ENSG00000117594


Homo sapiens

Features
Gene ID: ENSG00000117594
  
Biological name :HSD11B1
  
Synonyms : HSD11B1 / hydroxysteroid 11-beta dehydrogenase 1 / P28845
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q32.2
Gene start: 209686178
Gene end: 209734950
  
Corresponding Affymetrix probe sets: 205404_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000355995
Ensembl peptide - ENSP00000478430
Ensembl peptide - ENSP00000261465
Ensembl peptide - ENSP00000355994
NCBI entrez gene - 3290     See in Manteia.
OMIM - 600713
RefSeq - NM_001206741
RefSeq - NM_005525
RefSeq - NM_181755
RefSeq Peptide - NP_005516
RefSeq Peptide - NP_001193670
RefSeq Peptide - NP_861420
swissprot - P28845
swissprot - A0A087WU76
swissprot - X5D2L1
swissprot - A0A0A0MQV1
Ensembl - ENSG00000117594
  
Related genetic diseases (OMIM): 614662 - Cortisone reductase deficiency 2, 614662
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
 ENSGALG00000001369Gallus gallus
 ENSGALG00000028858Gallus gallus
 P50172ENSMUSG00000016194Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q7Z5J1 / HSD11B1L / hydroxysteroid 11-beta dehydrogenase 1 likeENSG0000016773341


Protein motifs (from Interpro)
Interpro ID Name
 IPR002347  Short-chain dehydrogenase/reductase SDR
 IPR020904  Short-chain dehydrogenase/reductase, conserved site
 IPR036291  NAD(P)-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006704 glucocorticoid biosynthetic process TAS
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0030324 lung development IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0003845 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity TAS
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0070524 11-beta-hydroxysteroid dehydrogenase (NADP+) activity IEA


Pathways (from Reactome)
Pathway description
Glucocorticoid biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000855 Insulin resistance 
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 HP:0000956 Acanthosis nigricans 
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 HP:0001513 Obesity "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765]
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 HP:0005616 Accelerated skeletal maturation "An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators]
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 HP:0012411 Premature pubarche "The onset of growth of pubic hair at an earlier age than normal." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000117594 P28845 / HSD11B1 / hydroxysteroid 11-beta dehydrogenase 1  / complex






 

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