HSD11B1 (hydroxysteroid 11-beta dehydrogenase 1)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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3290 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Hydroxysteroid 11-beta dehydrogenase 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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HSD11B1 |
SynonymsGene synonyms aliases
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11-DH, 11-beta-HSD1, CORTRD2, HDL, HSD11, HSD11B, HSD11L, SDR26C1 |
ChromosomeChromosome number
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1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1q32.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze the reverse reaction, the conversion of cortisone to c |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0003845 |
Function |
11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity |
IBA |
21873635 |
GO:0005496 |
Function |
Steroid binding |
IBA |
21873635 |
GO:0005789 |
Component |
Endoplasmic reticulum membrane |
TAS |
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GO:0006704 |
Process |
Glucocorticoid biosynthetic process |
TAS |
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GO:0006706 |
Process |
Steroid catabolic process |
IBA |
21873635 |
GO:0016020 |
Component |
Membrane |
HDA |
19946888 |
GO:0030176 |
Component |
Integral component of endoplasmic reticulum membrane |
IDA |
10497248 |
GO:0030324 |
Process |
Lung development |
IEA |
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GO:0042803 |
Function |
Protein homodimerization activity |
IDA |
15513927, 17919905, 18069989, 18485702, 18553955, 19217779 |
GO:0050661 |
Function |
NADP binding |
IDA |
15513927, 17919905, 18069989, 18485702, 18553955, 19217779 |
GO:0070524 |
Function |
11-beta-hydroxysteroid dehydrogenase (NADP+) activity |
IDA |
10497248, 15152005, 17070044, 17919905 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
P28845 |
Protein name |
11-beta-hydroxysteroid dehydrogenase 1 (11-DH) (11-beta-HSD1) (EC 1.1.1.146) (7-oxosteroid reductase) (EC 1.1.1.201) (Corticosteroid 11-beta-dehydrogenase isozyme 1) (Short chain dehydrogenase/reductase family 26C member 1) |
Protein function |
Controls the reversible conversion of biologically active glucocorticoids such as cortisone to cortisol, and 11-dehydrocorticosterone to corticosterone in the presence of NADP(H) (PubMed:10497248, PubMed:12460758, PubMed:14973125, PubMed:1515200 |
PDB |
1XU7
,
1XU9
,
2BEL
,
2ILT
,
2IRW
,
2RBE
,
3BYZ
,
3BZU
,
3CH6
,
3CZR
,
3D3E
,
3D4N
,
3D5Q
,
3EY4
,
3FCO
,
3FRJ
,
3H6K
,
3HFG
,
3OQ1
,
3PDJ
,
3QQP
,
3TFQ
,
4BB5
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4BB6
,
4C7J
,
4C7K
,
4HFR
,
4HX5
,
4IJU
,
4IJV
,
4IJW
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4K1L
,
4P38
,
4YYZ
,
5PGU
,
5PGV
,
5PGW
,
5PGX
,
5PGY
,
5QII
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00106 |
adh_short |
35 → 230 |
short chain dehydrogenase |
Domain |
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Sequence |
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Sequence length |
292 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Breast cancer |
Malignant neoplasm of breast |
rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243 |
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Cortisone reductase deficiency |
Cortisone reductase deficiency, CORTISONE REDUCTASE DEFICIENCY 2 |
rs606231222, rs398122816, rs387907167, rs398122817, rs398122818, rs387907168, rs756817759 |
25526675, 21325058 |
Dermatitis |
Dermatitis, Allergic Contact |
rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 |
16033404 |
Hyperandrogenism |
Hyperandrogenism due to cortisone reductase deficiency |
rs151344506 |
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Hypertension |
Hypertensive disease |
rs13306026, rs13333226 |
15199296, 9683905, 21786805 |
Obesity |
Obesity |
rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840 |
17628001, 21786805 |
Rheumatoid arthritis |
Rheumatoid Arthritis |
rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212 |
19192274 |
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