MSMO1
entrez
6307
canonical
uniprot
Q15800
canonical
ensembl
ENSG00000052802
resolver
ensp
ENSP00000261507
resolver
ensp
ENSP00000377361
resolver
ensp
ENSP00000633562
resolver
genesymbol
MSMO1
resolver
genesymbol_syn
DESP4
resolver
genesymbol_syn
ERG25
resolver
genesymbol_syn
SC4MOL
resolver
hgnc
HGNC:10545
resolver
uniprot
A8K8Q3
resolver
uniprot
A8MYF6
resolver
uniprot
D3DP32
resolver
uniprot
Q32Q24
resolver
uniprot_entry
MSMO1_HUMAN
resolver
uniprot_sec
A8K8Q3
resolver
uniprot_sec
A8MYF6
resolver
uniprot_sec
D3DP32
resolver
uniprot_sec
Q32Q24
resolver
amino_acid_sequence
MATNESVSIFSSASLAVEYVDSLLPENPLQEPFKNAWNYMLNNYTKFQIATWGSLIVHEALYFLFCLPGFLFQFIPYMKKYKIQKDKPETWENQWKCFKVLLFNHFCIQLPLICGTYYFTEYFNIPYDWERMPRWYFLLARCFGCAVIEDTWHYFLHRLLHHKRIYKYIHKVHHEFQAPFGMEAEYAHPLETLILGTGFFIGIVLLCDHVILLWAWVTIRLLETIDVHSGYDIPLNPLNLIPFYAGSRHHDFHHMNFIGNYASTFTWWDRIFGTDSQYNAYNEKRKKFEKKTE
uniprot
proteins
disease_involvement
DISEASE: Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) [MIM:616834]: An autosomal recessive inborn error of cholesterol metabolism characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected individuals. Patients manifest psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay. {ECO:0000269|PubMed:21285510, ECO:0000269|PubMed:24144731}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.18.9
uniprot
proteins
function
FUNCTION: Catalyzes the three-step monooxygenation required for the demethylation of 4,4-dimethyl and 4alpha-methylsterols, which can be subsequently metabolized to cholesterol (PubMed:21285510, PubMed:23583456, PubMed:26114596, PubMed:28673550, PubMed:36958722). Also involved in drug metabolism, as it can metabolize eldecalcitol (ED-71 or 1alpha,25-dihydroxy-2beta-(3-hydroxypropoxy)-cholecalciferol), a second-generation vitamin D analog, into 1alpha,2beta,25-trihydroxy vitamin D3; this reaction occurs via enzymatic hydroxylation and spontaneous O-dehydroxypropylation (PubMed:26038696). {ECO:0000269|PubMed:21285510, ECO:0000269|PubMed:26038696, ECO:0000269|PubMed:28673550, ECO:0000269|PubMed:36958722, ECO:0000305|PubMed:23583456, ECO:0000305|PubMed:26114596}.
uniprot
proteins
mass_dalton
35216
uniprot
proteins
pathway_participation
PATHWAY: Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 3/6. {ECO:0000305|PubMed:23583456, ECO:0000305|PubMed:26114596}.; PATHWAY: Steroid biosynthesis; cholesterol biosynthesis. {ECO:0000305|PubMed:21285510, ECO:0000305|PubMed:23583456, ECO:0000305|PubMed:26114596, ECO:0000305|PubMed:28673550}.
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by MARCHF6, leading to proteasomal degradation. {ECO:0000269|PubMed:36958722}.
uniprot
proteins
protein_family
Sterol desaturase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21285510
uniprot
proteins
pubmed
23583456
uniprot
proteins
pubmed
24144731
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26038696
uniprot
proteins
pubmed
26114596
uniprot
proteins
pubmed
28673550
uniprot
proteins
pubmed
36958722
uniprot
proteins
pubmed
8663358
uniprot
proteins
sequence_length
293
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 55..75; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 100..120; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 199..219; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins