HMGCL cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	HMGCL
Entrez Gene ID	3155
Full Name	3-hydroxymethyl-3-methylglutaryl-CoA lyase
Synonyms	HL
General protein information	Preferred Names 3-hydroxymethyl-3-methylglutaryl-CoA lyase Names hydroxymethylglutaryl-CoA lyase, mitochondrial 3-hydroxy-3-methylglutarate-CoA lyase 3-hydroxy-3-methylglutaryl-CoA lyase 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase HMG-CoA lyase hydroxymethylglutaricaciduria mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 1 Map Location: 1p36.11
Summary	The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009].
Disorder MIM:	613898
Disorder Html:	HMG-CoA lyase deficiency, 246450 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_001166059.1	NP_001159531.1	hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 2 precursor
NM_000191.2	NP_000182.2	hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 1 precursor
NM_000191.3	NP_000182.2	hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 1 precursor

Pathways from BioSystems

Homologies

	HMGCL	XP_001104722.2
Canis lupus familiaris (dog)	HMGCL	XP_003638949.1
Gallus gallus (chicken)	HMGCL	NP_001185643.1
Drosophila melanogaster (fruit fly)	CG10399	NP_609089.1
Pan troglodytes (chimpanzee)	HMGCL	XP_001166273.1
Homo sapiens (human)	HMGCL	NP_000182.2
Bos taurus (cattle)	HMGCL	NP_001068600.1
Mus musculus (house mouse)	Hmgcl	NP_032280.2
Rattus norvegicus (Norway rat)	Hmgcl	NP_077362.1
Arabidopsis thaliana (thale cress)	AT2G26800	NP_850087.1
Xenopus tropicalis (tropical clawed frog)	LOC100494904	XP_002934605.1
Danio rerio (zebrafish)	hmgcl	NP_957509.1
Anopheles gambiae (African malaria mosquito)	AgaP_AGAP008717	XP_314824.4
Caenorhabditis elegans (roundworm)	Y71G12B.10	NP_490889.1
Oryza sativa (rice)	Os01g0269000	NP_001042696.1

Gene Ontology
Bibliography

Related articles in PubMed

Inactivation of HMGCL promotes proliferation and metastasis of nasopharyngeal carcinoma by suppressing oxidative stress.
Luo W, Qin L, Li B, Liao Z, Liang J, Xiao X, Xiao X, Mo Y, Huang G, Zhang Z, Zhou X, Li P
Scientific reports7(1)11954(2017 Sep)

HMG-CoA synthase 1 is a synthetic lethal partner of BRAF
Zhao L, Fan J, Xia S, Pan Y, Liu S, Qian G, Qian Z, Kang HB, Arbiser JL, Pollack BP, Kudchadkar RR, Lawson DH, Rossi M, Abdel-Wahab O, Merghoub T, Khoury HJ, Khuri FR, Boise LH, Lonial S, Chen F, Chen J, Lin R
The Journal of biological chemistry292(24)10142-10152(2017 06)

3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation.
K?ksal T, G?nd?z M, ?zayd?n E, Azak E
Indian journal of pediatrics82(7)645-8(2015 Jul)

Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Aoyama Y, Yamamoto T, Sakaguchi N, Ishige M, Tanaka T, Ichihara T, Ohara K, Kouzan H, Kinosada Y, Fukao T
International journal of molecular medicine35(6)1554-60(2015 Jun)

Measurement of HMG CoA reductase activity in different human cell lines by ultra-performance liquid chromatography tandem mass spectrometry.
Kuzaj P, Kuhn J, Faust I, Knabbe C, Hendig D
Biochemical and biophysical research communications443(2)641-5(2014 Jan)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Data suggest that HMGCS1 (HMG-CoA synthase 1) signals through ketogenesis/acetoacetate to promote cell proliferation and BRAF(V600E)-dependent MEK1 activation in BRAF(V600E)-positive melanoma and colon cancer cells; HMGCS1 co-localizes with HMGCL (HMG-CoA lyase) and BRAF(V600E) in cytosol of melanoma and colon cancer cells. (BRAF = proto-oncogene protein B-raf)
Title: HMG-CoA synthase 1 is a synthetic lethal partner of BRAF

