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

    Gene ID: 27141, updated on 27-Nov-2024

    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 lipid droplet fusion and positive regulation of apoptotic process. Acts upstream of or within apoptotic process. Located in cytosol and perinuclear region of cytoplasm. Is active in lipid droplet. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in liver (RPKM 36.3), duodenum (RPKM 31.8) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CIDEB in Genome Data Viewer
    Location:
    14q12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24305187..24311435, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18503530..18509778, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24774393..24780641, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene TGM1 promoter region Neighboring gene Rab geranylgeranyltransferase subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8204 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8209 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:24747863-24748093 Neighboring gene NOP9 nucleolar protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8213 Neighboring gene dehydrogenase/reductase 1 Neighboring gene nonconserved acetylation island sequence 81 enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24785286-24785786 Neighboring gene leukotriene B4 receptor 2 Neighboring gene leukotriene B4 receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24790818-24791777 Neighboring gene adenylate cyclase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5639

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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

    Preferred Names
    lipid transferase CIDEB
    Names
    cell death activator CIDE-B

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_001318807.3NP_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:34114
      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 ...
    2. NM_001393334.1NP_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:34114
      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 ...
    3. NM_001393335.1NP_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:34114
      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 ...
    4. NM_001393336.1NP_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:34114
      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 ...
    5. NM_001393337.1NP_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:34114
      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 ...
    6. NM_001393338.1NP_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:34114
      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 ...
    7. NM_001393339.1NP_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:34114
      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 ...
    8. NM_001393340.1NP_001380269.1  lipid transferase CIDEB isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL096870
      Conserved Domains (1) summary
      cl02541
      Location:3467
      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 ...
    9. NM_014430.4NP_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:34114
      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 ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      24305187..24311435 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654722.1 Reference GRCh38.p14 PATCHES

      Range
      606165..612413 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332337.1XP_054188312.1  lipid transferase CIDEB isoform X1

    2. XM_054332336.1XP_054188311.1  lipid transferase CIDEB isoform X2

      UniProtKB/Swiss-Prot
      D3DS73, Q546V8, Q9NNW9, Q9UHD4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      18503530..18509778 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375874.1XP_054231849.1  lipid transferase CIDEB isoform X3

    2. XM_054375873.1XP_054231848.1  lipid transferase CIDEB isoform X2

      UniProtKB/Swiss-Prot
      D3DS73, Q546V8, Q9NNW9, Q9UHD4