HACL1 - 2-hydroxyacyl-CoA lyase 1 Gene
Also Known as HPCL; HPCL2; PHYH2; 2-HPCL
Species: Homo sapiens
About HACL1
This gene has 13 transcripts (splice variants), 207 orthologues and 1 paralogue. Ubiquitous expression in duodenum (RPKM 25.3), testis (RPKM 14.8) and 25 other tissues.
Summary
Enables several functions, including 2-hydroxy-3-methylhexadecanoyl-CoA lyase activity; ATP binding activity; and cation binding activity. Involved in fatty acid alpha-oxidation; phytanic acid metabolic process; and protein targeting to peroxisome. Located in nucleoplasm and peroxisome. [provided by Alliance of Genome Resources, Apr 2022]
HACL1 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001284413.2 | NP_001271342.1 | 2-hydroxyacyl-CoA lyase 1 isoform b |
| NM_001284415.2 | NP_001271344.1 | 2-hydroxyacyl-CoA lyase 1 isoform c |
| NM_001284416.2 | NP_001271345.1 | 2-hydroxyacyl-CoA lyase 1 isoform d |
| NM_012260.4 | NP_036392.2 | 2-hydroxyacyl-CoA lyase 1 isoform a |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables 2-hydroxyacyl-CoA lyase activity |
IMP
IMP: Inferred from mutant phenotype
|
21708296 | GOA |
| enables ATP binding |
IDA
IDA: Inferred from direct assay
|
15644336 | GOA |
| enables carbon-carbon lyase activity |
IDA
IDA: Inferred from direct assay
|
10468558 | GOA |
| enables carbon-carbon lyase activity |
IMP
IMP: Inferred from mutant phenotype
|
28289220 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
16189514 | GOA |
| enables magnesium ion binding |
IDA
IDA: Inferred from direct assay
|
15644336 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16189514 | GOA |
| enables thiamine pyrophosphate binding |
IDA
IDA: Inferred from direct assay
|
10468558 | GOA |
| enables thiamine pyrophosphate binding |
IMP
IMP: Inferred from mutant phenotype
|
21708296 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in fatty acid alpha-oxidation |
IDA
IDA: Inferred from direct assay
|
10468558 | GOA |
| involved in fatty acid metabolic process |
IDA
IDA: Inferred from direct assay
|
28289220 | GOA |
| involved in methyl-branched fatty acid metabolic process |
IDA
IDA: Inferred from direct assay
|
21708296 | GOA |
| involved in phytanic acid metabolic process |
IDA
IDA: Inferred from direct assay
|
28289220 | GOA |
| involved in protein targeting to peroxisome |
IMP
IMP: Inferred from mutant phenotype
|
10468558 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| located in peroxisome |
IDA
IDA: Inferred from direct assay
|
10468558 | GOA |
HACL1 Protein Structure
TPP_enzyme_N: Thiamine pyrophosphate enzyme, N-terminal TPP binding domain (15 - 180)
TPP_enzyme_M: Thiamine pyrophosphate enzyme, central domain (205 - 332)
TPP_enzyme_C: Thiamine pyrophosphate enzyme, C-terminal TPP binding domain (400 - 557)
- 0
- 100
- 200
- 300
- 400
- 500
- 578 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
2-hydroxyacyl-CoA lyase 1 |
|
HACL1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
HACL1 | Q9UJ83 | MAGEB6 | Homo sapiens | Q8N7X4 | 25416956 | |
|
Intra
|
HACL1 | Q9UJ83 | MAGEB6 | Homo sapiens | Q8N7X4 | 25416956 | |
|
Intra
|
HACL1 | Q9UJ83 | MAGEB6 | Homo sapiens | Q8N7X4 | 25416956 | |
|
Intra
|
HACL1 | Q9UJ83 | SMARCB1 | Homo sapiens | Q12824 | 27229929 | |
|
Intra
|
HACL1 | Q9UJ83 | HACL1 | Homo sapiens | Q9UJ83 | 16189514 | |
|
Intra
|
HACL1 | Q9UJ83 | ZMYND19 | Homo sapiens | Q96E35 | 25416956 | |
|
Intra
|
HACL1 | Q9UJ83 | PLXDC2 | Homo sapiens | Q6UX71 | 33961781 | |
|
Intra
|
HACL1 | Q9UJ83 | ZMYND19 | Homo sapiens | Q96E35 | 25416956 | |
|
Intra
|
HACL1 | Q9UJ83 | CFTR | Homo sapiens | P13569 | 35156780 | |
|
Intra
|
HACL1 | Q9UJ83 | RNA15 | Saccharomyces cerevisiae | P25299 | 27107014 | |
|
Intra
|
HACL1 | Q9UJ83 | HACL1 | Homo sapiens | Q9UJ83 | 25416956 | |
|
Intra
|
HACL1 | Q9UJ83 | PLXDC2 | Homo sapiens | Q6UX71 | 28514442 | |
|
Intra
|
HACL1 | Q9UJ83 | ZMYND19 | Homo sapiens | Q96E35 | 25416956 | |
|
Intra
|
HACL1 | Q9UJ83 | RNA15 | Saccharomyces cerevisiae | P25299 | 27107014 | |
|
Intra
|
HACL1 | Q9UJ83 | ZMYND19 | Homo sapiens | Q96E35 | 16189514 | |
|
Intra
|
HACL1 | Q9UJ83 | ASPSCR1 | Homo sapiens | Q9BZE9-2 | 28514442 | |
|
Intra
|
HACL1 | Q9UJ83 | HACL1 | Homo sapiens | Q9UJ83 | 16189514 | |
|
Intra
|
HACL1 | Q9UJ83 | ASPSCR1 | Homo sapiens | Q9BZE9 | 33961781 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Conjugate Gaze Palsy |
|
|
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
|
| Zellweger Syndrome |
|
|
| Wet Beriberi |
|
|
| Dry Beriberi |
|
|
| Beriberi |
|
|
| Wernicke-Korsakoff Syndrome |
|
|
| Sjogren-Larsson Syndrome |
|
|
| Thiamine Deficiency Disease |
|
|
| Refsum Disease, Classic |
|
|
| Peroxisomal Biogenesis Disorder |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | HACL1 | VGNC | VGNC:62749 |
| Bos taurus | HACL1 | VGNC | VGNC:29740 |
| Mus musculus | HACL1 | MGD | MGI:1929657 |
| Rattus norvegicus | HACL1 | RGD | RGD:619849 |
| Macaca mulatta | HACL1 | VGNC | VGNC:73187 |
| Others | HACL1 | NCBI |