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

Summary

Official Symbol: SCDprovided by HGNC
Official Full Name: stearoyl-CoA desaturaseprovided by HGNC
Primary source: HGNC:HGNC:10571
See related: Ensembl:ENSG00000099194 MIM:604031; AllianceGenome:HGNC:10571
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SCD1; FADS5; SCDOS; hSCD1; MSTP008
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 approximately 3.9 and 5.2 kb, differing only by alternative polyadenlyation signals, have been detected. A gene encoding a similar enzyme is located on chromosome 4 and a pseudogene of this gene is located on chromosome 17. [provided by RefSeq, Sep 2015]
Expression: Biased expression in fat (RPKM 972.1), brain (RPKM 238.0) and 4 other tissues See more
Orthologs: all
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Genomic context

Location:: 10q24.31

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (100347233..100364826)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (101231456..101249056)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (102106990..102124583)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Severity Ranking of Missense and Frameshift Genetic Variants in SCD1 by In Silico and In Vitro Functional Analysis.
Title: Severity Ranking of Missense and Frameshift Genetic Variants in SCD1 by In Silico and In Vitro Functional Analysis.
Death and the desaturase: Implication of Stearoyl-CoA desaturase-1 in the mechanisms of cell stress, apoptosis, and ferroptosis.
Title: Death and the desaturase: Implication of Stearoyl-CoA desaturase-1 in the mechanisms of cell stress, apoptosis, and ferroptosis.
Lactate drives the ESM1-SCD1 axis to inhibit the antitumor CD8[+] T-cell response by activating the Wnt/beta-catenin pathway in ovarian cancer cells and inducing cisplatin resistance.
Title: Lactate drives the ESM1-SCD1 axis to inhibit the antitumor CD8(+) T-cell response by activating the Wnt/β-catenin pathway in ovarian cancer cells and inducing cisplatin resistance.
Blocking Ubiquitin-Specific Protease 7 Induces Ferroptosis in Gastric Cancer via Targeting Stearoyl-CoA Desaturase.
Title: Blocking Ubiquitin-Specific Protease 7 Induces Ferroptosis in Gastric Cancer via Targeting Stearoyl-CoA Desaturase.
Knockdown of sterol O-acyltransferase 1 (SOAT1) suppresses SCD1-mediated lipogenesis and cancer procession in prostate cancer.
Title: Knockdown of sterol O-acyltransferase 1 (SOAT1) suppresses SCD1-mediated lipogenesis and cancer procession in prostate cancer.
FADS2 confers SCD1 inhibition resistance to cancer cells by modulating the ER stress response.
Title: FADS2 confers SCD1 inhibition resistance to cancer cells by modulating the ER stress response.
Active AKT2 stimulation of SREBP1/SCD1-mediated lipid metabolism boosts hepatosteatosis and cancer.
Title: Active AKT2 stimulation of SREBP1/SCD1-mediated lipid metabolism boosts hepatosteatosis and cancer.
[Expression of SCD1 in TFE3-rRCC and its effect on proliferation and migration].
Title: [Expression of SCD1 in TFE3-rRCC and its effect on proliferation and migration].
Induction of stearoyl-CoA desaturase confers cell density-dependent ferroptosis resistance in melanoma.
Title: Induction of stearoyl-CoA desaturase confers cell density-dependent ferroptosis resistance in melanoma.
Stearoyl-CoA desaturase 1 inhibition induces ER stress-mediated apoptosis in ovarian cancer cells.
Title: Stearoyl-CoA desaturase 1 inhibition induces ER stress-mediated apoptosis in ovarian cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (159)

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

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu EBI GWAS Catalog EBI GWAS CatalogPubMed
Human metabolic individuality in biomedical and pharmaceutical research. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of stearoyl-CoA desaturase (delta-9-desaturase; SCD) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
matrix	gag	HIV-1 MA increases SCD mRNA expression in HepG2 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11040 (e-PCR)
- UniSTS:87682

RH11186 (e-PCR)
- UniSTS:64152

D10S2199 (e-PCR)
- UniSTS:64153

STS-S70284 (e-PCR)
- UniSTS:48810

SHGC-34978 (e-PCR)
- UniSTS:5557

RH45424 (e-PCR)
- UniSTS:5820

RH11163 (e-PCR)
- UniSTS:58300

A002P35 (e-PCR)
- UniSTS:49098

D10S1355E (e-PCR)
- UniSTS:47070

IB293 (e-PCR)
- UniSTS:17890

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables iron ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables iron ion binding	IDA Inferred from Direct Assay more info	PubMed
enables oxidoreductase activity	IDA Inferred from Direct Assay more info	PubMed
enables palmitoyl-CoA 9-desaturase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables stearoyl-CoA 9-desaturase activity	IBA Inferred from Biological aspect of Ancestor more info
enables stearoyl-CoA 9-desaturase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in monounsaturated fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in response to fatty acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in unsaturated fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in unsaturated fatty acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: stearoyl-CoA desaturase

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

NP_005054.3

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_005063.5 → NP_005054.3 stearoyl-CoA desaturase

See identical proteins and their annotated locations for NP_005054.3

Status: REVIEWED

Source sequence(s)

AI761929, AK312312, AL139819, BC062303

Consensus CDS

CCDS7493.1

UniProtKB/Swiss-Prot

B2R5U0, D3DR68, O00767, Q16150, Q53GR9, Q5W037, Q5W038, Q6GSS4, Q96KF6, Q9BS07, Q9Y695

UniProtKB/TrEMBL

Q59GX7

Related

ENSP00000359380.2, ENST00000370355.3

Conserved Domains (2) summary

cd03505
Location:100 → 337

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:102 → 306

FA_desaturase; Fatty acid desaturase