ENOX1 (ecto-NOX disulfide-thiol exchanger 1)

Gene

• Entrez ID: 55068
• Gene name: Ecto-NOX disulfide-thiol exchanger 1
• Gene symbol: ENOX1
• Synonyms (NCBI Gene): CNOX, PIG38, bA64J21.1, cCNOX
• Chromosome: 13
• Chromosome location: 13q14.11
• 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 periodicit

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030280	hsa-miR-26b-5p	Microarray	19088304
MIRT450466	hsa-miR-5692a	PAR-CLIP	22100165
MIRT450465	hsa-miR-5692b	PAR-CLIP	22100165
MIRT450464	hsa-miR-5692c	PAR-CLIP	22100165
MIRT450463	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT450462	hsa-miR-3161	PAR-CLIP	22100165
MIRT450461	hsa-miR-599	PAR-CLIP	22100165
MIRT450466	hsa-miR-5692a	PAR-CLIP	22100165
MIRT450465	hsa-miR-5692b	PAR-CLIP	22100165
MIRT450464	hsa-miR-5692c	PAR-CLIP	22100165
MIRT450463	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT450462	hsa-miR-3161	PAR-CLIP	22100165
MIRT450461	hsa-miR-599	PAR-CLIP	22100165
MIRT963827	hsa-miR-3658	CLIP-seq
MIRT963828	hsa-miR-4528	CLIP-seq
MIRT963829	hsa-miR-4659a-5p	CLIP-seq
MIRT963830	hsa-miR-4659b-5p	CLIP-seq
MIRT963831	hsa-miR-4776-3p	CLIP-seq
MIRT963832	hsa-miR-221	CLIP-seq
MIRT963833	hsa-miR-222	CLIP-seq
MIRT963834	hsa-miR-4317	CLIP-seq
MIRT963835	hsa-miR-548v	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003756	Function	Protein disulfide isomerase activity	IBA
GO:0003756	Function	Protein disulfide isomerase activity	IDA	19055324
GO:0003954	Function	NADH dehydrogenase activity	IBA
GO:0003954	Function	NADH dehydrogenase activity	IDA	19055324
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0007624	Process	Ultradian rhythm	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0048511	Process	Rhythmic process	IEA

Other IDs

• MIM: 610914
• HGNC: 25474
• e!Ensembl: ENSG00000120658

Protein

• UniProt ID: Q8TC92
• Protein name: Ecto-NOX disulfide-thiol exchanger 1 (Candidate growth-related and time keeping constitutive hydroquinone [NADH] oxidase) (cCNOX) (Cell proliferation-inducing gene 38 protein) (Constitutive Ecto-NOX) (cNOX) [Includes: Hydroquinone [NADH] oxidase (EC 1.-.-
• Protein function: Probably acts as a terminal oxidase of plasma electron transport from cytosolic NAD(P)H via hydroquinones to acceptors at the cell surface. Hydroquinone oxidase activity alternates with a protein disulfide-thiol interchange/oxidoreductase activi
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00076	RRM_1	144 → 204	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in lymphocyte cells, breast and breast cancer (at protein level). Found in the sera of cancer patients with a wide variety of cancers including breast, prostate, lung and ovarian cancers, leukemias, and lymphomas. Found also
• Sequence:

  MVDAGGVENITQLPQELPQMMAAAADGLGSIAIDTTQLNMSVTDPTAWATAMNNLGMVPV
  GLPGQQLVSDSICVPGFDPSLNMMTGITPINPMIPGLGLVPPPPPTEVAVVKEIIHCKSC
  TLFPQNPNLPPPSTRERPPGCKTVFVGGLPENATEEIIQEVFEQCGDITAIRKSKKNFCH
  IRFAEEFMVDKAIYLSGYRMRLGSSTDKKDSGRLHVDFAQARDDFYEWECKQRMRAREER
  HRRKLEEDRLRPPSPPAIMHYSEHEAALLAEKLKDDSKFSEAITVLLSWIERGEVNRRSA
  NQFYSMVQSANSHVRRLMNEKATHEQEMEEAKENFKNALTGILTQFEQIVAVFNASTRQK
  AWDHFSKAQRKNIDIWRKHSEELRNAQSEQLMGIRREEEMEMSDDENCDSPTKKMRVDES
  ALAAQAYALKEENDSLRWQLDAYRNEVELLKQEKEQLFRTEENLTKDQQLQFLQQTMQGM
  QQQLLTIQEELNNKKSELEQAKEEQSHTQALLKVLQEQLKGTKELVETNGHSHEDSNEIN
  VLTVALVNQDRENNIEKRSQGLKSEKEALLIGIISTFLHVHPFGANIEYLWSYMQQLDSK
  ISANEIEMLLMRLPRMFKQEFTGVGATLEKRWKLCAFEGIKTT

• Sequence length: 643

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL VESSEL STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anxiety	Anxiety disorder	Pubtator	35301427	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23460240	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	32712615	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant compelling helio ophthalmic outburst syndrome	Achoo syndrome	GWASCAT_DG	27182965		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	36012217	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	32712615	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	36012217	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31662505		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	GWASDB_DG	21150874		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	31662505		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	24157943	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	24157943	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26973386		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	26973386		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASDB_DG	23377640		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	GWASCAT_DG	23377640, 29700475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19734121		★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	BEFREE	22744667		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	31662505		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	22491018		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	22491018		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	36012217	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations