Gene

nsdhl

ID
ZDB-GENE-050417-163
Name
NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL
Symbol
nsdhl Nomenclature History
Previous Names
  • zgc:112474 (1)
Type
protein_coding_gene
Location
Chr: 14 Mapping Details/Browsers
Description
Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Acts upstream of or within response to yeast. Predicted to be located in endoplasmic reticulum membrane and lipid droplet. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in CHILD syndrome and CK syndrome. Orthologous to human NSDHL (NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
5 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Weger et al., 2020
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa35670Allele with one point mutationUnknownPremature StopENU
sa35671Allele with one point mutationUnknownSplice SiteENU
1 - 2 of 2
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
MO1-nsdhlN/AWeger et al., 2020
1 - 1 of 1
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Human Disease
Associated With nsdhl Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
CHILD syndrome Alliance CHILD syndrome 308050
CK syndrome Alliance CK syndrome 300831
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Associated With nsdhl Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR002225 3-beta hydroxysteroid dehydrogenase/isomerase
Family IPR050177 Bifunctional lipid A modification and metabolic enzymes
Homologous_superfamily IPR036291 NAD(P)-binding domain superfamily
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Domain Details Per Protein
Protein Additional Resources Length 3-beta hydroxysteroid dehydrogenase/isomerase Bifunctional lipid A modification and metabolic enzymes NAD(P)-binding domain superfamily
UniProtKB:Q566U2 InterPro 345
1 - 1 of 1
Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 14
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA nsdhl-201 (1) Ensembl 812 nt
mRNA nsdhl-202 (1) Ensembl 755 nt
mRNA nsdhl-203 (1) Ensembl 1,460 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-169H1ZFIN Curated Data
EncodesESTIMAGE:7162719Thisse et al., 2004
EncodescDNAMGC:112474ZFIN Curated Data
EncodescDNAMGC:191561ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanNSDHLX
Conserved genome location (synteny) (1)
Amino acid sequence comparison (1)
MouseNsdhlX
Amino acid sequence comparison (1)
Conserved genome location (synteny) (1)
Citations
1 - 10 of 10
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