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Nsdhl
Gene Detail
 Symbol
Name
ID
Nsdhl
NAD(P) dependent steroid dehydrogenase-like
MGI:1099438
Synonyms bare patches, Bpa, H105E3, Str, striated, XAP104
Feature Type protein coding gene
Genetic Map
Chromosome X
37.29 cM
Detailed Genetic Map ± 1 cM


Mapping data(17)
Sequence Map
ChrX:72918557-72958514 bp, + strand
From VEGA annotation of GRCm38

  39958 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:5951  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: bifunctional 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase
Gene Tree: Nsdhl

Human
homologs
Human Homolog NSDHL, NAD(P) dependent steroid dehydrogenase-like
NCBI Gene ID 50814
neXtProt AC  NX_Q15738
Human Synonyms  H105E3, SDR31E1, XAP104
Human Chr (Location)  Xq28; chrX:152830967-152869363 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human NSDHL
Mutations,
alleles, and
phenotypes
All mutations/alleles(16) : Chemically induced (ENU)(2) Gene trapped(4) Radiation induced(5) Spontaneous(3) Targeted(2)
Incidental mutations (data from APF )
 
Heterozygous females exhibit a striped coat or skin hyperkeratotic lesions leaving bare patches on the coat, with some mutations also resulting in skeletal dysplasia and eye defects. Hemizygous male and homozygous female mice die before birth, presumably due to placental defects.
 
Human Diseases Modeled Using Mouse Nsdhl (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Nsdhl interacts with 145 markers (Mir1a-1, Mir1a-2, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (21 annotations)
Process cholesterol biosynthetic process, cholesterol metabolic process, ...
Component endoplasmic reticulum, integral component of membrane, ...
Function 3-beta-hydroxy-delta5-steroid dehydrogenase activity, oxidoreductase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (117)    Tissues (117)    Images (13)
Theiler Stages: 15, 17, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
RNA in situ 94
Northern blot 20
RT-PCR 3
cDNA source data(18)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(25) Genomic(5) cDNA(18) Primer pair(2)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000017843 (Evidence)
Ensembl Gene ModelENSMUSG00000031349 (Evidence)
Entrez Gene18194 (Evidence)
DFCITC1575239
DoTSDT.40158368, DT.40168429, DT.485623, DT.492820, DT.94343844
EC1.1.1.170
Consensus CDS ProjectCCDS30190.1
International Mouse Knockout Project StatusNsdhl
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017843 VEGA Gene Model | MGI Sequence Detail 39958 C57BL/6J ±  kb
transcript OTTMUST00000043187 VEGA | MGI Sequence Detail 2168 Not Applicable 
polypeptide OTTMUSP00000019425 VEGA | MGI Sequence Detail 362 Not Applicable 

For the selected sequences
All sequences(43) RefSeq(2) UniProt(5)
Polymorphisms SNPs within 2kb(208 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002225 3-beta hydroxysteroid dehydrogenase/isomerase
InterPro IPR016040 NAD(P)-binding domain
Protein Ontology PR:000011442 sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
References (Earliest) J:272 Lyon MF, Attempts to test the inactive-X theory of dosage compensation in mammals. Genet Res. 1963;4:93-103
(Latest) J:207290 Bautz DJ, et al., Identification of a novel polymorphism in X-linked sterol-4-alpha-carboxylate 3-dehydrogenase (Nsdhl) associated with reduced high-density lipoprotein cholesterol levels in I/LnJ mice. G3 (Bethesda). 2013 Oct;3(10):1819-25
All references(67)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-14635, MGD-MRK-1611, MGI:2147912, MGI:88187, MGI:98437

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/26/2014
MGI 5.19
The Jackson Laboratory