Nsdhl
entrez
18194
canonical
uniprot
Q9R1J0
canonical
ensembl
ENSMUSG00000031349
resolver
ensp
ENSMUSP00000033715
resolver
enst
ENSMUST00000033715
resolver
genesymbol
Nsdhl
resolver
uniprot
O55109
resolver
uniprot
Q3US15
resolver
uniprot_entry
NSDHL_MOUSE
resolver
uniprot_entry
Q3US15_MOUSE
resolver
uniprot_sec
O55109
resolver
amino_acid_sequence
MEQAVHGESKRGQVTGTHLTNDISKAKKCTVIGGSGFLGQHMVEQLLERGYTVNVFDIHQGFDNPRVQFFIGDLCNQQDLYPALKGVSTVFHCASPPPYSNNKELFYRVNFIGTKTVIETCREAGVQKLILTSSASVVFEGVDIKNGTEDLPYAMKPIDYYTETKILQERAVLDANDPKKNFLTAAIRPHGIFGPRDPQLVPILIDAARKGKMKFMIGNGENLVDFTFVENVVHGHILAAEHLSQDAALGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWMAYYLAFLLSLLVMVVSPLIQIQPTFTPIRVALAGTFHYYSCEKAKKLFGYRPLVTMDEAVERTVQSFHHLRKDK
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Nsdhl are the cause of male-lethal mutations bare patches (Bpa) and striated (Str) phenotypes. Heterozygous Bpa females are dwarfed and demonstrate abnormal deposits of calcium in tail vertebrae. They also develop a hyperkeratotic skin eruption shortly after birth that resolves, leaving 'bare patches' arranged in a horizontal, striped pattern. The Str females are indistinguishable from normal littermates until postnatal day 12-14 when they develop striations in their coat. {ECO:0000269|PubMed:10369263, ECO:0000269|PubMed:14567972}.
uniprot
proteins
ec_number
1.1.1.170
uniprot
proteins
function
FUNCTION: Catalyzes the NAD(P)(+)-dependent oxidative decarboxylation of the C4 methyl groups of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis (PubMed:10369263, PubMed:14567972). Plays a role in the regulation of the endocytic trafficking of EGFR (PubMed:23125191). {ECO:0000269|PubMed:10369263, ECO:0000269|PubMed:14567972, ECO:0000269|PubMed:23125191}.
uniprot
proteins
mass_dalton
40686
uniprot
proteins
pathway_participation
PATHWAY: Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 4/6.
uniprot
proteins
protein_family
3-beta-HSD family
uniprot
proteins
pubmed
10369263
uniprot
proteins
pubmed
10854409
uniprot
proteins
pubmed
14506130
uniprot
proteins
pubmed
14567972
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
23125191
uniprot
proteins
sequence_length
362
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:14506130}; Single-pass membrane protein {ECO:0000255}. Lipid droplet {ECO:0000269|PubMed:14506130}. Note=Trafficking through the Golgi is necessary for ER membrane localization. {ECO:0000269|PubMed:14506130}.
uniprot
proteins
transmembrane_region
TRANSMEM 287..307; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins