Gene Gene information from NCBI Gene database.
Entrez ID 6319
Gene name Stearoyl-CoA desaturase
Gene symbol SCD
Synonyms (NCBI Gene)
FADS5MSTP008SCD1SCDOShSCD1
Chromosome 10
Chromosome location 10q24.31
Summary This gene encodes an enzyme involved in fatty acid biosynthesis, primarily the synthesis of oleic acid. The protein belongs to the fatty acid desaturase family and is an integral membrane protein located in the endoplasmic reticulum. Transcripts of approx
miRNA miRNA information provided by mirtarbase database.
2907
miRTarBase ID miRNA Experiments Reference
MIRT017330 hsa-miR-335-5p Microarray 18185580
MIRT020585 hsa-miR-155-5p Proteomics 18668040
MIRT024946 hsa-miR-215-5p Microarray 19074876
MIRT025105 hsa-miR-181a-5p Sequencing 20371350
MIRT026303 hsa-miR-192-5p Microarray 19074876
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
RARA Activation 11397803
SREBF1 Unknown 11414710
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0004768 Function Stearoyl-CoA 9-desaturase activity IBA
GO:0004768 Function Stearoyl-CoA 9-desaturase activity IDA 15907797, 18765284
GO:0004768 Function Stearoyl-CoA 9-desaturase activity IEA
GO:0004768 Function Stearoyl-CoA 9-desaturase activity TAS 10229681
GO:0005506 Function Iron ion binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604031 10571 ENSG00000099194
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00767
Protein name Stearoyl-CoA desaturase (hSCD1) (EC 1.14.19.1) (Acyl-CoA desaturase) (Delta(9)-desaturase) (Delta-9 desaturase) (Fatty acid desaturase)
Protein 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 (PubMed:15907797, PubMed:18765284). Catalyzes the insertion of a cis double bond at t
PDB 4ZYO
Family and domains
Tissue specificity TISSUE SPECIFICITY: Detected in fetal liver, lung and brain. Highly expressed in adult adipose tissue, and at lower levels in adult brain and lung. {ECO:0000269|PubMed:15907797}.
Sequence
MPAHLLQDDISSSYTTTTTITAPPSRVLQNGGDKLETMPLYLEDDIRPDIKDDIYDPTYK
DKEGPSPKVEYVWRNIILMSLLHLGALYGITLIPTCKFYTWLWGVFYYFVSALGITAGAH
RLWSHRSYKARLPLRLFLIIANTMAFQNDVYEWARDHRAHHKFSETHADPHNSRRGFFFS
HVGWLLVRKHPAVKEKGSTLDLSDLEAEKLVMFQRRYYKPGLLMMCFILPTLVPWYFWGE
TFQNSVFVATFLRYAVVLNATWLVNSAAHLFGYRPYDKNISPRENILVSLGAVGEGFHNY
HHSFPYDYSASEYRWHINFTTFFIDCMAALGLAYDRKKVSKAAILARIKRTGDGNYKSG
Sequence length 359
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ADRENOLEUKODYSTROPHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 26898195
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 15609334, 18813799
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 28797843
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28368399
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 15609334
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 31810489
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 23785402
★☆☆☆☆
Found in Text Mining only
Anaplastic carcinoma Anaplastic Carcinoma CTD_human_DG 12376462, 16316942
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 25675381
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 27667587, 29232169
★☆☆☆☆
Found in Text Mining only