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

Gene ID: 55068, updated on 23-Nov-2021

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
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Genomic context

See ENOX1 in Genome Data Viewer
Location:
13q14.11
Exon count:
28
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (43213130..43786976, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (43787266..44361108, 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
GeneReviews: Not available
Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.
GeneReviews: Not available
Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
GeneReviews: Not available

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
enables NADH dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein disulfide isomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein-disulfide reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in ultradian rhythm IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in 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)

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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_052843.1 RefSeqGene

    Range
    5009..578851
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127615.3NP_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
    TIGR02168
    Location:235582
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd12228
    Location:136219
    RRM_ENOX; RNA recognition motif (RRM) found in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
  2. NM_001242863.3NP_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
    TIGR02168
    Location:235582
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd12228
    Location:136219
    RRM_ENOX; RNA recognition motif (RRM) found in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
  3. NM_001347963.2NP_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_001347964.2NP_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
    TIGR02168
    Location:235582
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd12228
    Location:136219
    RRM_ENOX; RNA recognition motif (RRM) found in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
  5. NM_001347965.2NP_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
    TIGR02168
    Location:235582
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd12228
    Location:136219
    RRM_ENOX; RNA recognition motif (RRM) found in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
  6. NM_001347966.2NP_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
    TIGR02168
    Location:235582
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd12228
    Location:136219
    RRM_ENOX; RNA recognition motif (RRM) found in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
  7. NM_001347967.2NP_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
    TIGR02168
    Location:235582
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd12228
    Location:136219
    RRM_ENOX; RNA recognition motif (RRM) found in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
  8. NM_001347968.2NP_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
    TIGR02168
    Location:235582
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd12228
    Location:136219
    RRM_ENOX; RNA recognition motif (RRM) found in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
  9. NM_001347969.2NP_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
    TIGR02168
    Location:235582
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd12228
    Location:136219
    RRM_ENOX; RNA recognition motif (RRM) found in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
  10. NM_001347970.2NP_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
    TIGR02168
    Location:222543
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  11. NM_001347971.2NP_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
    TIGR02168
    Location:222543
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  12. NM_017993.5NP_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
    TIGR02168
    Location:235582
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd12228
    Location:136219
    RRM_ENOX; RNA recognition motif (RRM) found in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins

RNA

  1. NR_145132.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL162713

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    43213130..43786976 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
    TIGR02168
    Location:235582
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd12228
    Location:136219
    RRM_ENOX; RNA recognition motif (RRM) found in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
  2. XM_024449373.1XP_024305141.1  ecto-NOX disulfide-thiol exchanger 1 isoform X1

    Conserved Domains (2) summary
    TIGR02168
    Location:235582
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd12228
    Location:136219
    RRM_ENOX; RNA recognition motif (RRM) found in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
  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
    TIGR02168
    Location:235582
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd12228
    Location:136219
    RRM_ENOX; RNA recognition motif (RRM) found in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
  4. XM_024449372.1XP_024305140.1  ecto-NOX disulfide-thiol exchanger 1 isoform X1

    Conserved Domains (2) summary
    TIGR02168
    Location:235582
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd12228
    Location:136219
    RRM_ENOX; RNA recognition motif (RRM) found in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
  5. XM_024449371.1XP_024305139.1  ecto-NOX disulfide-thiol exchanger 1 isoform X1

    Conserved Domains (2) summary
    TIGR02168
    Location:235582
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd12228
    Location:136219
    RRM_ENOX; RNA recognition motif (RRM) found in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
  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
    TIGR02168
    Location:235582
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd12228
    Location:136219
    RRM_ENOX; RNA recognition motif (RRM) found in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
  7. XM_024449374.1XP_024305142.1  ecto-NOX disulfide-thiol exchanger 1 isoform X1

    Conserved Domains (2) summary
    TIGR02168
    Location:235582
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd12228
    Location:136219
    RRM_ENOX; RNA recognition motif (RRM) found in the cell surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or ENOX) proteins
  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

    Conserved Domains (1) summary
    smart00360
    Location:143200
    RRM; RNA recognition motif

RNA

  1. XR_001749593.2 RNA Sequence

  2. XR_001749594.1 RNA Sequence

  3. XR_001749592.2 RNA Sequence

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