ENSG00000165996


Homo sapiens
activityHACD1processdehydratasefattyacidbiosyntheticmembranelong-chainendoplasmicreticulummetabolicintegralcomponent-hydroxyacyl-coaprotein-tyrosinephosphatase-likeptplalipidmulticellularorganismdevelopmentsphingolipidelongationfatty-acyl-coalyaser-hydroxyacyl-coavery-long-chain-hydroxy-arachidoyl-coa-hydroxy-behenoyl-coa-hydroxy-lignoceroyl-coa

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)
primary metabolic processorganic substance metabolic processcellular metabolic processsmall molecule metabolic processbiosynthetic processanatomical structure developmentnitrogen compound metabolic processprimary metabolic processorganic substance metabolic processcellular metabolic processsmall molecule metabolic processbiosynthetic processanatomical structure developmentnitrogen compound metabolic processprimary metabolic processorganic substance metabolic processcellular metabolic processsmall molecule metabolic processbiosynthetic processanatomical structure developmentnitrogen compound metabolic processprimary metabolic processorganic substance metabolic processcellular metabolic processsmall molecule metabolic processbiosynthetic processanatomical structure developmentnitrogen compound metabolic processprimary metabolic processorganic substance metabolic processcellular metabolic processsmall molecule metabolic processbiosynthetic processanatomical structure developmentnitrogen compound metabolic processprimary metabolic processorganic substance metabolic processcellular metabolic processsmall molecule metabolic processbiosynthetic processanatomical structure developmentnitrogen compound metabolic processprimary metabolic processorganic substance metabolic processcellular metabolic processsmall molecule metabolic processbiosynthetic processanatomical structure developmentnitrogen compound metabolic processprimary metabolic processorganic substance metabolic processcellular metabolic processsmall molecule metabolic processbiosynthetic processanatomical structure developmentnitrogen compound metabolic processprimary metabolic processorganic substance metabolic processcellular metabolic processsmall molecule metabolic processbiosynthetic processanatomical structure developmentnitrogen compound metabolic processprimary metabolic processorganic substance metabolic processcellular metabolic processsmall molecule metabolic processbiosynthetic processanatomical structure developmentnitrogen compound metabolic processprimary metabolic prprimary metabolic processorganic substance meorganic substance metabolic processcellular metabolic pcellular metabolic processsmall molecule metabsmall molecule metabolic processbiosynthetic processbiosynthetic processanatomical structureanatomical structure developmentnitrogen compound menitrogen compound metabolic process
lyase activitylyase activitylyase activitylyase activitylyase activitylyase activitylyase activitylyase activitylyase activitylyase activitylyase activitylyase activity
cellorganellemembranecellorganellemembranecellorganellemembranecellorganellemembranecellorganellemembranecellorganellemembranecellorganellemembranecellorganellemembranecellorganellemembranecellorganellemembranecellcellorganelleorganellemembranemembrane
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)
Abnormality of the musculoskeletal systemAbnormality of musculatureNeurological abnormalityImmunological abnormalityRespiratory abnormalityAbnormality of the musculoskeletal systemAbnormality of musculatureNeurological abnormalityImmunological abnormalityRespiratory abnormalityAbnormality of the musculoskeletal systemAbnormality of musculatureNeurological abnormalityImmunological abnormalityRespiratory abnormalityAbnormality of the musculoskeletal systemAbnormality of musculatureNeurological abnormalityImmunological abnormalityRespiratory abnormalityAbnormality of the musculoskeletal systemAbnormality of musculatureNeurological abnormalityImmunological abnormalityRespiratory abnormalityAbnormality of the musculoskeletal systemAbnormality of musculatureNeurological abnormalityImmunological abnormalityRespiratory abnormalityAbnormality of the musculoskeletal systemAbnormality of musculatureNeurological abnormalityImmunological abnormalityRespiratory abnormalityAbnormality of the musculoskeletal systemAbnormality of musculatureNeurological abnormalityImmunological abnormalityRespiratory abnormalityAbnormality of the musculoskeletal systemAbnormality of musculatureNeurological abnormalityImmunological abnormalityRespiratory abnormalityAbnormality of the musculoskeletal systemAbnormality of musculatureNeurological abnormalityImmunological abnormalityRespiratory abnormalityAbnormality of the musculoskAbnormality of the musculoskeletal systemAbnormality of musculatureAbnormality of musculatureNeurological abnormalityNeurological abnormalityImmunological abnormalityImmunological abnormalityRespiratory abnormalityRespiratory abnormality
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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