NOXA1 NADPH oxidase activator 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NOXA1provided by HGNC
Official Full Name: NADPH oxidase activator 1provided by HGNC
Primary source: HGNC:HGNC:10668
See related: Ensembl:ENSG00000188747 MIM:611255; AllianceGenome:HGNC:10668
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: p51NOX; NY-CO-31; SDCCAG31
Summary: This gene encodes a protein which activates NADPH oxidases, enzymes which catalyze a reaction generating reactive oxygen species. The encoded protein contains four N-terminal tetratricopeptide domains and a C-terminal Src homology 3 domain. Interaction between the encoded protein and proteins in the oxidase regulatory complex occur via the tetratricopeptide domains. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Expression: Ubiquitous expression in duodenum (RPKM 4.2), stomach (RPKM 4.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (137423393..137434406)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (149674014..149685028)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (140317845..140328858)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MARCH5 requires MTCH2 to coordinate proteasomal turnover of the MCL1:NOXA complex.
Title: MARCH5 requires MTCH2 to coordinate proteasomal turnover of the MCL1:NOXA complex.
MARCH5-dependent degradation of MCL1/NOXA complexes defines susceptibility to antimitotic drug treatment.
Title: MARCH5-dependent degradation of MCL1/NOXA complexes defines susceptibility to antimitotic drug treatment.
The Novel Histone Deacetylase Inhibitor, OBP-801, Induces Apoptosis in Rhabdoid Tumors by Releasing the Silencing of NOXA.
Title: The Novel Histone Deacetylase Inhibitor, OBP-801, Induces Apoptosis in Rhabdoid Tumors by Releasing the Silencing of NOXA.
mitochondrial targeting domain peptide induces necrotic cell death by interaction with the VDAC2 protein.
Title: Noxa mitochondrial targeting domain induces necrosis via VDAC2 and mitochondrial catastrophe.
These results identify NOXA mRNA destabilization/MCL-1 adaptation as a non-genomic mechanism that limits apoptotic responses.
Title: Destabilization of NOXA mRNA as a common resistance mechanism to targeted therapies.
both caspase-8-dependent and -independent apoptotic mechanisms are activated in triple-negative breast cancer cells undergoing sustained endoplasmic reticulum stress.
Title: Involvement of both caspase-8 and Noxa-activated pathways in endoplasmic reticulum stress-induced apoptosis in triple-negative breast tumor cells.
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.
A NOXA1 peptide blocked NOXA1-Nox1 binding. The finding identifies a NOXA1-activating domain and an isoform-specific Nox1 inhibitor.
Title: Selective recapitulation of conserved and nonconserved regions of putative NOXA1 protein activation domain confers isoform-specific inhibition of Nox1 oxidase and attenuation of endothelial cell migration.
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.
Noxa1 has quite different kinetic properties from p67(phox) and suggest that Noxa1 may function as a moderate activator of Nox2.
Title: Noxa1 as a moderate activator of Nox2-based NADPH oxidase.

Submit: New GeneRIF Correction See all GeneRIFs (19)

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 SH3 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase 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	IDA Inferred from Direct Assay more info	PubMed
enables superoxide-generating NADPH oxidase activator activity	IEA Inferred from Electronic Annotation more info
enables superoxide-generating NADPH oxidase activator activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of hydrogen peroxide metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of respiratory burst	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in superoxide anion generation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within superoxide metabolic process	IEA Inferred from Electronic Annotation more info
involved_in superoxide metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of NADPH oxidase complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: NADPH oxidase activator 1

Names: NCF2-like protein; Nox activator 1; antigen NY-CO-31; inhibitory NADPH oxidase activator 1; p51-nox; p67phox-like factor; serologically defined colon cancer antigen 31

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_001256067.2 → NP_001242996.1 NADPH oxidase activator 1 isoform 2

See identical proteins and their annotated locations for NP_001242996.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.

