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NSDHL Gene

protein-coding   GIFtS: 68
GCID: GC0XP151999

NAD(P) Dependent Steroid Dehydrogenase-Like

  See NSDHL-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NAD(P) Dependent Steroid Dehydrogenase-Like1 2     Short Chain Dehydrogenase/Reductase Family 31E1
Protein H105e32 3     SDR31E12
H105E32 3     XAP1042
EC 1.1.1.1703 8     Short Chain Dehydrogenase/Reductase Family 31E, Member 12
Member 11     Sterol-4-Alpha-Carboxylate 3-Dehydrogenase, Decarboxylating2

External Ids:    HGNC: 133981   Entrez Gene: 508142   Ensembl: ENSG000001473837   OMIM: 3002755   UniProtKB: Q157383   

Export aliases for NSDHL gene to outside databases

Previous GC identifers: GC0XP150618 GC0XP151670 GC0XP151750 GC0XP140816


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NSDHL Gene:
The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol
biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of
lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced
transcript variants with differing 5' UTR have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for NSDHL Gene:
NSDHL (NAD(P) dependent steroid dehydrogenase-like) is a protein-coding gene. Diseases associated with NSDHL include child syndrome, and nsdhl-related disorders. GO annotations related to this gene include 3-beta-hydroxy-delta5-steroid dehydrogenase activity and sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity. An important paralog of this gene is SDR42E1.

Gene Wiki entry for NSDHL Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011681.17  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NSDHL gene promoter:
         HOXA9   AML1a   GCNF   GCNF-1   STAT3   CUTL1   GCNF-2   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNSDHL promoter sequence
   Search Chromatin IP Primers for NSDHL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NSDHL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

NSDHL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NSDHL gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP151999:  view genomic region     (about GC identifiers)

Start:
151,999,511 bp from pter      End:
152,038,273 bp from pter
Size:
38,763 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NSDHL_HUMAN, Q15738 (See protein sequence)
Recommended Name: Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating  
Size: 373 amino acids; 41900 Da
Secondary accessions: D3DWT6 O00344

Explore the universe of human proteins at neXtProt for NSDHL: NX_Q15738

Explore proteomics data for NSDHL at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys96, Lys191
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for NSDHL (Q15738)
     QDLYPALKGV  LGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPY 


    See NSDHL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001123237.1  NP_057006.1  

    ENSEMBL proteins: 
     ENSP00000359297   ENSP00000396266   ENSP00000391854  
    Reactome Protein details: Q15738

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SDRE: Short chain dehydrogenase/reductase superfamily / Extended SDR fold

    2 InterPro protein domains:
     IPR002225 3Beta_OHSteriod_DH/Estase
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q15738

    ProtoNet protein and cluster: Q15738

    1 Blocks protein domain: IPB002225 3-beta hydroxysteroid dehydrogenase/isomerase

    UniProtKB/Swiss-Prot: NSDHL_HUMAN, Q15738
    Similarity: Belongs to the 3-beta-HSD family


    Find genes that share domains with NSDHL           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NSDHL_HUMAN, Q15738
    Catalytic activity: A 3-beta-hydroxysteroid-4-alpha-carboxylate + NAD(P)(+) = a 3-oxosteroid + CO(2) + NAD(P)H

         Enzyme Number (IUBMB): EC 1.1.1.1701 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:00038543-beta-hydroxy-delta5-steroid dehydrogenase activity IEA--
    GO:0008831dTDP-4-dehydrorhamnose reductase activity ----
    GO:0016616oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor ----
    GO:0047012sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity IEA--
         
    Find genes that share ontologies with NSDHL           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for NSDHL:
     Increased G1 DNA content 

         12 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Nsdhl):
     behavior/neurological  cardiovascular system  embryogenesis  growth/size/body  homeostasis/metabolism 
     integument  limbs/digits/tail  mortality/aging  nervous system  pigmentation 
     skeleton  vision/eye 

