ENSG00000285043


Homo sapiens

Features
Gene ID: ENSG00000285043
  
Biological name :ALDOA
  
Synonyms : ALDOA / aldolase, fructose-bisphosphate A / P04075
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: p11.2
Gene start: 30053090
Gene end: 30070420
  
Corresponding Affymetrix probe sets: 200966_x_at (Human Genome U133 Plus 2.0 Array)   214687_x_at (Human Genome U133 Plus 2.0 Array)   238996_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000485952
Ensembl peptide - ENSP00000494290
Ensembl peptide - ENSP00000494734
Ensembl peptide - ENSP00000336927
Ensembl peptide - ENSP00000378669
Ensembl peptide - ENSP00000455724
Ensembl peptide - ENSP00000457683
NCBI entrez gene - 226     See in Manteia.
OMIM - 103850
RefSeq - NM_001355562
RefSeq Peptide - NP_001342491
swissprot - A0A1B0GW02
swissprot - H3BUK5
swissprot - J3KPS3
swissprot - P04075
Ensembl - ENSG00000285043
  
Related genetic diseases (OMIM): 611881 - Glycogen storage disease XII, 611881
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
 aldoaaENSDARG00000011665Danio rerio
 aldoabENSDARG00000034470Danio rerio
 AldoaENSMUSG00000030695Mus musculus
 Aldoart1ENSMUSG00000059343Mus musculus
 Aldoart2ENSMUSG00000063129Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ALDOA / P04075 / aldolase, fructose-bisphosphate AENSG0000014992599
ALDOC / P09972 / aldolase, fructose-bisphosphate CENSG0000010910781
ALDOB / P05062 / aldolase, fructose-bisphosphate BENSG0000013687269


Protein motifs (from Interpro)
Interpro ID Name
 IPR000741  Fructose-bisphosphate aldolase, class-I
 IPR013785  Aldolase-type TIM barrel
 IPR029768  Fructose-bisphosphate aldolase class-I active site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0006000 fructose metabolic process IMP
 biological_processGO:0006094 gluconeogenesis TAS
 biological_processGO:0006096 glycolytic process IEA
 biological_processGO:0006754 ATP biosynthetic process IMP
 biological_processGO:0006941 striated muscle contraction IMP
 biological_processGO:0007015 actin filament organization TAS
 biological_processGO:0007339 binding of sperm to zona pellucida IMP
 biological_processGO:0008360 regulation of cell shape IDA
 biological_processGO:0030388 fructose 1,6-bisphosphate metabolic process IDA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0046716 muscle cell cellular homeostasis IMP
 biological_processGO:0051289 protein homotetramerization ISS
 biological_processGO:0061621 canonical glycolysis TAS
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005634 nucleus HDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0015629 actin cytoskeleton IDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031093 platelet alpha granule lumen TAS
 cellular_componentGO:0031430 M band IEA
 cellular_componentGO:0031674 I band TAS
 cellular_componentGO:0034774 secretory granule lumen TAS
 cellular_componentGO:0061827 sperm head IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:1904724 tertiary granule lumen TAS
 cellular_componentGO:1904813 ficolin-1-rich granule lumen TAS
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0003779 actin binding TAS
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004332 fructose-bisphosphate aldolase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008092 cytoskeletal protein binding IDA
 molecular_functionGO:0015631 tubulin binding TAS
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0042802 identical protein binding TAS
 molecular_functionGO:0045296 cadherin binding IDA
 molecular_functionGO:0070061 fructose binding IDA


Pathways (from Reactome)
Pathway description
Platelet degranulation
Neutrophil degranulation
Glycolysis
Gluconeogenesis


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:0000286 Epicanthus "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators]
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 HP:0000470 Short neck 
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 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0000823 Delayed puberty 
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 HP:0000952 Jaundice "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators]
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 HP:0001081 Cholelithiasis 
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 HP:0001082 Cholecystitis 
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 HP:0001249 Mental retardation 
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001895 Normochromic anemia 
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 HP:0001897 Normocytic anemia 
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 HP:0001930 Nonspherocytic hemolytic anemia 
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 HP:0002162 Low posterior hairline 
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 HP:0003198 Myopathy 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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