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Protein

Corticosteroid 11-beta-dehydrogenase isozyme 1

Gene

HSD11B1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes reversibly the conversion of cortisol to the inactive metabolite cortisone. Catalyzes reversibly the conversion of 7-ketocholesterol to 7-beta-hydroxycholesterol. In intact cells, the reaction runs only in one direction, from 7-ketocholesterol to 7-beta-hydroxycholesterol (By similarity).By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei170Substrate1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei183Proton acceptor1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi41 – 67NADP6 PublicationsAdd BLAST27
Nucleotide bindingi92 – 93NADP6 Publications2
Nucleotide bindingi119 – 121NADP6 Publications3
Nucleotide bindingi183 – 187NADP6 Publications5
Nucleotide bindingi218 – 222NADP6 Publications5

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionOxidoreductase
Biological processLipid metabolism, Steroid metabolism
LigandNADP

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS04154-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.1.1.146 2681
1.1.1.B40 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-194002 Glucocorticoid biosynthesis

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P28845

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000809

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Corticosteroid 11-beta-dehydrogenase isozyme 1 (EC:1.1.1.146)
Alternative name(s):
11-beta-hydroxysteroid dehydrogenase 1
Short name:
11-DH
Short name:
11-beta-HSD1
Short chain dehydrogenase/reductase family 26C member 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HSD11B1
Synonyms:HSD11, HSD11L, SDR26C1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000117594.9

Human Gene Nomenclature Database

More...
HGNCi
HGNC:5208 HSD11B1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600713 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P28845

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 7CytoplasmicSequence analysis7
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei8 – 24Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST17
Topological domaini25 – 292LumenalSequence analysisAdd BLAST268

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cortisone reductase deficiency 2 (CORTRD2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant error of cortisone metabolism characterized by a failure to regenerate cortisol from cortisone, resulting in increased cortisol clearance, activation of the hypothalamic- pituitary axis and ACTH-mediated adrenal androgen excess. Clinical features include hyperandrogenism resulting in hirsutism, oligo- amenorrhea, and infertility in females and premature pseudopuberty in males.
See also OMIM:614662

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi5 – 6KK → RR: Predominantly inverted topology. No effect on activity. 2 Publications2
Mutagenesisi5 – 6KK → SS: Inverted topology. Reduced Vmax. 2 Publications2
Mutagenesisi5K → R: Predominantly inverted topology. No effect on activity. 1 Publication1
Mutagenesisi5K → S: Inverted topology. No effect on activity. 1 Publication1
Mutagenesisi6K → R: No effect on topology. Increased Km for corticosterone. 1 Publication1
Mutagenesisi6K → S: No effect on topology or activity. 1 Publication1
Mutagenesisi18 – 21YYYY → AAAA: No effect on topology. Reduced Vmax. 1 Publication4
Mutagenesisi18 – 21YYYY → FFFF: No effect on topology or activity. 1 Publication4
Mutagenesisi19 – 21YYY → AYA: No effect on topology. Reduced Vmax. 1 Publication3
Mutagenesisi25 – 26EE → KK: Inverted topology. Reduced Vmax. 1 Publication2
Mutagenesisi25 – 26EE → KQ: No effect on topology. Reduced Vmax. 1 Publication2
Mutagenesisi25 – 26EE → QQ: Reduced Vmax. 1 Publication2
Mutagenesisi25E → K or Q: No effect on activity. 1 Publication1
Mutagenesisi26E → K: No effect on activity. 1 Publication1
Mutagenesisi35 – 36KK → SS: Complete loss of activity. 1 Publication2

Organism-specific databases

DisGeNET

More...
DisGeNETi
3290

MalaCards human disease database

More...
MalaCardsi
HSD11B1
MIMi614662 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000117594

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
168588 Hyperandrogenism due to cortisone reductase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29476

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4235

Drug and drug target database

More...
DrugBanki
DB07049 (2R)-1-[(4-tert-butylphenyl)sulfonyl]-2-methyl-4-(4-nitrophenyl)piperazine
DB03461 2'-Monophosphoadenosine 5'-Diphosphoribose
DB03814 2-(N-Morpholino)-Ethanesulfonic Acid
DB02329 Carbenoxolone
DB05064 INCB13739
DB00157 NADH
DB00635 Prednisone

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
2763

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HSD11B1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
118569

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000546191 – 292Corticosteroid 11-beta-dehydrogenase isozyme 1Add BLAST292

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi123N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi162N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi207N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Glycosylated.2 Publications

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P28845

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P28845

PeptideAtlas

More...
PeptideAtlasi
P28845

PRoteomics IDEntifications database

More...
PRIDEi
P28845

ProteomicsDB human proteome resource

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ProteomicsDBi
54504

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1158

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P28845

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P28845

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed. Highest expression in liver.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000117594 Expressed in 187 organ(s), highest expression level in decidua

