HACL1 (2-hydroxyacyl-CoA lyase 1)

Gene

• Entrez ID: 26061
• Gene name: 2-hydroxyacyl-CoA lyase 1
• Gene symbol: HACL1
• Synonyms (NCBI Gene): 2-HPCL, HPCL, HPCL2, PHYH2
• Chromosome: 3
• Chromosome location: 3p25.1

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 604300
• HGNC: 17856
• e!Ensembl: 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

Pathways

KEGG:

Peroxisome

Reactome:

Alpha-oxidation of phytanate
Peroxisomal protein import

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ 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

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Diabetes Mellitus Type 2	Associate	36329257	★☆☆☆☆ Found in Text Mining only