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    NSDHL NAD(P) dependent steroid dehydrogenase-like [ Homo sapiens (human) ]

    Gene ID: 50814, updated on 15-Jul-2015
    Official Symbol
    NSDHLprovided by HGNC
    Official Full Name
    NAD(P) dependent steroid dehydrogenase-likeprovided by HGNC
    Primary source
    HGNC:HGNC:13398
    See related
    Ensembl:ENSG00000147383; HPRD:02229; MIM:300275; Vega:OTTHUMG00000024185
    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]
    Orthologs
    See NSDHL in Epigenomics, MapViewer
    Location:
    Xq28
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (152830967..152869363)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (151999511..152037907)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene melanoma antigen family A4 pseudogene Neighboring gene centrin, EF-hand protein, 2 Neighboring gene zinc finger protein 185 (LIM domain) Neighboring gene uncharacterized LOC105373372 Neighboring gene paraneoplastic Ma antigen family member 5

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Child syndrome
    MedGen: C0265267 OMIM: 308050 GeneReviews: NSDHL-Related Disorders
    Compare labs
    NSDHL-Related Disorders
    MedGen: C3151781 OMIM: 300831 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2013-08-01)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2013-08-01)

    ClinGen Genome Curation Page
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3-beta-hydroxy-delta5-steroid dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cholesterol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    hair follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    labyrinthine layer blood vessel development IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    lipid particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
    Names
    protein H105e3
    short chain dehydrogenase/reductase family 31E, member 1
    NP_001123237.1
    NP_057006.1

    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_009163.1 RefSeqGene

      Range
      5001..43397
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001129765.1NP_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
      Q15738
      Related
      ENSP00000391854, ENST00000440023
      Conserved Domains (2) summary
      cd09813
      Location:39366
      3b-HSD-NSDHL-like_SDR_e; human NSDHL (NAD(P)H steroid dehydrogenase-like protein)-like, extended (e) SDRs
      COG0451
      Location:38371
      WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]
    2. NM_015922.2NP_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
      Consensus CDS
      CCDS14717.1
      UniProtKB/Swiss-Prot
      Q15738
      Related
      ENSP00000359297, OTTHUMP00000025902, ENST00000370274, OTTHUMT00000060927
      Conserved Domains (2) summary
      cd09813
      Location:39366
      3b-HSD-NSDHL-like_SDR_e; human NSDHL (NAD(P)H steroid dehydrogenase-like protein)-like, extended (e) SDRs
      COG0451
      Location:38371
      WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

      Range
      152830967..152869363
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531178.1XP_011529480.1  

      See identical proteins and their annotated locations for XP_011529480.1

      UniProtKB/Swiss-Prot
      Q15738
      Conserved Domains (2) summary
      cd09813
      Location:39366
      3b-HSD-NSDHL-like_SDR_e; human NSDHL (NAD(P)H steroid dehydrogenase-like protein)-like, extended (e) SDRs
      COG0451
      Location:38371
      WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      151874102..151912500
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)