CleanEx database of gene expression profiles

More...
CleanExi
HS_HSD11B1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P28845 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P28845 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA047729

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.6 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
109523, 16 interactors

Database of interacting proteins

More...
DIPi
DIP-59618N

Protein interaction database and analysis system

More...
IntActi
P28845, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000261465

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P28845

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1292
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P28845

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P28845

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P28845

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1205 Eukaryota
COG1028 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160097

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000010276

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005481

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P28845

KEGG Orthology (KO)

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KOi
K15680

Identification of Orthologs from Complete Genome Data

More...
OMAi
IFLAYYY

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0H0R

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P28845

TreeFam database of animal gene trees

More...
TreeFami
TF329114

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR036291 NAD(P)-bd_dom_sf
IPR020904 Sc_DH/Rdtase_CS
IPR002347 SDR_fam

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00106 adh_short, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00081 GDHRDH

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF51735 SSF51735, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00061 ADH_SHORT, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P28845-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAFMKKYLLP ILGLFMAYYY YSANEEFRPE MLQGKKVIVT GASKGIGREM
60 70 80 90 100
AYHLAKMGAH VVVTARSKET LQKVVSHCLE LGAASAHYIA GTMEDMTFAE
110 120 130 140 150
QFVAQAGKLM GGLDMLILNH ITNTSLNLFH DDIHHVRKSM EVNFLSYVVL
160 170 180 190 200
TVAALPMLKQ SNGSIVVVSS LAGKVAYPMV AAYSASKFAL DGFFSSIRKE
210 220 230 240 250
YSVSRVNVSI TLCVLGLIDT ETAMKAVSGI VHMQAAPKEE CALEIIKGGA
260 270 280 290
LRQEEVYYDS SLWTTLLIRN PCRKILEFLY STSYNMDRFI NK
Length:292
Mass (Da):32,401
Last modified:January 23, 2007 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4632D0F3BBEFC474
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MQV1A0A0A0MQV1_HUMAN
Corticosteroid 11-beta-dehydrogenas...
HSD11B1
278Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WU76A0A087WU76_HUMAN
Corticosteroid 11-beta-dehydrogenas...
HSD11B1
182Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_035845148V → E in a breast cancer sample; somatic mutation. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M76665
, M76661, M76662, M76663, M76664 Genomic DNA Translation: AAC31757.1
AY044084, AY044083 Genomic DNA Translation: AAK83653.1
AK313973 mRNA Translation: BAG36688.1
AL022398 Genomic DNA No translation available.
AL031316 Genomic DNA No translation available.
CH471100 Genomic DNA Translation: EAW93445.1
CH471100 Genomic DNA Translation: EAW93446.1
BC012593 mRNA Translation: AAH12593.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1489.1

Protein sequence database of the Protein Information Resource

More...
PIRi
A41173 DXHUBH

NCBI Reference Sequences

More...
RefSeqi
NP_001193670.1, NM_001206741.1
NP_005516.1, NM_005525.3
NP_861420.1, NM_181755.2

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.195040

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000367027; ENSP00000355994; ENSG00000117594
ENST00000367028; ENSP00000355995; ENSG00000117594

Database of genes from NCBI RefSeq genomes

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GeneIDi
3290

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:3290

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M76665
, M76661, M76662, M76663, M76664 Genomic DNA Translation: AAC31757.1
AY044084, AY044083 Genomic DNA Translation: AAK83653.1
AK313973 mRNA Translation: BAG36688.1
AL022398 Genomic DNA No translation available.
AL031316 Genomic DNA No translation available.
CH471100 Genomic DNA Translation: EAW93445.1
CH471100 Genomic DNA Translation: EAW93446.1
BC012593 mRNA Translation: AAH12593.1
CCDSiCCDS1489.1
PIRiA41173 DXHUBH
RefSeqiNP_001193670.1, NM_001206741.1
NP_005516.1, NM_005525.3
NP_861420.1, NM_181755.2
UniGeneiHs.195040

