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Entry version 180 (07 Oct 2020)
Sequence version 2 (30 May 2000)
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Protein

Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

Gene

NSDHL

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 NAD(P)+-dependent oxidative decarboxylation of the C4 methyl groups of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis (By similarity). Plays also a role in the regulation of the endocytic trafficking of EGFR (By similarity).By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 '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

  1. KM=21.4 µM for NADH1 Publication
  2. KM=151.5 µM for NADP+1 Publication

    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: zymosterol biosynthesis

    This protein is involved in step 4 of the subpathway that synthesizes zymosterol from lanosterol.
    Proteins known to be involved in the 6 steps of the subpathway in this organism are:
    1. Lanosterol 14-alpha demethylase (CYP51A1)
    2. no protein annotated in this organism
    3. Methylsterol monooxygenase 1 (MSMO1)
    4. Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating (NSDHL)
    5. 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 (HSD17B7)
    6. no protein annotated in this organism
    This subpathway is part of the pathway zymosterol biosynthesis, which is itself part of Steroid biosynthesis.
    View all proteins of this organism that are known to be involved in the subpathway that synthesizes zymosterol from lanosterol, the pathway zymosterol biosynthesis and in Steroid biosynthesis.

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 sitei172Proton acceptorBy similarity1
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 sitei176NADBy similarity1

    <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 processCholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism
    LigandNAD

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...
    BioCyci
    MetaCyc:HS07423-MONOMER

    Pathway Commons web resource for biological pathway data

    More...
    PathwayCommonsi
    Q15738

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-191273, Cholesterol biosynthesis

    UniPathway: a resource for the exploration and annotation of metabolic pathways

    More...
    UniPathwayi
    UPA00770;UER00757

    <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%5Fand%5Ftaxonomy%5Fsection">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:
    Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating (EC:1.1.1.170By similarity)
    Alternative name(s):
    Protein H105e3
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:NSDHL
    Synonyms:H105E3
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 X

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000147383.10

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:13398, NSDHL

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    300275, gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q15738

    <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

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei298 – 318HelicalSequence analysisAdd BLAST21

    Keywords - Cellular componenti

    Endoplasmic reticulum, Lipid droplet, 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

    Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD)2 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis.
    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_010207105A → V in CHILD. 1 PublicationCorresponds to variant dbSNP:rs104894909EnsemblClinVar.1
    Natural variantiVAR_065289182A → P in CHILD. 1 PublicationCorresponds to variant dbSNP:rs104894904EnsemblClinVar.1
    Natural variantiVAR_010208205G → S in CHILD. 1 PublicationCorresponds to variant dbSNP:rs104894901EnsemblClinVar.1
    CK syndrome (CKS)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus.
    Related information in OMIM
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_065290232Missing in CKS; temperature-sensitive hypomorphic mutation; able to correctly fold and complement Erg26 mutant yeast at 30 degrees Celsius; Abolishes ability to complement Erg26 mutant yeast at 37 degrees Celsius due to abnormal folding and protein degradation. 1 Publication1

    Keywords - Diseasei

    Disease mutation, Ichthyosis, Mental retardation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    50814

    GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

    More...
    GeneReviewsi
    NSDHL

    MalaCards human disease database

    More...
    MalaCardsi
    NSDHL
    MIMi300831, phenotype
    308050, phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000147383

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

    More...
    Orphaneti
    139, CHILD syndrome
    251383, CK syndrome

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA134959020

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    Q15738, Tbio

    Chemistry databases

    Drug and drug target database

    More...
    DrugBanki
    DB00157, NADH

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    NSDHL

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    8488997

    <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_00000877991 – 373Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylatingAdd BLAST373

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
    Modified residuei22PhosphothreonineCombined sources1

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q15738

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q15738

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    Q15738

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q15738

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

    More...
    PaxDbi
    Q15738

    PeptideAtlas

    More...
    PeptideAtlasi
    Q15738

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q15738

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    60727

    2D gel databases

    REPRODUCTION-2DPAGE

    More...
    REPRODUCTION-2DPAGEi
    Q15738

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q15738

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

    More...
    PhosphoSitePlusi
    Q15738

    SwissPalm database of S-palmitoylation events

    More...
    SwissPalmi
    Q15738

    <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

    Brain, heart, liver, lung, kidney, skin and placenta.

