CIDEA cell death inducing DFFA like effector a [Homo sapiens (human)] - Gene

Summary

Official Symbol: CIDEAprovided by HGNC
Official Full Name: cell death inducing DFFA like effector aprovided by HGNC
Primary source: HGNC:HGNC:1976
See related: Ensembl:ENSG00000176194 MIM:604440
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: CIDE-A
Summary: This gene encodes the homolog of the mouse protein Cidea that has been shown to activate apoptosis. This activation of apoptosis is inhibited by the DNA fragmentation factor DFF45 but not by caspase inhibitors. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis in brown adipose tissue and higher core body temperatures when subjected to cold. These mice are also resistant to diet-induced obesity and diabetes. This suggests that in mice this gene product plays a role in thermogenesis and lipolysis. Alternatively spliced transcripts have been identified. [provided by RefSeq, Aug 2010]
Expression: Restricted expression toward fat (RPKM 78.2) See more
Orthologs: mouse all

Genomic context

Location:: 18p11.21; 18

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
109.20190905	current	GRCh38.p13 (GCF_000001405.39)	18	NC_000018.10 (12254361..12277595)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (12254318..12277594)

Chromosome 18 - NC_000018.10 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
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?

Cidea, unexpectedly, functions molecularly as an indirect inhibitor of thermogenesis via inhibition of UCP1 activity.
Title: UCP1 inhibition in Cidea-overexpressing mice is physiologically counteracted by brown adipose tissue hyperrecruitment.
These data establish a functional role for Cidea and suggest that, in humans, the association between Cidea levels in white fat and metabolic health is not only correlative but also causative.
Title: Cidea improves the metabolic profile through expansion of adipose tissue.
Since Cide-A protein plays a role in the development of metabolic diseases such as obesity, metabolic syndrome, type 2 diabetes and their vascular complications, CIDE -A gene and protein are potential therapeutic targets for these diseases.
Title: CIDE--A gene expression in patients with abdominal obesity and LDL hyperlipoproteinemia qualified for surgical revascularization in chronic limb ischemia.
The lowest mean relative of the gene expression for CIDE-A was observed in the group of obese patients with aortic aneurysm and lipid disorders
Title: CIDE-A gene expression in patients with obesity qualified for endovascular treatment of abdominal aorta aneurysm.
the association of tag-single nucleotide polymorphisms and haplotype structures of the CIDEA gene with obesity in a Han Chinese population, was investigated.
Title: The genetic contribution of CIDEA polymorphisms, haplotypes and loci interaction to obesity in a Han Chinese population.
CIDE proteins expression correlate with tumor and survival characteristics in patients with renal cell carcinoma.
Title: Expression of CIDE proteins in clear cell renal cell carcinoma and their prognostic significance.
Insulin regulates CIDEA and CIDEC expression via PI3K, and it regulates expression of each protein via Akt1/2-and JNK2-dependent pathways, respectively, in human adipocytes.
Title: Differential regulation of CIDEA and CIDEC expression by insulin via Akt1/2- and JNK2-dependent pathways in human adipocytes.
The proportion of subjects with CIDEA) gene V115F (G/T) polymorphism with phenotypes of metabolic syndrome in a Chinese population was significantly higher based on genotype, in the order: GG
Title: Association of the cell death-inducing DNA fragmentation factor alpha-like effector A (CIDEA) gene V115F (G/T) polymorphism with phenotypes of metabolic syndrome in a Chinese population.
CIDEA binds to liver X receptors and regulates their activity in vitro.
Title: CIDEA interacts with liver X receptors in white fat cells.
These data indicate that the carboxy-terminal domain of Cidea directs lipid droplet targeting, lipid droplet clustering, and triglyceride accumulation, whereas the amino terminal domain is required for Cidea-mediated development of enlarged lipid droplets
Title: Identification of the lipid droplet targeting domain of the Cidea protein.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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Differentiation of white and brown adipocyte, organism-specific biosystem (from WikiPathways)
Differentiation of white and brown adipocyte, organism-specific biosystemDevelopment of white versus brown adipocytes (figure from Handbook of Obesity). Transcription factors and nuclear regulators controlling the development of white versus brown adipocytes are shown in ...
Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the CIDEA gene: The CIDEA gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 228 organisms have orthologs with human gene CIDEA
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
apoptotic process	IEA Inferred from Electronic Annotation more info
cell death	ISS Inferred from Sequence or Structural Similarity more info	PubMed
lipid droplet organization	TAS Traceable Author Statement more info
lipid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
lipid storage	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
negative regulation of cytokine secretion	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of execution phase of apoptosis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
negative regulation of lipid catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of lipid catabolic process	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of transforming growth factor beta receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed
negative regulation of tumor necrosis factor production	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of sequestering of triglyceride	ISS Inferred from Sequence or Structural Similarity more info	PubMed
regulation of apoptotic DNA fragmentation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
response to stilbenoid	IEA Inferred from Electronic Annotation more info
temperature homeostasis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
cytoplasm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
cytosol	TAS Traceable Author Statement more info
lipid droplet	IBA Inferred from Biological aspect of Ancestor more info	PubMed
colocalizes_with lipid droplet	IDA Inferred from Direct Assay more info	PubMed
mitochondrial envelope	ISS Inferred from Sequence or Structural Similarity more info
mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
nucleus	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: cell death activator CIDE-A

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_001279.4 → NP_001270.1 cell death activator CIDE-A isoform 1

See identical proteins and their annotated locations for NP_001270.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the shorter isoform (1).

Source sequence(s)

BC031896, BQ718688, R73455

Consensus CDS

CCDS11856.1

UniProtKB/Swiss-Prot

O60543

UniProtKB/TrEMBL

Q8N5P9

Related

ENSP00000320209.8, ENST00000320477.9

Conserved Domains (1) summary

cd06539
Location:33 → 110

CIDE_N_A; CIDE_N domain of CIDE-A proteins. The CIDE_N (cell death-inducing DFF45-like effector, N-terminal) domain is found at the N-terminus of the CIDE (cell death-inducing DFF45-like effector) proteins. These proteins are associated with the chromatin ...
NM_001318383.2 → NP_001305312.1 cell death activator CIDE-A isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate start codon, compared to variant 1. The encoded isoform (2) has a longer and distinct N-terminus than isoform 1.

Source sequence(s)

AK122762, AP005264, BC031896

UniProtKB/TrEMBL

B3KVA2, Q8N5P9

Conserved Domains (1) summary

cd06539
Location:67 → 144

CIDE_N_A; CIDE_N domain of CIDE-A proteins. The CIDE_N (cell death-inducing DFF45-like effector, N-terminal) domain is found at the N-terminus of the CIDE (cell death-inducing DFF45-like effector) proteins. These proteins are associated with the chromatin ...

RNA

NR_134607.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site and contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK122762, AP005264, BC031896, BQ718688

Related

ENST00000522713.5