The genetic analysis revealed a novel homozygote deletion in exon 3 and 4 in HMGCL gene. HMG-CoA lyase deficiency should be thought in the patients with hypoketotic hypoglycemia, hyperammonemia, elevated liver function tests, noncompaction left ventricle and characteristic white matter changes and in the differential diagnosis of macrocephaly.
Title: 3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation.

this is the first study describing HMGCL deficiency caused by uniparental disomy.
Title: Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

This efficient UPLC-MS/MS assay permits rapid and high sensitive determination of HMGCR enzyme activity, tracing potential alterations in cholesterol biosynthesis.
Title: Measurement of HMG CoA reductase activity in different human cell lines by ultra-performance liquid chromatography tandem mass spectrometry.

in the 2 stop codon mutations c.109G>T and c.504_505delCT studied, the stop codon does not appear to be the cause of aberrant splicing; the mutation c.504_505delCT causes 2 mRNA transcripts with a stop codon that generate two simultaneous nonsense-mediated mRNA decay phenomena
Title: Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency.

The following HMGCL gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the HMGCL cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1⁺/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

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***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)
OHu24855	NM_001166059.1 Latest version!	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA lyase (HMGCL), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$188.30 $269.00
OHu22369	NM_000191.3 Latest version!	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA lyase (HMGCL), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	5+	$139.30 $199.00
View Old Accession Versions >>
OHu22369	NM_000191.2	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMGCL), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$139.30 $199.00
Hide Old Accession Versions >>

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** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

HMGCL ( NM_000191.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_000182.2 Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMGCL), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu22369
Clone ID Related Accession (Same CDS sequence)	NM_000191.2 , NM_000191.3
Accession Version	NM_000191.2	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 978bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2017-12-26
Organism	Homo sapiens(human)
Product	hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 1 precursor
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL590728.26, AL031295.1 and AI202943.1. This sequence is a reference standard in the RefSeqGene project. On Apr 5, 2005 this sequence version replaced NM_000191.1. Transcript Variant: This variant (1) encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.215326.1, SRR1163658.147548.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGGCAGCAA TGAGGAAGGC GCTTCCGCGG CGACTGGTGG GCTTGGCGTC CCTCCGGGCT 
GTCAGCACCT CATCTATGGG CACTTTACCA AAGCGGGTGA AAATTGTGGA AGTTGGTCCC 
CGAGATGGAC TACAAAATGA AAAGAATATC GTATCTACTC CAGTGAAAAT CAAGCTGATA 
GACATGCTTT CTGAAGCAGG ACTCTCTGTT ATAGAAACCA CCAGCTTTGT GTCTCCTAAG 
TGGGTTCCCC AGATGGGTGA CCACACTGAA GTCTTGAAGG GCATTCAGAA GTTTCCTGGC 
ATCAACTACC CAGTCCTGAC CCCAAATTTG AAAGGCTTCG AGGCAGCGGT TGCTGCTGGA 
GCCAAGGAAG TAGTCATCTT TGGAGCTGCC TCAGAGCTCT TCACCAAGAA GAACATCAAT 
TGTTCCATAG AGGAGAGTTT TCAGAGGTTT GACGCAATCC TGAAGGCAGC GCAGTCAGCC 
AATATTTCTG TGCGGGGGTA CGTCTCCTGT GCTCTTGGCT GCCCTTATGA AGGGAAGATC 
TCCCCAGCTA AAGTAGCTGA GGTCACCAAG AAGTTCTACT CAATGGGCTG CTACGAGATC 
TCCCTGGGGG ACACCATTGG TGTGGGCACC CCAGGGATCA TGAAAGACAT GCTATCTGCT 
GTCATGCAGG AAGTGCCTCT GGCTGCCCTG GCTGTCCACT GCCATGACAC CTATGGTCAA 
GCCCTGGCCA ACACCTTGAT GGCCCTGCAG ATGGGAGTGA GTGTCGTGGA CTCTTCTGTG 
GCAGGACTTG GAGGCTGTCC CTACGCACAG GGGGCATCAG GAAACTTGGC CACAGAAGAC 
CTGGTCTACA TGCTAGAGGG CTTGGGCATT CACACGGGTG TGAATCTCCA GAAGCTTCTG 
GAAGCTGGAA ACTTTATCTG TCAAGCCCTG AACAGAAAAA CTAGCTCCAA AGTGGCTCAG 
GCTACCTGTA AACTCTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_000182.2
CDS	45..1022
Translation	MAAMRKALPRRLVGLASLRAVSTSSMGTLPKRVKIVEVGPRDGLQNEKNIVSTPVKIKLIDMLSEAGLSVIETTSFVSPKWVPQMGDHTEVLKGIQKFPGINYPVLTPNLKGFEAAVAAGAKEVVIFGAASELFTKKNINCSIEESFQRFDAILKAAQSANISVRGYVSCALGCPYEGKISPAKVAEVTKKFYSMGCYEISLGDTIGVGTPGIMKDMLSAVMQEVPLAALAVHCHDTYGQALANTLMALQMGVSVVDSSVAGLGGCPYAQGASGNLATEDLVYMLEGLGIHTGVNLQKLLEAGNFICQALNRKTSSKVAQATCKL

Target ORF information:

RefSeq Version	NM_000191.2
Organism	Homo sapiens(human)
Definition	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMGCL), transcript variant 1, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_000191.2

ORF Insert Sequence:

ATGGCAGCAA TGAGGAAGGC GCTTCCGCGG CGACTGGTGG GCTTGGCGTC CCTCCGGGCT 
GTCAGCACCT CATCTATGGG CACTTTACCA AAGCGGGTGA AAATTGTGGA AGTTGGTCCC 
CGAGATGGAC TACAAAATGA AAAGAATATC GTATCTACTC CAGTGAAAAT CAAGCTGATA 
GACATGCTTT CTGAAGCAGG ACTCTCTGTT ATAGAAACCA CCAGCTTTGT GTCTCCTAAG 
TGGGTTCCCC AGATGGGTGA CCACACTGAA GTCTTGAAGG GCATTCAGAA GTTTCCTGGC 
ATCAACTACC CAGTCCTGAC CCCAAATTTG AAAGGCTTCG AGGCAGCGGT TGCTGCTGGA 
GCCAAGGAAG TAGTCATCTT TGGAGCTGCC TCAGAGCTCT TCACCAAGAA GAACATCAAT 
TGTTCCATAG AGGAGAGTTT TCAGAGGTTT GACGCAATCC TGAAGGCAGC GCAGTCAGCC 
AATATTTCTG TGCGGGGGTA CGTCTCCTGT GCTCTTGGCT GCCCTTATGA AGGGAAGATC 
TCCCCAGCTA AAGTAGCTGA GGTCACCAAG AAGTTCTACT CAATGGGCTG CTACGAGATC 
TCCCTGGGGG ACACCATTGG TGTGGGCACC CCAGGGATCA TGAAAGACAT GCTATCTGCT 
GTCATGCAGG AAGTGCCTCT GGCTGCCCTG GCTGTCCACT GCCATGACAC CTATGGTCAA 
GCCCTGGCCA ACACCTTGAT GGCCCTGCAG ATGGGAGTGA GTGTCGTGGA CTCTTCTGTG 
GCAGGACTTG GAGGCTGTCC CTACGCACAG GGGGCATCAG GAAACTTGGC CACAGAAGAC 
CTGGTCTACA TGCTAGAGGG CTTGGGCATT CACACGGGTG TGAATCTCCA GAAGCTTCTG 
GAAGCTGGAA ACTTTATCTG TCAAGCCCTG AACAGAAAAA CTAGCTCCAA AGTGGCTCAG 
GCTACCTGTA AACTCTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

HMGCL ( NM_001166059.1 ) cDNA ORF clone, Homo sapiens(human) -> NP_001159531.1 Homo sapiens 3-hydroxy-3-methylglutaryl-CoA lyase (HMGCL), transcript variant 2, mRNA.

