• Gene id: 26061

Gene Summary

• Gene Symbol: HACL1   Gene   UCSC   Ensembl
• Aliases: 2-HPCL, HPCL, HPCL2, PHYH2
• Gene name: 2-hydroxyacyl-CoA lyase 1
• Alternate names: 2-hydroxyacyl-CoA lyase 1, 1600020H07Rik, 2-hydroxyphytanol-CoA lyase, 2-hydroxyphytanoyl-CoA lyase, phytanoyl-CoA 2-hydroxylase 2, phytanoyl-CoA hydroxylase 2,
• Gene location: 3p25.1 (43056298: 43085787)     Exons: 9     NC_000008.11
• OMIM: 604300

Protein Summary

• Protein general information: Q9UJ83  
  • Name: 2 hydroxyacyl CoA lyase 1 (EC 4.1.2.n2) (2 hydroxyphytanoyl CoA lyase) (2 HPCL) (Phytanoyl CoA 2 hydroxylase 2)
  • Length: 578  
  • Mass: 63729
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MPDSNFAERSEEQVSGAKVIAQALKTQDVEYIFGIVGIPVTEIAIAAQQLGIKYIGMRNEQAACYAASAIGYLTS
  RPGVCLVVSGPGLIHALGGMANANMNCWPLLVIGGSSERNQETMGAFQEFPQVEACRLYTKFSARPSSIEAIPFV
  IEKAVRSSIYGRPGACYVDIPADFVNLQVNVNSIKYMERCMSPPISMAETSAVCTAASVIRNAKQPLLIIGKGAA
  YAHAEESIKKLVEQYKLPFLPTPMGKGVVPDNHPYCVGAARSRALQFADVIVLFGARLNWILHFGLPPRYQPDVK
  FIQVDICAEELGNNVKPAVTLLGNIHAVTKQLLEELDKTPWQYPPESKWWKTLREKMKSNEAASKELASKKSLPM
  NYYTVFYHVQEQLPRDCFVVSEGANTMDIGRTVLQNYLPRHRLDAGTFGTMGVGLGFAIAAAVVAKDRSPGQWII
  CVEGDSAFGFSGMEVETICRYNLPIILLVVNNNGIYQGFDTDTWKEMLKFQDATAVVPPMCLLPNSHYEQVMTAF
  GGKGYFVQTPEELQKSLRQSLADTTKPSLINIMIEPQATRKAQDFHWLTRSNM

• Structural information:
  • Interpro: IPR029035  IPR029061  IPR012000  IPR012001  IPR011766  
  • STRING: ENSP00000323811
• Other Databases: GeneCards:  HACL1  Malacards:  HACL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030976	thiamine pyrophosphate binding	IDA	molecular function
GO:0016830	carbon-carbon lyase activity	IDA	molecular function
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0001561	fatty acid alpha-oxidation	IDA	biological process
GO:0030976	thiamine pyrophosphate binding	IBA	molecular function
GO:0016830	carbon-carbon lyase activity	IBA	molecular function
GO:0005777	peroxisome	IBA	cellular component
GO:0001561	fatty acid alpha-oxidation	IBA	biological process
GO:0097089	methyl-branched fatty acid metabolic process	IDA	biological process
GO:0001561	fatty acid alpha-oxidation	IDA	biological process
GO:0006631	fatty acid metabolic process	IDA	biological process
GO:1903512	phytanic acid metabolic process	IDA	biological process
GO:0097089	methyl-branched fatty acid metabolic process	IDA	biological process
GO:0001561	fatty acid alpha-oxidation	IDA	biological process
GO:0005777	peroxisome	IDA	cellular component
GO:0016830	carbon-carbon lyase activity	IMP	molecular function
GO:0006625	protein targeting to peroxisome	IMP	biological process
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0030976	thiamine pyrophosphate binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0005777	peroxisome	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0001561	fatty acid alpha-oxidation	TAS	biological process
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006625	protein targeting to peroxisome	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030976	thiamine pyrophosphate binding	IEA	molecular function
GO:0097089	methyl-branched fatty acid metabolic process	IEA	biological process
GO:0001561	fatty acid alpha-oxidation	IEA	biological process
GO:0005777	peroxisome	IEA	cellular component
GO:0016830	carbon-carbon lyase activity	IEA	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0030976	thiamine pyrophosphate binding	IDA	molecular function
GO:0005777	peroxisome	IDA	cellular component
GO:0016830	carbon-carbon lyase activity	IDA	molecular function
GO:0016830	carbon-carbon lyase activity	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0001561	fatty acid alpha-oxidation	IDA	biological process
GO:0042802	identical protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04146	Peroxisome

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R