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

Gene ID: 50814, updated on 3-Nov-2024

Summary

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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
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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 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. NSDHL promotes triple-negative breast cancer metastasis through the TGFβ signaling pathway and cholesterol biosynthesis. Chen M, et al. Breast Cancer Res Treat, 2021 Jun. PMID 33864166
  2. Identification of NSDHL mutations associated with CHILD syndrome in oral verruciform xanthoma. Getz GI, et al. Oral Surg Oral Med Oral Pathol Oral Radiol, 2019 Jul. PMID 31078502
  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. 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

See all (108) 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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
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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 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 
enables sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity IEA
Inferred from Electronic Annotation
more info
  
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
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

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

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

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

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

Gene LinkOut

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