SC5D
entrez
6309
canonical
uniprot
O75845
canonical
ensembl
ENSG00000109929
resolver
ensp
ENSP00000264027
resolver
ensp
ENSP00000376539
resolver
ensp
ENSP00000527634
resolver
ensp
ENSP00000527635
resolver
ensp
ENSP00000527636
resolver
ensp
ENSP00000582859
resolver
ensp
ENSP00000582860
resolver
ensp
ENSP00000582861
resolver
ensp
ENSP00000582862
resolver
ensp
ENSP00000582863
resolver
ensp
ENSP00000636340
resolver
enst
ENST00000264027
resolver
enst
ENST00000392789
resolver
enst
ENST00000857575
resolver
enst
ENST00000857576
resolver
enst
ENST00000857577
resolver
enst
ENST00000912800
resolver
enst
ENST00000912801
resolver
enst
ENST00000912802
resolver
enst
ENST00000912803
resolver
enst
ENST00000912804
resolver
enst
ENST00000966281
resolver
genesymbol
SC5D
resolver
genesymbol_syn
SC5DL
resolver
hgnc
HGNC:10547
resolver
uniprot
O00119
resolver
uniprot
Q6GTM5
resolver
uniprot
Q9UK15
resolver
uniprot_entry
SC5D_HUMAN
resolver
uniprot_sec
O00119
resolver
uniprot_sec
Q6GTM5
resolver
uniprot_sec
Q9UK15
resolver
amino_acid_sequence
MDLVLRVADYYFFTPYVYPATWPEDDIFRQAISLLIVTNVGAYILYFFCATLSYYFVFDHALMKHPQFLKNQVRREIKFTVQALPWISILTVALFLLEIRGYSKLHDDLGEFPYGLFELVVSIISFLFFTDMFIYWIHRGLHHRLVYKRLHKPHHIWKIPTPFASHAFHPIDGFLQSLPYHIYPFIFPLHKVVYLSLYILVNIWTISIHDGDFRVPQILQPFINGSAHHTDHHMFFDYNYGQYFTLWDRIGGSFKNPSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTKTE
uniprot
proteins
disease_involvement
DISEASE: Lathosterolosis (LATHOS) [MIM:607330]: An autosomal recessive disorder characterized by multiple congenital anomalies affecting axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. {ECO:0000269|PubMed:12189593, ECO:0000269|PubMed:12812989}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.19.20
uniprot
proteins
function
FUNCTION: Catalyzes the penultimate step of the biosynthesis of cholesterol, the dehydrogenation of lathosterol into 7-dehydrocholesterol (7-DHC). Cholesterol is the major sterol component in mammalian membranes and a precursor for bile acid and steroid hormone synthesis (PubMed:10786622, PubMed:38297129). In addition to its essential role in cholesterol biosynthesis, it also indirectly regulates ferroptosis through the production of 7-DHC. By diverting the spread of damage caused by peroxyl radicals from the phospholipid components to its sterol nucleus, 7-DHC prevents this form of cell death (PubMed:38297129, PubMed:38297130). {ECO:0000269|PubMed:10786622, ECO:0000269|PubMed:38297129, ECO:0000269|PubMed:38297130}.
uniprot
proteins
mass_dalton
35301
uniprot
proteins
pathway_participation
PATHWAY: Steroid biosynthesis; cholesterol biosynthesis. {ECO:0000269|PubMed:38297129}.
uniprot
proteins
protein_family
Sterol desaturase family
uniprot
proteins
pubmed
10344195
uniprot
proteins
pubmed
10786622
uniprot
proteins
pubmed
12189593
uniprot
proteins
pubmed
12812989
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
38297129
uniprot
proteins
pubmed
38297130
uniprot
proteins
pubmed
8976377
uniprot
proteins
sequence_length
299
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10786622}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 32..52; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 79..99; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 117..137; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 186..206; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins