• Gene id: 51495

Gene Summary

• Gene Symbol: HACD3   Gene   UCSC   Ensembl
• Aliases: B-IND1, BIND1, HSPC121, PTPLAD1
• Gene name: 3-hydroxyacyl-CoA dehydratase 3
• Alternate names: very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3, butyrate-induced protein 1, butyrate-induced transcript 1, protein tyrosine phosphatase-like A domain containing 1, protein tyrosine phosphatase-like protein PTPLAD1, protein-tyrosine phosphatase-like A dom,
• Gene location: 15q22.31 (65530462: 65578354)     Exons: 13     NC_000015.10
• OMIM: 615940

Protein Summary

• Protein general information: Q9P035  
  • Name: Very long chain (3R) 3 hydroxyacyl CoA dehydratase 3 (EC 4.2.1.134) (3 hydroxyacyl CoA dehydratase 3) (HACD3) (Butyrate induced protein 1) (B ind1) (hB ind1) (Protein tyrosine phosphatase like A domain containing protein 1)
  • Length: 362  
  • Mass: 43160
  • Tissue specificity: Highly expressed in testis, kidney, brain, liver and weakly in skeletal muscle, spleen and heart. No expression detected in leukocytes. {ECO
• Sequence:

  MENQVLTPHVYWAQRHRELYLRVELSDVQNPAISITENVLHFKAQGHGAKGDNVYEFHLEFLDLVKPEPVYKLTQ
  RQVNITVQKKVSQWWERLTKQEKRPLFLAPDFDRWLDESDAEMELRAKEEERLNKLRLESEGSPETLTNLRKGYL
  FMYNLVQFLGFSWIFVNLTVRFCILGKESFYDTFHTVADMMYFCQMLAVVETINAAIGVTTSPVLPSLIQLLGRN
  FILFIIFGTMEEMQNKAVVFFVFYLWSAIEIFRYSFYMLTCIDMDWKVLTWLRYTLWIPLYPLGCLAEAVSVIQS
  IPIFNETGRFSFTLPYPVKIKVRFSFFLQIYLIMIFLGLYINFRHLYKQRRRRYGQKKKKIH

• Structural information:
  • Protein Domains: (5..9-)
    (/note="CS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00547"-)
  • Interpro: IPR007052  IPR008978  IPR007482  
  • Prosite: PS51203
  • STRING: ENSP00000261875
• Other Databases: GeneCards:  HACD3  Malacards:  HACD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0042761	very long-chain fatty acid biosynthetic process	IBA	biological process
GO:0030497	fatty acid elongation	IBA	biological process
GO:0030148	sphingolipid biosynthetic process	IBA	biological process
GO:0018812	3-hydroxyacyl-CoA dehydratase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0042761	very long-chain fatty acid biosynthetic process	IDA	biological process
GO:0018812	3-hydroxyacyl-CoA dehydratase activity	IDA	molecular function
GO:0030497	fatty acid elongation	IDA	biological process
GO:0019899	enzyme binding	IDA	molecular function
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0016829	lyase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005096	GTPase activator activity	TAS	molecular function
GO:0007249	I-kappaB kinase/NF-kappaB signaling	TAS	biological process
GO:0007264	small GTPase mediated signal transduction	TAS	biological process
GO:0007257	activation of JUN kinase activity	TAS	biological process
GO:0102344	3-hydroxy-behenoyl-CoA dehydratase activity	IEA	molecular function
GO:0102345	3-hydroxy-lignoceroyl-CoA dehydratase activity	IEA	molecular function
GO:0102343	3-hydroxy-arachidoyl-CoA dehydratase activity	IEA	molecular function
GO:0102158	very-long-chain 3-hydroxyacyl-CoA dehydratase activity	IEA	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:0005515	protein binding	IPI	molecular function
GO:0046726	positive regulation by virus of viral protein levels in host cell	IMP	biological process
GO:0045070	positive regulation of viral genome replication	IMP	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:0007254	JNK cascade	IEA	biological process
GO:0007266	Rho protein signal transduction	IEA	biological process
GO:0007249	I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0005925	focal adhesion	HDA	cellular component
GO:0016601	Rac protein signal transduction	NAS	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
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray