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    ELAPOR1 endosome-lysosome associated apoptosis and autophagy regulator 1 [ Homo sapiens (human) ]

    Gene ID: 57535, updated on 11-Apr-2024

    Summary

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    Official Symbol
    ELAPOR1provided by HGNC
    Official Full Name
    endosome-lysosome associated apoptosis and autophagy regulator 1provided by HGNC
    Primary source
    HGNC:HGNC:29618
    See related
    Ensembl:ENSG00000116299 MIM:611298; AllianceGenome:HGNC:29618
    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
    EIG121; KIAA1324
    Summary
    Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
    Expression
    Biased expression in stomach (RPKM 32.4), salivary gland (RPKM 26.9) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1p13.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (109114115..109206781)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (109146975..109239594)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (109656737..109749403)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene poly(rC) binding protein 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1142 Neighboring gene cilia and flagella associated protein 276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1436 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:109739959-109741158 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1437 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:109767996-109768680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:109768681-109769365 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109772336-109773132 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109773133-109773930 Neighboring gene seryl-tRNA synthetase 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:109779623-109780822 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:109781947-109782361 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109782763-109783458 Neighboring gene Sharpr-MPRA regulatory region 12007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:109785117-109785616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109791478-109792198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1145 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:109793618-109793808 Neighboring gene VISTA enhancer hs2216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:109802367-109802915 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:109803429-109803928 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109806365-109807347 Neighboring gene cadherin EGF LAG seven-pass G-type receptor 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:109807766-109807952 Neighboring gene VISTA enhancer hs2263

    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
    • 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. Autophagy plays an important role in stemness mediation and the novel dual function of EIG121 in both autophagy and stemness regulation of endometrial carcinoma JEC cells. Ran X, et al. Int J Oncol, 2017 Aug. PMID 28656197
    2. A novel polymorphic repeat in the upstream regulatory region of the estrogen-induced gene EIG121 is not associated with the risk of developing breast or endometrial cancer. Bolton KA, et al. BMC Res Notes, 2016 May 26. PMID 27230222, Free PMC Article
    3. Identification of a novel estrogen-regulated gene, EIG121, induced by hormone replacement therapy and differentially expressed in type I and type II endometrial cancer. Deng L, et al. Clin Cancer Res, 2005 Dec 1. PMID 16322283
    4. Different transcriptional expression of KIAA1324 and its splicing variants in human carcinoma cell lines with different metastatic capacity. Bauer M, et al. Oncol Rep, 2004 Mar. PMID 14767521
    5. ELAPOR1 is a secretory granule maturation-promoting factor that is lost during paligenosis. Cho CJ, et al. Am J Physiol Gastrointest Liver Physiol, 2022 Jan 1. PMID 34816763, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ELAPOR1 is a secretory granule maturation-promoting factor that is lost during paligenosis.
      Title: ELAPOR1 is a secretory granule maturation-promoting factor that is lost during paligenosis.
    2. Prognostic role of TSPAN1, KIAA1324 and ESRP1 in prostate cancer.
      Title: Prognostic role of TSPAN1, KIAA1324 and ESRP1 in prostate cancer.
    3. Inceptor counteracts insulin signalling in beta-cells to control glycaemia.
      Title: Inceptor counteracts insulin signalling in β-cells to control glycaemia.
    4. Altered Expression of Three EGFR Posttranslational Regulators MDGI, MIG6, and EIG121 in Invasive Breast Carcinomas.
      Title: Altered Expression of Three EGFR Posttranslational Regulators MDGI, MIG6, and EIG121 in Invasive Breast Carcinomas.
    5. it was found that EIG121 exerted dual functions in the regulation of autophagy and stemness not only in normal JEC cells but also JEC obtained CSCs. These findings could be useful for developing targeted therapies for endometrial carcinoma
      Title: Autophagy plays an important role in stemness mediation and the novel dual function of EIG121 in both autophagy and stemness regulation of endometrial carcinoma JEC cells.
    6. The STR in the upstream regulatory region of EIG121 is highly polymorphic, but is not associated with the risk of developing breast or endometrial cancer in the cohorts analysed here
      Title: A novel polymorphic repeat in the upstream regulatory region of the estrogen-induced gene EIG121 is not associated with the risk of developing breast or endometrial cancer.
    7. A tumor suppressive role of KIAA1324 via inhibition of GRP78 oncoprotein activities in gastric cancer
      Title: KIAA1324 Suppresses Gastric Cancer Progression by Inhibiting the Oncoprotein GRP78.
    8. EIG121 may protect cells from cell death by upregulating the autophagy pathway.
      Title: The novel estrogen-induced gene EIG121 regulates autophagy and promotes cell survival under stress.
    9. High expression of ERalpha and the estrogen-induced gene EIG121 predicts shorter overall survival in patients with high-grade serous ovarian carcinoma.
      Title: Molecular clustering based on ERα and EIG121 predicts survival in high-grade serous carcinoma of the ovary/peritoneum.
    10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC150624

