NSDHL Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | NSDHL |
| Official Name | NAD(P) dependent steroid dehydrogenase-like [Source:HGNC Symbol;Acc:HGNC:13398] |
| Ensembl ID | ENSG00000147383 |
| Bio databases IDs | |
| Aliases | NAD(P) dependent steroid dehydrogenase-like, short chain dehydrogenase/reductase family 31E, member 1 |
| Synonyms | Av017044, Bpa, H105E3, NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL, NAD(P) dependent 3-β-hydroxysteroid dehydrogenase NSDHL, NAD(P) dependent steroid dehydrogenase-like, Nadp-dependent steroid dehydrogenase-like, SDR31E1, Str, XAP104 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NSDHL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- Male sterility protein
- 3-beta hydroxysteroid dehydrogenase/isomerase family
- 3beta-hydroxy-delta5-steroid dehydrogenase
- NAD dependent epimerase/dehydratase family
- enzyme
- protein binding
- C-3 sterol dehydrogenase (C-4 sterol decarboxylase)
- 3beta-hydroxy-4alpha-methylcholestenecarboxylate 3-dehydrogenase (decarboxylating)
- GDP-mannose 4,6 dehydratase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- CHILD syndrome
- CK syndrome
- experimental autoimmune encephalomyelitis
- obesity
- pancreatic ductal adenocarcinoma
- pancreatic epithelial cancer
- ductal pancreatic cancer
regulates
- cholesterol
role in cell
- growth
- biosynthesis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- endoplasmic reticulum mitochondria contact site
- Nucleus
- Endoplasmic Reticulum
- lipid droplets
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NSDHL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- hair follicle development
- labyrinthine layer blood vessel development
- cholesterol metabolic process
- cholesterol biosynthetic process
- smoothened signaling pathway
Cellular Component
Where in the cell the gene product is active
- lipid particle
- endoplasmic reticulum membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- 3-beta-hydroxy-delta5-steroid dehydrogenase activity
- C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity
- protein binding
- oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
- sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity