SCD5 stearoyl-CoA desaturase 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SCD5provided by HGNC
Official Full Name: stearoyl-CoA desaturase 5provided by HGNC
Primary source: HGNC:HGNC:21088
See related: Ensembl:ENSG00000145284 MIM:608370; AllianceGenome:HGNC:21088
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SCD2; SCD4; ACOD4; FADS4; HSCD5; DFNA79
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]
Expression: Biased expression in brain (RPKM 129.6), adrenal (RPKM 62.7) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q21.22

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (82629539..82798796, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (85958718..86128016, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (83550692..83719949, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular Basis of Unequal Alternative Splicing of Human SCD5 and Its Alteration by Natural Genetic Variations.
Title: Molecular Basis of Unequal Alternative Splicing of Human SCD5 and Its Alteration by Natural Genetic Variations.
A Single Nucleotide Polymorphism (rs3811792) Affecting Human SCD5 Promoter Activity Is Associated with Diabetes Mellitus.
Title: A Single Nucleotide Polymorphism (rs3811792) Affecting Human SCD5 Promoter Activity Is Associated with Diabetes Mellitus.
SCD2-mediated cooperative activation of IRF3-IRF9 regulatory circuit controls type I interferon transcriptome in CD4(+) T cells.
Title: SCD2-mediated cooperative activation of IRF3-IRF9 regulatory circuit controls type I interferon transcriptome in CD4(+) T cells.
SCD5 expression correlates with prognosis and response to neoadjuvant chemotherapy in breast cancer.
Title: SCD5 expression correlates with prognosis and response to neoadjuvant chemotherapy in breast cancer.
Stearoyl-CoA desaturase 5 (SCD5), a Delta-9 fatty acyl desaturase in search of a function.
Title: Stearoyl-CoA desaturase 5 (SCD5), a Δ-9 fatty acyl desaturase in search of a function.
Whole exome sequencing identifies SCD5 as a novel causative gene for autosomal dominant nonsyndromic deafness.
Title: Whole exome sequencing identifies SCD5 as a novel causative gene for autosomal dominant nonsyndromic deafness.
SCD5 genotype TC, GA, AG, and CG of rs6840, rs1065403, rs3821974, and rs3733230, respectively were higher in control group than hepatocellular carcinoma (HCC). these genotype decreased the risk (rs6840; OR 0.55, rs1065403; OR 0.46, rs3821974; OR 0.56, rs3821974; OR 0.56) of HCC. Our results indicate that polymorphisms in the 3'-UTR of the SCD5 gene may associated with HCC in the Korean male population.
Title: Polymorphisms in the 3'-UTR of SCD5 gene are associated with hepatocellular carcinoma in Korean population.
SCD5 appears to functionally connect tumour cells and the surrounding stroma toward modification of the tumour microenvironment, with consequences on tumour spread and resistance to treatment.
Title: SCD5-induced oleic acid production reduces melanoma malignancy by intracellular retention of SPARC and cathepsin B.
The protective effect of TO901317 was lost after gene silencing of Scd-1/-2, thereby confirming that the protective effect of TO901317 is mediated by Scd-1/-2.
Title: Susceptibility of podocytes to palmitic acid is regulated by stearoyl-CoA desaturases 1 and 2.
Data suggest that, by a coordinated modulation of key lipogenic pathways and transduction signaling cascades, SCD5 participates in the regulation of neuronal cell growth and differentiation.
Title: StearoylCoA desaturase-5: a novel regulator of neuronal cell proliferation and differentiation.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hearing loss, autosomal dominant 79 MedGen: C5436772 OMIM: 619086 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-24770 (e-PCR)
- UniSTS:33027

D4S2886 (e-PCR)
- UniSTS:43269

G54671 (e-PCR)
- UniSTS:117776

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

D4S1119 (e-PCR)
- UniSTS:22067

RPS26 (e-PCR)
- UniSTS:266293

G33585 (e-PCR)
- UniSTS:72002

SHGC-58090 (e-PCR)
- UniSTS:3674

G59924 (e-PCR)
- UniSTS:137067

RH123934 (e-PCR)
- UniSTS:136309

D4S3160 (e-PCR)
- UniSTS:32119

SHGC-59596 (e-PCR)
- UniSTS:9925

WI-19688 (e-PCR)
- UniSTS:75211

SHGC-67695 (e-PCR)
- UniSTS:81112

SHGC-51070 (e-PCR)
- UniSTS:59358

SHGC-51006 (e-PCR)
- UniSTS:25824

D4S2402 (e-PCR)
- UniSTS:47330

G19790 (e-PCR)
- UniSTS:5355

A001Y29 (e-PCR)
- UniSTS:5356

D4S1199 (e-PCR)
- UniSTS:20463

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IDA Inferred from Direct Assay more info	PubMed
enables stearoyl-CoA 9-desaturase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in unsaturated fatty acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: stearoyl-CoA desaturase 5

Names: acyl-CoA-desaturase 4; stearoyl-CoA 9-desaturase; stearoyl-CoA desaturase 2; stearoyl-CoA desaturase 4

NP_001032671.2

EC 1.14.19.1

NP_079182.2

EC 1.14.19.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001037582.3 → NP_001032671.2 stearoyl-CoA desaturase 5 isoform a

See identical proteins and their annotated locations for NP_001032671.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encoded the longer isoform (A).

Source sequence(s)

AF389338, BC048971, DB479400, DR763368

Consensus CDS

CCDS34024.1

UniProtKB/Swiss-Prot

B2RPG0, Q4W5Q5, Q86SK9, Q8NDS0, Q9H7D1

Related

ENSP00000316329.4, ENST00000319540.9

Conserved Domains (2) summary

cd03505
Location:71 → 311

Delta9-FADS-like; The Delta9 Fatty Acid Desaturase (Delta9-FADS)-like CD includes the delta-9 and delta-11 acyl CoA desaturases found in various eukaryotes including vertebrates, insects, higher plants, and fungi. The delta-9 acyl-lipid desaturases are found in a wide ...

pfam00487
Location:77 → 279

FA_desaturase; Fatty acid desaturase
NM_024906.3 → NP_079182.2 stearoyl-CoA desaturase 5 isoform b

See identical proteins and their annotated locations for NP_079182.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) has multiple differences in the 3' coding region, compared to variant 1, which result in a protein (isoform B) with a shorter and distinct C-terminus, compared to isoform A.

Source sequence(s)

AC073413

Consensus CDS

CCDS3595.1

UniProtKB/Swiss-Prot

Q86SK9

Related

ENSP00000273908.4, ENST00000273908.4

Conserved Domains (1) summary

cd03505
Location:71 → 159

Delta9-FADS-like; The Delta9 Fatty Acid Desaturase (Delta9-FADS)-like CD includes the delta-9 and delta-11 acyl CoA desaturases found in various eukaryotes including vertebrates, insects, higher plants, and fungi. The delta-9 acyl-lipid desaturases are found in a wide ...