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

    Gene ID: 50814, updated on 7-Jan-2024

    Summary

    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 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NSDHL in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (152831063..152869729)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (151097547..151136220)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Child syndrome
    MedGen: C0265267 OMIM: 308050 GeneReviews: NSDHL-Related Disorders
    Compare labs
    CK syndrome
    MedGen: C3151781 OMIM: 300831 GeneReviews: NSDHL-Related Disorders
    Compare labs

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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

    Preferred Names
    sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
    Names
    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)

    NEW Try the new Transcript table

    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_001129765.2NP_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:39366
      3b-HSD-NSDHL-like_SDR_e; human NSDHL (NAD(P)H steroid dehydrogenase-like protein)-like, extended (e) SDRs
    2. NM_015922.3NP_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:39366
      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_2023_10

    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_011531178.3XP_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:39366
      3b-HSD-NSDHL-like_SDR_e; human NSDHL (NAD(P)H steroid dehydrogenase-like protein)-like, extended (e) SDRs
    2. XM_017029564.2XP_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_054333345.1XP_054189320.1  sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating isoform X2

      UniProtKB/Swiss-Prot
      D3DWT6, O00344, Q15738
      UniProtKB/TrEMBL
      A0A384NPZ7, A0A7D5Q2L7
    2. XM_054333344.1XP_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_054327164.1XP_054183139.1  sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating isoform X2

      UniProtKB/Swiss-Prot
      D3DWT6, O00344, Q15738
      UniProtKB/TrEMBL
      A0A384NPZ7, A0A7D5Q2L7
    2. XM_054327163.1XP_054183138.1  sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating isoform X1

      UniProtKB/TrEMBL
      A0A7D5Q2L7