ENSG00000176715


Homo sapiens

Features
Gene ID: ENSG00000176715
  
Biological name :ACSF3
  
Synonyms : ACSF3 / acyl-CoA synthetase family member 3 / Q4G176
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: q24.3
Gene start: 89088375
Gene end: 89155846
  
Corresponding Affymetrix probe sets: 1556552_a_at (Human Genome U133 Plus 2.0 Array)   227464_at (Human Genome U133 Plus 2.0 Array)   235823_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000479130
Ensembl peptide - ENSP00000446281
Ensembl peptide - ENSP00000457301
Ensembl peptide - ENSP00000320646
Ensembl peptide - ENSP00000367596
Ensembl peptide - ENSP00000384627
Ensembl peptide - ENSP00000439201
Ensembl peptide - ENSP00000440734
Ensembl peptide - ENSP00000442683
Ensembl peptide - ENSP00000442781
Ensembl peptide - ENSP00000443428
Ensembl peptide - ENSP00000445397
Ensembl peptide - ENSP00000445870
NCBI entrez gene - 197322     See in Manteia.
OMIM - 614245
RefSeq - XM_017023021
RefSeq - NM_001127214
RefSeq - NM_001243279
RefSeq - NM_001284316
RefSeq - NM_174917
RefSeq - XM_005256293
RefSeq - XM_011522942
RefSeq - XM_011522943
RefSeq - XM_017023018
RefSeq - XM_017023019
RefSeq - XM_017023020
RefSeq Peptide - NP_777577
RefSeq Peptide - NP_001120686
RefSeq Peptide - NP_001230208
RefSeq Peptide - NP_001271245
swissprot - H3BTS0
swissprot - F5H2G6
swissprot - F5H362
swissprot - F5H3B2
swissprot - F5H5A1
swissprot - F5H755
swissprot - H0YGC7
swissprot - H0YGJ0
swissprot - Q4G176
swissprot - F5GX20
swissprot - H0YH37
Ensembl - ENSG00000176715
  
Related genetic diseases (OMIM): 614265 - Combined malonic and methylmalonic aciduria, 614265
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
 ACSF3ENSDARG00000059503Danio rerio
 ACSF3ENSGALG00000035225Gallus gallus
 Acsf3ENSMUSG00000015016Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ACSF2 / Q96CM8 / acyl-CoA synthetase family member 2ENSG0000016710720


Protein motifs (from Interpro)
Interpro ID Name
 IPR000873  AMP-dependent synthetase/ligase
 IPR020845  AMP-binding, conserved site
 IPR025110  AMP-binding enzyme, C-terminal domain


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 IDA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0035338 long-chain fatty-acyl-CoA biosynthetic process TAS
 biological_processGO:0090410 malonate catabolic process IDA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016874 ligase activity IEA
 molecular_functionGO:0016878 acid-thiol ligase activity IDA
 molecular_functionGO:0031957 very long-chain fatty acid-CoA ligase activity TAS
 molecular_functionGO:0090409 malonyl-CoA synthetase activity IDA


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


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:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0001944 Dehydration 
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 HP:0001993 Ketoacidosis 
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 HP:0002013 Vomiting 
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 HP:0002014 Diarrhea 
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 HP:0011169 Generalized clonic seizures "Seizures with regularly repetitive myoclonus, involving the same muscle groups, at a frequency of about 2-3 c/sec." [HPO:jalbers]
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 HP:0012120 Methylmalonic aciduria "Increased concentration of `methylmalonic acid` (CHEBI:30860) in the urine." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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