ENSG00000101444


Homo sapiens

Features
Gene ID: ENSG00000101444
  
Biological name :AHCY
  
Synonyms : adenosylhomocysteinase / AHCY / P23526
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: -1
Band: q11.22
Gene start: 34280268
Gene end: 34311802
  
Corresponding Affymetrix probe sets: 200903_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000442820
Ensembl peptide - ENSP00000217426
NCBI entrez gene - 191     See in Manteia.
OMIM - 180960
RefSeq - NM_001322085
RefSeq - NM_001322086
RefSeq - XM_017027710
RefSeq - NM_000687
RefSeq - NM_001161766
RefSeq - NM_001322084
RefSeq - XM_011528656
RefSeq - XM_011528657
RefSeq - XM_011528658
RefSeq - XM_011528659
RefSeq - XM_017027708
RefSeq - XM_017027709
RefSeq - XM_005260317
RefSeq Peptide - NP_001155238
RefSeq Peptide - NP_001309013
RefSeq Peptide - NP_001309014
RefSeq Peptide - NP_001309015
RefSeq Peptide - NP_000678
swissprot - P23526
Ensembl - ENSG00000101444
  
Related genetic diseases (OMIM): 613752 - Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752
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
 ahcyENSDARG00000005191Danio rerio
 AHCYENSGALG00000033677Gallus gallus
 AhcyENSMUSG00000027597Mus musculus
 Gm4737ENSMUSG00000048087Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AHCYL2 / Q96HN2 / adenosylhomocysteinase like 2ENSG0000015846750
AHCYL1 / O43865 / adenosylhomocysteinase like 1ENSG0000016871050


Protein motifs (from Interpro)
Interpro ID Name
 IPR000043  Adenosylhomocysteinase-like
 IPR015878  S-adenosyl-L-homocysteine hydrolase, NAD binding domain
 IPR020082  S-adenosyl-L-homocysteine hydrolase, conserved site
 IPR034373  Adenosylhomocysteinase
 IPR036291  NAD(P)-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000096 sulfur amino acid metabolic process TAS
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0002439 chronic inflammatory response to antigenic stimulus IEA
 biological_processGO:0006730 one-carbon metabolic process IEA
 biological_processGO:0007584 response to nutrient IEA
 biological_processGO:0019510 S-adenosylhomocysteine catabolic process IEA
 biological_processGO:0032259 methylation TAS
 biological_processGO:0033353 S-adenosylmethionine cycle IBA
 biological_processGO:0042745 circadian sleep/wake cycle IEA
 biological_processGO:0071268 homocysteine biosynthetic process IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IBA
 cellular_componentGO:0042470 melanosome IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004013 adenosylhomocysteinase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0030554 adenyl nucleotide binding IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0051287 NAD binding IEA


Pathways (from Reactome)
Pathway description
Methylation
Sulfur amino acid metabolism
Metabolism of ingested SeMet, Sec, MeSec into H2Se
Defective AHCY causes Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD)


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:0000164 Abnormality of the teeth "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators]
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 HP:0001249 Mental retardation 
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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:0001270 Motor retardation 
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 HP:0001508 Failure to thrive 
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 HP:0001638 Cardiomyopathy 
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 HP:0001999 Facial dysmorphism 
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 HP:0003235 Hypermethioninemia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000101444 AHCY / P23526 / adenosylhomocysteinase  / complex






 

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contact: otassy@igbmc.fr