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    EI24 EI24 autophagy associated transmembrane protein [ Homo sapiens (human) ]

    Gene ID: 9538, updated on 3-Nov-2024

    Summary

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    Official Symbol
    EI24provided by HGNC
    Official Full Name
    EI24 autophagy associated transmembrane proteinprovided by HGNC
    Primary source
    HGNC:HGNC:13276
    See related
    Ensembl:ENSG00000149547 MIM:605170; AllianceGenome:HGNC:13276
    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
    EPG4; PIG8; TP53I8
    Summary
    This gene encodes a putative tumor suppressor and has higher expression in p53-expressing cells than in control cells and is an immediate-early induction target of p53-mediated apoptosis. The encoded protein may suppress cell growth by inducing apoptotic cell death through the caspase 9 and mitochondrial pathways. This gene is located on human chromosome 11q24, a region frequently altered in cancers. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, 7, and 8. [provided by RefSeq, Feb 2014]
    Expression
    Ubiquitous expression in liver (RPKM 39.6), colon (RPKM 30.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EI24 in Genome Data Viewer
    Location:
    11q24.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (125569477..125584684)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (125598125..125613333)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (125439373..125454579)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene PBX/knotted 1 homeobox 2 Neighboring gene RNA, U6 small nuclear 321, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125181994-125182578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125211245-125211994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125219321-125219863 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:125220519-125221182 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:125221183-125221844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125239164-125240045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125241808-125242687 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:125278650-125279849 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125296399-125296900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125298605-125299508 Neighboring gene Sharpr-MPRA regulatory region 8813 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:125314964-125315827 Neighboring gene Sharpr-MPRA regulatory region 13231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5697 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:125364213-125364716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125365219-125365722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125365723-125366224 Neighboring gene fasciculation and elongation protein zeta 1 Neighboring gene putative uncharacterized protein MGC39545 Neighboring gene CRISPRi-validated cis-regulatory element chr11.5907 Neighboring gene Sharpr-MPRA regulatory region 4861 Neighboring gene CRISPRi-validated cis-regulatory element chr11.5909 Neighboring gene CRISPRi-validated cis-regulatory element chr11.5910 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:125439037-125439538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5698 Neighboring gene STT3A antisense RNA 1 Neighboring gene RNA, U6 small nuclear 1156, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5699 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:125462019-125462613 Neighboring gene uncharacterized LOC118567325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5700 Neighboring gene STT3 oligosaccharyltransferase complex catalytic subunit A Neighboring gene checkpoint kinase 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Integrated analysis of the prognostic value of TP53 dependent etoposide-induced gene 24 in non-small cell lung cancer. Wang M, et al. Biomed Pharmacother, 2019 Apr. PMID 30784913
    2. Functional characterization of EI24-induced autophagy in the degradation of RING-domain E3 ligases. Devkota S, et al. Autophagy, 2016 Nov. PMID 27541728, Free PMC Article
    3. Candidate tumour suppressor genes at 11q23-q24 in breast cancer: evidence of alterations in PIG8, a gene involved in p53-induced apoptosis. Gentile M, et al. Oncogene, 2001 Nov 22. PMID 11753653
    4. Tissue specific expression of p53 target genes suggests a key role for KILLER/DR5 in p53-dependent apoptosis in vivo. Burns TF, et al. Oncogene, 2001 Aug 2. PMID 11498783
    5. miR‑483 promotes the development of colorectal cancer by inhibiting the expression level of EI24. Zhou W, et al. Mol Med Rep, 2021 Aug. PMID 34109432

