• Gene id: 9200

Gene Summary

• Gene Symbol: HACD1   Gene   UCSC   Ensembl
• Aliases: CAP, PTPLA
• Gene name: 3-hydroxyacyl-CoA dehydratase 1
• Alternate names: very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1, cementum attachment protein, protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A, very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 1,
• Gene location: 10p12.33 (17617373: 17589031)     Exons: 7     NC_000010.11
• Gene summary(Entrez): The protein encoded by this gene contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a d
• OMIM: 610467

Protein Summary

• Protein general information: B0YJ81  
  • Name: Very long chain (3R) 3 hydroxyacyl CoA dehydratase 1 (EC 4.2.1.134) (3 hydroxyacyl CoA dehydratase 1) (HACD1) (Cementum attachment protein) (CAP) (Protein tyrosine phosphatase like member A)
  • Length: 288  
  • Mass: 32388
  • Tissue specificity: Isoform 1 is highly expressed in the myocardium, and to a lesser extent in skeletal and smooth muscular tissues including those from stomach, jejunum, and bladder. Also detected in gingival fibroblasts, periodontal ligament cells, oste
• Sequence:

  MGRLTEAAAAGSGSRAAGWAGSPPTLLPLSPTSPRCAATMASSDEDGTNGGASEAGEDREAPGERRRLGVLATAW
  LTFYDIAMTAGWLVLAIAMVRFYMEKGTHRGLYKSIQKTLKFFQTFALLEIVHCLIGIVPTSVIVTGVQVSSRIF
  MVWLITHSIKPIQNEESVVLFLVAWTVTEITRYSFYTFSLLDHLPYFIKWARYNFFIILYPVGVAGELLTIYAAL
  PHVKKTGMFSIRLPNKYNVSFDYYYFLLITMASYIPLFPQLYFHMLRQRRKVLHGEVIVEKDD

• Structural information:
  • Interpro: IPR007482  
  • STRING: ENSP00000355308
• Other Databases: GeneCards:  HACD1  Malacards:  HACD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0018812	3-hydroxyacyl-CoA dehydratase activity	IBA	molecular function
GO:0030148	sphingolipid biosynthetic process	IBA	biological process
GO:0030497	fatty acid elongation	IBA	biological process
GO:0042761	very long-chain fatty acid biosynthetic process	IBA	biological process
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016829	lyase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0102158	very-long-chain 3-hydroxyacyl-CoA dehydratase activity	IEA	molecular function
GO:0102345	3-hydroxy-lignoceroyl-CoA dehydratase activity	IEA	molecular function
GO:0102344	3-hydroxy-behenoyl-CoA dehydratase activity	IEA	molecular function
GO:0102343	3-hydroxy-arachidoyl-CoA dehydratase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0035338	long-chain fatty-acyl-CoA biosynthetic process	TAS	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006633	fatty acid biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01212	Fatty acid metabolism
hsa01040	Biosynthesis of unsaturated fatty acids
hsa00062	Fatty acid elongation

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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