CIDEC cell death inducing DFFA like effector c [Homo sapiens (human)] - Gene

Summary

Official Symbol: CIDECprovided by HGNC
Official Full Name: cell death inducing DFFA like effector cprovided by HGNC
Primary source: HGNC:HGNC:24229
See related: Ensembl:ENSG00000187288 MIM:612120; AllianceGenome:HGNC:24229
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: CIDE3; FPLD5; FSP27; CIDE-3
Summary: This gene encodes a member of the cell death-inducing DNA fragmentation factor-like effector family. Members of this family play important roles in apoptosis. The encoded protein promotes lipid droplet formation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively correlated with insulin sensitivity. Mutations in this gene may contribute to insulin resistant diabetes. A pseudogene of this gene is located on the short arm of chromosome 3. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Expression: Biased expression in fat (RPKM 484.8), small intestine (RPKM 36.2) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 3p25.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (9866710..9880253, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (9858718..9872261, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (9908394..9921937, complement)

Chromosome 3 - NC_000003.12 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
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?

Paxillin family proteins Hic-5 and LPXN promote lipid storage by regulating the ubiquitination degradation of CIDEC.
Title: Paxillin family proteins Hic-5 and LPXN promote lipid storage by regulating the ubiquitination degradation of CIDEC.
Rare CIDEC coding variants enriched in age-related macular degeneration patients with small low-luminance deficit cause lipid droplet and fat storage defects.
Title: Rare CIDEC coding variants enriched in age-related macular degeneration patients with small low-luminance deficit cause lipid droplet and fat storage defects.
New Insights into Apolipoprotein A5 and the Modulation of Human Adipose-derived Mesenchymal Stem Cells Adipogenesis.
Title: New Insights into Apolipoprotein A5 and the Modulation of Human Adipose-derived Mesenchymal Stem Cells Adipogenesis.
The Differential Expression of Cide Family Members is Associated with Nafld Progression from Steatosis to Steatohepatitis.
Title: The Differential Expression of Cide Family Members is Associated with Nafld Progression from Steatosis to Steatohepatitis.
Fat-Specific Protein 27 Regulation of Vascular Function in Human Obesity.
Title: Fat-Specific Protein 27 Regulation of Vascular Function in Human Obesity.
ApoA5 can inhibit the adipogenic differentiation of AMSC,and this effect may be mediated by down-regulating the expression of CIDEC. Furthermore, our results indicate that CIDEC could be considered as a key factor in adipogenic differentiation.
Title: [Effects and mechanism of apolipoprotein A5 on adipogenic differentiation of human adipose-derived mesenchymal stem cells].
FTO increased the lipid accumulation in hepatocytes by increasing nuclear translocation of SREBP1c and SREBP1c maturation, thus improving the transcriptional activity of lipid droplet-associated protein CIDEC.
Title: FTO promotes SREBP1c maturation and enhances CIDEC transcription during lipid accumulation in HepG2 cells.
this study has indicated that 3' UTR variation in CIDEC is associated with the risk of elevated fasting glucose, the progression of hypertriglyceridemia and hypertension, and the efficacy of angiotensin II-targeted antihypertensive agents.
Title: Single nucleotide polymorphisms in CIDEC gene are associated with metabolic syndrome components risks and antihypertensive drug efficacy.
Two tissue-specific CIDEc isoforms had different roles in lipid deposition.
Title: Cidec differentially regulates lipid deposition and secretion through two tissue-specific isoforms.
data suggested that Cidec could interact with and down-regulate AMPKalpha through an ubiquitin-proteasome degradation pathway, which provided a possible mechanism of Cidec in promoting human adipocytes differentiation
Title: Cidec promotes the differentiation of human adipocytes by degradation of AMPKα through ubiquitin-proteasome pathway.

Submit: New GeneRIF Correction See all GeneRIFs (27)

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
CIDEC-related familial partial lipodystrophy MedGen: C3808940 OMIM: 615238 GeneReviews: Not available	Compare labs

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables lipid transfer activity	ISS Inferred from Sequence or Structural Similarity more info
enables molecular condensate scaffold activity	ISS Inferred from Sequence or Structural Similarity more info
enables molecular_function	ND No biological Data available more info
enables phosphatidic acid binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in execution phase of apoptosis	IDA Inferred from Direct Assay more info	PubMed
involved_in intermembrane lipid transfer	IEA Inferred from Electronic Annotation more info
involved_in lipid droplet fusion	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid droplet organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid storage	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of lipid catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of triglyceride metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in lipid droplet	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: lipid transferase CIDEC

Names: cell death activator CIDE-3; fat specific protein 27

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.

Genomic

NG_042291.1 RefSeqGene

Range

5002..18541

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001199551.2 → NP_001186480.1 lipid transferase CIDEC isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks an in-frame portion of the 5' coding region, and contains an alternate coding exon, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AC018809, AL598731, BC016851, CD518729

Consensus CDS

CCDS56239.1

UniProtKB/Swiss-Prot

Q96AQ7

Related

ENSP00000483641.1, ENST00000618572.4

Conserved Domains (1) summary

cl02541
Location:41 → 130

CIDE_N; CIDE_N domain, found at the N-terminus of the CIDE (cell death-inducing DFF45-like effector) proteins, as well as CAD nuclease (caspase-activated DNase/DNA fragmentation factor, DFF40) and its inhibitor, ICAD(DFF45). These proteins are associated with ...
NM_001199552.2 → NP_001186481.1 lipid transferase CIDEC isoform 3

See identical proteins and their annotated locations for NP_001186481.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. This variant encodes isoform 3, which is shorter than isoform 1. Variants 3 and 4 encode the same protein.

