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Entry version 173 (29 Sep 2021)
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

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
P51857

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000122787

<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

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 variants 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 variant, 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, Tbio

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB07557, 3,20-Pregnanedione
DB07447, 5beta-dihydrotestosterone
DB00548, Azelaic acid
DB01216, Finasteride
DB00741, Hydrocortisone
DB06077, Lumateperone
DB00717, Norethisterone

Genetic variation 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 or proteolytic cleavage.<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 liver and 67 other tissues

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
ENSG00000122787, Tissue enriched (liver)

<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

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P51857, protein

<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

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eggNOGi
KOG1577, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000155961

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_023205_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P51857

Identification of Orthologs from Complete Genome Data

More...
OMAi
AFKPGNE

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
cd19109, AKR_AKR1D1-3, 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
IPR020471, AKR
IPR044483, AKR1D1
IPR018170, Aldo/ket_reductase_CS
IPR023210, NADP_OxRdtase_dom
IPR036812, NADP_OxRdtase_dom_sf

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

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.

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

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
Z28339 mRNA Translation: CAA82193.1
AF283659 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

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

Protein sequence database of the Protein Information Resource

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PIRi
S41120

NCBI Reference Sequences

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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

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GeneIDi
6718

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6718

UCSC genome browser

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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 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

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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
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, 3,20-Pregnanedione
DB07447, 5beta-dihydrotestosterone
DB00548, Azelaic acid
DB01216, Finasteride
DB00741, Hydrocortisone
DB06077, Lumateperone
DB00717, Norethisterone
SwissLipidsiSLP:000001272 [P51857-1]

PTM databases

iPTMnetiP51857
PhosphoSitePlusiP51857

Genetic variation 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

Antibodypedia a portal for validated antibodies

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Antibodypediai
32317, 256 antibodies

The DNASU plasmid repository

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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

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GeneCardsi
AKR1D1
HGNCiHGNC:388, AKR1D1
HPAiENSG00000122787, Tissue enriched (liver)
MalaCardsiAKR1D1
MIMi235555, phenotype
604741, gene
neXtProtiNX_P51857
OpenTargetsiENSG00000122787
Orphaneti79303, Congenital bile acid synthesis defect type 2
PharmGKBiPA24681
VEuPathDBiHostDB:ENSG00000122787

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1577, Eukaryota
GeneTreeiENSGT00940000155961
HOGENOMiCLU_023205_0_0_1
InParanoidiP51857
OMAiAFKPGNE
OrthoDBi1016440at2759
PhylomeDBiP51857
TreeFamiTF106492

Enzyme and pathway databases

BRENDAi1.3.1.3, 2681
PathwayCommonsiP51857
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

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
6718, 27 hits in 1008 CRISPR screens

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, Tbio

Protein Ontology

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PROi
PR:P51857
RNActiP51857, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000122787, Expressed in liver and 67 other tissues
ExpressionAtlasiP51857, baseline and differential
GenevisibleiP51857, HS

Family and domain databases

CDDicd19109, AKR_AKR1D1-3, 1 hit
Gene3Di3.20.20.100, 1 hit
InterProiView protein in InterPro
IPR020471, AKR
IPR044483, AKR1D1
IPR018170, Aldo/ket_reductase_CS
IPR023210, NADP_OxRdtase_dom
IPR036812, NADP_OxRdtase_dom_sf
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

MobiDB: a database of protein disorder and mobility annotations

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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: September 29, 2021
This is version 173 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, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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