ENSG00000174990


Homo sapiens

Features
Gene ID: ENSG00000174990
  
Biological name :CA5A
  
Synonyms : CA5A / carbonic anhydrase 5A / P35218
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: q24.2
Gene start: 87881546
Gene end: 87936529
  
Corresponding Affymetrix probe sets: 207421_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000309649
NCBI entrez gene - 763     See in Manteia.
OMIM - 114761
RefSeq - XM_017023646
RefSeq - NM_001739
RefSeq - XM_011523309
RefSeq - XM_011523310
RefSeq Peptide - NP_001730
swissprot - P35218
Ensembl - ENSG00000174990
  
Related genetic diseases (OMIM): 615751 - Hyperammonemia due to carbonic anhydrase VA deficiency, 615751
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
 ca5aENSDARG00000101778Danio rerio
 ENSGALG00000005855Gallus gallus
 Car5aENSMUSG00000025317Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CA5B / Q9Y2D0 / carbonic anhydrase 5BENSG0000016923959
CA2 / P00918 / carbonic anhydrase 2ENSG0000010426744
CA7 / P43166 / carbonic anhydrase 7ENSG0000016874843
CA1 / P00915 / carbonic anhydrase 1ENSG0000013374242
CA13 / Q8N1Q1 / carbonic anhydrase 13ENSG0000018501540
CA3 / P07451 / carbonic anhydrase 3ENSG0000016487939
CA8 / P35219 / carbonic anhydrase 8ENSG0000017853833
CA14 / Q9ULX7 / carbonic anhydrase 14ENSG0000011829829
CA6 / P23280 / carbonic anhydrase 6ENSG0000013168629
CA4 / P22748 / carbonic anhydrase 4ENSG0000016743428
CA12 / O43570 / carbonic anhydrase 12ENSG0000007441028
CA9 / Q16790 / carbonic anhydrase 9ENSG0000010715927


Protein motifs (from Interpro)
Interpro ID Name
 IPR001148  Alpha carbonic anhydrase domain
 IPR018338  Carbonic anhydrase, alpha-class, conserved site
 IPR023561  Carbonic anhydrase, alpha-class
 IPR036398  Alpha carbonic anhydrase domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006730 one-carbon metabolic process IEA
 biological_processGO:0015701 bicarbonate transport TAS
 cellular_componentGO:0005739 mitochondrion TAS
 cellular_componentGO:0005759 mitochondrial matrix NAS
 molecular_functionGO:0004089 carbonate dehydratase activity TAS
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Reversible hydration of carbon dioxide


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:0001254 Lethargy 
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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:0001942 Metabolic acidosis 
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 HP:0001943 Hypoglycemia "A lower than normal level of blood glucose." [HPO:curators]
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 HP:0001950 Respiratory alkalosis 
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 HP:0001987 Hyperammonemia 
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 HP:0001993 Ketoacidosis 
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 HP:0002151 Increased serum lactate "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators]
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 HP:0002789 Tachypnea 
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 HP:0002919 Ketonuria 
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 HP:0003128 Lactic acidemia "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood." [HPO:probinson]
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 HP:0003348 Hyperalaninemia 
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 HP:0003828 Variable expressivity 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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