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    Process Evidence Code Pubs
    involved_in autophagosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in autophagosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to starvation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of autophagosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of vacuole organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of vacuole organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    colocalizes_with late endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with late endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    endosome/lysosome-associated apoptosis and autophagy regulator 1
    Names
    estrogen-induced gene 121 protein
    maba1

    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_032763.2 RefSeqGene

      Range
      5002..97668
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001267048.2 → NP_001253977.2  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region and lacks two alternate in-frame exons in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AL138933, AL356389
      Consensus CDS
      CCDS58015.1
      UniProtKB/TrEMBL
      E9PB18
      Related
      ENSP00000434595.1, ENST00000529753.5
      Conserved Domains (1) summary
      pfam07562
      Location:294 → 330
      NCD3G; Nine Cysteines Domain of family 3 GPCR

    2. NM_001284352.2 → NP_001271281.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, and also uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (4) with a shorter N-terminus and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK297221, AL138933, AL356389, BQ101251, CD108482, CD360008
      UniProtKB/TrEMBL
      B4DLZ2
      Conserved Domains (2) summary
      pfam07699
      Location:170 → 209
      GCC2_GCC3; GCC2 and GCC3
      cl22855
      Location:271 → 319
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)

    3. NM_001284353.2 → NP_001271282.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents use of an alternate promoter, and thus differs in the 5' UTR and 5' coding region. These differences cause translation initiation at an alternate start codon and result in an isoform (5) with a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK122934, AL356389, BQ101251
      UniProtKB/TrEMBL
      B4DWM4
      Conserved Domains (2) summary
      pfam00878
      Location:473 → 525
      CIMR; Cation-independent mannose-6-phosphate receptor repeat
      cl22855
      Location:35 → 83
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)

    4. NM_020775.5 → NP_065826.3  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
      Source sequence(s)
      AL138933, AL356389
      Consensus CDS
      CCDS794.1
      UniProtKB/Swiss-Prot
      Q08AE6, Q5T5C9, Q5T5D0, Q5T5D1, Q6UXG2, Q9P2M2
      UniProtKB/TrEMBL
      B4DMI7
      Related
      ENSP00000358955.3, ENST00000369939.8
      Conserved Domains (2) summary
      pfam07562
      Location:381 → 417
      NCD3G; Nine Cysteines Domain of family 3 GPCR
      cl28643
      Location:275 → 414
      VSP; Giardia variant-specific surface protein

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      109114115..109206781
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541825.3 → XP_011540127.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform X1

      UniProtKB/TrEMBL
      B4DMI7
      Conserved Domains (3) summary
      pfam00878
      Location:811 → 863
      CIMR; Cation-independent mannose-6-phosphate receptor repeat
      pfam07699
      Location:272 → 311
      GCC2_GCC3; GCC2 and GCC3
      cl22855
      Location:373 → 421
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)

    2. XM_011541827.3 → XP_011540129.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform X3

      UniProtKB/TrEMBL
      E9PB18
      Conserved Domains (2) summary
      pfam00878
      Location:761 → 813
      CIMR; Cation-independent mannose-6-phosphate receptor repeat
      cl22855
      Location:323 → 371
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)

    3. XM_011541826.4 → XP_011540128.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform X2

      UniProtKB/TrEMBL
      B4DMI7
      Related
      ENSP00000393964.2, ENST00000457623.6
      Conserved Domains (3) summary
      pfam00878
      Location:811 → 863
      CIMR; Cation-independent mannose-6-phosphate receptor repeat
      pfam07699
      Location:272 → 311
      GCC2_GCC3; GCC2 and GCC3
      cl22855
      Location:373 → 421
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)

    4. XM_047426133.1 → XP_047282089.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform X4

      Related
      ENST00000369936.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      109146975..109239594
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337818.1 → XP_054193793.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform X1

    2. XM_054337820.1 → XP_054193795.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform X3

    3. XM_054337819.1 → XP_054193794.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform X2

    4. XM_054337821.1 → XP_054193796.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform X4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001267049.1: Suppressed sequence

      Description
      NM_001267049.1: 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
    Q6UXG2.2 GenPept UniProtKB/Swiss-Prot:Q6UXG2

    Gene LinkOut

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

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