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Entry version 163 (16 Oct 2019)
Sequence version 1 (01 Oct 1996)
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Protein

Aldo-keto reductase family 1 member D1

Gene

AKR1D1

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 the stereospecific NADPH-dependent reduction of the C4-C5 double bond of bile acid intermediates and steroid hormones carrying a delta4-3-one structure to yield an A/B cis-ring junction. This cis-configuration is crucial for bile acid biosynthesis and plays important roles in steroid metabolism. Capable of reducing a broad range of delta-4-3-ketosteroids from C18 (such as, 17beta-hydroxyestr-4-en-3-one) to C27 (such as, 7alpha-hydroxycholest-4-en-3-one).5 Publications

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Subject to inhibition by high substrate concentrations. Inhibited by testosterone concentrations above 10 µM (PubMed:18407998). Inhibited by the primary and secondary bile acids chenodeoxycholic acid and ursodeoxycholic acid (PubMed:21255593).2 Publications

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

kcat is 2.7 min(-1) with 17beta-hydroxyestr-4-en-3-one as substrate. kcat is 6.0 min(-1) with androst-4-ene-3,17-dione as substrate. kcat is 8.4 min(-1) with testosterone as substrate. kcat is 6.0 min(-1) with epitestosterone as substrate. kcat is 3.2 min(-1) with 17beta-hydroxyandrosta-1,4-dien-3-one as substrate. kcat is 9.0 min(-1) with aldosterone as substrate. kcat is 1.9 min(-1) with corticosterone as substrate. kcat is 2.7 min(-1) with cortisol as substrate. kcat is 11.2 min(-1) with cortisone as substrate. kcat is 2.0 min(-1) with 7alpha-hydroxycholest-4-en-3-one as substrate. kcat is 0.6 min(-1) with cholest-4-en-3-one as substrate.1 Publication
  1. KM=2.2 µM for corticosterone1 Publication
  2. KM=2.9 µM for epitestosterone1 Publication
  3. KM=3.0 µM for 17beta-hydroxyestr-4-en-3-one1 Publication
  4. KM=0.8 µM for 7alpha-hydroxycholest-4-en-3-one1 Publication
  5. KM=0.3 µM for cholest-4-en-3-one1 Publication
  6. KM=3.2 µM for 17beta-hydroxyandrosta-1,4-dien-3-one1 Publication
  7. KM=0.9 µM for androst-4-ene-3,17-dione1 Publication
  8. KM=15.1 µM for cortisone2 Publications
  9. KM=13.1 µM for cortisol1 Publication
  10. KM=2.5 µM for aldosterone1 Publication
  11. KM=2.7 µM for testosterone2 Publications

    pH dependencei

    Optimum pH is 6.1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 sitei26Substrate1
    Binding sitei53NADP5 Publications1
    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 sitei58Proton donor1 Publication1
    Binding sitei58Substrate1
    Binding sitei89Substrate1
    Binding sitei120Substrate1
    Binding sitei132Substrate1
    Binding sitei193NADP5 Publications1
    Binding sitei230Substrate1

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 bindingi22 – 26NADP5 Publications5
    Nucleotide bindingi169 – 170NADP5 Publications2
    Nucleotide bindingi219 – 224NADP5 Publications6
    Nucleotide bindingi273 – 283NADP5 PublicationsAdd BLAST11

    <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 processBile acid catabolism, Lipid degradation, Lipid metabolism, Steroid metabolism
    LigandNADP

    Enzyme and pathway databases

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    1.3.1.3 2681

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
    R-HSA-193775 Synthesis of bile acids and bile salts via 24-hydroxycholesterol
    R-HSA-193807 Synthesis of bile acids and bile salts via 27-hydroxycholesterol

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...
    SABIO-RKi
    P51857

    Chemistry databases

    SwissLipids knowledge resource for lipid biology

    More...
    SwissLipidsi
    SLP:000001272 [P51857-1]

    <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:
    Aldo-keto reductase family 1 member D1 (EC:1.3.1.35 Publications)
    Alternative name(s):
    3-oxo-5-beta-steroid 4-dehydrogenase
    Delta(4)-3-ketosteroid 5-beta-reductase
    Delta(4)-3-oxosteroid 5-beta-reductase
    <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:AKR1D1
    Synonyms:SRD5B1
    <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 7

