Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	26061
Gene name	2-hydroxyacyl-CoA lyase 1
Gene symbol	HACL1
Synonyms (NCBI Gene)	2-HPCLHPCLHPCL2PHYH2
Chromosome	3
Chromosome location	3p25.1

miRTarBase ID	miRNA	Experiments	Reference
MIRT047020	hsa-miR-204-5p	CLASH	23622248
MIRT038899	hsa-miR-93-3p	CLASH	23622248
MIRT2008426	hsa-miR-4311	CLIP-seq
MIRT2008426	hsa-miR-4311	CLIP-seq

34 Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IDA	15644336
GO:0000287	Function	Magnesium ion binding	IEA
GO:0001561	Process	Fatty acid alpha-oxidation	IBA
GO:0001561	Process	Fatty acid alpha-oxidation	IDA	10468558, 15644336, 21708296, 28289220
GO:0001561	Process	Fatty acid alpha-oxidation	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 32296183
GO:0005524	Function	ATP binding	IDA	15644336
GO:0005654	Component	Nucleoplasm	IDA
GO:0005777	Component	Peroxisome	IBA
GO:0005777	Component	Peroxisome	IDA	10468558, 14561759, 21708296, 28289220
GO:0005777	Component	Peroxisome	IEA
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006625	Process	Protein targeting to peroxisome	IMP	10468558
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IDA	28289220
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016830	Function	Carbon-carbon lyase activity	IDA	10468558, 15644336
GO:0016830	Function	Carbon-carbon lyase activity	IEA
GO:0016830	Function	Carbon-carbon lyase activity	IMP	28289220
GO:0030976	Function	Thiamine pyrophosphate binding	IBA
GO:0030976	Function	Thiamine pyrophosphate binding	IDA	10468558
GO:0030976	Function	Thiamine pyrophosphate binding	IEA
GO:0030976	Function	Thiamine pyrophosphate binding	IMP	21708296
GO:0042802	Function	Identical protein binding	IPI	16189514, 21708296, 25416956
GO:0046872	Function	Metal ion binding	IEA
GO:0097089	Process	Methyl-branched fatty acid metabolic process	IDA	21708296, 28289220
GO:0106359	Function	2-hydroxyacyl-CoA lyase activity	IEA
GO:0106359	Function	2-hydroxyacyl-CoA lyase activity	IMP	21708296
GO:0106376	Function	2-hydroxyphytanoyl-CoA lyase activity	IEA
GO:1903512	Process	Phytanic acid metabolic process	IDA	28289220

MIM	HGNC	e!Ensembl
604300	17856	ENSG00000131373

Q9UJ83

Protein name

2-hydroxyacyl-CoA lyase 1 (EC 4.1.2.63) (2-hydroxyphytanoyl-CoA lyase) (2-HPCL) (Phytanoyl-CoA 2-hydroxylase 2)

Protein function

Peroxisomal 2-OH acyl-CoA lyase involved in the cleavage (C1 removal) reaction in the fatty acid alpha-oxydation in a thiamine pyrophosphate (TPP)-dependent manner (PubMed:10468558, PubMed:21708296, PubMed:28289220). Involved in the degradation

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00205	TPP_enzyme_M	203 → 332	Thiamine pyrophosphate enzyme, central domain	Domain
PF02775	TPP_enzyme_C	397 → 557	Thiamine pyrophosphate enzyme, C-terminal TPP binding domain	Domain
PF02776	TPP_enzyme_N	14 → 183	Thiamine pyrophosphate enzyme, N-terminal TPP binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10468558, ECO:0000269|PubMed:28289220}.

Sequence

MPDSNFAERSEEQVSGAKVIAQALKTQDVEYIFGIVGIPVTEIAIAAQQLGIKYIGMRNE
QAACYAASAIGYLTSRPGVCLVVSGPGLIHALGGMANANMNCWPLLVIGGSSERNQETMG
AFQEFPQVEACRLYTKFSARPSSIEAIPFVIEKAVRSSIYGRPGACYVDIPADFVNLQVN
VNSIKYMERCMSPPISMAETSAVCTAASVIRNAKQPLLIIGKGAAYAHAEESIKKLVEQY
KLPFLPTPMGKGVVPDNHPYCVGAARSRALQFADVIVLFGARLNWILHFGLPPRYQPDVK
FIQVDICAEELGNNVKPAVTLLGNIHAVTKQLLEELDKTPWQYPPESKWWKTLREKMKSN
EAASKELASKKSLPMNYYTVFYHVQEQLPRDCFVVSEGANTMDIGRTVLQNYLPRHRLDA
GTFGTMGVGLGFAIAAAVVAKDRSPGQWIICVEGDSAFGFSGMEVETICRYNLPIILLVV
NNNGIYQGFDTDTWKEMLKFQDATAVVPPMCLLPNSHYEQVMTAFGGKGYFVQTPEELQK
SLRQSLADTTKPSLINIMIEPQATRKAQDFHWLTRSNM

Sequence length

578

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Peroxisome	Alpha-oxidation of phytanate
	Peroxisomal protein import

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)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (13)
Acute myeloid leukemia	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	39998322	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	26881866	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HACL1-related disorder	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

HACL1 (2-hydroxyacyl-CoA lyase 1)

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