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000147383, Expressed in adrenal tissue and 216 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q15738, baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q15738, HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    ENSG00000147383, Low tissue specificity

    <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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Homodimer.

    1 Publication

    <p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    Hide details

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...
    BioGRIDi
    119131, 41 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    Q15738, 22 interactors

    Molecular INTeraction database

    More...
    MINTi
    Q15738

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000359297

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...
    RNActi
    Q15738, 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

    1373
    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
    Q15738

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    Protein Data Bank in Europe - Knowledge Base

    More...
    PDBe-KBi
    Search...

    <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

    Motif

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi370 – 373Prevents secretion from ERBy similarity4

    <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 3-beta-HSD family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG1430, Eukaryota

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000158229

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q15738

    KEGG Orthology (KO)

    More...
    KOi
    K07748

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    WGPGDTQ

    Database of Orthologous Groups

    More...
    OrthoDBi
    930591at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q15738

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF354279

    Family and domain databases

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR002225, 3Beta_OHSteriod_DH/Estase
    IPR036291, NAD(P)-bd_dom_sf

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF01073, 3Beta_HSD, 1 hit

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF51735, SSF51735, 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%5Flength">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>Sequence (1+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 1 potential isoform that is computationally mapped.Show allAlign All

    Q15738-1 [UniParc]FASTAAdd to basket
    « Hide
            10         20         30         40         50
    MEPAVSEPMR DQVARTHLTE DTPKVNADIE KVNQNQAKRC TVIGGSGFLG
    60 70 80 90 100
    QHMVEQLLAR GYAVNVFDIQ QGFDNPQVRF FLGDLCSRQD LYPALKGVNT
    110 120 130 140 150
    VFHCASPPPS SNNKELFYRV NYIGTKNVIE TCKEAGVQKL ILTSSASVIF
    160 170 180 190 200
    EGVDIKNGTE DLPYAMKPID YYTETKILQE RAVLGANDPE KNFLTTAIRP
    210 220 230 240 250
    HGIFGPRDPQ LVPILIEAAR NGKMKFVIGN GKNLVDFTFV ENVVHGHILA
    260 270 280 290 300
    AEQLSRDSTL GGKAFHITND EPIPFWTFLS RILTGLNYEA PKYHIPYWVA
    310 320 330 340 350
    YYLALLLSLL VMVISPVIQL QPTFTPMRVA LAGTFHYYSC ERAKKAMGYQ
    360 370
    PLVTMDDAME RTVQSFRHLR RVK
    Length:373
    Mass (Da):41,900
    Last modified:May 30, 2000 - v2
    <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:i30A6E5CE91ED1C77
    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
    C9JDR0C9JDR0_HUMAN
    Sterol-4-alpha-carboxylate 3-dehydr...
    NSDHL
    254Annotation score:

    Annotation score:2 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
    Natural variantiVAR_010207105A → V in CHILD. 1 PublicationCorresponds to variant dbSNP:rs104894909EnsemblClinVar.1
    Natural variantiVAR_065289182A → P in CHILD. 1 PublicationCorresponds to variant dbSNP:rs104894904EnsemblClinVar.1
    Natural variantiVAR_010208205G → S in CHILD. 1 PublicationCorresponds to variant dbSNP:rs104894901EnsemblClinVar.1
    Natural variantiVAR_065290232Missing in CKS; temperature-sensitive hypomorphic mutation; able to correctly fold and complement Erg26 mutant yeast at 30 degrees Celsius; Abolishes ability to complement Erg26 mutant yeast at 37 degrees Celsius due to abnormal folding and protein degradation. 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
    U47105 mRNA Translation: AAC50558.2
    U82671 Genomic DNA No translation available.
    CH471172 Genomic DNA Translation: EAW72898.1
    CH471172 Genomic DNA Translation: EAW72899.1
    BC000245 mRNA Translation: AAH00245.1
    BC007816 mRNA Translation: AAH07816.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS14717.1

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001123237.1, NM_001129765.1
    NP_057006.1, NM_015922.2
    XP_011529480.1, XM_011531178.2

