InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NSDHL

Summary

InnateDB Protein

IDBP-89292.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NSDHL

Protein Name

NAD(P) dependent steroid dehydrogenase-like

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000359297

InnateDB Gene

IDBG-89290 (NSDHL)

Protein Structure

UniProt Annotation

Function

Involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis. {ECO:0000269PubMed:14506130}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:14506130}; Single-pass membrane protein {ECO:0000269PubMed:14506130}. Lipid droplet {ECO:0000269PubMed:14506130}. Note=Trafficking through the Golgi is necessary for ER membrane localization.

Disease Associations

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]: An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis. {ECO:0000269PubMed:10710235, ECO:0000269PubMed:11907515}. Note=The disease is caused by mutations affecting the gene represented in this entry.CK syndrome (CKS) [MIM:300831]: A disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. {ECO:0000269PubMed:21129721}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Brain, heart, liver, lung, kidney, skin and placenta.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
GO:0047012	sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity
GO:0050662	coenzyme binding

Biological Process

GO:0001942	hair follicle development
GO:0006694	steroid biosynthetic process
GO:0006695	cholesterol biosynthetic process
GO:0007224	smoothened signaling pathway
GO:0008203	cholesterol metabolic process
GO:0009058	biosynthetic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process
GO:0060716	labyrinthine layer blood vessel development

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0005811	lipid particle
GO:0016021	integral component of membrane
GO:0043231	intracellular membrane-bounded organelle

Protein Structure and Domains

PDB ID

InterPro

IPR001509 NAD-dependent epimerase/dehydratase, N-terminal domain
IPR002225 3-beta hydroxysteroid dehydrogenase/isomerase
IPR003869 Polysaccharide biosynthesis protein, CapD-like domain
IPR005913 dTDP-4-dehydrorhamnose reductase
IPR008030 NmrA-like domain
IPR013120 Male sterility, NAD-binding

PFAM

PF01370
PF01073
PF02719
PF04321
PF05368
PF07993

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q15738

PhosphoSite