Price & Availability↑

CloneID	OHu24855
Clone ID Related Accession (Same CDS sequence)	NM_001166059.1
Accession Version	NM_001166059.1 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 765bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-12-24
Organism	Homo sapiens(human)
Product	hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 2 precursor
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA425822.1, L07033.1, BC010570.1, CA306929.1 and BM981610.1. Transcript Variant: This variant is missing two consecutive in-frame coding exons compared to variant 1, resulting in a shorter isoform (2) lacking an internal protein segment compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.459798.1, SRR1163657.34239.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGGCAGCAA TGAGGAAGGC GCTTCCGCGG CGACTGGTGG GCTTGGCGTC CCTCCGGGCT 
GTCAGCACCT CATCTATGGG CACTTTACCA AAGCGGGTGA AAATTGTGGA AGTTGGTCCC 
CGAGATGGAC TACAAAATGA AAAGAATATC GTATCTACTC CAGTGAAAAT CAAGCTGATA 
GACATGCTTT CTGAAGCAGG ACTCTCTGTT ATAGAAACCA CCAGCTTTGT GTCTCCTAAG 
TGGGTTCCCC AGATGGGTGA CCACACTGAA GTCTTGAAGG GCATTCAGAA GTTTCCTGGC 
ATCAACTACC CAGTCCTGAC CCCAAATTTG AAAGGCTTCG AGGCAGCGGT CACCAAGAAG 
TTCTACTCAA TGGGCTGCTA CGAGATCTCC CTGGGGGACA CCATTGGTGT GGGCACCCCA 
GGGATCATGA AAGACATGCT ATCTGCTGTC ATGCAGGAAG TGCCTCTGGC TGCCCTGGCT 
GTCCACTGCC ATGACACCTA TGGTCAAGCC CTGGCCAACA CCTTGATGGC CCTGCAGATG 
GGAGTGAGTG TCGTGGACTC TTCTGTGGCA GGACTTGGAG GCTGTCCCTA CGCACAGGGG 
GCATCAGGAA ACTTGGCCAC AGAAGACCTG GTCTACATGC TAGAGGGCTT GGGCATTCAC 
ACGGGTGTGA ATCTCCAGAA GCTTCTGGAA GCTGGAAACT TTATCTGTCA AGCCCTGAAC 
AGAAAAACTA GCTCCAAAGT GGCTCAGGCT ACCTGTAAAC TCTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_001159531.1
CDS	45..809
Translation	MAAMRKALPRRLVGLASLRAVSTSSMGTLPKRVKIVEVGPRDGLQNEKNIVSTPVKIKLIDMLSEAGLSVIETTSFVSPKWVPQMGDHTEVLKGIQKFPGINYPVLTPNLKGFEAAVTKKFYSMGCYEISLGDTIGVGTPGIMKDMLSAVMQEVPLAALAVHCHDTYGQALANTLMALQMGVSVVDSSVAGLGGCPYAQGASGNLATEDLVYMLEGLGIHTGVNLQKLLEAGNFICQALNRKTSSKVAQATCKL

Target ORF information:

RefSeq Version	NM_001166059.1
Organism	Homo sapiens(human)
Definition	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA lyase (HMGCL), transcript variant 2, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_001166059.1

ORF Insert Sequence:

ATGGCAGCAA TGAGGAAGGC GCTTCCGCGG CGACTGGTGG GCTTGGCGTC CCTCCGGGCT 
GTCAGCACCT CATCTATGGG CACTTTACCA AAGCGGGTGA AAATTGTGGA AGTTGGTCCC 
CGAGATGGAC TACAAAATGA AAAGAATATC GTATCTACTC CAGTGAAAAT CAAGCTGATA 
GACATGCTTT CTGAAGCAGG ACTCTCTGTT ATAGAAACCA CCAGCTTTGT GTCTCCTAAG 
TGGGTTCCCC AGATGGGTGA CCACACTGAA GTCTTGAAGG GCATTCAGAA GTTTCCTGGC 
ATCAACTACC CAGTCCTGAC CCCAAATTTG AAAGGCTTCG AGGCAGCGGT CACCAAGAAG 
TTCTACTCAA TGGGCTGCTA CGAGATCTCC CTGGGGGACA CCATTGGTGT GGGCACCCCA 
GGGATCATGA AAGACATGCT ATCTGCTGTC ATGCAGGAAG TGCCTCTGGC TGCCCTGGCT 
GTCCACTGCC ATGACACCTA TGGTCAAGCC CTGGCCAACA CCTTGATGGC CCTGCAGATG 
GGAGTGAGTG TCGTGGACTC TTCTGTGGCA GGACTTGGAG GCTGTCCCTA CGCACAGGGG 
GCATCAGGAA ACTTGGCCAC AGAAGACCTG GTCTACATGC TAGAGGGCTT GGGCATTCAC 
ACGGGTGTGA ATCTCCAGAA GCTTCTGGAA GCTGGAAACT TTATCTGTCA AGCCCTGAAC 
AGAAAAACTA GCTCCAAAGT GGCTCAGGCT ACCTGTAAAC TCTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

