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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	26061
Gene name Gene Name - the full gene name approved by the HGNC.	2-hydroxyacyl-CoA lyase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HACL1
Synonyms (NCBI Gene) Gene synonyms aliases	2-HPCL, HPCL, HPCL2, PHYH2
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	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(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IDA	15644336
GO:0001561	Process	Fatty acid alpha-oxidation	IBA	21873635
GO:0001561	Process	Fatty acid alpha-oxidation	IDA	10468558, 15644336, 21708296, 28289220
GO:0001561	Process	Fatty acid alpha-oxidation	TAS
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	21873635
GO:0005777	Component	Peroxisome	IDA	10468558, 14561759, 21708296, 28289220
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006625	Process	Protein targeting to peroxisome	IMP	10468558
GO:0006625	Process	Protein targeting to peroxisome	TAS
GO:0006631	Process	Fatty acid metabolic process	IDA	28289220
GO:0016830	Function	Carbon-carbon lyase activity	IDA	10468558, 15644336, 21708296
GO:0016830	Function	Carbon-carbon lyase activity	IMP	28289220
GO:0030976	Function	Thiamine pyrophosphate binding	IBA	21873635
GO:0030976	Function	Thiamine pyrophosphate binding	IDA	10468558, 21708296
GO:0042802	Function	Identical protein binding	IPI	16189514, 21708296, 25416956
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0097089	Process	Methyl-branched fatty acid metabolic process	IDA	21708296, 28289220
GO:1903512	Process	Phytanic acid metabolic process	IDA	28289220

MIM	HGNC	e!Ensembl
604300	17856	ENSG00000131373

Protein

UniProt ID

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 Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039	26881866

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Alzheimer disease	Alzheimer disease			GWAS

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text Mining
Diabetes Mellitus Type 2	Associate	36329257

HACL1 (2-hydroxyacyl-CoA lyase 1)