    Organism-specific databases

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:388 AKR1D1

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    604741 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_P51857

    <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 & Seán O’Donoghue; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Cytoplasm

    <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

    Congenital bile acid synthesis defect 2 (CBAS2)4 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA condition characterized by jaundice, intrahepatic cholestasis and hepatic failure. Patients with this liver disease show absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine.
    Related information in OMIM
    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_08175550 – 326Missing in CBAS2. 1 PublicationAdd BLAST277
    Natural variantiVAR_033007106L → F in CBAS2; decreases protein level; accumulates in inclusion bodies; acks of 5-beta-reductase activity. 2 PublicationsCorresponds to variant dbSNP:rs121918343EnsemblClinVar.1
    Natural variantiVAR_044430133P → R in CBAS2; highly reduced KM and Vmax with cortisone as substrate. Increases KM and decreases kcat with testosterone as substrate. No change in NADPH affinity. More thermolabile in the absence of NADPH. Reduces 5-beta-reductase activity. 2 PublicationsCorresponds to variant dbSNP:rs267606649EnsemblClinVar.1
    Natural variantiVAR_033008198P → L in CBAS2; decreases protein level; accumulates in inclusion bodies; decreases 5-beta-reductase activity. 2 PublicationsCorresponds to variant dbSNP:rs121918342EnsemblClinVar.1
    Natural variantiVAR_081756223G → E in CBAS2; decreases protein level; accumulates in inclusion bodies; decreases 5-beta-reductase activity. 2 PublicationsCorresponds to variant dbSNP:rs1228918719Ensembl.1
    Natural variantiVAR_044431261R → C in CBAS2; decreases protein level; accumulates in inclusion bodies; lacks of 5-beta-reductase activity. 2 PublicationsCorresponds to variant dbSNP:rs267606650EnsemblClinVar.1

    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>Mutagenesisi58Y → A: Loss of activity. 1 Publication1
    Mutagenesisi120E → A: Loss of activity. 1 Publication1

    Keywords - Diseasei

    Disease mutation, Intrahepatic cholestasis

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    6718

    MalaCards human disease database

    More...
    MalaCardsi
    AKR1D1
    MIMi235555 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000122787

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

    More...
    Orphaneti
    79303 Congenital bile acid synthesis defect type 2

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA24681

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    P51857

    Chemistry databases

    Drug and drug target database

    More...
    DrugBanki
    DB07557 (5BETA)-PREGNANE-3,20-DIONE
    DB07447 5beta-dihydrotestosterone
    DB00548 Azelaic acid
    DB01216 Finasteride

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    AKR1D1

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    1703007

    <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_00001246691 – 326Aldo-keto reductase family 1 member D1Add BLAST326

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    P51857

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    P51857

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    P51857

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    P51857

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

    More...
    PaxDbi
    P51857

    PeptideAtlas

    More...
    PeptideAtlasi
    P51857

    PRoteomics IDEntifications database

    More...
    PRIDEi
    P51857

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    56436 [P51857-1]
    56437 [P51857-2]
    56438 [P51857-3]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    P51857

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

    More...
    PhosphoSitePlusi
    P51857

    <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

    Highly expressed in liver. Expressed in testis and weakly in colon.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000122787 Expressed in 51 organ(s), highest expression level in liver

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    P51857 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    P51857 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA057002

    <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

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    112596, 8 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    P51857, 7 interactors

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000242375

    <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

    1326
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

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

    More...
    SMRi
    P51857

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    Protein Data Bank in Europe - Knowledge Base

    More...
    PDBe-KBi
    Search...

