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

    Gene ID: 63924, updated on 5-Mar-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CIDEC in Genome Data Viewer
    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_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19411 Neighboring gene RNA pseudouridine synthase D3 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:9890179-9891039 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9895593-9896262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:9901011-9901551 Neighboring gene MARK2 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 13942 Neighboring gene Sharpr-MPRA regulatory region 9891 Neighboring gene Sharpr-MPRA regulatory region 14744 Neighboring gene jagunal homolog 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9944736-9945405 Neighboring gene interleukin 17 receptor E Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14047 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14049 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:9958035-9958574

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20871

    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 
    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

    Preferred Names
    lipid transferase CIDEC
    Names
    cell death activator CIDE-3
    fat specific protein 27

    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.

    Genomic

    1. NG_042291.1 RefSeqGene

      Range
      5002..18541
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199551.2NP_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:41130
      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 ...
    2. NM_001199552.2NP_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:41120
      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 ...
    3. NM_001199623.2NP_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:54133
      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 ...
    4. NM_001321142.2NP_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:41120
      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 ...
    5. NM_001321143.2NP_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:146
      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 ...
    6. NM_001321144.2NP_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:146
      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 ...
    7. NM_001378491.1NP_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:41120
      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 ...
    8. NM_022094.3NP_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:41120
      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 ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      9866710..9880253 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448686.1XP_047304642.1  lipid transferase CIDEC isoform X2

    2. XM_047448685.1XP_047304641.1  lipid transferase CIDEC isoform X1

      UniProtKB/Swiss-Prot
      C9JMN7, Q67DW9, Q96AQ7, Q9GZY9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      9858718..9872261 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347490.1XP_054203465.1  lipid transferase CIDEC isoform X2