ENSG00000278540


Homo sapiens

Features
Gene ID: ENSG00000278540
  
Biological name :ACACA
  
Synonyms : ACACA / acetyl-CoA carboxylase alpha / Q13085
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: q12
Gene start: 37084988
Gene end: 37406818
  
Corresponding Affymetrix probe sets: 212186_at (Human Genome U133 Plus 2.0 Array)   214358_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000480371
Ensembl peptide - ENSP00000479621
Ensembl peptide - ENSP00000481900
Ensembl peptide - ENSP00000484948
Ensembl peptide - ENSP00000483969
Ensembl peptide - ENSP00000483852
Ensembl peptide - ENSP00000483696
Ensembl peptide - ENSP00000483300
Ensembl peptide - ENSP00000482498
Ensembl peptide - ENSP00000482368
Ensembl peptide - ENSP00000482269
Ensembl peptide - ENSP00000482064
Ensembl peptide - ENSP00000477912
Ensembl peptide - ENSP00000478547
NCBI entrez gene - 31     See in Manteia.
OMIM - 200350
RefSeq - XM_017024555
RefSeq - NM_198834
RefSeq - NM_198836
RefSeq - NM_198837
RefSeq - NM_198838
RefSeq - NM_198839
RefSeq - XM_005257267
RefSeq - XM_006721853
RefSeq - XM_011524701
RefSeq - XM_011524703
RefSeq - XM_011524704
RefSeq - XM_017024553
RefSeq - XM_017024554
RefSeq Peptide - NP_942133
RefSeq Peptide - NP_942134
RefSeq Peptide - NP_942135
RefSeq Peptide - NP_942136
RefSeq Peptide - NP_942131
swissprot - A0A087X126
swissprot - A0A087X0W4
swissprot - A0A087WYS8
swissprot - A0A087WYK6
swissprot - A0A087WWN5
swissprot - A0A087WVR6
swissprot - Q59FY4
swissprot - Q13085
swissprot - A0A024R0Y2
swissprot - B2ZZ90
swissprot - A0A0C4DGT1
swissprot - A0A087X2F8
Ensembl - ENSG00000278540
  
Related genetic diseases (OMIM): 613933 - Acetyl-CoA carboxylase deficiency, 613933
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
 acacaENSDARG00000078512Danio rerio
 ACACAENSGALG00000005439Gallus gallus
 AcacaENSMUSG00000020532Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ACACB / O00763 / acetyl-CoA carboxylase betaENSG0000007655573


Protein motifs (from Interpro)
Interpro ID Name
 IPR000089  Biotin/lipoyl attachment
 IPR001882  Biotin-binding site
 IPR005479  Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain
 IPR005481  Biotin carboxylase-like, N-terminal domain
 IPR005482  Biotin carboxylase, C-terminal
 IPR011053  Single hybrid motif
 IPR011054  Rudiment single hybrid motif
 IPR011761  ATP-grasp fold
 IPR011762  Acetyl-coenzyme A carboxyltransferase, N-terminal
 IPR011763  Acetyl-coenzyme A carboxyltransferase, C-terminal
 IPR011764  Biotin carboxylation domain
 IPR013537  Acetyl-CoA carboxylase, central domain
 IPR013815  ATP-grasp fold, subdomain 1
 IPR016185  Pre-ATP-grasp domain superfamily
 IPR029045  ClpP/crotonase-like domain superfamily
 IPR034733  Acetyl-CoA carboxylase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001894 tissue homeostasis IEA
 biological_processGO:0006084 acetyl-CoA metabolic process ISS
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006631 fatty acid metabolic process IEA
 biological_processGO:0006633 fatty acid biosynthetic process ISS
 biological_processGO:0006768 biotin metabolic process TAS
 biological_processGO:0006853 carnitine shuttle TAS
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0031325 positive regulation of cellular metabolic process TAS
 biological_processGO:0045540 regulation of cholesterol biosynthetic process TAS
 biological_processGO:0046949 fatty-acyl-CoA biosynthetic process TAS
 biological_processGO:0051289 protein homotetramerization ISS
 biological_processGO:0055088 lipid homeostasis IEA
 biological_processGO:0071380 cellular response to prostaglandin E stimulus IEA
 biological_processGO:2001295 malonyl-CoA biosynthetic process IEA
 cellular_componentGO:0001650 fibrillar center IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0015629 actin cytoskeleton IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0003989 acetyl-CoA carboxylase activity TAS
 molecular_functionGO:0004075 biotin carboxylase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016874 ligase activity IEA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
ChREBP activates metabolic gene expression
Biotin transport and metabolism
Import of palmitoyl-CoA into the mitochondrial matrix
Activation of gene expression by SREBF (SREBP)
Defective HLCS causes multiple carboxylase deficiency
Fatty acyl-CoA biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001510 Growth retardation 
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 HP:0003198 Myopathy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000159267 HLCS / P50747 / holocarboxylase synthetase  / reaction
 ENSG00000278540 ACACA / Q13085 / acetyl-CoA carboxylase alpha  / -






 

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