NSDHL

Protein identityUniProt · HPA

UniProt accession

Q15738

Gene

NSDHL

Ensembl

ENSG00000147383

Chromosome

X

Canonical length

373 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Endoplasmic reticulum,Lipid droplets

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

373 residues, UniProt reviewed canonical sequence.

>Q15738|NSDHL
     1  MEPAVSEPMR DQVARTHLTE DTPKVNADIE KVNQNQAKRC TVIGGSGFLG QHMVEQLLAR
    61  GYAVNVFDIQ QGFDNPQVRF FLGDLCSRQD LYPALKGVNT VFHCASPPPS SNNKELFYRV
   121  NYIGTKNVIE TCKEAGVQKL ILTSSASVIF EGVDIKNGTE DLPYAMKPID YYTETKILQE
   181  RAVLGANDPE KNFLTTAIRP HGIFGPRDPQ LVPILIEAAR NGKMKFVIGN GKNLVDFTFV
   241  ENVVHGHILA AEQLSRDSTL GGKAFHITND EPIPFWTFLS RILTGLNYEA PKYHIPYWVA
   301  YYLALLLSLL VMVISPVIQL QPTFTPMRVA LAGTFHYYSC ERAKKAMGYQ PLVTMDDAME
   361  RTVQSFRHLR RVK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NSDHL can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

50 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NSDHL.

Disease | AllUniProt

Conditions NSDHL is implicated in, by any mechanism.

• Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) MIM:308050
• CK syndrome (CKS) MIM:300831

Disease | GeneticClinVar

20 pathogenic / likely-pathogenic of 314 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Child syndrome
• CK syndrome
• Thyroid cancer, nonmedullary, 1
• Malignant tumor of urinary bladder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.29

gnomAD pLI

0.96

gnomAD missense Z

0.87

DepMap mean gene effect

0.07

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cholesterol biosynthetic process
• cholesterol biosynthetic process via lathosterol
• cholesterol metabolic process
• hair follicle development
• labyrinthine layer blood vessel development
• smoothened signaling pathway

Molecular functions

• 3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity
• oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
• 3-beta-hydroxysteroid dehydrogenase (NAD+)/C4-decarboxylase activity
• 3-beta-hydroxysteroid dehydrogenase [NAD(P)+]/C4-decarboxylase activity

Cellular components

• endoplasmic reticulum
• endoplasmic reticulum membrane
• lipid droplet

Protein domainsUniProt · Pfam · InterPro

• 3-beta hydroxysteroid dehydrogenase/isomerase
• NAD(P)-binding domain superfamily
• Bifunctional lipid A modification and metabolic enzymes
• 3-beta hydroxysteroid dehydrogenase/isomerase family

KeywordsUniProt

• Acetylation
• Cholesterol biosynthesis
• Cholesterol metabolism
• Endoplasmic reticulum
• Ichthyosis
• Intellectual disability
• Lipid biosynthesis
• Lipid droplet
• Lipid metabolism
• Membrane
• NAD
• Oxidoreductase
• Phosphoprotein
• Steroid biosynthesis
• Steroid metabolism
• Sterol biosynthesis
• Sterol metabolism
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of NSDHL in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• BCAP31
• ESYT1
• RHBDD1