NOXO1 NADPH oxidase organizer 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NOXO1provided by HGNC
Official Full Name: NADPH oxidase organizer 1provided by HGNC
Primary source: HGNC:HGNC:19404
See related: Ensembl:ENSG00000196408 MIM:611256; AllianceGenome:HGNC:19404
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: SNX28; P41NOX; P41NOXA; P41NOXB; P41NOXC; SH3PXD5
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]
Expression: Broad expression in colon (RPKM 2.7), appendix (RPKM 0.9) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (1978917..1981469, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (1998875..2001427, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (2028918..2031470, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DNA methylation of ICAM4 and NOXO1 participate in the formation of uterine fibroids via regulating immune cell infiltration.
Title: DNA methylation of ICAM4 and NOXO1 participate in the formation of uterine fibroids via regulating immune cell infiltration.
Overexpression of a Novel Noxo1 Mutant Increases Ros Production and Noxo1 Relocalisation.
Title: Overexpression of a Novel Noxo1 Mutant Increases Ros Production and Noxo1 Relocalisation.
CYLD destabilizes NoxO1 protein by promoting ubiquitination and regulates prostate cancer progression.
Title: CYLD destabilizes NoxO1 protein by promoting ubiquitination and regulates prostate cancer progression.
Tyrosine kinase substrate (Tks) proteins, analogous to the related proteins p47(phox), p40(phox) and NoxO1, also facilitate local generation of reactive oxygen species (ROS), which aid in signaling at invadopodia and/or podosomes to promote their activity. As their name suggests, Tks adaptor proteins are substrates for tyrosine kinases, especially Src. [review]
Title: Tks adaptor proteins at a glance.
PEDF protects human glomerular mesangial cells from diabetes-derived oxidative stress via NOXO1- iNOS suppression.
Title: Pigment epithelium‑derived factor protects human glomerular mesangial cells from diabetes via NOXO1‑iNOS suppression.
Data from pull-down assay between the Noxo1 and Noxa1 showed that the SH3 domains (Noxa1) is responsible for interaction with Noxo1 C-terminal tail harboring proline rich region.
Title: C-terminal tail of NADPH oxidase organizer 1 (Noxo1) mediates interaction with NADPH oxidase activator (Noxa1) in the NOX1 complex.
TNF-alpha/TNFR1 signaling promotes gastric tumorigenesis through induction of Noxo1 and Gna14 in tumor cells.
Title: TNF-α/TNFR1 signaling promotes gastric tumorigenesis through induction of Noxo1 and Gna14 in tumor cells.
Phosphorylation of Thr341 allows Noxo1 to sufficiently interact with Noxa1, an interaction that participates in Nox1 activation
Title: Phosphorylation of Noxo1 at threonine 341 regulates its interaction with Noxa1 and the superoxide-producing activity of Nox1.
Phorbol myristate acetate stimulates NOXO1 phosphorylation in a transfected human embryonic kidney (HEK) 293 epithelial cell model via protein kinase C and identify Ser-154 as the major phosphorylated site.
Title: NOXO1 phosphorylation on serine 154 is critical for optimal NADPH oxidase 1 assembly and activation.
Surface plasmon resonance experiments identify PtdIns(4,5)P(2) and PtdIns(3,4,5)P(3) as preferred targets of NOXO1beta PX.
Title: The NOXO1β PX domain preferentially targets PtdIns(4,5)P2 and PtdIns(3,4,5)P3.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphatidylinositol binding	IEA Inferred from Electronic Annotation more info
enables phospholipid binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables superoxide-generating NADPH oxidase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables superoxide-generating NADPH oxidase activator activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in extracellular matrix disassembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of hydrogen peroxide metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in regulation of respiratory burst	TAS Traceable Author Statement more info	PubMed
involved_in superoxide anion generation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of NADPH oxidase complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: NADPH oxidase organizer 1

Names: NADPH oxidase regulatory protein; Nox organizer 1; SH3 and PX domain-containing protein 5; nox-organizing protein 1; regulatory protein P41NOX

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)

NM_001267721.2 → NP_001254650.1 NADPH oxidase organizer 1 isoform d

See identical proteins and their annotated locations for NP_001254650.1

Status: REVIEWED

Description

Transcript Variant: This variant (d) uses an alternate splice site compared to variant a, but maintains the same reading frame. The encoded isoform (d) is longer than isoform a.