    Miscellaneous databases

    Relative evolutionary importance of amino acids within a protein sequence

    More...
    EvolutionaryTracei
    P51857

    <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

    Belongs to the aldo/keto reductase family.Curated

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG1577 Eukaryota
    COG0656 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000155961

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000250272

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    P51857

    KEGG Orthology (KO)

    More...
    KOi
    K00251

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    RNPSWVN

    Database of Orthologous Groups

    More...
    OrthoDBi
    1016440at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    P51857

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF106492

    Family and domain databases

    Conserved Domains Database

    More...
    CDDi
    cd06660 Aldo_ket_red, 1 hit

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    3.20.20.100, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR018170 Aldo/ket_reductase_CS
    IPR020471 Aldo/keto_reductase
    IPR023210 NADP_OxRdtase_dom
    IPR036812 NADP_OxRdtase_dom_sf

    The PANTHER Classification System

    More...
    PANTHERi
    PTHR11732 PTHR11732, 1 hit

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF00248 Aldo_ket_red, 1 hit

    PIRSF; a whole-protein classification database

    More...
    PIRSFi
    PIRSF000097 AKR, 1 hit

    Protein Motif fingerprint database; a protein domain database

    More...
    PRINTSi
    PR00069 ALDKETRDTASE

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF51430 SSF51430, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS00798 ALDOKETO_REDUCTASE_1, 1 hit
    PS00062 ALDOKETO_REDUCTASE_2, 1 hit
    PS00063 ALDOKETO_REDUCTASE_3, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)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 describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

    Isoform 1 (identifier: P51857-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MDLSAASHRI PLSDGNSIPI IGLGTYSEPK STPKGACATS VKVAIDTGYR
    60 70 80 90 100
    HIDGAYIYQN EHEVGEAIRE KIAEGKVRRE DIFYCGKLWA TNHVPEMVRP
    110 120 130 140 150
    TLERTLRVLQ LDYVDLYIIE VPMAFKPGDE IYPRDENGKW LYHKSNLCAT
    160 170 180 190 200
    WEAMEACKDA GLVKSLGVSN FNRRQLELIL NKPGLKHKPV SNQVECHPYF
    210 220 230 240 250
    TQPKLLKFCQ QHDIVITAYS PLGTSRNPIW VNVSSPPLLK DALLNSLGKR
    260 270 280 290 300
    YNKTAAQIVL RFNIQRGVVV IPKSFNLERI KENFQIFDFS LTEEEMKDIE
    310 320
    ALNKNVRFVE LLMWRDHPEY PFHDEY
    Length:326
    Mass (Da):37,377
    Last modified:October 1, 1996 - v1
    <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:i1FE02B95398A0A6F
    GO
    Isoform 2 (identifier: P51857-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         286-326: IFDFSLTEEEMKDIEALNKNVRFVELLMWRDHPEYPFHDEY → VARSS

    Note: No experimental confirmation available.
    Show »
    Length:290
    Mass (Da):32,748
    Checksum:iF2C7686DA906C0EC
    GO
    Isoform 3 (identifier: P51857-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         153-193: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:285
    Mass (Da):32,890
    Checksum:i5017C36EB0EB13D9
    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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    C9J3U1C9J3U1_HUMAN
    Aldo-keto reductase family 1 member...
    AKR1D1
    96Annotation 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>

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti14D → V in BAF82114 (PubMed:14702039).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_08175550 – 326Missing in CBAS2. 1 PublicationAdd BLAST277
    Natural variantiVAR_033007106L → F in CBAS2; decreases protein level; accumulates in inclusion bodies; acks of 5-beta-reductase activity. 2 PublicationsCorresponds to variant dbSNP:rs121918343EnsemblClinVar.1
    Natural variantiVAR_044430133P → R in CBAS2; highly reduced KM and Vmax with cortisone as substrate. Increases KM and decreases kcat with testosterone as substrate. No change in NADPH affinity. More thermolabile in the absence of NADPH. Reduces 5-beta-reductase activity. 2 PublicationsCorresponds to variant dbSNP:rs267606649EnsemblClinVar.1
    Natural variantiVAR_033008198P → L in CBAS2; decreases protein level; accumulates in inclusion bodies; decreases 5-beta-reductase activity. 2 PublicationsCorresponds to variant dbSNP:rs121918342EnsemblClinVar.1
    Natural variantiVAR_081756223G → E in CBAS2; decreases protein level; accumulates in inclusion bodies; decreases 5-beta-reductase activity. 2 PublicationsCorresponds to variant dbSNP:rs1228918719Ensembl.1
    Natural variantiVAR_044431261R → C in CBAS2; decreases protein level; accumulates in inclusion bodies; lacks of 5-beta-reductase activity. 2 PublicationsCorresponds to variant dbSNP:rs267606650EnsemblClinVar.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_042913153 – 193Missing in isoform 3. 1 PublicationAdd BLAST41
    Alternative sequenceiVSP_042901286 – 326IFDFS…FHDEY → VARSS in isoform 2. 1 PublicationAdd BLAST41

