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	26061
Gene name	2-hydroxyacyl-CoA lyase 1
Gene symbol	HACL1
Synonyms (NCBI Gene)	2-HPCLHPCLHPCL2PHYH2
Chromosome	3
Chromosome location	3p25.1

Show/Hide all (4)

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

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
PF02776	TPP_enzyme_N	14 → 183	Thiamine pyrophosphate enzyme, N-terminal TPP binding domain	Domain
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

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		Reactome
	Peroxisome		Alpha-oxidation of phytanate Peroxisomal protein import

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs74637339	RCV005935486
Colon adenocarcinoma	Benign	rs74637339	RCV005935485
Colorectal cancer	Benign	rs74637339	RCV005935489
Germ cell tumor of testis	Benign	rs74637339	RCV005935493
HACL1-related disorder	Likely benign; Benign	rs186020952, rs367905313, rs141479215, rs74637339, rs905650, rs2271020, rs111333255, rs567749845, rs146264180, rs374867050, rs200924343	RCV003954177 RCV003894749 RCV003919714 RCV003973871 RCV003974013 RCV003959603 RCV003972052 RCV003971397 RCV003956851 RCV003976891 RCV003976390
Malignant lymphoma, large B-cell, diffuse	Benign	rs74637339	RCV005935488
Melanoma	Benign	rs74637339	RCV005935492
Nonpapillary renal cell carcinoma	Benign	rs74637339	RCV005935487
Sarcoma	Benign	rs74637339	RCV005935490
Thymoma	Benign	rs74637339	RCV005935491
Uterine corpus endometrial carcinoma	Benign	rs74637339	RCV005935494

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Diabetes Mellitus Type 2	Associate	36329257

HACL1 (2-hydroxyacyl-CoA lyase 1)