Source sequence(s)

AK292197, AY191359

Consensus CDS

CCDS58406.1

UniProtKB/TrEMBL

A8K832

Related

ENSP00000456800.1, ENST00000566005.5

Conserved Domains (3) summary

cd12023
Location:166 → 221

SH3_NoxO1_1; First or N-terminal Src homology 3 domain of Nox Organizing protein 1

cd12024
Location:240 → 292

SH3_NoxO1_2; Second or C-terminal Src homology 3 domain of NADPH oxidase (Nox) Organizing protein 1

cl02563
Location:3 → 126

PX_domain; The Phox Homology domain, a phosphoinositide binding module
NM_144603.4 → NP_653204.1 NADPH oxidase organizer 1 isoform a

See identical proteins and their annotated locations for NP_653204.1

Status: REVIEWED

Description

Transcript Variant: This variant (a) represents the shortest transcript and encodes the shortest isoform (a).

Source sequence(s)

BC015917, DB009385

Consensus CDS

CCDS10454.1

UniProtKB/TrEMBL

A8K832

Related

ENSP00000346195.4, ENST00000354249.8

Conserved Domains (3) summary

cd12023
Location:161 → 216

SH3_NoxO1_1; First or N-terminal Src homology 3 domain of Nox Organizing protein 1

cd12024
Location:235 → 287

SH3_NoxO1_2; Second or C-terminal Src homology 3 domain of NADPH oxidase (Nox) Organizing protein 1

cl02563
Location:3 → 121

PX_domain; The Phox Homology domain, a phosphoinositide binding module
NM_172167.3 → NP_751907.1 NADPH oxidase organizer 1 isoform b

See identical proteins and their annotated locations for NP_751907.1

Status: REVIEWED

Description

Transcript Variant: This variant (b) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant a. The encoded isoform (b) is longer than isoform a.

Source sequence(s)

AF532984, AK292197

Consensus CDS

CCDS10455.1

UniProtKB/TrEMBL

A8K832

Related

ENSP00000348435.4, ENST00000356120.9

Conserved Domains (3) summary

cd12023
Location:162 → 217

SH3_NoxO1_1; First or N-terminal Src homology 3 domain of Nox Organizing protein 1

cd12024
Location:236 → 288

SH3_NoxO1_2; Second or C-terminal Src homology 3 domain of NADPH oxidase (Nox) Organizing protein 1

cl02563
Location:3 → 122

PX_domain; The Phox Homology domain, a phosphoinositide binding module
NM_172168.3 → NP_751908.1 NADPH oxidase organizer 1 isoform c

See identical proteins and their annotated locations for NP_751908.1

Status: REVIEWED

Description

Transcript Variant: This variant (c) uses two alternate splice sites compared to variant a, but maintains the same reading frame. The encoded isoform (c) is longer than isoform a.

Source sequence(s)

AF532985, AK292197

Consensus CDS

CCDS42101.1

UniProtKB/Swiss-Prot

Q86YM1, Q8NFA2, Q8NFA3, Q96B73

UniProtKB/TrEMBL

A8K832

Related

ENSP00000380450.4, ENST00000397280.8

Conserved Domains (3) summary

cd12023
Location:167 → 222

SH3_NoxO1_1; First or N-terminal Src homology 3 domain of Nox Organizing protein 1

cd12024
Location:241 → 293

SH3_NoxO1_2; Second or C-terminal Src homology 3 domain of NADPH oxidase (Nox) Organizing protein 1

cl02563
Location:3 → 127

PX_domain; The Phox Homology domain, a phosphoinositide binding module