ENSG00000150540


Homo sapiens

Features
Gene ID: ENSG00000150540
  
Biological name :HNMT
  
Synonyms : histamine N-methyltransferase / HNMT / P50135
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: q22.1
Gene start: 137964020
Gene end: 138016364
  
Corresponding Affymetrix probe sets: 1554303_at (Human Genome U133 Plus 2.0 Array)   204110_at (Human Genome U133 Plus 2.0 Array)   204111_at (Human Genome U133 Plus 2.0 Array)   204112_s_at (Human Genome U133 Plus 2.0 Array)   211732_x_at (Human Genome U133 Plus 2.0 Array)   228772_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000386940
Ensembl peptide - ENSP00000280096
Ensembl peptide - ENSP00000280097
Ensembl peptide - ENSP00000419415
Ensembl peptide - ENSP00000333259
NCBI entrez gene - 3176     See in Manteia.
OMIM - 605238
RefSeq - XM_017003948
RefSeq - NM_001024074
RefSeq - NM_001024075
RefSeq - NM_006895
RefSeq - XM_011511064
RefSeq Peptide - NP_008826
RefSeq Peptide - NP_001019245
RefSeq Peptide - NP_001019246
swissprot - P50135
Ensembl - ENSG00000150540
  
Related genetic diseases (OMIM): 600807 - {Asthma, susceptibility to}, 600807
  616739 - Mental retardation, autosomal recessive 51, 616739
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
 hnmtENSDARG00000012796Danio rerio
 HNMTENSGALG00000012377Gallus gallus
 HnmtENSMUSG00000026986Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR016673  Histamine N-methyltransferase-like
 IPR029063  S-adenosyl-L-methionine-dependent methyltransferase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001695 histamine catabolic process IDA
 biological_processGO:0006548 histidine catabolic process TAS
 biological_processGO:0007420 brain development IBA
 biological_processGO:0007585 respiratory gaseous exchange TAS
 biological_processGO:0032259 methylation IEA
 biological_processGO:1903955 positive regulation of protein targeting to mitochondrion IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0043005 neuron projection IBA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0008168 methyltransferase activity IEA
 molecular_functionGO:0008170 N-methyltransferase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0046539 histamine N-methyltransferase activity TAS


Pathways (from Reactome)
Pathway description
Metabolism of ingested SeMet, Sec, MeSec into H2Se
Histidine catabolism


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:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000750 Impaired language development 
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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:0003593 Early onset 
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 HP:0010864 Mental retardation, severe "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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