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. miR483 promotes the development of colorectal cancer by inhibiting the expression level of EI24.
      Title: miR‑483 promotes the development of colorectal cancer by inhibiting the expression level of EI24.
    2. EI24 is a prognostic biomarker and impacts poor outcome in non-small cell lung cancer.
      Title: Integrated analysis of the prognostic value of TP53 dependent etoposide-induced gene 24 in non-small cell lung cancer.
    3. EI24 is an essential player in ubiquitin-proteasome system-autophagy crosstalk via degradation of RING E3 ligases.
      Title: Functional characterization of EI24-induced autophagy in the degradation of RING-domain E3 ligases.
    4. Low EI24 expression is associated with triple negative breast cancer.
      Title: MicroRNA-455-3p promotes invasion and migration in triple negative breast cancer by targeting tumor suppressor EI24.
    5. Low EI24 and high IGF-1R expressions in lung cancer patients.
      Title: Reduced expression of EI24 confers resistance to gefitinib through IGF-1R signaling in PC9 NSCLC cells.
    6. Findings establish EI24 as a critical suppressor of tumor progression.
      Title: EI24 regulates epithelial-to-mesenchymal transition and tumor progression by suppressing TRAF2-mediated NF-κB activity.
    7. Ei24 can bind specifically to IMPbeta1 and IMPalpha2 to impede their normal role in nuclear import.
      Title: The p53-induced factor Ei24 inhibits nuclear import through an importin β-binding-like domain.
    8. Ei24 is a novel E2F1 target gene contributing to the survival of p53-deficient cells upon UVC irradiation and thus may have a potential significance as a therapeutic target of certain chemotherapy for treating p53-deficient tumors.
      Title: Ei24, a novel E2F target gene, affects p53-independent cell death upon ultraviolet C irradiation.
    9. our data suggest that inactivation of EI24 and CHEK1 through two independent mechanisms contributes to the development of CACX.
      Title: Inactivation of CHEK1 and EI24 is associated with the development of invasive cervical carcinoma: clinical and prognostic implications.
    10. LOH11CR2A, PIG8 and CHEK1 are candidate tumor suppressor genes associated with breast carcinoma and have significant clinical as well as prognostic importance.
      Title: Frequent alterations of LOH11CR2A, PIG8 and CHEK1 genes at chromosomal 11q24.1-24.2 region in breast carcinoma: clinical and prognostic implications.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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 PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables importin-alpha family protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in macroautophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within negative regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    etoposide-induced protein 2.4 homolog
    Names
    ectopic P-granules autophagy protein 4 homolog
    etoposide induced 2.4
    p53-induced gene 8 protein
    tumor protein p53 inducible protein 8

    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

    1. NG_032933.1 RefSeqGene

      Range
      5076..20283
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001290135.2 → NP_001277064.1  etoposide-induced protein 2.4 homolog isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
      Source sequence(s)
      AK296620, BC002390, BG566671, DA680745, DB520736
      Consensus CDS
      CCDS76493.1
      UniProtKB/Swiss-Prot
      O14681
      Related
      ENSP00000479943.1, ENST00000534546.5
      Conserved Domains (1) summary
      pfam07264
      Location:106 → 240
      EI24; Etoposide-induced protein 2.4 (EI24)

    2. NM_001330419.2 → NP_001317348.1  etoposide-induced protein 2.4 homolog isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and lacks an alternate exon in the 3' coding region that results in a frame-shift compared to variant 1. The encoded isoform (4) is shorter than and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AA313725, AP001494, BF770607, DA680745, HY010870, KF459674
      Consensus CDS
      CCDS81643.1
      UniProtKB/TrEMBL
      E9PK61

    3. NM_004879.5 → NP_004870.3  etoposide-induced protein 2.4 homolog isoform 1

      See identical proteins and their annotated locations for NP_004870.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC002390, BG566671, DA680745, DB520736
      Consensus CDS
      CCDS73410.1
      UniProtKB/Swiss-Prot
      A8K7D6, B4DKL6, O14681, Q9BUQ1
      Related
      ENSP00000278903.7, ENST00000278903.11
      Conserved Domains (1) summary
      pfam07264
      Location:120 → 254
      EI24; Etoposide-induced protein 2.4 (EI24)

    RNA

    1. NR_110769.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AB209820, AK301556, BG566671, DA680745, DB520736, DB567734

    2. NR_110770.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site at an internal exon and contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AB209820, AK316539, BG566671, DA680745, DB520736, DB567734

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      125569477..125584684
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543069.3 → XP_011541371.1  etoposide-induced protein 2.4 homolog isoform X1

      See identical proteins and their annotated locations for XP_011541371.1

      UniProtKB/Swiss-Prot
      A8K7D6, B4DKL6, O14681, Q9BUQ1
      Conserved Domains (1) summary
      pfam07264
      Location:120 → 254
      EI24; Etoposide-induced protein 2.4 (EI24)

    2. XM_011543070.2 → XP_011541372.1  etoposide-induced protein 2.4 homolog isoform X2

      UniProtKB/TrEMBL
      E9PK61
      Related
      ENSP00000431633.3, ENST00000527235.6
      Conserved Domains (1) summary
      pfam07264
      Location:120 → 222
      EI24; Etoposide-induced protein 2.4 (EI24)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      125598125..125613333
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370557.1 → XP_054226532.1  etoposide-induced protein 2.4 homolog isoform X1

      UniProtKB/Swiss-Prot
      A8K7D6, B4DKL6, O14681, Q9BUQ1

    2. XM_054370558.1 → XP_054226533.1  etoposide-induced protein 2.4 homolog isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001007277.1: Suppressed sequence

      Description
      NM_001007277.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14681.4 GenPept UniProtKB/Swiss-Prot:O14681

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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