CIDEB cell death inducing DFFA like effector b [Homo sapiens (human)] - Gene

Summary

Official Symbol: CIDEBprovided by HGNC
Official Full Name: cell death inducing DFFA like effector bprovided by HGNC
Primary source: HGNC:HGNC:1977
See related: Ensembl:ENSG00000136305 MIM:604441; AllianceGenome:HGNC:1977
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
Summary: Enables identical protein binding activity. Involved in activation of cysteine-type endopeptidase activity; positive regulation of cell death; and positive regulation of release of cytochrome c from mitochondria. Acts upstream of or within apoptotic process. Located in cytosol and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in liver (RPKM 36.3), duodenum (RPKM 31.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q12

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (24305187..24311435, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (18503530..18509778, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (24774393..24780641, complement)

Chromosome 14 - NC_000014.9 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?

Germline Mutations in CIDEB and Protection against Liver Disease.
Title: Germline Mutations in CIDEB and Protection against Liver Disease.
Association of CIDEB gene promoter methylation with overweight or obesity in adults.
Title: Association of CIDEB gene promoter methylation with overweight or obesity in adults.
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.
High Cideb expression is associated with Ulcerative Colitis.
Title: Cideb Deficiency Aggravates Dextran Sulfate Sodium-induced Ulcerative Colitis in Mice by Exacerbating the Oxidative Burden in Colonic Mucosa.
CIDEB interacts with the HCV NS5A protein, and the N terminus of CIDEB and the domain I of NS5A are involved in this interaction.
Title: Cell-death-inducing DFFA-like Effector B Contributes to the Assembly of Hepatitis C Virus (HCV) Particles and Interacts with HCV NS5A.
these data revealed that Cideb plays an important role in controlling intestinal chylomicron lipidation.
Title: Cideb facilitates the lipidation of chylomicrons in the small intestine.
this study shows that C5a signaling induces apoptosis in brain vascular endothelial cells in experimental lupus through activation of CIDEB
Title: C5a induces caspase-dependent apoptosis in brain vascular endothelial cells in experimental lupus.
CIDEB downregulation may contribute to HCV-induced hepatic steatosis
Title: Hepatitis C Virus-Induced Degradation of Cell Death-Inducing DFFA-Like Effector B Leads to Hepatic Lipid Dysregulation.
CIDEB can act as an anti-HCV host factor and contribute to altered triglyceride homeostasis.
Title: Investigating the antiviral role of cell death-inducing DFF45-like effector B in HCV replication.
Authors found CIDEB to be an essential cofactor for hepatitis C virus entry into hepatocytes.
Title: Cell death-inducing DFFA-like effector b is required for hepatitis C virus entry into hepatocytes.

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

EBI GWAS Catalog

Description
Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S1220 (e-PCR)
- UniSTS:15420

STS-Z41293 (e-PCR)
- UniSTS:82753

RH94061 (e-PCR)
- UniSTS:89420

CIDEB_7222 (e-PCR)
- UniSTS:466120

RH93439 (e-PCR)
- UniSTS:90599

RH91413 (e-PCR)
- UniSTS:84456

STS-AA009760 (e-PCR)
- UniSTS:78057

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables lipid transfer activity	ISS Inferred from Sequence or Structural Similarity more info
enables molecular adaptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidic acid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in COPII-coated vesicle cargo loading	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in bile acid signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in execution phase of apoptosis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in intermembrane lipid transfer	IEA Inferred from Electronic Annotation more info
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	TAS Traceable Author Statement more info	PubMed
involved_in lipid droplet fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid storage	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of triglyceride metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to nutrient levels	IEA Inferred from Electronic Annotation more info
involved_in very-low-density lipoprotein particle assembly	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in COPI-coated vesicle	IEA Inferred from Electronic Annotation more info
part_of COPII vesicle coat	ISS Inferred from Sequence or Structural Similarity more info
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
is_active_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in lipid droplet	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: lipid transferase CIDEB

Names: cell death activator CIDE-B

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_001318807.3 → NP_001305736.1 lipid transferase CIDEB isoform 1

Status: VALIDATED

Source sequence(s)