Source sequence(s)

AC018809, AL598731, BC016851, CD519587

Consensus CDS

CCDS2587.1

UniProtKB/Swiss-Prot

C9JMN7, Q67DW9, Q96AQ7, Q9GZY9

Related

ENSP00000502377.1, ENST00000675828.1

Conserved Domains (1) summary

cl02541
Location:41 → 120

CIDE_N; CIDE_N domain, found at the N-terminus of the CIDE (cell death-inducing DFF45-like effector) proteins, as well as CAD nuclease (caspase-activated DNase/DNA fragmentation factor, DFF40) and its inhibitor, ICAD(DFF45). These proteins are associated with ...
NM_001199623.2 → NP_001186552.1 lipid transferase CIDEC isoform 1

See identical proteins and their annotated locations for NP_001186552.1

Status: REVIEWED

Description

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

Source sequence(s)

AC018809, AL598630, BC016851

Consensus CDS

CCDS74897.1

UniProtKB/TrEMBL

A0A0A0MRY9

Related

ENSP00000373328.2, ENST00000383817.5

Conserved Domains (1) summary

cl02541
Location:54 → 133

CIDE_N; CIDE_N domain, found at the N-terminus of the CIDE (cell death-inducing DFF45-like effector) proteins, as well as CAD nuclease (caspase-activated DNase/DNA fragmentation factor, DFF40) and its inhibitor, ICAD(DFF45). These proteins are associated with ...
NM_001321142.2 → NP_001308071.1 lipid transferase CIDEC isoform 3

Status: REVIEWED

Source sequence(s)

AF303893, AI460316, AK024524, AL598731, BC016851, BQ695178, CD518776

Consensus CDS

CCDS2587.1

UniProtKB/Swiss-Prot

C9JMN7, Q67DW9, Q96AQ7, Q9GZY9

Related

ENSP00000338642.2, ENST00000336832.7

Conserved Domains (1) summary

cl02541
Location:41 → 120

CIDE_N; CIDE_N domain, found at the N-terminus of the CIDE (cell death-inducing DFF45-like effector) proteins, as well as CAD nuclease (caspase-activated DNase/DNA fragmentation factor, DFF40) and its inhibitor, ICAD(DFF45). These proteins are associated with ...
NM_001321143.2 → NP_001308072.1 lipid transferase CIDEC isoform 4

Status: REVIEWED

Source sequence(s)

AI460316, AK024524, AL598731, AY364640, BC016851

Consensus CDS

CCDS82731.1

UniProtKB/Swiss-Prot

Q96AQ7

Related

ENSP00000392975.1, ENST00000455015.6

Conserved Domains (1) summary

cl02541
Location:1 → 46

CIDE_N; CIDE_N domain, found at the N-terminus of the CIDE (cell death-inducing DFF45-like effector) proteins, as well as CAD nuclease (caspase-activated DNase/DNA fragmentation factor, DFF40) and its inhibitor, ICAD(DFF45). These proteins are associated with ...
NM_001321144.2 → NP_001308073.1 lipid transferase CIDEC isoform 4

Status: REVIEWED

Source sequence(s)

AF303893, AI460316, AK024524, AL598731, BC016851

Consensus CDS

CCDS82731.1

UniProtKB/Swiss-Prot

Q96AQ7

Related

ENSP00000400649.1, ENST00000423850.5

Conserved Domains (1) summary

cl02541
Location:1 → 46

CIDE_N; CIDE_N domain, found at the N-terminus of the CIDE (cell death-inducing DFF45-like effector) proteins, as well as CAD nuclease (caspase-activated DNase/DNA fragmentation factor, DFF40) and its inhibitor, ICAD(DFF45). These proteins are associated with ...
NM_001378491.1 → NP_001365420.1 lipid transferase CIDEC isoform 3

Status: REVIEWED

Source sequence(s)

AC018809

Consensus CDS

CCDS2587.1

UniProtKB/Swiss-Prot

C9JMN7, Q67DW9, Q96AQ7, Q9GZY9

Related

ENSP00000504614.1, ENST00000679265.1

Conserved Domains (1) summary

cl02541
Location:41 → 120

CIDE_N; CIDE_N domain, found at the N-terminus of the CIDE (cell death-inducing DFF45-like effector) proteins, as well as CAD nuclease (caspase-activated DNase/DNA fragmentation factor, DFF40) and its inhibitor, ICAD(DFF45). These proteins are associated with ...
NM_022094.3 → NP_071377.2 lipid transferase CIDEC isoform 3

See identical proteins and their annotated locations for NP_071377.2

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. This variant encodes isoform 3, which is shorter than isoform 1. Variants 3 and 4 encode the same protein.

Source sequence(s)

AC018809, AF303893, BC016851

Consensus CDS

CCDS2587.1

UniProtKB/Swiss-Prot

C9JMN7, Q67DW9, Q96AQ7, Q9GZY9

Conserved Domains (1) summary

cl02541
Location:41 → 120

CIDE_N; CIDE_N domain, found at the N-terminus of the CIDE (cell death-inducing DFF45-like effector) proteins, as well as CAD nuclease (caspase-activated DNase/DNA fragmentation factor, DFF40) and its inhibitor, ICAD(DFF45). These proteins are associated with ...