1. Gene
  2. NOXO1 - NADPH oxidase organizer 1 Gene

NOXO1 - NADPH oxidase organizer 1 Gene

Homo sapiens

Also known as SNX28; P41NOX; P41NOXA; P41NOXB; P41NOXC; SH3PXD5

Gene ID: 124056 | Gene type: protein coding

About NOXO1

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:1,978,917-1,981,469 (from NCBI)

This gene has 7 transcripts (splice variants), 283 orthologues and 3 paralogues. Broad expression in colon (RPKM 2.7), appendix (RPKM 0.9) and 14 other tissues.

Summary

This gene encodes an NADPH Oxidase (NOX) organizer, which positively regulates NOX1 and NOX3. The protein contains a PX domain and two SH3 domains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]

NOXO1 Products(4)

mRNA Protein Name
NM_001267721.2 NP_001254650.1 NADPH oxidase organizer 1 isoform d
NM_144603.4 NP_653204.1 NADPH oxidase organizer 1 isoform a
NM_172167.3 NP_751907.1 NADPH oxidase organizer 1 isoform b
NM_172168.3 NP_751908.1 NADPH oxidase organizer 1 isoform c

NOXO1 Protein Structure

PX

PX: PX domain (21 - 125)

SH3_1

SH3_1: SH3 domain (247 - 288)

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  • 376 a.a.
Protein Preferred Names Protein Names

NADPH oxidase organizer 1

NADPH oxidase regulatory protein

Related Diseases

Diseases Alias
Lung Mucoepidermoid Carcinoma

Mucoepidermoid Carcinoma Of Lung

Phagocyte Bactericidal Dysfunction

Phagocytic Dysfunction

Granulomatous Disease, Chronic, Autosomal Recessive, 1

Chronic Granulomatous Disease Due To Deficiency Of Ncf-1

CGD1

Ncf1 Deficiency

Soluble Oxidase Component Ii Deficiency

Soc2 Deficiency

P47-Phox Deficiency

Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type I

Deficiency Of Neutrophil Cytosol Factor 1

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 1

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I

Cgd, Autosomal Recessive Cytochrome B-Positive, Type I

Granulomatous Disease, Chronic, Due To Ncf1 Deficiency

Neutrophil Cytosol Factor 1 Deficiency

Chronic Granulomatous Disease 1, Autosomal Recessive

Autosomal Recessive Chronic Granulomatous Disease 1

Cdg1

Deficiency Of Ncf1

Deficiency Of P47-Phox

Deficiency Of Soc2

Deficiency Of Soluble Oxidase Component Ii

Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type I

Chronic Granulomatous Disease Due To Ncf1 Deficiency

Chronic Granulomatous Disease

Cgd

Granulomatous Disease, Chronic

Autosomal Recessive Chronic Granulomatous Disease

X-Linked Chronic Granulomatous Disease

Bridges-Good Syndrome

Congenital Dysphagocytosis

Quie Syndrome

Chronic Septic Granulomatosis

Chronic Granulomatous Disorder

Granulomatous Disease Chronic

Granulomatous Disease, Chronic, X-Linked

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus NOXO1 RGD RGD:1307802
Bos taurus NOXO1 VGNC VGNC:32187
Canis familiaris NOXO1 VGNC VGNC:43907
Macaca mulatta NOXO1 VGNC VGNC:75215
Felis catus NOXO1 VGNC VGNC:82349
Mus musculus NOXO1 MGD MGI:1919143