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Entry version 185 (29 Sep 2021)
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_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 '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_section">'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. 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_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 sitei172Proton acceptorBy similarity1
<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 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

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.1.1.170, 2681

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_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:
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_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:NSDHL
Synonyms:H105E3
<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 X

Organism-specific databases

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000147383

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the 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 variants 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 variants affecting the gene represented in this entry.
Disease descriptionAn X-linked recessive 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 variant, 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

Genetic variation 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

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jPOSTi
Q15738

MassIVE - Mass Spectrometry Interactive Virtual Environment

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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

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PRIDEi
Q15738

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
60727

2D gel databases

REPRODUCTION-2DPAGE

More...
REPRODUCTION-2DPAGEi
Q15738

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

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GlyGeni
Q15738, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

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

Homodimer.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">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)

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BioGRIDi
119131, 62 interactors

Protein interaction database and analysis system

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IntActi
Q15738, 24 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

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SMRi
Q15738

Database of comparative protein structure models

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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

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eggNOGi
KOG1430, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000158229

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q15738

Identification of Orthologs from Complete Genome Data

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OMAi
WGPGDTQ

Database of Orthologous Groups

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OrthoDBi
930591at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q15738

TreeFam database of animal gene trees

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TreeFami
TF354279

Family and domain databases

Integrated resource of protein families, domains and functional sites

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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_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>Sequence (1+)i

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

This entry has 1 described isoform and 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

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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

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CCDSi
CCDS14717.1

NCBI Reference Sequences

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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

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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

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RCSB PDBi

Protein Data Bank Japan

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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, 62 interactors
IntActiQ15738, 24 interactors
MINTiQ15738
STRINGi9606.ENSP00000359297

Chemistry databases

DrugBankiDB00157, NADH

PTM databases

GlyGeniQ15738, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ15738
PhosphoSitePlusiQ15738
SwissPalmiQ15738

Genetic variation 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

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Antibodypediai
349, 138 antibodies

The DNASU plasmid repository

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DNASUi
50814

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
50814
DisGeNETi50814

GeneCards: human genes, protein and diseases

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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
VEuPathDBiHostDB:ENSG00000147383

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1430, Eukaryota
GeneTreeiENSGT00940000158229
InParanoidiQ15738
OMAiWGPGDTQ
OrthoDBi930591at2759
PhylomeDBiQ15738
TreeFamiTF354279

Enzyme and pathway databases

UniPathwayiUPA00770;UER00757
BioCyciMetaCyc:HS07423-MONOMER
BRENDAi1.1.1.170, 2681
PathwayCommonsiQ15738
ReactomeiR-HSA-191273, Cholesterol biosynthesis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
50814, 15 hits in 646 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
NSDHL

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

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GenomeRNAii
50814
PharosiQ15738, Tbio

Protein Ontology

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PROi
PR:Q15738
RNActiQ15738, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000147383, Expressed in adrenal tissue and 217 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

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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_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: November 1, 1997
Last sequence update: May 30, 2000
Last modified: September 29, 2021
This is version 185 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 chromosome X
    Human chromosome X: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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