• Gene id: 6319

Gene Summary

• Gene Symbol: SCD   Gene   UCSC   Ensembl
• Aliases: FADS5, MSTP008, SCD1, SCDOS, hSCD1
• Gene name: stearoyl-CoA desaturase
• Alternate names: acyl-CoA desaturase, delta(9)-desaturase, fatty acid desaturase, predicted protein of HQ0998, stearoyl-CoA desaturase (delta-9-desaturase), stearoyl-CoA desaturase opposite strand,
• Gene location: 10q24.31 (100347232: 100364825)     Exons: 6     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 604031

SNPs

rs12348

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.25677217T>C
NC_000009.12   g.25677217T>G
NC_000009.11   g.25677215T>C
NC_000009.11   g.25677215T>G
NG_012031.1   g.6642A>G
NG_012031.1   g.6642A>C
NM_001004125.2   c.*466A>G
NM_001004125.2   c.*466A>C|SEQ=[T/C/G]|GENE=TUSC1

Protein Summary

• Protein general information: O00767  
  • Name: Acyl CoA desaturase (EC 1.14.19.1) (Delta(9) desaturase) (Delta 9 desaturase) (Fatty acid desaturase) (Stearoyl CoA desaturase) (hSCD1)
  • Length: 359  
  • Mass: 41523
  • 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
• Sequence:

  MPAHLLQDDISSSYTTTTTITAPPSRVLQNGGDKLETMPLYLEDDIRPDIKDDIYDPTYKDKEGPSPKVEYVWRN
  IILMSLLHLGALYGITLIPTCKFYTWLWGVFYYFVSALGITAGAHRLWSHRSYKARLPLRLFLIIANTMAFQNDV
  YEWARDHRAHHKFSETHADPHNSRRGFFFSHVGWLLVRKHPAVKEKGSTLDLSDLEAEKLVMFQRRYYKPGLLMM
  CFILPTLVPWYFWGETFQNSVFVATFLRYAVVLNATWLVNSAAHLFGYRPYDKNISPRENILVSLGAVGEGFHNY
  HHSFPYDYSASEYRWHINFTTFFIDCMAALGLAYDRKKVSKAAILARIKRTGDGNYKSG

• Structural information:
  • Interpro: IPR015876  IPR001522  
  • Prosite: PS00476
  • CDD: cd03505
  • PDB: 4ZYO
  • PDBsum: 4ZYO
  • STRING: ENSP00000359380
• Other Databases: GeneCards:  SCD  Malacards:  SCD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004768	stearoyl-CoA 9-desaturase activity	IBA	molecular function
GO:0005506	iron ion binding	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0006636	unsaturated fatty acid biosynthetic process	IBA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0032896	palmitoyl-CoA 9-desaturase activity	IBA	molecular function
GO:0016021	integral component of membrane	IBA	cellular component
GO:0070542	response to fatty acid	IBA	biological process
GO:0006636	unsaturated fatty acid biosynthetic process	IDA	biological process
GO:0004768	stearoyl-CoA 9-desaturase activity	IDA	molecular function
GO:0005506	iron ion binding	IDA	molecular function
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0004768	stearoyl-CoA 9-desaturase activity	IDA	molecular function
GO:0006636	unsaturated fatty acid biosynthetic process	IDA	biological process
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0016021	integral component of membrane	IDA	cellular component
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016717	oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0004768	stearoyl-CoA 9-desaturase activity	TAS	molecular function
GO:0004768	stearoyl-CoA 9-desaturase activity	IEA	molecular function
GO:0046949	fatty-acyl-CoA biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0045540	regulation of cholesterol biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04152	AMPK signaling pathway
hsa03320	PPAR signaling pathway
hsa01212	Fatty acid metabolism
hsa01040	Biosynthesis of unsaturated fatty acids

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)