SCD5
entrez
79966
canonical
uniprot
Q86SK9
canonical
ensembl
ENSG00000145284
resolver
ensp
ENSP00000273908
resolver
ensp
ENSP00000316329
resolver
genesymbol
SCD5
resolver
genesymbol_syn
ACOD4
resolver
genesymbol_syn
SCD2
resolver
genesymbol_syn
SCD4
resolver
hgnc
HGNC:21088
resolver
uniprot
B2RPG0
resolver
uniprot
Q4W5Q5
resolver
uniprot
Q86UC8
resolver
uniprot
Q8NDS0
resolver
uniprot
Q9H7D1
resolver
uniprot_entry
Q86UC8_HUMAN
resolver
uniprot_entry
SCD5_HUMAN
resolver
uniprot_sec
B2RPG0
resolver
uniprot_sec
Q4W5Q5
resolver
uniprot_sec
Q8NDS0
resolver
uniprot_sec
Q9H7D1
resolver
amino_acid_sequence
MPGPATDAGKIPFCDAKEEIRAGLESSEGGGGPERPGARGQRQNIVWRNVVLMSLLHLGAVYSLVLIPKAKPLTLLWAYFCFLLAALGVTAGAHRLWSHRSYRAKLPLRIFLAVANSMAFQNDIFEWSRDHRAHHKYSETDADPHNARRGFFFSHIGWLFVRKHRDVIEKGRKLDVTDLLADPVVRIQRKYYKISVVLMCFVVPTLVPWYIWGESLWNSYFLASILRYTISLNISWLVNSAAHMYGNRPYDKHISPRQNPLVALGAIGEGFHNYHHTFPFDYSASEFGLNFNPTTWFIDFMCWLGLATDRKRATKPMIEARKARTGDSSA
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal dominant, 79 (DFNA79) [MIM:619086]: A form of non-syndromic, progressive sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA79 affected females appear to have milder hearing loss than males. {ECO:0000269|PubMed:31972369}. Note=The disease may be caused by variants affecting the gene represented in this entry.
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:15610069, PubMed:15907797, PubMed:22745828). Gives rise to a mixture of 16:1 and 18:1 unsaturated fatty acids (PubMed:15610069, PubMed:15907797). Involved in neuronal cell proliferation and differentiation through down-regulation of EGFR/AKT/MAPK and Wnt signaling pathways (PubMed:22745828). {ECO:0000269|PubMed:15610069, ECO:0000269|PubMed:15907797, ECO:0000269|PubMed:22745828}.
uniprot
proteins
mass_dalton
37610
uniprot
proteins
protein_family
Fatty acid desaturase type 1 family
uniprot
proteins
pubmed
12727354
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15610069
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15907797
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
22745828
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
31972369
uniprot
proteins
sequence_length
330
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15907797, ECO:0000269|PubMed:22745828}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 50..70; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 73..93; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 194..214; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 216..238; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins