+) GCCAGC/TGTGCA 2 -- int10--------
rs15462991,2
C,F,A,H--55299220(+) TTTCCG/TAGAAA 2 -- ut31 ese330Minor allele frequency- T:0.36MN NA NS EA WA CSA 3075
rs1817828751,2
--55299259(+) TTTATA/TTTCAA 2 -- ut310--------
rs77393561,2
C,F,H--55299288(+) TCACCC/GGGTAT 2 -- ut31 ese36Minor allele frequency- G:0.02NS EA NA WA 538
rs1473586861,2
C--55299289(+) CACCCA/GGTATT 2 -- ut310--------
rs1851290381,2
--55299403(+) GTCCTA/CCTGCT 2 -- ut310--------

HapMap Linkage Disequilibrium report for HMGCLL1 (55299167 - 55444012 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for HMGCLL1 (see all 17):    About this table    
Variant IDTypeSubtypePubMed ID
esv2732112CNV Deletion23290073
esv2732110CNV Deletion23290073
esv1503742CNV Deletion17803354
esv2662832CNV Deletion23128226
esv2732109CNV Deletion23290073
esv2732113CNV Deletion23290073
esv2659563CNV Deletion23128226
esv2732111CNV Deletion23290073
esv2674357CNV Deletion23128226
esv4242CNV Deletion18987735

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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3 diseases for HMGCLL1:    About MalaCards
hmg coa lyase deficiency    optic atrophy    obesity

1 disease from the University of Copenhagen DISEASES database for HMGCLL1:
Optic atrophy

HMGCLL1 for disorders           About GeneDecksing

Genetic Association Database (GAD): HMGCLL1
Human Genome Epidemiology (HuGE) Navigator: HMGCLL1 (1 document)

Export disorders for HMGCLL1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for HMGCLL1 gene, integrated from 10 sources (see all 13):
(articles sorted by number of sources associating them with HMGCLL1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Characterization of a novel HMG-CoA Lyase enzyme with a dual location in endoplasmic reticulum and cytosol. (PubMed id 22847177)1, 2 Arnedo M.... Pie J. (J. Lipid Res. 2012)
  2. Identification and characterization of an extramitochondrial human 3- Hydroxy-3-methylglutaryl-CoA lyase. (PubMed id 22865860)1, 2 Montgomery C.... Miziorko H.M. (J. Biol. Chem. 2012)
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  5. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 3 Yu W.... Gibbs R.A. (Genome Res. 1997)
  6. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1, 3 Andersson B.... Gibbs R.A. (Anal. Biochem. 1996)
  7. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
  8. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
  9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
  10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 54511 HGNC: 21359 AceView: HMGCLL1 Ensembl:ENSG00000146151 euGenes: HUgn54511
ECgene: HMGCLL1 H-InvDB: HMGCLL1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for HMGCLL1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for HMGCLL1 gene:
Search GeneIP for patents involving HMGCLL1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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