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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

HCOP human homology predictions: NSDHL
Protein SuperFamily: bifunctional 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase
Gene Tree: Nsdhl

Human
homologs
NSDHL, NAD(P) dependent steroid dehydrogenase-like
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 50814
neXtProt AC: NX_Q15738

Human Synonyms: H105E3, SDR31E1, XAP104

Human Chr (Location): Xq28; chrX:152830967-152869363 (+)  GRCh38.p2

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 in Mice Using Nsdhl (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Nsdhl interacts with 144 markers (Mir1a-1, Mir1a-2, Mir9-1, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (9 records)
Data Summary: Results (117)    Tissues (117)    Images (13)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
Northern blot 20
RT-PCR 3
cDNA source data(18)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase nsdhl ; ZFIN nsdhl    NEW 
Molecular
reagents
All nucleic(25) Genomic(5) cDNA(18) Primer pair(2)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000017843 (Evidence)
Ensembl Gene Model ENSMUSG00000031349 (Evidence)
Entrez Gene 18194 (Evidence)
DFCI TC1575239
DoTS DT.40158368, DT.40168429, DT.485623, DT.492820, DT.94343844
EC 1.1.1.170
Consensus CDS Project CCDS30190.1
International Mouse Phenotyping Consortium Status Nsdhl
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:220990 Cunningham D, et al., Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development. Hum Mol Genet. 2015 May 15;24(10):2808-25
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
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory