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

Gene ID: 9538, updated on 1-Aug-2020

Summary

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
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

Genomic context

See EI24 in Genome Data Viewer
Location:
11q24.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (125569216..125584684)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (125439298..125454575)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr11.5909 Neighboring gene CRISPRi-validated cis-regulatory element chr11.5910 Neighboring gene STT3A antisense RNA 1 Neighboring gene RNA, U6 small nuclear 1156, pseudogene Neighboring gene STT3 oligosaccharyltransferase complex catalytic subunit A Neighboring gene checkpoint kinase 1 Neighboring gene RNA, U2 small nuclear 35, pseudogene

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
macroautophagy IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
nuclear membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_001290135.2NP_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:106240
    EI24; Etoposide-induced protein 2.4 (EI24)
  2. NM_001330419.2NP_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_004879.5NP_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
    O14681
    UniProtKB/TrEMBL
    A0A024R3I8
    Related
    ENSP00000278903.7, ENST00000278903.11
    Conserved Domains (1) summary
    pfam07264
    Location:120254
    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: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    125569216..125584684
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    E9PK61
    Related
    ENSP00000431633.3, ENST00000527235.6
    Conserved Domains (1) summary
    pfam07264
    Location:120222
    EI24; Etoposide-induced protein 2.4 (EI24)
  2. XM_011543069.2XP_011541371.1  etoposide-induced protein 2.4 homolog isoform X1

    See identical proteins and their annotated locations for XP_011541371.1

    UniProtKB/Swiss-Prot
    O14681
    UniProtKB/TrEMBL
    A0A024R3I8
    Related
    ENSP00000484510.1, ENST00000620753.4
    Conserved Domains (1) summary
    pfam07264
    Location:120254
    EI24; Etoposide-induced protein 2.4 (EI24)

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.
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