    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
    Z28339 mRNA Translation: CAA82193.1
    AF283659
    , AF283651, AF283652, AF283653, AF283654, AF283655, AF283656, AF283657, AF283658 Genomic DNA Translation: AAG39381.1
    AK289425 mRNA Translation: BAF82114.1
    AK298421 mRNA Translation: BAG60645.1
    AK298428 mRNA Translation: BAG60650.1
    AC009263 Genomic DNA No translation available.
    AC024082 Genomic DNA No translation available.
    AC083867 Genomic DNA No translation available.
    CH236950 Genomic DNA Translation: EAL24049.1
    CH471070 Genomic DNA Translation: EAW83881.1
    BC130625 mRNA Translation: AAI30626.1
    BC130627 mRNA Translation: AAI30628.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS55169.1 [P51857-2]
    CCDS55170.1 [P51857-3]
    CCDS5846.1 [P51857-1]

    Protein sequence database of the Protein Information Resource

    More...
    PIRi
    S41120

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001177835.1, NM_001190906.1 [P51857-3]
    NP_001177836.1, NM_001190907.1 [P51857-2]
    NP_005980.1, NM_005989.3 [P51857-1]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000242375; ENSP00000242375; ENSG00000122787 [P51857-1]
    ENST00000411726; ENSP00000402374; ENSG00000122787 [P51857-3]
    ENST00000432161; ENSP00000389197; ENSG00000122787 [P51857-2]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    6718

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:6718

    UCSC genome browser

    More...
    UCSCi
    uc003vtz.4 human [P51857-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    <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
    Z28339 mRNA Translation: CAA82193.1
    AF283659
    , AF283651, AF283652, AF283653, AF283654, AF283655, AF283656, AF283657, AF283658 Genomic DNA Translation: AAG39381.1
    AK289425 mRNA Translation: BAF82114.1
    AK298421 mRNA Translation: BAG60645.1
    AK298428 mRNA Translation: BAG60650.1
    AC009263 Genomic DNA No translation available.
    AC024082 Genomic DNA No translation available.
    AC083867 Genomic DNA No translation available.
    CH236950 Genomic DNA Translation: EAL24049.1
    CH471070 Genomic DNA Translation: EAW83881.1
    BC130625 mRNA Translation: AAI30626.1
    BC130627 mRNA Translation: AAI30628.1
    CCDSiCCDS55169.1 [P51857-2]
    CCDS55170.1 [P51857-3]
    CCDS5846.1 [P51857-1]
    PIRiS41120
    RefSeqiNP_001177835.1, NM_001190906.1 [P51857-3]
    NP_001177836.1, NM_001190907.1 [P51857-2]
    NP_005980.1, NM_005989.3 [P51857-1]

    3D structure databases

    Select the link destinations:

    Protein Data Bank Europe

    More...
    PDBei

    Protein Data Bank RCSB

    More...
    RCSB PDBi

    Protein Data Bank Japan

    More...
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    3BURX-ray1.62A/B1-326[»]
    3BUVX-ray1.35A/B1-326[»]
    3BV7X-ray1.79A/B1-326[»]
    3CAQX-ray2.20A/B1-326[»]
    3CASX-ray2.00A/B1-326[»]
    3CAVX-ray1.90A/B1-326[»]
    3CMFX-ray1.90A/B1-326[»]
    3COTX-ray2.03A/B1-326[»]
    3DOPX-ray2.00A/B1-326[»]
    3G1RX-ray1.70A/B1-326[»]
    3UZWX-ray1.89A/B1-326[»]
    3UZXX-ray1.64A/B1-326[»]
    3UZYX-ray1.83A/B1-326[»]
    3UZZX-ray1.82A/B1-326[»]
    SMRiP51857
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGridi112596, 8 interactors
    IntActiP51857, 7 interactors
    STRINGi9606.ENSP00000242375