Source sequence(s)

AB095031, BX322799

Consensus CDS

CCDS94544.1

UniProtKB/Swiss-Prot

O60533, Q29VU9, Q29VV0, Q2TAM1, Q86UR1, Q8IUS3

Related

ENSP00000507846.1, ENST00000683555.1

Conserved Domains (4) summary

cd06411
Location:316 → 393

PB1_p51; The PB1 domain is present in the p51 protein, a homolog of the p67 protein. p51 plays an important role in NADPH oxidase activation during phagosytosis. The PB1 domain is a modular domain mediating specific protein-protein interaction in many critical ...

cd12047
Location:403 → 455

SH3_Noxa1_C; C-terminal Src Homology 3 domain of NADPH oxidase activator 1

sd00006
Location:38 → 66

TPR; TPR repeat [structural motif]

pfam13414
Location:38 → 100

TPR_11; TPR repeat
NM_001256068.2 → NP_001242997.1 NADPH oxidase activator 1 isoform 3

See identical proteins and their annotated locations for NP_001242997.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 3' coding region compared to variant 1. The resulting protein (isoform 3) is shorter compared to isoform 1.

Source sequence(s)

AI860821, AY927791, BX322799

Consensus CDS

CCDS59157.1

UniProtKB/Swiss-Prot

Q86UR1

Related

ENSP00000376562.2, ENST00000392815.2

Conserved Domains (4) summary

cd06411
Location:260 → 337

PB1_p51; The PB1 domain is present in the p51 protein, a homolog of the p67 protein. p51 plays an important role in NADPH oxidase activation during phagosytosis. The PB1 domain is a modular domain mediating specific protein-protein interaction in many critical ...

sd00006
Location:38 → 66

TPR; TPR repeat [structural motif]

pfam13414
Location:38 → 100

TPR_11; TPR repeat

cl17036
Location:347 → 406

SH3; Src Homology 3 domain superfamily
NM_006647.2 → NP_006638.1 NADPH oxidase activator 1 isoform 1

See identical proteins and their annotated locations for NP_006638.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).

Source sequence(s)

BC041594, BX322799

Consensus CDS

CCDS7042.1

UniProtKB/Swiss-Prot

Q86UR1

Related

ENSP00000342848.2, ENST00000341349.6

Conserved Domains (4) summary

cd06411
Location:316 → 393

PB1_p51; The PB1 domain is present in the p51 protein, a homolog of the p67 protein. p51 plays an important role in NADPH oxidase activation during phagosytosis. The PB1 domain is a modular domain mediating specific protein-protein interaction in many critical ...

COG0457
Location:10 → 118

TPR; Tetratricopeptide (TPR) repeat [General function prediction only]

sd00006
Location:38 → 66

TPR; TPR repeat [structural motif]

cl17036
Location:403 → 462

SH3; Src Homology 3 domain superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

137423393..137434406

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011518158.4 → XP_011516460.1 NADPH oxidase activator 1 isoform X1

Conserved Domains (4) summary

cd06411
Location:280 → 357

PB1_p51; The PB1 domain is present in the p51 protein, a homolog of the p67 protein. p51 plays an important role in NADPH oxidase activation during phagosytosis. The PB1 domain is a modular domain mediating specific protein-protein interaction in many critical ...

sd00006
Location:38 → 66

TPR; TPR repeat [structural motif]

pfam13414
Location:38 → 100

TPR_11; TPR repeat

cl17036
Location:367 → 426

SH3; Src Homology 3 domain superfamily
XM_047422658.1 → XP_047278614.1 NADPH oxidase activator 1 isoform X2
XM_047422660.1 → XP_047278616.1 NADPH oxidase activator 1 isoform X4
XM_011518159.2 → XP_011516461.1 NADPH oxidase activator 1 isoform X3

See identical proteins and their annotated locations for XP_011516461.1

Conserved Domains (2) summary

cd06411
Location:168 → 245

PB1_p51; The PB1 domain is present in the p51 protein, a homolog of the p67 protein. p51 plays an important role in NADPH oxidase activation during phagosytosis. The PB1 domain is a modular domain mediating specific protein-protein interaction in many critical ...

cl17036
Location:255 → 314

SH3; Src Homology 3 domain superfamily
XM_047422659.1 → XP_047278615.1 NADPH oxidase activator 1 isoform X3