ENSG00000100292


Homo sapiens

Features
Gene ID: ENSG00000100292
  
Biological name :HMOX1
  
Synonyms : heme oxygenase 1 / HMOX1 / P09601
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: 1
Band: q12.3
Gene start: 35380361
Gene end: 35394214
  
Corresponding Affymetrix probe sets: 203665_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000216117
Ensembl peptide - ENSP00000413316
NCBI entrez gene - 3162     See in Manteia.
OMIM - 141250
RefSeq - NM_002133
RefSeq Peptide - NP_002124
swissprot - B1AHA8
swissprot - P09601
swissprot - Q6FH11
Ensembl - ENSG00000100292
  
Related genetic diseases (OMIM): 606963 - {Pulmonary disease, chronic obstructive, susceptibility to}, 606963
  614034 - Heme oxygenase-1 deficiency, 614034
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
 hmox1aENSDARG00000027529Danio rerio
 HMOX1ENSGALG00000012550Gallus gallus
 Hmox1ENSMUSG00000005413Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HMOX2 / P30519 / heme oxygenase 2ENSG0000010341545


Protein motifs (from Interpro)
Interpro ID Name
 IPR002051  Haem oxygenase
 IPR016053  Haem oxygenase-like
 IPR016084  Haem oxygenase-like, multi-helical
 IPR018207  Haem oxygenase conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis IEA
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0001935 endothelial cell proliferation TAS
 biological_processGO:0002246 wound healing involved in inflammatory response IMP
 biological_processGO:0002686 negative regulation of leukocyte migration TAS
 biological_processGO:0006788 heme oxidation IDA
 biological_processGO:0006879 cellular iron ion homeostasis IMP
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0006979 response to oxidative stress IEA
 biological_processGO:0007264 small GTPase mediated signal transduction IEA
 biological_processGO:0007588 excretion IC
 biological_processGO:0008217 regulation of blood pressure IEA
 biological_processGO:0008219 cell death IEA
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage IEA
 biological_processGO:0010656 negative regulation of muscle cell apoptotic process IEA
 biological_processGO:0014806 smooth muscle hyperplasia TAS
 biological_processGO:0016239 positive regulation of macroautophagy IEA
 biological_processGO:0016242 negative regulation of macroautophagy IEA
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0031670 cellular response to nutrient IEA
 biological_processGO:0032764 negative regulation of mast cell cytokine production IEA
 biological_processGO:0034101 erythrocyte homeostasis IMP
 biological_processGO:0034383 low-density lipoprotein particle clearance TAS
 biological_processGO:0034395 regulation of transcription from RNA polymerase II promoter in response to iron IEA
 biological_processGO:0034605 cellular response to heat IMP
 biological_processGO:0035094 response to nicotine IDA
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0042167 heme catabolic process TAS
 biological_processGO:0042168 heme metabolic process IEA
 biological_processGO:0042542 response to hydrogen peroxide IEA
 biological_processGO:0043065 positive regulation of apoptotic process IEA
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling HMP
 biological_processGO:0043305 negative regulation of mast cell degranulation IEA
 biological_processGO:0043392 negative regulation of DNA binding IEA
 biological_processGO:0043433 negative regulation of DNA-binding transcription factor activity IEA
 biological_processGO:0043524 negative regulation of neuron apoptotic process IEA
 biological_processGO:0043619 regulation of transcription from RNA polymerase II promoter in response to oxidative stress IEA
 biological_processGO:0043627 response to estrogen IEA
 biological_processGO:0045080 positive regulation of chemokine biosynthetic process TAS
 biological_processGO:0045765 regulation of angiogenesis TAS
 biological_processGO:0045766 positive regulation of angiogenesis IEA
 biological_processGO:0048661 positive regulation of smooth muscle cell proliferation IDA
 biological_processGO:0048662 negative regulation of smooth muscle cell proliferation IEA
 biological_processGO:0051090 regulation of DNA-binding transcription factor activity IEA
 biological_processGO:0051260 protein homooligomerization IDA
 biological_processGO:0055072 iron ion homeostasis IMP
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0071243 cellular response to arsenic-containing substance IEA
 biological_processGO:0071276 cellular response to cadmium ion IEA
 biological_processGO:0071456 cellular response to hypoxia IEP
 biological_processGO:0072719 cellular response to cisplatin IEA
 biological_processGO:0090050 positive regulation of cell migration involved in sprouting angiogenesis IGI
 biological_processGO:0097421 liver regeneration IEA
 biological_processGO:0097755 positive regulation of blood vessel diameter IC
 biological_processGO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IMP
 biological_processGO:1903589 positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis IGI
 biological_processGO:1904036 negative regulation of epithelial cell apoptotic process IEA
 biological_processGO:1904706 negative regulation of vascular smooth muscle cell proliferation IEA
 cellular_componentGO:0005615 extracellular space TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005783 endoplasmic reticulum TAS
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005901 caveola IEA
 cellular_componentGO:0016020 membrane TAS
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 molecular_functionGO:0004392 heme oxygenase (decyclizing) activity TAS
 molecular_functionGO:0004630 phospholipase D activity IEA
 molecular_functionGO:0004871 obsolete signal transducer activity HMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0019899 enzyme binding IEA
 molecular_functionGO:0020037 heme binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Heme degradation
Interleukin-4 and Interleukin-13 signaling
Iron uptake and transport


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:0000093 Proteinuria 
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 HP:0000790 Hematuria "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators]
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 HP:0001510 Growth retardation 
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 HP:0001878 Hemolytic anemia 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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