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    EOLA1 endothelium and lymphocyte associated ASCH domain 1 [ Homo sapiens (human) ]

    Gene ID: 91966, updated on 10-Dec-2024

    Summary

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    Official Symbol
    EOLA1provided by HGNC
    Official Full Name
    endothelium and lymphocyte associated ASCH domain 1provided by HGNC
    Primary source
    HGNC:HGNC:28089
    See related
    Ensembl:ENSG00000197620 MIM:300954; AllianceGenome:HGNC:28089
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CXorf40; CXorf40A
    Summary
    Involved in regulation of interleukin-6 production. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 8.2), bone marrow (RPKM 2.5) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See EOLA1 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (149540601..149555345)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (147806368..147821110)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (148622146..148636889)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene IDSP1 recombination region Neighboring gene EOLA1 divergent transcript Neighboring gene iduronate 2-sulfatase pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21043 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:148621960-148622150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30016 Neighboring gene heat shock transcription factor family, X-linked member 3 Neighboring gene MAGE family member A9B Neighboring gene heat shock transcription factor family, X-linked 2

    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. Cell-surface expression of transrearranged Vgamma-cbeta T-cell receptor chains in healthy donors and in ataxia telangiectasia patients. Hinz T, et al. Br J Haematol, 2000 Apr. PMID 10848801
    2. Crystal Structure of Human EOLA1 Implies Its Possibility of RNA Binding. Kim M, et al. Molecules, 2019 Sep 29. PMID 31569543, Free PMC Article
    3. The Reduced Expression of EOLA1 May Be Related to Refractory Diabetic Foot Ulcer. Wu M, et al. Mediators Inflamm, 2019. PMID 31007603, Free PMC Article
    4. EOLA1 protects lipopolysaccharide induced IL-6 production and apoptosis by regulation of MT2A in human umbilical vein endothelial cells. Liu Y, et al. Mol Cell Biochem, 2014 Oct. PMID 24916366, Free PMC Article
    5. [Subcellular localization of human endothelial-overexpressed lipopolysaccharide-associated factor 1 protein]. Luo M, et al. Zhonghua Shao Shang Za Zhi, 2010 Dec. PMID 21223654

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The results of immunofluorescence and immunohistochemistry showed that EOLA1 was expressed in the epithelial tissues of Diabetic Foot Ulcer.
      Title: The Reduced Expression of EOLA1 May Be Related to Refractory Diabetic Foot Ulcer.
    2. Data shows that EOLA1 in HUVEC dramatically decreased inflammation factor IL-6 production and apoptosis induced by LPS treatment.
      Title: EOLA1 protects lipopolysaccharide induced IL-6 production and apoptosis by regulation of MT2A in human umbilical vein endothelial cells.
    3. EOLA1 protein is localized in the nucleus and the matrix of ECV304 cells, and it plays a role as a signal transduction factor.
      Title: [Subcellular localization of human endothelial-overexpressed lipopolysaccharide-associated factor 1 protein].
    4. effect of inhibiting the expression of endothelial-overexpressed lipopolysaccharide-associated factor 1 (EOLA1) on proliferation of human umbilical vein endothelial cell line ECV304
      Title: [The effect of inhibiting EOLA1 expression in ECV304 cells].
    5. Findings suggest that EOLA1 is a novel gene and the interaction of EOLA1 and MT2A may play an important role in cell protection in inflammation reaction.
      Title: [Identification and characterization of a novel gene EOLA1 stimulating ECV304 cell proliferation].
    6. EOLA1 and MT2A may have an important role of cell protection in inflammation reaction.
      Title: Identification and characterization of a novel gene EOLA1 stimulating ECV304 cell proliferation.
    Submit: New GeneRIF Correction

    Phenotypes

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    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

    • FLJ16423, FLJ52212

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of interleukin-6 production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    protein EOLA1
    Names
    endothelial-overexpressed lipopolysaccharide-associated factor 1
    protein CXorf40A

    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.

    mRNA and Protein(s)

    1. NM_001171907.3 → NP_001165378.1  protein EOLA1 isoform a

      See identical proteins and their annotated locations for NP_001165378.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1.
      Source sequence(s)
      AI088770, AW952651, BC104930, BF115859, CB156531, DC426016, L43576
      Consensus CDS
      CCDS14687.1
      UniProtKB/Swiss-Prot
      A0A0A0MTB5, A8K784, B7Z6H6, B7ZL96, D6RA72, E7ENU3, Q2M3E9, Q8TE69
      UniProtKB/TrEMBL
      S4R3G8
      Related
      ENSP00000421745.1, ENST00000393985.8
      Conserved Domains (1) summary
      smart01022
      Location:6 → 114
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    2. NM_001171908.3 → NP_001165379.1  protein EOLA1 isoform a

      See identical proteins and their annotated locations for NP_001165379.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1.
      Source sequence(s)
      AI088770, AW952651, BC143662, BF115859, CB156531, DC426016, L43576
      Consensus CDS
      CCDS14687.1
      UniProtKB/Swiss-Prot
      A0A0A0MTB5, A8K784, B7Z6H6, B7ZL96, D6RA72, E7ENU3, Q2M3E9, Q8TE69
      UniProtKB/TrEMBL
      S4R3G8
      Related
      ENSP00000425520.1, ENST00000423540.6
      Conserved Domains (1) summary
      smart01022
      Location:6 → 114
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    3. NM_001171909.4 → NP_001165380.1  protein EOLA1 isoform b