    Find genes that share phenotypes with NSDHL           About GenesLikeMe

    Animal Models:
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    hsa-mir-193b-3p (MIRT016464)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NSDHL_HUMAN, Q15738: Membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    cytosol2
    peroxisome2
    extracellular1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005811lipid particle IDA14741744
    GO:0016021integral component of membrane IEA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    Find genes that share ontologies with NSDHL           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NSDHL About    
    See pathways by source

    SuperPathContained pathways About
    1superpathway of cholesterol biosynthesis
    superpathway of cholesterol biosynthesis0.85
    Steroid biosynthesis0.57
    Cholesterol biosynthesis0.85
    zymosterol biosynthesis0.00
    Cholesterol biosynthesis0.62
    cholesterol biosynthesis III (via desmosterol)0.00
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)0.59
    cholesterol biosynthesis I0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38


    Find genes that share SuperPaths with NSDHL           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected BioSystems Pathways for NSDHL (see all 6)
        Cholesterol biosynthesis
    zymosterol biosynthesis
    cholesterol biosynthesis I
    superpathway of cholesterol biosynthesis
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)


    1 Reactome Pathway for NSDHL
        Cholesterol biosynthesis


    2 Kegg Pathways  (Kegg details for NSDHL):
        Steroid biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: NSDHL_HUMAN, Q15738
    Pathway: Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 4/6

        Pathway & Disease-focused RT2 Profiler PCR Array including NSDHL: 

              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NSDHL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NSDHL (Q157383 ENSP000003592974) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000258947Q135093I2D: score=2 
    FDFT1P372683, ENSP000002205844I2D: score=2 STRING: ENSP00000220584
    LSSP484493, ENSP000003487624I2D: score=2 STRING: ENSP00000348762
    MDN1Q9NU223, ENSP000003584004I2D: score=2 STRING: ENSP00000358400
    SQLEQ145343, ENSP000002658964I2D: score=2 STRING: ENSP00000265896
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001942hair follicle development IEA--
    GO:0006694steroid biosynthetic process ----
    GO:0006695cholesterol biosynthetic process TAS--
    GO:0007224smoothened signaling pathway IEA--
    GO:0008203cholesterol metabolic process ----

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    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NSDHL

    Selected HMDB Compounds for NSDHL (see all 13)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Keto-4-methylzymosterol4-methyl-5a-cholesta-8,24-dien-3-one (see all 6)----
    3-beta-Hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylate3beta-Hydroxy-4beta-methyl-5alpha-cholest-7-ene-4alpha-carboxylate (see all 5)----
    4a-Carboxy-4b-methyl-5a-cholesta-8,24-dien-3b-ol4a-carboxy-4b-methyl-5a-cholesta-8,24-dien-3b-ol (see all 2)----
    4a-Methylzymosterol-4-carboxylic acid4alpha-Carboxy-4beta-methyl-5alpha-cholesta-8,24-dien-3beta-ol (see all 2)----
    5a-Cholesta-8,24-dien-3-one5alpha-cholesta-8,24-dien-3-one ----
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Lathosterol(3beta)-Cholest-7-en-3-ol (see all 26)80-99-9--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--

    1 DrugBank Compound for NSDHL    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423 15805545

    4 Novoseek inferred chemical compound relationships for NSDHL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    emopamil 91.3 2 17498944 (1), 10710235 (1)
    3beta-hydroxysteroid 70.6 3 10710235 (2), 16230564 (1)
    cholesterol 53.4 10 12837764 (2), 10710235 (2), 12966526 (1), 14726863 (1) (see all 8)
    lipid 0 5 12837764 (5)



    Find genes that share compounds with NSDHL           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NSDHL gene (2 alternative transcripts): 
    NM_001129765.1  NM_015922.2  

    Unigene Cluster for NSDHL:

    NAD(P) dependent steroid dehydrogenase-like
    Hs.57698  [show with all ESTs]
    Unigene Representative Sequence: AK026549
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370274(uc004fgs.1) ENST00000432467 ENST00000440023(uc004fgt.1)