AL096870

Consensus CDS

CCDS32056.1

UniProtKB/Swiss-Prot

D3DS73, Q546V8, Q9NNW9, Q9UHD4

UniProtKB/TrEMBL

B3KVD6

Related

ENSP00000337731.5, ENST00000336557.9

Conserved Domains (1) summary

cd06537
Location:34 → 114

CIDE_N_B; CIDE_N domain of CIDE-B 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_001393334.1 → NP_001380263.1 lipid transferase CIDEB isoform 1

Status: VALIDATED

Source sequence(s)

AL096870

Consensus CDS

CCDS32056.1

UniProtKB/Swiss-Prot

D3DS73, Q546V8, Q9NNW9, Q9UHD4

UniProtKB/TrEMBL

B3KVD6

Conserved Domains (1) summary

cd06537
Location:34 → 114

CIDE_N_B; CIDE_N domain of CIDE-B 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_001393335.1 → NP_001380264.1 lipid transferase CIDEB isoform 1

Status: VALIDATED

Source sequence(s)

AL096870

Consensus CDS

CCDS32056.1

UniProtKB/Swiss-Prot

D3DS73, Q546V8, Q9NNW9, Q9UHD4

UniProtKB/TrEMBL

B3KVD6

Conserved Domains (1) summary

cd06537
Location:34 → 114

CIDE_N_B; CIDE_N domain of CIDE-B 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_001393336.1 → NP_001380265.1 lipid transferase CIDEB isoform 1

Status: VALIDATED

Source sequence(s)

AL096870

Consensus CDS

CCDS32056.1

UniProtKB/Swiss-Prot

D3DS73, Q546V8, Q9NNW9, Q9UHD4

UniProtKB/TrEMBL

B3KVD6

Conserved Domains (1) summary

cd06537
Location:34 → 114

CIDE_N_B; CIDE_N domain of CIDE-B 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_001393337.1 → NP_001380266.1 lipid transferase CIDEB isoform 1

Status: VALIDATED

Source sequence(s)

AL096870

Consensus CDS

CCDS32056.1

UniProtKB/Swiss-Prot

D3DS73, Q546V8, Q9NNW9, Q9UHD4

UniProtKB/TrEMBL

B3KVD6

Conserved Domains (1) summary

cd06537
Location:34 → 114

CIDE_N_B; CIDE_N domain of CIDE-B 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_001393338.1 → NP_001380267.1 lipid transferase CIDEB isoform 1

Status: VALIDATED

Source sequence(s)

AL096870

Consensus CDS

CCDS32056.1

UniProtKB/Swiss-Prot

D3DS73, Q546V8, Q9NNW9, Q9UHD4

UniProtKB/TrEMBL

B3KVD6

Conserved Domains (1) summary

cd06537
Location:34 → 114

CIDE_N_B; CIDE_N domain of CIDE-B 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_001393339.1 → NP_001380268.1 lipid transferase CIDEB isoform 1

Status: VALIDATED

Source sequence(s)

AL096870

Consensus CDS

CCDS32056.1

UniProtKB/Swiss-Prot

D3DS73, Q546V8, Q9NNW9, Q9UHD4

UniProtKB/TrEMBL

B3KVD6

Related

ENSP00000451089.1, ENST00000554411.6

Conserved Domains (1) summary

cd06537
Location:34 → 114

CIDE_N_B; CIDE_N domain of CIDE-B 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_001393340.1 → NP_001380269.1 lipid transferase CIDEB isoform 2

Status: VALIDATED

Source sequence(s)

AL096870

Conserved Domains (1) summary

cl02541
Location:34 → 67

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_014430.4 → NP_055245.2 lipid transferase CIDEB isoform 1

See identical proteins and their annotated locations for NP_055245.2

Status: VALIDATED

Source sequence(s)

AL096870

Consensus CDS

CCDS32056.1

UniProtKB/Swiss-Prot

D3DS73, Q546V8, Q9NNW9, Q9UHD4

UniProtKB/TrEMBL

B3KVD6

Related

ENSP00000258807.5, ENST00000258807.5

Conserved Domains (1) summary

cd06537
Location:34 → 114

CIDE_N_B; CIDE_N domain of CIDE-B 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 ...