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Nsdhl NAD(P) dependent steroid dehydrogenase-like [ Mus musculus (house mouse) ]

Gene ID: 18194, updated on 8-Dec-2022

Summary

Official Symbol
Nsdhlprovided by MGI
Official Full Name
NAD(P) dependent steroid dehydrogenase-likeprovided by MGI
Primary source
MGI:MGI:1099438
See related
Ensembl:ENSMUSG00000031349 AllianceGenome:MGI:1099438
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Bpa; Str; H105E3; XAP104
Summary
Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Acts upstream of or within several processes, including cholesterol metabolic process; hair follicle development; and labyrinthine layer blood vessel development. Located in endoplasmic reticulum and lipid droplet. Is expressed in several structures, including extraembryonic component; eye; genitourinary system; integumental system; and nervous system. Used to study Bloch-Sulzberger syndrome and X-linked chondrodysplasia punctata 1. Human ortholog(s) of this gene implicated in CHILD syndrome and CK syndrome. Orthologous to human NSDHL (NAD(P) dependent steroid dehydrogenase-like). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in genital fat pad adult (RPKM 30.5), liver E18 (RPKM 28.4) and 28 other tissues See more
Orthologs
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Genomic context

See Nsdhl in Genome Data Viewer
Location:
X A7.3; X 37.29 cM
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) X NC_000086.8 (71962127..72002134)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (72918521..72958528)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene MAGE family member A9, pseudogene Neighboring gene centrin 2 Neighboring gene zinc finger protein 185 Neighboring gene microRNA 2137 Neighboring gene predicted gene, 52421 Neighboring gene paraneoplastic antigen family 5

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
located_in lipid droplet IDA
Inferred from Direct Assay
more info
PubMed 
located_in lipid droplet ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
Names
NAD(P)-dependent steroid dehydrogenase-like protein
bare patches
striated
NP_035071.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_010941.3NP_035071.3  sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

    See identical proteins and their annotated locations for NP_035071.3

    Status: VALIDATED

    Source sequence(s)
    AK140930, AL671908
    Consensus CDS
    CCDS30190.1
    UniProtKB/Swiss-Prot
    O55109, Q9R1J0
    UniProtKB/TrEMBL
    Q3US15
    Related
    ENSMUSP00000033715.5, ENSMUST00000033715.5
    Conserved Domains (2) summary
    cd09813
    Location:29355
    3b-HSD-NSDHL-like_SDR_e; human NSDHL (NAD(P)H steroid dehydrogenase-like protein)-like, extended (e) SDRs
    pfam01073
    Location:31281
    3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    71962127..72002134
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)