    Chemistry databases

    DrugBankiDB07557 (5BETA)-PREGNANE-3,20-DIONE
    DB07447 5beta-dihydrotestosterone
    DB00548 Azelaic acid
    DB01216 Finasteride
    SwissLipidsiSLP:000001272 [P51857-1]

    PTM databases

    iPTMnetiP51857
    PhosphoSitePlusiP51857

    Polymorphism and mutation databases

    BioMutaiAKR1D1
    DMDMi1703007

    Proteomic databases

    EPDiP51857
    jPOSTiP51857
    MassIVEiP51857
    MaxQBiP51857
    PaxDbiP51857
    PeptideAtlasiP51857
    PRIDEiP51857
    ProteomicsDBi56436 [P51857-1]
    56437 [P51857-2]
    56438 [P51857-3]

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    6718

    Genome annotation databases

    EnsembliENST00000242375; ENSP00000242375; ENSG00000122787 [P51857-1]
    ENST00000411726; ENSP00000402374; ENSG00000122787 [P51857-3]
    ENST00000432161; ENSP00000389197; ENSG00000122787 [P51857-2]
    GeneIDi6718
    KEGGihsa:6718
    UCSCiuc003vtz.4 human [P51857-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    6718
    DisGeNETi6718

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    AKR1D1
    HGNCiHGNC:388 AKR1D1
    HPAiHPA057002
    MalaCardsiAKR1D1
    MIMi235555 phenotype
    604741 gene
    neXtProtiNX_P51857
    OpenTargetsiENSG00000122787
    Orphaneti79303 Congenital bile acid synthesis defect type 2
    PharmGKBiPA24681

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG1577 Eukaryota
    COG0656 LUCA
    GeneTreeiENSGT00940000155961
    HOGENOMiHOG000250272
    InParanoidiP51857
    KOiK00251
    OMAiRNPSWVN
    OrthoDBi1016440at2759
    PhylomeDBiP51857
    TreeFamiTF106492

    Enzyme and pathway databases

    BRENDAi1.3.1.3 2681
    ReactomeiR-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
    R-HSA-193775 Synthesis of bile acids and bile salts via 24-hydroxycholesterol
    R-HSA-193807 Synthesis of bile acids and bile salts via 27-hydroxycholesterol
    SABIO-RKiP51857

    Miscellaneous databases

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

    More...
    ChiTaRSi
    AKR1D1 human
    EvolutionaryTraceiP51857

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

    More...
    GenomeRNAii
    6718
    PharosiP51857

    Protein Ontology

    More...
    PROi
    PR:P51857

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000122787 Expressed in 51 organ(s), highest expression level in liver
    ExpressionAtlasiP51857 baseline and differential
    GenevisibleiP51857 HS

    Family and domain databases

    CDDicd06660 Aldo_ket_red, 1 hit
    Gene3Di3.20.20.100, 1 hit
    InterProiView protein in InterPro
    IPR018170 Aldo/ket_reductase_CS
    IPR020471 Aldo/keto_reductase
    IPR023210 NADP_OxRdtase_dom
    IPR036812 NADP_OxRdtase_dom_sf
    PANTHERiPTHR11732 PTHR11732, 1 hit
    PfamiView protein in Pfam
    PF00248 Aldo_ket_red, 1 hit
    PIRSFiPIRSF000097 AKR, 1 hit
    PRINTSiPR00069 ALDKETRDTASE
    SUPFAMiSSF51430 SSF51430, 1 hit
    PROSITEiView protein in PROSITE
    PS00798 ALDOKETO_REDUCTASE_1, 1 hit
    PS00062 ALDOKETO_REDUCTASE_2, 1 hit
    PS00063 ALDOKETO_REDUCTASE_3, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    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 nameiAK1D1_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: P51857
    Secondary accession number(s): A1L4P6
    , A8K060, B4DPN3, B4DPN8
    <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: October 1, 1996
    Last sequence update: October 1, 1996
    Last modified: October 16, 2019
    This is version 163 of the entry and version 1 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 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. SIMILARITY comments
      Index of protein domains and families
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
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