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    Additional mRNA sequence: 

    AK026549.1 BC000245.1 BC007816.2 U47105.2 

    9 DOTS entries:

    DT.314300  DT.100784885  DT.100784882  DT.100784884  DT.100784889  DT.100784881  DT.121288699  DT.92036644 
    DT.95093580 

    Selected AceView cDNA sequences (see all 187):

    BC000245 CR625562 CR626623 BU739538 BQ445887 AU104853 NM_015922 CR593268 
    AI360326 BC007816 BI908710 BQ227567 BQ028306 BF353865 BF793480 CR609334 
    AJ713820 BM713508 BE408485 CB241973 BM550912 U47105 CR611612 BQ052273 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NSDHL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAACTGGATT
    NSDHL Expression
    About this image


    NSDHL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Trophoblast (Extraembryonic Tissues)    fully expand to see all 2 entries
             Mural Trophectoderm Cells Mural Trophectoderm
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Horizontal Cells Inner Nuclear Layer
             Lens
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Oviduct
             Mature follicles
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
    NSDHL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NSDHL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.57698

    UniProtKB/Swiss-Prot: NSDHL_HUMAN, Q15738
    Tissue specificity: Brain, heart, liver, lung, kidney, skin and placenta

        Pathway & Disease-focused RT2 Profiler PCR Array including NSDHL: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSDHL

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NSDHL gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nsdhl1 , 5 NAD(P) dependent steroid dehydrogenase-like1, 5 85.23(n)1
    85.87(a)1
      X (37.29 cM)5
    181941  NM_010941.31  NP_035071.31 
     729185575 
    chicken
    (Gallus gallus)
    Aves NSDHL1 NAD(P) dependent steroid dehydrogenase-like 74.31(n)
    75.88(a)
      422302  XM_420279.3  XP_420279.1 
    lizard
    (Anolis carolinensis)
    Reptilia NSDHL6
    NAD(P) dependent steroid dehydrogenase-like
    75(a)
    1 ↔ 1
    GL343202.1(1706299-1712383)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nsdhl1 NAD(P) dependent steroid dehydrogenase-like 70.95(n)
    77.31(a)
      550044  NM_001017290.2  NP_001017290.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nsdhl1 NAD(P) dependent steroid dehydrogenase-like 65.27(n)
    67.46(a)
      550369  NM_001017674.1  NP_001017674.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG26(YGL001C)4
    ERG261
    C-3 sterol dehydrogenase, catalyzes the second of three more4
    ERG261
    48.32(n)1
    40.88(a)1
      7(496502-495453)4
    8528831, 4  NP_011514.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons 3BETAHSD/D21 3BETAHSD/D2 47.73(n)
    42.9(a)
      817166  NM_128183.3  NP_180194.2 
    rice
    (Oryza sativa)
    Liliopsida Os03g04050001 Os03g0405000 49.75(n)
    42.34(a)
      4333071  NM_001056862.1  NP_001050327.1 


    ENSEMBL Gene Tree for NSDHL (if available)
    TreeFam Gene Tree for NSDHL (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NSDHL gene
    SDR42E12  HSD3B22  SDR42E22  HSD3B72  HSD3B12  
    2 SIMAP similar genes for NSDHL using alignment to 2 protein entries:     NSDHL_HUMAN (see all proteins):
    SDR42E1    SDR42E2

    Find genes that share paralogs with NSDHL           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NSDHL (see all 653)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0102084
    Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD)4--see VAR_0102082 G S mis40--------
    VAR_0652894
    Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD)4--see VAR_0652892 A P mis40--------
    VAR_0102074
    Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD)4--see VAR_0102072 A V mis40--------
    rs1048949031,2
    Cpathogenic1151885602(+) GCAGCC/TGACAG 4 R * stg10--------
    rs1048949091,2
    Cpathogenic1151894003(+) CTGTGC/TGTCAC 4 A V mis10--------
    rs1048949051,2
    Cpathogenic1151897819(+) TCTTTG/TAGGGC 4 E * stg10--------
    rs1048949041,2
    Cpathogenic1151901006(+) TCCAGC/GCAGTT 4 P A mis10--------
    rs1048949011,2
    Cpathogenic1151901075(+) TTTTCA/GGCCCA 4 S G mis10--------
    rs1048949021,2
    Cpathogenic1151901090(+) ACCCGC/TAGTTG 4 Q * stg10--------
    rs1219098331,2
    Cpathogenic1151902767(+) GGGAA-/GAACTTGG 2 N cds10--------

