Scd1
entrez
20249
canonical
uniprot
P13516
canonical
ensembl
ENSMUSG00000037071
resolver
ensp
ENSMUSP00000036936
resolver
enst
ENSMUST00000041331
resolver
genesymbol
Scd1
resolver
uniprot
Q547C4
resolver
uniprot
Q922I6
resolver
uniprot_entry
ACOD1_MOUSE
resolver
uniprot_entry
Q547C4_MOUSE
resolver
uniprot_sec
Q922I6
resolver
amino_acid_sequence
MPAHMLQEISSSYTTTTTITAPPSGNEREKVKTVPLHLEEDIRPEMKEDIHDPTYQDEEGPPPKLEYVWRNIILMVLLHLGGLYGIILVPSCKLYTCLFGIFYYMTSALGITAGAHRLWSHRTYKARLPLRIFLIIANTMAFQNDVYEWARDHRAHHKFSETHADPHNSRRGFFFSHVGWLLVRKHPAVKEKGGKLDMSDLKAEKLVMFQRRYYKPGLLLMCFILPTLVPWYCWGETFVNSLFVSTFLRYTLVLNATWLVNSAAHLYGYRPYDKNIQSRENILVSLGAVGEGFHNYHHTFPFDYSASEYRWHINFTTFFIDCMAALGLAYDRKKVSKATVLARIKRTGDGSHKSS
uniprot
proteins
disease_involvement
DISEASE: Note=Defects is Scd1 are the cause of asebia (ab) (PubMed:10545940, PubMed:10854228, PubMed:10899171, PubMed:15278437, PubMed:17738154). The trait is due to spontaneous autosomal recessive mutations that give rise to deletions or point mutations in Scd1. The ab trait has complete penetrance (PubMed:17738154). Ab mice are characterized by reduced body weight, extreme sebaceous gland hypoplasia leading to nearly complete absence of sebaceous glands, and thickened, scaly skin with hyperkeratosis and alopecia (PubMed:10854228, PubMed:15278437, PubMed:17738154). The hair follicles are abnormally long and extend at a sharp angle into the subcutis, probably due to abnormal persistence of inner root sheath. Frequently the hair shaft ruptures through the base of the hair follicle, giving rise to inflammation that results in scarring alopecia (PubMed:10854228, PubMed:15278437). Besides, ab mice display increased transepithelial water loss (PubMed:10854228). Ab mice present a narrow eye fissure and their eyes are nearly closed (PubMed:10854228, PubMed:15278437). Older mice develop blindness (PubMed:17738154). Scd1 activity is almost absent in liver, and is not compensated by expression of another family member (PubMed:10899171). Liver levels of total cholesterol esters are decreased by 87%, while plasma cholesterol levels are increased by 35% (PubMed:10899171). Likewise, skin sterol esters and diol diesters are strongly reduced (PubMed:10854228). Liver triglyceride levels are decreased by 62%, while plasma triglyceride levels are decreased by 67% (PubMed:10899171). The fatty acid composition of liver triglycerides is altered, with a decrease of about 85% in palmitoleate (C16:1) and oleate (C18:1) levels (PubMed:10899171). These defects cannot be compensated by a diet enriched in unsaturated fatty acids (PubMed:10899171, PubMed:11441127). {ECO:0000269|PubMed:10545940, ECO:0000269|PubMed:10854228, ECO:0000269|PubMed:10899171, ECO:0000269|PubMed:11441127, ECO:0000269|PubMed:11533264, ECO:0000269|PubMed:15278437, ECO:0000269|PubMed:17738154}.
uniprot
proteins
ec_number
1.14.19.1
uniprot
proteins
function
FUNCTION: Stearoyl-CoA desaturase that utilizes O(2) and electrons from reduced cytochrome b5 to introduce the first double bond into saturated fatty acyl-CoA substrates. Catalyzes the insertion of a cis double bond at the Delta-9 position into fatty acyl-CoA substrates including palmitoyl-CoA and stearoyl-CoA (PubMed:11500518, PubMed:11533264, PubMed:16275639, PubMed:16443825, PubMed:26098370). Gives rise to a mixture of 16:1 and 18:1 unsaturated fatty acids (PubMed:11500518, PubMed:11533264, PubMed:16443825, PubMed:26098370). Plays an important role in lipid biosynthesis (PubMed:10899171, PubMed:11441127, PubMed:11500518, PubMed:11533264, PubMed:12177411, PubMed:17127673, PubMed:26098370). Plays an important role in regulating the expression of genes that are involved in lipogenesis and in regulating mitochondrial fatty acid oxidation (PubMed:12177411, PubMed:17127673, PubMed:24295027, PubMed:24356954). Plays an important role in body energy homeostasis (PubMed:15210843, PubMed:17127673, PubMed:24295027, PubMed:24356954). Contributes to the biosynthesis of membrane phospholipids, cholesterol esters and triglycerides (PubMed:10899171, PubMed:11441127, PubMed:11500518, PubMed:11533264, PubMed:12177411, PubMed:15210843, PubMed:26098370). Required for normal development of sebaceous glands (PubMed:11533264, PubMed:17738154). Required for the biosynthesis of normal levels of Delta-9 unsaturated fatty acids and 1-alkyl-2,3-diacylglycerol in the Harderian gland (PubMed:11500518). Required for normal production of meibum, an oily material that prevents drying of the cornea (PubMed:11533264). {ECO:0000269|PubMed:10899171, ECO:0000269|PubMed:11441127, ECO:0000269|PubMed:11500518, ECO:0000269|PubMed:11533264, ECO:0000269|PubMed:12177411, ECO:0000269|PubMed:15210843, ECO:0000269|PubMed:16275639, ECO:0000269|PubMed:16443825, ECO:0000269|PubMed:17127673, ECO:0000269|PubMed:26098370, ECO:0000305|PubMed:24295027, ECO:0000305|PubMed:24356954}.
uniprot
proteins
mass_dalton
41046
uniprot
proteins
protein_family
Fatty acid desaturase type 1 family
uniprot
proteins
pubmed
10545940
uniprot
proteins
pubmed
10854228
uniprot
proteins
pubmed
10899171
uniprot
proteins
pubmed
11161812
uniprot
proteins
pubmed
11441127
uniprot
proteins
pubmed
11500518
uniprot
proteins
pubmed
11533264
uniprot
proteins
pubmed
12177411
uniprot
proteins
pubmed
12815040
uniprot
proteins
pubmed
15210843
uniprot
proteins
pubmed
15278437
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16275639
uniprot
proteins
pubmed
16443825
uniprot
proteins
pubmed
17127673
uniprot
proteins
pubmed
17738154
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
24295027
uniprot
proteins
pubmed
24356954
uniprot
proteins
pubmed
26098370
uniprot
proteins
pubmed
2903162
uniprot
proteins
sequence_length
355
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:16275639, ECO:0000305|PubMed:16443825}; Multi-pass membrane protein {ECO:0000269|PubMed:16275639}. Microsome membrane {ECO:0000269|PubMed:10899171, ECO:0000269|PubMed:11500518, ECO:0000269|PubMed:11533264, ECO:0000269|PubMed:16443825}.
uniprot
proteins
transmembrane_region
TRANSMEM 69..89; /note="Helical"; /evidence="ECO:0000269|PubMed:26098370"; TRANSMEM 94..114; /note="Helical"; /evidence="ECO:0000269|PubMed:26098370"; TRANSMEM 214..233; /note="Helical"; /evidence="ECO:0000269|PubMed:26098370"; TRANSMEM 238..259; /note="Helical"; /evidence="ECO:0000269|PubMed:26098370
uniprot
proteins