      See identical proteins and their annotated locations for NP_001165380.1

      Status: VALIDATED

      Source sequence(s)
      AC244197, AK300334, BC065539, CR984770
      Consensus CDS
      CCDS55522.1
      UniProtKB/TrEMBL
      S4R3G8
      Related
      ENSP00000422312.1, ENST00000422892.2
      Conserved Domains (1) summary
      smart01022
      Location:6 → 114
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    4. NM_001324274.2 → NP_001311203.1  protein EOLA1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AC244197, BG105508, DC339764
      Consensus CDS
      CCDS14687.1
      UniProtKB/Swiss-Prot
      A0A0A0MTB5, A8K784, B7Z6H6, B7ZL96, D6RA72, E7ENU3, Q2M3E9, Q8TE69
      UniProtKB/TrEMBL
      S4R3G8
      Related
      ENSP00000427540.1, ENST00000450602.6
      Conserved Domains (1) summary
      smart01022
      Location:6 → 114
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    5. NM_001324275.2 → NP_001311204.1  protein EOLA1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AC244197, BG105508, BI819316
      Consensus CDS
      CCDS14687.1
      UniProtKB/Swiss-Prot
      A0A0A0MTB5, A8K784, B7Z6H6, B7ZL96, D6RA72, E7ENU3, Q2M3E9, Q8TE69
      UniProtKB/TrEMBL
      S4R3G8
      Conserved Domains (1) summary
      smart01022
      Location:6 → 114
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    6. NM_001324276.2 → NP_001311205.1  protein EOLA1 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC244197
      Consensus CDS
      CCDS55522.1
      UniProtKB/TrEMBL
      S4R3G8
      Related
      ENSP00000423160.1, ENST00000434353.6
      Conserved Domains (1) summary
      smart01022
      Location:6 → 114
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    7. NM_001324277.2 → NP_001311206.1  protein EOLA1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AC244197
      Consensus CDS
      CCDS14687.1
      UniProtKB/Swiss-Prot
      A0A0A0MTB5, A8K784, B7Z6H6, B7ZL96, D6RA72, E7ENU3, Q2M3E9, Q8TE69
      UniProtKB/TrEMBL
      S4R3G8
      Related
      ENSP00000423099.1, ENST00000441248.5
      Conserved Domains (1) summary
      smart01022
      Location:6 → 114
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    8. NM_001324278.2 → NP_001311207.1  protein EOLA1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AC244197
      Consensus CDS
      CCDS14687.1
      UniProtKB/Swiss-Prot
      A0A0A0MTB5, A8K784, B7Z6H6, B7ZL96, D6RA72, E7ENU3, Q2M3E9, Q8TE69
      UniProtKB/TrEMBL
      S4R3G8
      Conserved Domains (1) summary
      smart01022
      Location:6 → 114
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    9. NM_001324279.2 → NP_001311208.1  protein EOLA1 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC244197
      Consensus CDS
      CCDS55522.1
      UniProtKB/TrEMBL
      S4R3G8
      Related
      ENSP00000423708.1, ENST00000514208.5
      Conserved Domains (1) summary
      smart01022
      Location:6 → 114
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    10. NM_001324280.2 → NP_001311209.1  protein EOLA1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AC244197
      Consensus CDS
      CCDS14687.1
      UniProtKB/Swiss-Prot
      A0A0A0MTB5, A8K784, B7Z6H6, B7ZL96, D6RA72, E7ENU3, Q2M3E9, Q8TE69
      UniProtKB/TrEMBL
      S4R3G8
      Conserved Domains (1) summary
      smart01022
      Location:6 → 114
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    11. NM_178124.6 → NP_835225.2  protein EOLA1 isoform a

      See identical proteins and their annotated locations for NP_835225.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AI088770, AW952651, BC065539, BF115859, CB156531, DC426016, L43576
      Consensus CDS
      CCDS14687.1
      UniProtKB/Swiss-Prot
      A0A0A0MTB5, A8K784, B7Z6H6, B7ZL96, D6RA72, E7ENU3, Q2M3E9, Q8TE69
      UniProtKB/TrEMBL
      S4R3G8
      Related
      ENSP00000422512.1, ENST00000423421.5
      Conserved Domains (1) summary
      smart01022
      Location:6 → 114
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      149540601..149555345
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442629.1 → XP_047298585.1  protein EOLA1 isoform X1

    2. XM_047442630.1 → XP_047298586.1  protein EOLA1 isoform X2

      UniProtKB/TrEMBL
      B7Z1Z8

    3. XM_005262349.5 → XP_005262406.3  protein EOLA1 isoform X3

      UniProtKB/TrEMBL
      B7Z1Z8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      147806368..147821110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328105.1 → XP_054184080.1  protein EOLA1 isoform X1

    2. XM_054328106.1 → XP_054184081.1  protein EOLA1 isoform X2

      UniProtKB/TrEMBL
      B7Z1Z8

    3. XM_054328107.1 → XP_054184082.1  protein EOLA1 isoform X3

      UniProtKB/TrEMBL
      B7Z1Z8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TE69.3 GenPept UniProtKB/Swiss-Prot:Q8TE69

    Gene LinkOut

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