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000370274; ENSP00000359297; ENSG00000147383
    ENST00000440023; ENSP00000391854; ENSG00000147383

    Database of genes from NCBI RefSeq genomes

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    GeneIDi
    50814

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:50814

    UCSC genome browser

    More...
    UCSCi
    uc004fgs.2, human

    <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
    U47105 mRNA Translation: AAC50558.2
    U82671 Genomic DNA No translation available.
    CH471172 Genomic DNA Translation: EAW72898.1
    CH471172 Genomic DNA Translation: EAW72899.1
    BC000245 mRNA Translation: AAH00245.1
    BC007816 mRNA Translation: AAH07816.1
    CCDSiCCDS14717.1
    RefSeqiNP_001123237.1, NM_001129765.1
    NP_057006.1, NM_015922.2
    XP_011529480.1, XM_011531178.2

    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
    6JKGX-ray2.90A/B31-267[»]
    6JKHX-ray3.00A/B31-267[»]
    SMRiQ15738
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGRIDi119131, 41 interactors
    IntActiQ15738, 22 interactors
    MINTiQ15738
    STRINGi9606.ENSP00000359297

    Chemistry databases

    DrugBankiDB00157, NADH

    PTM databases

    iPTMnetiQ15738
    PhosphoSitePlusiQ15738
    SwissPalmiQ15738

    Polymorphism and mutation databases

    BioMutaiNSDHL
    DMDMi8488997

    2D gel databases

    REPRODUCTION-2DPAGEiQ15738

    Proteomic databases

    EPDiQ15738
    jPOSTiQ15738
    MassIVEiQ15738
    MaxQBiQ15738
    PaxDbiQ15738
    PeptideAtlasiQ15738
    PRIDEiQ15738
    ProteomicsDBi60727

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...
    Antibodypediai
    349, 129 antibodies

    The DNASU plasmid repository

    More...
    DNASUi
    50814

    Genome annotation databases

    EnsembliENST00000370274; ENSP00000359297; ENSG00000147383
    ENST00000440023; ENSP00000391854; ENSG00000147383
    GeneIDi50814
    KEGGihsa:50814
    UCSCiuc004fgs.2, human

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    50814
    DisGeNETi50814
    EuPathDBiHostDB:ENSG00000147383.10

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    NSDHL
    GeneReviewsiNSDHL
    HGNCiHGNC:13398, NSDHL
    HPAiENSG00000147383, Low tissue specificity
    MalaCardsiNSDHL
    MIMi300275, gene
    300831, phenotype
    308050, phenotype
    neXtProtiNX_Q15738
    OpenTargetsiENSG00000147383
    Orphaneti139, CHILD syndrome
    251383, CK syndrome
    PharmGKBiPA134959020

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG1430, Eukaryota
    GeneTreeiENSGT00940000158229
    InParanoidiQ15738
    KOiK07748
    OMAiWGPGDTQ
    OrthoDBi930591at2759
    PhylomeDBiQ15738
    TreeFamiTF354279

    Enzyme and pathway databases

    UniPathwayiUPA00770;UER00757
    BioCyciMetaCyc:HS07423-MONOMER
    PathwayCommonsiQ15738
    ReactomeiR-HSA-191273, Cholesterol biosynthesis

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...
    BioGRID-ORCSi
    50814, 11 hits in 503 CRISPR screens

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    NSDHL

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

    More...
    GenomeRNAii
    50814
    PharosiQ15738, Tbio

    Protein Ontology

    More...
    PROi
    PR:Q15738
    RNActiQ15738, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000147383, Expressed in adrenal tissue and 216 other tissues
    ExpressionAtlasiQ15738, baseline and differential
    GenevisibleiQ15738, HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR002225, 3Beta_OHSteriod_DH/Estase
    IPR036291, NAD(P)-bd_dom_sf
    PfamiView protein in Pfam
    PF01073, 3Beta_HSD, 1 hit
    SUPFAMiSSF51735, SSF51735, 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 nameiNSDHL_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: Q15738
    Secondary accession number(s): D3DWT6, O00344
    <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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: May 30, 2000
    Last modified: October 7, 2020
    This is version 180 of the entry and version 2 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 polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    4. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    5. SIMILARITY comments
      Index of protein domains and families
    6. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    7. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
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