NSDHL
entrez
50814
canonical
uniprot
Q15738
canonical
ensembl
ENSG00000147383
resolver
ensembl
ENSG00000292192
resolver
ensp
ENSP00000359297
resolver
ensp
ENSP00000391854
resolver
ensp
ENSP00000517980
resolver
ensp
ENSP00000517982
resolver
ensp
ENSP00000551936
resolver
ensp
ENSP00000551939
resolver
ensp
ENSP00000551940
resolver
ensp
ENSP00000551941
resolver
ensp
ENSP00000551942
resolver
ensp
ENSP00000551943
resolver
ensp
ENSP00000551944
resolver
ensp
ENSP00000551945
resolver
ensp
ENSP00000585739
resolver
ensp
ENSP00000585740
resolver
ensp
ENSP00000585743
resolver
ensp
ENSP00000639485
resolver
ensp
ENSP00000639487
resolver
ensp
ENSP00000639488
resolver
ensp
ENSP00000639489
resolver
enst
ENST00000370274
resolver
enst
ENST00000440023
resolver
enst
ENST00000709998
resolver
enst
ENST00000710000
resolver
enst
ENST00000881877
resolver
enst
ENST00000881880
resolver
enst
ENST00000881881
resolver
enst
ENST00000881882
resolver
enst
ENST00000881883
resolver
enst
ENST00000881884
resolver
enst
ENST00000881885
resolver
enst
ENST00000881886
resolver
enst
ENST00000915680
resolver
enst
ENST00000915681
resolver
enst
ENST00000915684
resolver
enst
ENST00000969426
resolver
enst
ENST00000969428
resolver
enst
ENST00000969429
resolver
enst
ENST00000969430
resolver
genesymbol
NSDHL
resolver
genesymbol_syn
H105E3
resolver
hgnc
HGNC:13398
resolver
uniprot
A0A384NPZ7
resolver
uniprot
D3DWT6
resolver
uniprot
O00344
resolver
uniprot_entry
A0A384NPZ7_HUMAN
resolver
uniprot_entry
NSDHL_HUMAN
resolver
uniprot_sec
D3DWT6
resolver
uniprot_sec
O00344
resolver
amino_acid_sequence
MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLARGYAVNVFDIQQGFDNPQVRFFLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRVNYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTEDLPYAMKPIDYYTETKILQERAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKMKFVIGNGKNLVDFTFVENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWVAYYLALLLSLLVMVISPVIQLQPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAMERTVQSFRHLRRVK
uniprot
proteins
disease_involvement
DISEASE: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]: An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis. {ECO:0000269|PubMed:10710235, ECO:0000269|PubMed:11907515}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: CK syndrome (CKS) [MIM:300831]: An X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. {ECO:0000269|PubMed:21129721}. Note=The disease is caused by variants affecting the gene represented in this entry.
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 (By similarity). Also plays a role in the regulation of the endocytic trafficking of EGFR (By similarity). {ECO:0000250|UniProtKB:Q9R1J0}.
uniprot
proteins
mass_dalton
41900
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
10710235
uniprot
proteins
pubmed
10854409
uniprot
proteins
pubmed
11907515
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
21129721
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
32140747
uniprot
proteins
pubmed
8828036
uniprot
proteins
sequence_length
373
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:21129721}; Single-pass membrane protein {ECO:0000255}. Lipid droplet {ECO:0000250|UniProtKB:Q9R1J0}. Note=Trafficking through the Golgi is necessary for ER membrane localization. {ECO:0000250|UniProtKB:Q9R1J0}.
uniprot
proteins
transmembrane_region
TRANSMEM 298..318; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins