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    ENOX1 ecto-NOX disulfide-thiol exchanger 1 [ Homo sapiens (human) ]

    Gene ID: 55068, updated on 9-Dec-2018

    Summary

    Official Symbol
    ENOX1provided by HGNC
    Official Full Name
    ecto-NOX disulfide-thiol exchanger 1provided by HGNC
    Primary source
    HGNC:HGNC:25474
    See related
    Ensembl:ENSG00000120658 MIM:610914
    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
    CNOX; PIG38; cCNOX; bA64J21.1
    Summary
    The protein encoded by this gene is involved in plasma membrane electron transport pathways. The encoded protein has both a hydroquinone (NADH) oxidase activity and a protein disulfide-thiol interchange activity. The two activities cycle with a periodicity of 24 minutes, with one activity being at its peak when the other is at its lowest. [provided by RefSeq, Dec 2016]
    Expression
    Broad expression in testis (RPKM 1.9), brain (RPKM 1.3) and 19 other tissues See more
    Orthologs

    Genomic context

    See ENOX1 in Genome Data Viewer
    Location:
    13q14.11
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (43213133..43786980, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (43787335..44361116, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 400 Neighboring gene LINC00400 intron CAGE-defined mid-level expression enhancer Neighboring gene molybdenum cofactor synthesis 3 pseudogene 2 Neighboring gene ribosomal protein L36 pseudogene 19 Neighboring gene ENOX1 antisense RNA 2 Neighboring gene uncharacterized LOC105370181 Neighboring gene coiled-coil domain containing 122 Neighboring gene laccase domain containing 1

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
    NHGRI GWA Catalog
    Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.
    NHGRI GWA Catalog
    Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10094, FLJ30915

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    ultradian rhythm IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    ecto-NOX disulfide-thiol exchanger 1
    Names
    candidate growth-related and time keeping constitutive hydroquinone (NADH) oxidase
    candidate growth-related and time keeping constitutive hydroquinone [NADH] oxidase
    cell proliferation-inducing gene 38 protein
    constitutive Ecto-NOX
    ecto-NADPH oxidase disulfide-thiol exchanger 1

    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_052843.1 RefSeqGene

      Range
      5001..578848
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127615.2NP_001121087.1  ecto-NOX disulfide-thiol exchanger 1 isoform b

      See identical proteins and their annotated locations for NP_001121087.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 10. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 1-9 all encode the same isoform (b).
      Source sequence(s)
      AL136959, AL138823, AL161714, AL607148, AL627430
      Consensus CDS
      CCDS9389.1
      UniProtKB/Swiss-Prot
      Q8TC92
      UniProtKB/TrEMBL
      A0A024RDT8
      Conserved Domains (2) summary
      cd12228
      Location:136219
      RRM_ENOX; RNA recognition motif (RRM) in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
      cl25732
      Location:261582
      SMC_N; RecF/RecN/SMC N terminal domain
    2. NM_001242863.2NP_001229792.1  ecto-NOX disulfide-thiol exchanger 1 isoform b

      See identical proteins and their annotated locations for NP_001229792.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 10. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 1-9 all encode the same isoform (b).
      Source sequence(s)
      AL136959, AL138823, AL161714, AL162713, AL607148, AL627430
      Consensus CDS
      CCDS9389.1
      UniProtKB/Swiss-Prot
      Q8TC92
      UniProtKB/TrEMBL
      A0A024RDT8
      Conserved Domains (2) summary
      cd12228
      Location:136219
      RRM_ENOX; RNA recognition motif (RRM) in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
      cl25732
      Location:261582
      SMC_N; RecF/RecN/SMC N terminal domain
    3. NM_001347963.1NP_001334892.1  ecto-NOX disulfide-thiol exchanger 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) encodes the longest isoform (a).
      Source sequence(s)
      AL138823, AL161714, AL162713, AL607148, AL627430
    4. NM_001347964.1NP_001334893.1  ecto-NOX disulfide-thiol exchanger 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 10. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 1-9 all encode the same isoform (b).
      Source sequence(s)
      AL136959, AL138823, AL161714, AL162713, AL607148, AL627430
      Consensus CDS
      CCDS9389.1
      UniProtKB/Swiss-Prot
      Q8TC92
      UniProtKB/TrEMBL
      A0A024RDT8
      Conserved Domains (2) summary
      cd12228
      Location:136219
      RRM_ENOX; RNA recognition motif (RRM) in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
      cl25732
      Location:261582
      SMC_N; RecF/RecN/SMC N terminal domain
    5. NM_001347965.1NP_001334894.1  ecto-NOX disulfide-thiol exchanger 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 10. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 1-9 all encode the same isoform (b).
      Source sequence(s)
      AL136959, AL138823, AL162713, AL607148, AL627430
      Consensus CDS
      CCDS9389.1
      UniProtKB/Swiss-Prot
      Q8TC92
      UniProtKB/TrEMBL
      A0A024RDT8
      Conserved Domains (2) summary
      cd12228
      Location:136219
      RRM_ENOX; RNA recognition motif (RRM) in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
      cl25732
      Location:261582
      SMC_N; RecF/RecN/SMC N terminal domain
    6. NM_001347966.1NP_001334895.1  ecto-NOX disulfide-thiol exchanger 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence compared to variant 10. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 1-9 all encode the same isoform (b).
      Source sequence(s)
      AL136959, AL138823, AL161714, AL162713, AL607148, AL627430
      Consensus CDS
      CCDS9389.1
      UniProtKB/Swiss-Prot
      Q8TC92
      UniProtKB/TrEMBL
      A0A024RDT8
      Conserved Domains (2) summary
      cd12228
      Location:136219
      RRM_ENOX; RNA recognition motif (RRM) in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
      cl25732
      Location:261582
      SMC_N; RecF/RecN/SMC N terminal domain
    7. NM_001347967.1NP_001334896.1  ecto-NOX disulfide-thiol exchanger 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence compared to variant 10. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 1-9 all encode the same isoform (b).
      Source sequence(s)
      AL138823, AL161714, AL162713, AL607148, AL627430
      Consensus CDS
      CCDS9389.1
      UniProtKB/Swiss-Prot
      Q8TC92
      UniProtKB/TrEMBL
      A0A024RDT8
      Conserved Domains (2) summary
      cd12228
      Location:136219
      RRM_ENOX; RNA recognition motif (RRM) in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
      cl25732
      Location:261582
      SMC_N; RecF/RecN/SMC N terminal domain
    8. NM_001347968.1NP_001334897.1  ecto-NOX disulfide-thiol exchanger 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR and coding sequence compared to variant 10. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 1-9 all encode the same isoform (b).
      Source sequence(s)
      AL136959, AL138823, AL161714, AL162713, AL607148, AL627430
      Consensus CDS
      CCDS9389.1
      UniProtKB/Swiss-Prot
      Q8TC92
      UniProtKB/TrEMBL
      A0A024RDT8
      Conserved Domains (2) summary
      cd12228
      Location:136219
      RRM_ENOX; RNA recognition motif (RRM) in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
      cl25732
      Location:261582
      SMC_N; RecF/RecN/SMC N terminal domain
    9. NM_001347969.1NP_001334898.1  ecto-NOX disulfide-thiol exchanger 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR and coding sequence compared to variant 10. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 1-9 all encode the same isoform (b).
      Source sequence(s)
      AL136959, AL138823, AL161714, AL162713, AL607148, AL627430
      Consensus CDS
      CCDS9389.1
      UniProtKB/Swiss-Prot
      Q8TC92
      UniProtKB/TrEMBL
      A0A024RDT8
      Conserved Domains (2) summary
      cd12228
      Location:136219
      RRM_ENOX; RNA recognition motif (RRM) in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
      cl25732
      Location:261582
      SMC_N; RecF/RecN/SMC N terminal domain
    10. NM_001347970.1NP_001334899.1  ecto-NOX disulfide-thiol exchanger 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR and coding sequence compared to variant 10. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 11 and 12 both encode the same isoform (c).
      Source sequence(s)
      AL136959, AL138823, AL161714, AL162713, AL607148, AL627430
      UniProtKB/TrEMBL
      A0A024RDX6
      Conserved Domains (2) summary
      cd12228
      Location:97180
      RRM_ENOX; RNA recognition motif (RRM) in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
      cl25732
      Location:222543
      SMC_N; RecF/RecN/SMC N terminal domain
    11. NM_001347971.1NP_001334900.1  ecto-NOX disulfide-thiol exchanger 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) differs in the 5' UTR and coding sequence compared to variant 10. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 11 and 12 both encode the same isoform (c).
      Source sequence(s)
      AL136959, AL138823, AL161714, AL162713, AL607148, AL627430
      UniProtKB/TrEMBL
      A0A024RDX6
      Conserved Domains (2) summary
      cd12228
      Location:97180
      RRM_ENOX; RNA recognition motif (RRM) in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
      cl25732
      Location:222543
      SMC_N; RecF/RecN/SMC N terminal domain
    12. NM_017993.4NP_060463.2  ecto-NOX disulfide-thiol exchanger 1 isoform b

      See identical proteins and their annotated locations for NP_060463.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and coding sequence compared to variant 10. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 1-9 all encode the same isoform (b).
      Source sequence(s)
      AL136959, AL138823, AL161714, AL162713, AL607148, AL627430
      Consensus CDS
      CCDS9389.1
      UniProtKB/Swiss-Prot
      Q8TC92
      UniProtKB/TrEMBL
      A0A024RDT8
      Related
      ENSP00000261488.6, ENST00000261488.10
      Conserved Domains (2) summary
      cd12228
      Location:136219
      RRM_ENOX; RNA recognition motif (RRM) in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
      cl25732
      Location:261582
      SMC_N; RecF/RecN/SMC N terminal domain

    RNA

    1. NR_145132.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL162713

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

      Range
      43213133..43786980 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535127.3XP_011533429.1  ecto-NOX disulfide-thiol exchanger 1 isoform X1

      See identical proteins and their annotated locations for XP_011533429.1

      UniProtKB/Swiss-Prot
      Q8TC92
      UniProtKB/TrEMBL
      A0A024RDT8
      Conserved Domains (2) summary
      cd12228
      Location:136219
      RRM_ENOX; RNA recognition motif (RRM) in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
      cl25732
      Location:261582
      SMC_N; RecF/RecN/SMC N terminal domain
    2. XM_024449373.1XP_024305141.1  ecto-NOX disulfide-thiol exchanger 1 isoform X1

      Conserved Domains (2) summary
      cd12228
      Location:136219
      RRM_ENOX; RNA recognition motif (RRM) in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
      cl25732
      Location:261582
      SMC_N; RecF/RecN/SMC N terminal domain
    3. XM_017020637.2XP_016876126.1  ecto-NOX disulfide-thiol exchanger 1 isoform X1

      UniProtKB/Swiss-Prot
      Q8TC92
      UniProtKB/TrEMBL
      A0A024RDT8
      Conserved Domains (2) summary
      cd12228
      Location:136219
      RRM_ENOX; RNA recognition motif (RRM) in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
      cl25732
      Location:261582
      SMC_N; RecF/RecN/SMC N terminal domain
    4. XM_024449372.1XP_024305140.1  ecto-NOX disulfide-thiol exchanger 1 isoform X1

      Conserved Domains (2) summary
      cd12228
      Location:136219
      RRM_ENOX; RNA recognition motif (RRM) in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
      cl25732
      Location:261582
      SMC_N; RecF/RecN/SMC N terminal domain
    5. XM_024449371.1XP_024305139.1  ecto-NOX disulfide-thiol exchanger 1 isoform X1

      Conserved Domains (2) summary
      cd12228
      Location:136219
      RRM_ENOX; RNA recognition motif (RRM) in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
      cl25732
      Location:261582
      SMC_N; RecF/RecN/SMC N terminal domain
    6. XM_011535126.3XP_011533428.1  ecto-NOX disulfide-thiol exchanger 1 isoform X1

      See identical proteins and their annotated locations for XP_011533428.1

      UniProtKB/Swiss-Prot
      Q8TC92
      UniProtKB/TrEMBL
      A0A024RDT8
      Conserved Domains (2) summary
      cd12228
      Location:136219
      RRM_ENOX; RNA recognition motif (RRM) in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
      cl25732
      Location:261582
      SMC_N; RecF/RecN/SMC N terminal domain
    7. XM_024449374.1XP_024305142.1  ecto-NOX disulfide-thiol exchanger 1 isoform X1

      Conserved Domains (2) summary
      cd12228
      Location:136219
      RRM_ENOX; RNA recognition motif (RRM) in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
      cl25732
      Location:261582
      SMC_N; RecF/RecN/SMC N terminal domain
    8. XM_017020641.2XP_016876130.1  ecto-NOX disulfide-thiol exchanger 1 isoform X2

    9. XM_017020642.2XP_016876131.1  ecto-NOX disulfide-thiol exchanger 1 isoform X3

    RNA

    1. XR_001749593.2 RNA Sequence

    2. XR_001749594.1 RNA Sequence

    3. XR_001749592.2 RNA Sequence

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