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

Gene ID: 57535, updated on 2-Nov-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
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Genomic context

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See ELAPOR1 in Genome Data Viewer
Location:
1p13.3
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (109114115..109206781)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (109146975..109239594)
RS_2024_09 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 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. 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
  2. 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
  3. 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
  4. 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
  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 (30) 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)

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 
enables protein binding IPI
Inferred from Physical Interaction
more info
 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_2024_08

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

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