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

    Gene ID: 57535, updated on 3-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    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

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    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_032763.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001267048.2NP_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:294330
      NCD3G; Nine Cysteines Domain of family 3 GPCR
    2. NM_001284352.2NP_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:170209
      GCC2_GCC3; GCC2 and GCC3
      cl22855
      Location:271319
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
    3. NM_001284353.2NP_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:473525
      CIMR; Cation-independent mannose-6-phosphate receptor repeat
      cl22855
      Location:3583
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
    4. NM_020775.5NP_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:381417
      NCD3G; Nine Cysteines Domain of family 3 GPCR
      cl28643
      Location:275414
      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_011541825.3XP_011540127.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform X1

      UniProtKB/TrEMBL
      B4DMI7
      Conserved Domains (3) summary
      pfam00878
      Location:811863
      CIMR; Cation-independent mannose-6-phosphate receptor repeat
      pfam07699
      Location:272311
      GCC2_GCC3; GCC2 and GCC3
      cl22855
      Location:373421
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
    2. XM_011541827.3XP_011540129.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform X3

      UniProtKB/TrEMBL
      E9PB18
      Conserved Domains (2) summary
      pfam00878
      Location:761813
      CIMR; Cation-independent mannose-6-phosphate receptor repeat
      cl22855
      Location:323371
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
    3. XM_011541826.4XP_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:811863
      CIMR; Cation-independent mannose-6-phosphate receptor repeat
      pfam07699
      Location:272311
      GCC2_GCC3; GCC2 and GCC3
      cl22855
      Location:373421
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
    4. XM_047426133.1XP_047282089.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform X4

      UniProtKB/TrEMBL
      B4DWM4
      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_054337818.1XP_054193793.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform X1

      UniProtKB/TrEMBL
      B4DMI7
    2. XM_054337820.1XP_054193795.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform X3

      UniProtKB/TrEMBL
      E9PB18
    3. XM_054337819.1XP_054193794.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform X2

      UniProtKB/TrEMBL
      B4DMI7
    4. XM_054337821.1XP_054193796.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform X4

      UniProtKB/TrEMBL
      B4DWM4

    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.