    HapMap Linkage Disequilibrium report for NSDHL (151999511 - 152038273 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for NSDHL:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv273004CNV Insertion20981092
    esv269380CNV Insertion20981092
    nsv7158CNV Insertion18451855
    nsv470373CNV Gain18288195
    esv25868CNV Gain19812545
    dgv2493e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): NSDHL
    Locus Specific Mutation Databases (LSDB): NSDHL

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NSDHL
    DNA2.0 Custom Variant and Variant Library Synthesis for NSDHL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300275   
    OMIM disorders: 308050  300831  
    UniProtKB/Swiss-Prot: NSDHL_HUMAN, Q15738
  • Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]: An
    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. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • CK syndrome (CKS) [MIM:300831]: A disorder characterized by mild to severe cognitive impairment,
    seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for NSDHL:    
    About MalaCards
    child syndrome    nsdhl-related disorders    verruciform xanthoma of skin    chikungunya
    congenital hemidysplasia with ichthyosiform erythroderma and limb defects    children's interstitial lung disease

    3 diseases from the University of Copenhagen DISEASES database for NSDHL:
    Verruciform xanthoma of skin     Congenital ichthyosiform erythroderma     Smith-Lemli-Opitz syndrome

    Find genes that share disorders with NSDHL           About GenesLikeMe

    4 Novoseek inferred disease relationships for NSDHL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    child syndrome 97.3 13 12966526 (3), 10710235 (3), 16088165 (2), 15639195 (1) (see all 7)
    cdpx2 87.3 1 10710235 (1)
    nevi 77.3 3 12966526 (1), 15805545 (1), 10710235 (1)
    xanthoma 68.6 1 16230564 (1)

    Genetic Association Database (GAD): NSDHL
    Human Genome Epidemiology (HuGE) Navigator: NSDHL (1 document)

    Export disorders for NSDHL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NSDHL gene, integrated from 10 sources (see all 50):
    (articles sorted by number of sources associating them with NSDHL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. (PubMed id 10710235)1, 2, 3, 9 Konig A.... Grzeschik K.H. (Am. J. Med. Genet. 2000)
    2. Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets. (PubMed id 12837764)1, 3, 9 Ohashi M....Yoshimori T. (J. Biol. Chem. 2003)
    3. Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts. (PubMed id 15805545)1, 7, 9 Cunningham D....Herman G.E. (J. Lipid Res. 2005)
    4. Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. (PubMed id 21129721)1, 2 McLarren K.W.... Boerkoel C.F. (Am. J. Hum. Genet. 2010)
    5. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (Chem. Biol. Interact. 2009)
    6. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (J. Lipid Res. 2008)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. (PubMed id 11907515)1, 2 Konig A.... Grzeschik K.H. (J. Am. Acad. Dermatol. 2002)
    9. Comparative genome sequence analysis of the Bpa/Str region in mouse and man. (PubMed id 10854409)1, 2 Mallon A.-M....Brown S.D.M. (Genome Res. 2000)
    10. A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28. (PubMed id 8828036)1, 2 Levin M.L.... Herman G.E. (Genome Res. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 50814 HGNC: 13398 AceView: NSDHL Ensembl:ENSG00000147383 euGenes: HUgn50814
    ECgene: NSDHL Kegg: 50814 H-InvDB: NSDHL

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NSDHL Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NSDHL gene:
    Search GeneIP for patents involving NSDHL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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