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

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: mouse all
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Genomic context

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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80836 (e-PCR)
- UniSTS:91692

DXS8061 (e-PCR), detects polymorphism
- UniSTS:50767

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-beta-hydroxy-delta5-steroid dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables 3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity	IEA Inferred from Electronic Annotation more info
enables 4alpha-carboxy-4beta-methyl-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-oxidoreductase (decarboxylating) activity	IEA Inferred from Electronic Annotation more info
enables 4alpha-carboxy-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-dehydrogenase (decarboxylating) 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

EC 1.1.1.170

NP_057006.1

EC 1.1.1.170

XP_011529480.1

EC 1.1.1.170

XP_016885053.1

EC 1.1.1.170

XP_054183138.1

EC 1.1.1.170

XP_054183139.1

EC 1.1.1.170

XP_054189319.1

EC 1.1.1.170

XP_054189320.1

EC 1.1.1.170

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

NG_009163.2 RefSeqGene

Range

5097..43763

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

152831063..152869729

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A7D5Q2L7

Reference GRCh38.p14 PATCHES

Genomic

NW_025791818.1 Reference GRCh38.p14 PATCHES

Range

446253..484919

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

D3DWT6, O00344, Q15738

UniProtKB/TrEMBL

A0A384NPZ7
XM_054333344.1 → XP_054189319.1 sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

151097547..151136220

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

D3DWT6, O00344, Q15738

UniProtKB/TrEMBL

A0A384NPZ7
XM_054327163.1 → XP_054183138.1 sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating isoform X1