ENSG00000165996


Homo sapiens

Features
Gene ID: ENSG00000165996
  
Biological name :HACD1
  
Synonyms : 3-hydroxyacyl-CoA dehydratase 1 / B0YJ81 / HACD1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: p12.33
Gene start: 17589032
Gene end: 17617377
  
Corresponding Affymetrix probe sets: 1554376_s_at (Human Genome U133 Plus 2.0 Array)   219654_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000355308
Ensembl peptide - ENSP00000462868
Ensembl peptide - ENSP00000462336
Ensembl peptide - ENSP00000322923
NCBI entrez gene - 9200     See in Manteia.
OMIM - 610467
RefSeq - NM_014241
RefSeq - XM_005252641
RefSeq Peptide - NP_055056
swissprot - B0YJ81
swissprot - J3KT94
swissprot - A6NP58
swissprot - J3KS69
Ensembl - ENSG00000165996
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hacd1ENSDARG00000103744Danio rerio
 HACD1ENSGALG00000008659Gallus gallus
 Hacd1ENSMUSG00000063275Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HACD2 / Q6Y1H2 / 3-hydroxyacyl-CoA dehydratase 2ENSG0000020652750
HACD3 / Q9P035 / 3-hydroxyacyl-CoA dehydratase 3ENSG0000007469623
HACD4 / Q5VWC8 / 3-hydroxyacyl-CoA dehydratase 4ENSG0000018892117


Protein motifs (from Interpro)
Interpro ID Name
 IPR007482  Protein-tyrosine phosphatase-like, PTPLA


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006631 fatty acid metabolic process IEA
 biological_processGO:0006633 fatty acid biosynthetic process IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0030148 sphingolipid biosynthetic process IBA
 biological_processGO:0030497 fatty acid elongation IBA
 biological_processGO:0035338 long-chain fatty-acyl-CoA biosynthetic process TAS
 biological_processGO:0042761 very long-chain fatty acid biosynthetic process IBA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030176 integral component of endoplasmic reticulum membrane IBA
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0018812 3-hydroxyacyl-CoA dehydratase activity IBA
 molecular_functionGO:0080023 3R-hydroxyacyl-CoA dehydratase activity EXP
 molecular_functionGO:0102158 very-long-chain 3-hydroxyacyl-CoA dehydratase activity IEA
 molecular_functionGO:0102343 3-hydroxy-arachidoyl-CoA dehydratase activity IEA
 molecular_functionGO:0102344 3-hydroxy-behenoyl-CoA dehydratase activity IEA
 molecular_functionGO:0102345 3-hydroxy-lignoceroyl-CoA dehydratase activity IEA


Pathways (from Reactome)
Pathway description
Synthesis of very long-chain fatty acyl-CoAs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000767 Pectus excavatum "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators]
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001315 Reduced reflexes 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0003198 Myopathy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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