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    NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL [ Homo sapiens (human) ]

    Gene ID: 50814, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NSDHLprovided by HGNC
    Official Full Name
    NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHLprovided by HGNC
    Primary source
    HGNC:HGNC:13398
    See related
    Ensembl:ENSG00000147383 MIM:300275; AllianceGenome:HGNC:13398
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    H105E3; XAP104; SDR31E1
    Summary
    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]
    Expression
    Ubiquitous expression in esophagus (RPKM 14.3), adrenal (RPKM 14.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NSDHL in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (152831063..152869729)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (151097547..151136220)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (151999607..152038273)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene MAGEA6 divergent transcript Neighboring gene MAGE family member A4 pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:151987738-151988937 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21058 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:152010347-152010520 Neighboring gene centrin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152065863-152066363 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152070232-152070754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152072629-152073160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30028 Neighboring gene zinc finger protein 185 with LIM domain Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152084281-152084854 Neighboring gene uncharacterized LOC124905237 Neighboring gene uncharacterized LOC105373372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30030

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. König A, et al. Am J Med Genet, 2000 Feb 14. PMID 10710235
    2. Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. Hummel M, et al. Am J Med Genet A, 2003 Oct 15. PMID 12966526
    3. Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets. Ohashi M, et al. J Biol Chem, 2003 Sep 19. PMID 12837764
    4. A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. König A, et al. J Am Acad Dermatol, 2002 Apr. PMID 11907515
    5. NSDHL-Related Disorders. Adam MP, et al. , 1993. PMID 21290788

    See all (110) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NAD(P)-dependent steroid dehydrogenase-like protein and neutral cholesterol ester hydrolase 1 serve as novel markers for early detection of gastric cancer identified using quantitative proteomics.
      Title: NAD(P)-dependent steroid dehydrogenase-like protein and neutral cholesterol ester hydrolase 1 serve as novel markers for early detection of gastric cancer identified using quantitative proteomics.
    2. NSDHL promotes triple-negative breast cancer metastasis through the TGFbeta signaling pathway and cholesterol biosynthesis.
      Title: NSDHL promotes triple-negative breast cancer metastasis through the TGFβ signaling pathway and cholesterol biosynthesis.
    3. CHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G.
      Title: CHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G.
    4. Crystal structures of human NSDHL and development of its novel inhibitor with the potential to suppress EGFR activity.
      Title: Crystal structures of human NSDHL and development of its novel inhibitor with the potential to suppress EGFR activity.
    5. NAD(P)-dependent steroid dehydrogenase-like is involved in breast cancer cell growth and metastasis.
      Title: NAD(P)-dependent steroid dehydrogenase-like is involved in breast cancer cell growth and metastasis.
    6. NSDHL gene mutations associated with CHILD syndrome are common in sporadic oral verruciform xanthoma cases, suggesting that these mutations confer a greater risk for the development of epithelial barrier defects
      Title: Identification of NSDHL mutations associated with CHILD syndrome in oral verruciform xanthoma.
    7. NSDHL-containing duplication at chromosome Xq28 inherited from his mother in a male patient with autism spectrum disorder has been reported.
      Title: NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report.
    8. Here we present the case of a 9-year-old Chinese girl born with the typical clinical features of CHILD syndrome. Evaluation of the skin lesions confirmed the diagnosis and led to identification of a heterozygous point mutation in exon 8 of the NSDHL gene.
      Title: CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation.
    9. Our findings expand the spectrum of mutations in NSDHL in CHILD syndrome, and indicate that large exon deletions may be not rare.
      Title: Large deletions in the NSDHL gene in two patients with CHILD syndrome.
    10. A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
      Title: A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Child syndrome
    MedGen: C0265267 OMIM: 308050 GeneReviews: NSDHL-Related Disorders
    		not available
    CK syndrome
    MedGen: C3151781 OMIM: 300831 GeneReviews: NSDHL-Related Disorders
    		not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-09-25)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2019-09-25)

    ClinGen Genome Curation Page

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-beta-hydroxy-delta5-steroid dehydrogenase (NAD+) activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables 3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity TAS
    Traceable Author Statement
    more info
    		  
    enables oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cholesterol biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in cholesterol metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in hair follicle development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in labyrinthine layer blood vessel development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
    Names
    3-beta-hydroxysteroid dehydrogenase
    3beta-hydroxysteroid-4alpha-carboxylate 3-dehydrogenase (decarboxylating)
    NAD(P) dependent steroid dehydrogenase-like protein transcript
    epididymis secretory sperm binding protein
    protein H105e3
    short chain dehydrogenase/reductase family 31E, member 1
    NP_001123237.1
    NP_057006.1
    XP_011529480.1
    XP_016885053.1
    XP_054183138.1
    XP_054183139.1
    XP_054189319.1
    XP_054189320.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009163.2 RefSeqGene

      Range
      5097..43763
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001129765.2 → NP_001123237.1  sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

      See identical proteins and their annotated locations for NP_001123237.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an additional 5' non-coding exon, hence has a longer 5' UTR compared to variant 1. Transcript variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC007816, U47105, U82671
      Consensus CDS
      CCDS14717.1
      UniProtKB/Swiss-Prot
      D3DWT6, O00344, Q15738
      UniProtKB/TrEMBL
      A0A384NPZ7, A0A7D5Q2L7
      Related
      ENSP00000391854.1, ENST00000440023.5
      Conserved Domains (1) summary
      cd09813
      Location:39 → 366
      3b-HSD-NSDHL-like_SDR_e; human NSDHL (NAD(P)H steroid dehydrogenase-like protein)-like, extended (e) SDRs

    2. NM_015922.3 → NP_057006.1  sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

      See identical proteins and their annotated locations for NP_057006.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the more predominant transcript. Transcript variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC007816, U47105, U82671
      Consensus CDS
      CCDS14717.1
      UniProtKB/Swiss-Prot
      D3DWT6, O00344, Q15738
      UniProtKB/TrEMBL
      A0A384NPZ7, A0A7D5Q2L7
      Related
      ENSP00000359297.3, ENST00000370274.8
      Conserved Domains (1) summary
      cd09813
      Location:39 → 366
      3b-HSD-NSDHL-like_SDR_e; human NSDHL (NAD(P)H steroid dehydrogenase-like protein)-like, extended (e) SDRs

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      152831063..152869729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531178.3 → XP_011529480.1  sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating isoform X2

      See identical proteins and their annotated locations for XP_011529480.1

      UniProtKB/Swiss-Prot
      D3DWT6, O00344, Q15738
      UniProtKB/TrEMBL
      A0A384NPZ7, A0A7D5Q2L7
      Conserved Domains (1) summary
      cd09813
      Location:39 → 366
      3b-HSD-NSDHL-like_SDR_e; human NSDHL (NAD(P)H steroid dehydrogenase-like protein)-like, extended (e) SDRs

    2. XM_017029564.2 → XP_016885053.1  sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating isoform X1

      UniProtKB/TrEMBL
      A0A7D5Q2L7

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791818.1 Reference GRCh38.p14 PATCHES

      Range
      446253..484919
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333345.1 → XP_054189320.1  sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating isoform X2

      UniProtKB/Swiss-Prot
      D3DWT6, O00344, Q15738
      UniProtKB/TrEMBL
      A0A384NPZ7, A0A7D5Q2L7

    2. XM_054333344.1 → XP_054189319.1  sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating isoform X1

      UniProtKB/TrEMBL
      A0A7D5Q2L7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      151097547..151136220
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327164.1 → XP_054183139.1  sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating isoform X2

      UniProtKB/Swiss-Prot
      D3DWT6, O00344, Q15738
      UniProtKB/TrEMBL
      A0A384NPZ7, A0A7D5Q2L7

    2. XM_054327163.1 → XP_054183138.1  sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating isoform X1

      UniProtKB/TrEMBL
      A0A7D5Q2L7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15738.2 GenPept UniProtKB/Swiss-Prot:Q15738

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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