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1XU7X-ray1.80A/B/C/D24-292[»]
1XU9X-ray1.55A/B/C/D24-292[»]
2BELX-ray2.11A/B/C/D26-284[»]
2ILTX-ray2.30A24-285[»]
2IRWX-ray3.10A/B/C/D/E/F/G/H26-289[»]
2RBEX-ray1.90A/B/C/D25-292[»]
3BYZX-ray2.69A/B/C/D25-292[»]
3BZUX-ray2.25A/B/C/D24-292[»]
3CH6X-ray2.35A/B/D/E24-292[»]
3CZRX-ray2.35A/B24-292[»]
3D3EX-ray2.60A/B/C/D24-292[»]
3D4NX-ray2.50A/B/C/D24-292[»]
3D5QX-ray2.55A/B/C/D24-292[»]
3EY4X-ray3.00A/B/C/D25-292[»]
3FCOX-ray2.65A/B24-291[»]
3FRJX-ray2.30A/B24-292[»]
3H6KX-ray2.19A/B/C/D24-292[»]
3HFGX-ray2.30A/B/C/D24-292[»]
3OQ1X-ray2.60A/B/C/D24-292[»]
3PDJX-ray2.30A/B24-292[»]
3QQPX-ray2.72A/B/C/D24-292[»]
3TFQX-ray1.80A/B/D/E24-292[»]
4BB5X-ray2.20A/B/C/D1-292[»]
4BB6X-ray2.55A/B1-292[»]
4C7JX-ray2.16A/B/C/D24-292[»]
4C7KX-ray1.91A/B/C/D24-292[»]
4HFRX-ray2.73A/B24-292[»]
4HX5X-ray2.19A/B/C/D24-292[»]
4IJUX-ray2.35A/B/D/E24-292[»]
4IJVX-ray2.35A/B/D/E24-292[»]
4IJWX-ray2.35A/B/D/E24-292[»]
4K1LX-ray1.96A/B/C/D24-292[»]
4P38X-ray2.80A/B26-290[»]
4YYZX-ray3.20A/B26-284[»]
5PGUX-ray2.35A/B/D/E24-292[»]
5PGVX-ray2.35A/B/D/E24-292[»]
5PGWX-ray2.37A/B/D/E24-292[»]
5PGXX-ray2.50A/B/D/E24-292[»]
5PGYX-ray2.07A/B/D/E24-292[»]
ProteinModelPortaliP28845
SMRiP28845
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109523, 16 interactors
DIPiDIP-59618N
IntActiP28845, 1 interactor
STRINGi9606.ENSP00000261465

Chemistry databases

BindingDBiP28845
ChEMBLiCHEMBL4235
DrugBankiDB07049 (2R)-1-[(4-tert-butylphenyl)sulfonyl]-2-methyl-4-(4-nitrophenyl)piperazine
DB03461 2'-Monophosphoadenosine 5'-Diphosphoribose
DB03814 2-(N-Morpholino)-Ethanesulfonic Acid
DB02329 Carbenoxolone
DB05064 INCB13739
DB00157 NADH
DB00635 Prednisone
GuidetoPHARMACOLOGYi2763
SwissLipidsiSLP:000000809

PTM databases

GlyConnecti1158
iPTMnetiP28845
PhosphoSitePlusiP28845

Polymorphism and mutation databases

BioMutaiHSD11B1
DMDMi118569

Proteomic databases

EPDiP28845
PaxDbiP28845
PeptideAtlasiP28845
PRIDEiP28845
ProteomicsDBi54504

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
3290
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367027; ENSP00000355994; ENSG00000117594
ENST00000367028; ENSP00000355995; ENSG00000117594
GeneIDi3290
KEGGihsa:3290

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3290
DisGeNETi3290
EuPathDBiHostDB:ENSG00000117594.9

GeneCards: human genes, protein and diseases

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GeneCardsi
HSD11B1
HGNCiHGNC:5208 HSD11B1
HPAiHPA047729
MalaCardsiHSD11B1
MIMi600713 gene
614662 phenotype
neXtProtiNX_P28845
OpenTargetsiENSG00000117594
Orphaneti168588 Hyperandrogenism due to cortisone reductase deficiency
PharmGKBiPA29476

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1205 Eukaryota
COG1028 LUCA
GeneTreeiENSGT00940000160097
HOGENOMiHOG000010276
HOVERGENiHBG005481
InParanoidiP28845
KOiK15680
OMAiIFLAYYY
OrthoDBiEOG091G0H0R
PhylomeDBiP28845
TreeFamiTF329114

Enzyme and pathway databases

BioCyciMetaCyc:HS04154-MONOMER
BRENDAi1.1.1.146 2681
1.1.1.B40 2681
ReactomeiR-HSA-194002 Glucocorticoid biosynthesis
SABIO-RKiP28845

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
HSD11B1 human
EvolutionaryTraceiP28845

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
11%CE%B2-hydroxysteroid_dehydrogenase_type_1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
3290

Protein Ontology

More...
PROi
PR:P28845

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000117594 Expressed in 187 organ(s), highest expression level in decidua
CleanExiHS_HSD11B1
ExpressionAtlasiP28845 baseline and differential
GenevisibleiP28845 HS

Family and domain databases

InterProiView protein in InterPro
IPR036291 NAD(P)-bd_dom_sf
IPR020904 Sc_DH/Rdtase_CS
IPR002347 SDR_fam
PfamiView protein in Pfam
PF00106 adh_short, 1 hit
PRINTSiPR00081 GDHRDH
SUPFAMiSSF51735 SSF51735, 1 hit
PROSITEiView protein in PROSITE
PS00061 ADH_SHORT, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDHI1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P28845
Secondary accession number(s): B2R9Z1, D3DT89
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: January 23, 2007
Last modified: December 5, 2018
This is version 194 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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