Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	54511
Gene name	3-hydroxy-3-methylglutaryl-CoA lyase like 1
Gene symbol	HMGCLL1
Synonyms (NCBI Gene)	ERCHLbA418P12.1er-cHL
Chromosome	6
Chromosome location	6p12.1

Show/Hide all (49)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019060	hsa-miR-335-5p	Microarray	18185580
MIRT724281	hsa-miR-6729-3p	HITS-CLIP	19536157
MIRT724280	hsa-miR-345-3p	HITS-CLIP	19536157
MIRT724279	hsa-miR-4732-3p	HITS-CLIP	19536157
MIRT724278	hsa-miR-125a-5p	HITS-CLIP	19536157
MIRT724277	hsa-miR-125b-5p	HITS-CLIP	19536157
MIRT724276	hsa-miR-4319	HITS-CLIP	19536157
MIRT724275	hsa-miR-6072	HITS-CLIP	19536157
MIRT724274	hsa-miR-6891-3p	HITS-CLIP	19536157
MIRT724273	hsa-miR-5193	HITS-CLIP	19536157
MIRT724272	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT724271	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT724270	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT724269	hsa-miR-6870-3p	HITS-CLIP	19536157
MIRT724268	hsa-miR-1976	HITS-CLIP	19536157
MIRT724267	hsa-miR-4268	HITS-CLIP	19536157
MIRT724266	hsa-miR-4448	HITS-CLIP	19536157
MIRT724265	hsa-miR-670-5p	HITS-CLIP	19536157
MIRT724264	hsa-miR-6772-3p	HITS-CLIP	19536157
MIRT447458	hsa-miR-4635	PAR-CLIP	22100165
MIRT447459	hsa-miR-5585-3p	PAR-CLIP	22100165
MIRT724281	hsa-miR-6729-3p	HITS-CLIP	19536157
MIRT724280	hsa-miR-345-3p	HITS-CLIP	19536157
MIRT724279	hsa-miR-4732-3p	HITS-CLIP	19536157
MIRT724278	hsa-miR-125a-5p	HITS-CLIP	19536157
MIRT724277	hsa-miR-125b-5p	HITS-CLIP	19536157
MIRT724276	hsa-miR-4319	HITS-CLIP	19536157
MIRT724275	hsa-miR-6072	HITS-CLIP	19536157
MIRT724274	hsa-miR-6891-3p	HITS-CLIP	19536157
MIRT724273	hsa-miR-5193	HITS-CLIP	19536157
MIRT724272	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT724271	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT724270	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT724269	hsa-miR-6870-3p	HITS-CLIP	19536157
MIRT724268	hsa-miR-1976	HITS-CLIP	19536157
MIRT724267	hsa-miR-4268	HITS-CLIP	19536157
MIRT724266	hsa-miR-4448	HITS-CLIP	19536157
MIRT724265	hsa-miR-670-5p	HITS-CLIP	19536157
MIRT724264	hsa-miR-6772-3p	HITS-CLIP	19536157
MIRT447458	hsa-miR-4635	PAR-CLIP	22100165
MIRT447459	hsa-miR-5585-3p	PAR-CLIP	22100165
MIRT2011334	hsa-miR-3128	CLIP-seq
MIRT2011335	hsa-miR-3617	CLIP-seq
MIRT2011336	hsa-miR-4263	CLIP-seq
MIRT2011337	hsa-miR-4282	CLIP-seq
MIRT2011338	hsa-miR-4720-5p	CLIP-seq
MIRT2011339	hsa-miR-4799-3p	CLIP-seq
MIRT2011340	hsa-miR-513a-3p	CLIP-seq
MIRT2011341	hsa-miR-641	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004419	Function	Hydroxymethylglutaryl-CoA lyase activity	IBA
GO:0004419	Function	Hydroxymethylglutaryl-CoA lyase activity	IDA	22847177, 22865860
GO:0004419	Function	Hydroxymethylglutaryl-CoA lyase activity	IEA
GO:0004419	Function	Hydroxymethylglutaryl-CoA lyase activity	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	22847177
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	22847177
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006552	Process	L-leucine catabolic process	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0016020	Component	Membrane	IDA	22865860
GO:0016020	Component	Membrane	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016833	Function	Oxo-acid-lyase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046872	Function	Metal ion binding	ISS
GO:0046872	Function	Metal ion binding	TAS	22865860
GO:0046951	Process	Ketone body biosynthetic process	IBA
GO:0046951	Process	Ketone body biosynthetic process	IDA	22847177, 22865860
GO:0046951	Process	Ketone body biosynthetic process	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	22865860

MIM	HGNC	e!Ensembl
619050	21359	ENSG00000146151

Q8TB92

Protein name

3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic (EC 4.1.3.4) (3-hydroxy-3-methylglutaryl-CoA lyase-like protein 1) (HMGCL-like 1) (Endoplasmic reticulum 3-hydroxy-3-methylglutaryl-CoA lyase) (er-cHL)

Protein function

Non-mitochondrial 3-hydroxy-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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00682	HMGL-like	77 → 351	HMGL-like	Domain

Sequence

MGNVPSAVKHCLSYQQLLREHLWIGDSVAGALDPAQTSLLTNLHCFQPDVSGFSVSLAGT
VACIHWETSQLSGLPEFVKIVEVGPRDGLQNEKVIVPTDIKIEFINRLSQTGLSVIEVTS
FVSSRWVPQMADHTEVMKGIHQYPGVRYPVLTPNLQGFHHAVAAGATEISVFGAASESFS
KKNINCSIEESMGKFEEVVKSARHMNIPARGYVSCALGCPYEGSITPQKVTEVSKRLYGM
GCYEISLGDTIGVGTPGSMKRMLESVMKEIPPGALAVHCHDTYGQALANILTALQMGINV
VDSAVSGLGGCPYAKGASGNVATEDLIYMLNGLGLNTGVNLYKVMEAGDFICKAVNKTTN
SKVAQASFNA

Sequence length

370

Interactions

View interactions

	KEGG		Reactome
	Valine, leucine and isoleucine degradation Butanoate metabolism Metabolic pathways Peroxisome		Synthesis of Ketone Bodies

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COLORECTAL ADENOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICOURETERAL REFLUX	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	30555164		★★★★★ ★☆☆☆☆ Found in Text Mining only

HMGCLL1 (3-hydroxy-3-methylglutaryl-CoA lyase like 1)