HMGCL ( NM_000191.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_000182.2 Homo sapiens 3-hydroxy-3-methylglutaryl-CoA lyase (HMGCL), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu22369
Clone ID Related Accession (Same CDS sequence)	NM_000191.2 , NM_000191.3
Accession Version	NM_000191.3 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 978bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2020-01-01
Organism	Homo sapiens(human)
Product	hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 1 precursor
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL590728.26, AL031295.1 and AI202943.1. This sequence is a reference standard in the RefSeqGene project. On Nov 23, 2018 this sequence version replaced NM_000191.2. Transcript Variant: This variant (1) encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.750542.1, SRR5189652.81976.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000374490.8/ ENSP00000363614.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGCAGCAA TGAGGAAGGC GCTTCCGCGG CGACTGGTGG GCTTGGCGTC CCTCCGGGCT 
GTCAGCACCT CATCTATGGG CACTTTACCA AAGCGGGTGA AAATTGTGGA AGTTGGTCCC 
CGAGATGGAC TACAAAATGA AAAGAATATC GTATCTACTC CAGTGAAAAT CAAGCTGATA 
GACATGCTTT CTGAAGCAGG ACTCTCTGTT ATAGAAACCA CCAGCTTTGT GTCTCCTAAG 
TGGGTTCCCC AGATGGGTGA CCACACTGAA GTCTTGAAGG GCATTCAGAA GTTTCCTGGC 
ATCAACTACC CAGTCCTGAC CCCAAATTTG AAAGGCTTCG AGGCAGCGGT TGCTGCTGGA 
GCCAAGGAAG TAGTCATCTT TGGAGCTGCC TCAGAGCTCT TCACCAAGAA GAACATCAAT 
TGTTCCATAG AGGAGAGTTT TCAGAGGTTT GACGCAATCC TGAAGGCAGC GCAGTCAGCC 
AATATTTCTG TGCGGGGGTA CGTCTCCTGT GCTCTTGGCT GCCCTTATGA AGGGAAGATC 
TCCCCAGCTA AAGTAGCTGA GGTCACCAAG AAGTTCTACT CAATGGGCTG CTACGAGATC 
TCCCTGGGGG ACACCATTGG TGTGGGCACC CCAGGGATCA TGAAAGACAT GCTATCTGCT 
GTCATGCAGG AAGTGCCTCT GGCTGCCCTG GCTGTCCACT GCCATGACAC CTATGGTCAA 
GCCCTGGCCA ACACCTTGAT GGCCCTGCAG ATGGGAGTGA GTGTCGTGGA CTCTTCTGTG 
GCAGGACTTG GAGGCTGTCC CTACGCACAG GGGGCATCAG GAAACTTGGC CACAGAAGAC 
CTGGTCTACA TGCTAGAGGG CTTGGGCATT CACACGGGTG TGAATCTCCA GAAGCTTCTG 
GAAGCTGGAA ACTTTATCTG TCAAGCCCTG AACAGAAAAA CTAGCTCCAA AGTGGCTCAG 
GCTACCTGTA AACTCTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_000182.2
CDS	15..992
Translation	MAAMRKALPRRLVGLASLRAVSTSSMGTLPKRVKIVEVGPRDGLQNEKNIVSTPVKIKLIDMLSEAGLSVIETTSFVSPKWVPQMGDHTEVLKGIQKFPGINYPVLTPNLKGFEAAVAAGAKEVVIFGAASELFTKKNINCSIEESFQRFDAILKAAQSANISVRGYVSCALGCPYEGKISPAKVAEVTKKFYSMGCYEISLGDTIGVGTPGIMKDMLSAVMQEVPLAALAVHCHDTYGQALANTLMALQMGVSVVDSSVAGLGGCPYAQGASGNLATEDLVYMLEGLGIHTGVNLQKLLEAGNFICQALNRKTSSKVAQATCKL

Target ORF information:

RefSeq Version	NM_000191.3
Organism	Homo sapiens(human)
Definition	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA lyase (HMGCL), transcript variant 1, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_000191.3

ORF Insert Sequence:

ATGGCAGCAA TGAGGAAGGC GCTTCCGCGG CGACTGGTGG GCTTGGCGTC CCTCCGGGCT 
GTCAGCACCT CATCTATGGG CACTTTACCA AAGCGGGTGA AAATTGTGGA AGTTGGTCCC 
CGAGATGGAC TACAAAATGA AAAGAATATC GTATCTACTC CAGTGAAAAT CAAGCTGATA 
GACATGCTTT CTGAAGCAGG ACTCTCTGTT ATAGAAACCA CCAGCTTTGT GTCTCCTAAG 
TGGGTTCCCC AGATGGGTGA CCACACTGAA GTCTTGAAGG GCATTCAGAA GTTTCCTGGC 
ATCAACTACC CAGTCCTGAC CCCAAATTTG AAAGGCTTCG AGGCAGCGGT TGCTGCTGGA 
GCCAAGGAAG TAGTCATCTT TGGAGCTGCC TCAGAGCTCT TCACCAAGAA GAACATCAAT 
TGTTCCATAG AGGAGAGTTT TCAGAGGTTT GACGCAATCC TGAAGGCAGC GCAGTCAGCC 
AATATTTCTG TGCGGGGGTA CGTCTCCTGT GCTCTTGGCT GCCCTTATGA AGGGAAGATC 
TCCCCAGCTA AAGTAGCTGA GGTCACCAAG AAGTTCTACT CAATGGGCTG CTACGAGATC 
TCCCTGGGGG ACACCATTGG TGTGGGCACC CCAGGGATCA TGAAAGACAT GCTATCTGCT 
GTCATGCAGG AAGTGCCTCT GGCTGCCCTG GCTGTCCACT GCCATGACAC CTATGGTCAA 
GCCCTGGCCA ACACCTTGAT GGCCCTGCAG ATGGGAGTGA GTGTCGTGGA CTCTTCTGTG 
GCAGGACTTG GAGGCTGTCC CTACGCACAG GGGGCATCAG GAAACTTGGC CACAGAAGAC 
CTGGTCTACA TGCTAGAGGG CTTGGGCATT CACACGGGTG TGAATCTCCA GAAGCTTCTG 
GAAGCTGGAA ACTTTATCTG TCAAGCCCTG AACAGAAAAA CTAGCTCCAA AGTGGCTCAG 
GCTACCTGTA AACTCTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

Inactivation of HMGCL promotes proliferation and metastasis of nasopharyngeal carcinoma by suppressing oxidative stress.
Scientific reports7(1)11954(2017 Sep)
Luo W,Qin L,Li B,Liao Z,Liang J,Xiao X,Xiao X,Mo Y,Huang G,Zhang Z,Zhou X,Li P

HMG-CoA synthase 1 is a synthetic lethal partner of BRAF
The Journal of biological chemistry292(24)10142-10152(2017 06)
Zhao L,Fan J,Xia S,Pan Y,Liu S,Qian G,Qian Z,Kang HB,Arbiser JL,Pollack BP,Kudchadkar RR,Lawson DH,Rossi M,Abdel-Wahab O,Merghoub T,Khoury HJ,Khuri FR,Boise LH,Lonial S,Chen F,Chen J,Lin R

3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation.
Indian journal of pediatrics82(7)645-8(2015 Jul)
K?ksal T,G?nd?z M,?zayd?n E,Azak E

Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
International journal of molecular medicine35(6)1554-60(2015 Jun)
Aoyama Y,Yamamoto T,Sakaguchi N,Ishige M,Tanaka T,Ichihara T,Ohara K,Kouzan H,Kinosada Y,Fukao T

Measurement of HMG CoA reductase activity in different human cell lines by ultra-performance liquid chromatography tandem mass spectrometry.
Biochemical and biophysical research communications443(2)641-5(2014 Jan)
Kuzaj P,Kuhn J,Faust I,Knabbe C,Hendig D