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SCD5 - stearoyl-CoA desaturase 5 Gene

Also Known as SCD2; SCD4; ACOD4; FADS4; HSCD5; DFNA79

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79966

About SCD5

Cytogenetic location: 4q21.22 Genomic coordinates (GRCh38): 4:82,629,539-82,798,796 (from NCBI)

This gene has 2 transcripts (splice variants), 143 orthologues, 1 paralogue and is associated with 1 phenotype. Biased expression in brain (RPKM 129.6), adrenal (RPKM 62.7) and 5 other tissues.

Summary

Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an integral membrane protein of the endoplasmic reticulum that catalyzes the formation of monounsaturated fatty acids from saturated fatty acids. SCD may be a key regulator of energy metabolism with a role in obesity and dislipidemia. Four SCD isoforms, Scd1 through Scd4, have been identified in mouse. In contrast, only 2 SCD isoforms, SCD1 (MIM 604031) and SCD5, have been identified in human. SCD1 shares about 85% amino acid identity with all 4 mouse SCD isoforms, as well as with rat Scd1 and Scd2. In contrast, SCD5 shares limited homology with the rodent SCDs and appears to be unique to primates (Wang et al., 2005 [PubMed 15907797]).[supplied by OMIM, Mar 2008]

SCD5 Products (2)

mRNA	Protein	Name
NM_001037582.3	NP_001032671.2	stearoyl-CoA desaturase 5 isoform a
NM_024906.3	NP_079182.2	stearoyl-CoA desaturase 5 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables oxidoreductase activity	IDA IDA: Inferred from direct assay	15907797	GOA
enables stearoyl-CoA 9-desaturase activity	IDA IDA: Inferred from direct assay	15907797	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in unsaturated fatty acid biosynthetic process	IDA IDA: Inferred from direct assay	15907797	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	15907797	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SCD5 Protein Structure

FA_desaturase

0
100
200
300
330 a.a.

Protein Preferred Names	Protein Names
stearoyl-CoA desaturase 5	acyl-CoA-desaturase 4

Related Diseases

Diseases	Alias
Deafness, Autosomal Dominant 79	DFNA79 Deafness, Autosomal Dominant, 79
Chronic Maxillary Sinusitis	Chronic Antritis
Lipodystrophy, Congenital Generalized, Type 3	Congenital Generalized Lipodystrophy Type 3 CGL3 Bscl3 Berardinelli-Seip Congenital Lipodystrophy Type 3 Berardinelli-Seip Congenital Lipodystrophy, Type 3 Lipodystrophy, Berardinelli-Seip Congenital, Type 3 Type 3 Berardinelli-Seip Congenital Lipodystrophy Congenital Generalized Lipodystrophy 3
Vas Deferens, Congenital Bilateral Aplasia Of	Congenital Bilateral Absence Of Vas Deferens CBAVD Cavd Congenital Bilateral Aplasia Of Vas Deferens Congenital Bilateral Absence Of The Vas Deferens Congenital Bilateral Agenesis Of Vas Deferens Absence Of Vas Deferens Absent Vasa Congenital Absence Of Vas Deferens Congenital Aplasia Of Vas Deferens Absent Vas Deferens Vas Deferens, Congenital Bilateral Absence
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-34603	1-Methyl-1H-pyrazole-3-carboxylic acid		99.53%	Unkown
HY-RS12497	SCD5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown