DUOXA1 dual oxidase maturation factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DUOXA1provided by HGNC
Official Full Name: dual oxidase maturation factor 1provided by HGNC
Primary source: HGNC:HGNC:26507
See related: Ensembl:ENSG00000140254 MIM:612771; AllianceGenome:HGNC:26507
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: NIP; mol; NUMBIP
Summary: Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA1 and DUOXA2, respectively, which is essential for the maturation and function of the DUOX enzyme complexes. This gene encodes the DUOX1 activator or maturation factor DUOXA1. Rat studies identified a bidirectional promoter which controls the transcription of the DUOX1 and DUOXA1 genes. This protein is cotransported to the cell surface when coexpressed with DUOX1 and is retained in the endoplasmic reticulum when expressed without DUOX1 protein. The expression of this gene or the DUOX1 gene is not suppressed by thyroglobulin (Tg), a macromolecular precursor in thyroid hormone synthesis, while the expression of the DUOX2 and DUOXA2 are significantly suppressed by the Tg. This protein is also a p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
Expression: Biased expression in esophagus (RPKM 22.8), skin (RPKM 19.6) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q21.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (45117366..45129879, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (42925387..42937902, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (45409564..45422077, complement)

Chromosome 15 - NC_000015.10 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?

Structures of human dual oxidase 1 complex in low-calcium and high-calcium states.
Title: Structures of human dual oxidase 1 complex in low-calcium and high-calcium states.
Study shows that DUOXA1 is overexpressed in platinum-resistant ovarian cancer (OC) cells, resulting in over production of reactive oxygen species (ROS). Elevated ROS level sustains the activation of ATR-Chk1 pathway, leading to resistance to cisplatin in OC cells. Clinical studies also confirm the activation of ATR and DOUXA1 in OC patients, and elevated DOUXA1 or ATR-Chk1 pathway correlates with poor prognosis.
Title: DUOXA1-mediated ROS production promotes cisplatin resistance by activating ATR-Chk1 pathway in ovarian cancer.
We analyzed the expression of NADPH oxidase isoforms and found both A431 and HaCaT cells to express the calcium-sensitive NADPH oxidase, Dual oxidase 1 (Duox1) and its protein partner Duox activator 1 (DuoxA1).Our observations provide evidence for a new signaling paradigm in which changes of intracellular calcium concentration are transformed into redox signals through the calcium-dependent activation of Duox1.
Title: Epidermal growth factor-induced hydrogen peroxide production is mediated by dual oxidase 1.
DUOXA1 transient overexpression affected the cell-cell adhesion by modulating the actin cytoskeleton
Title: NIP1/DUOXA1 expression in epithelial breast cancer cells: regulation of cell adhesion and actin dynamics.
Heterodimerization controls localization of Duox-DuoxA NADPH oxidases in airway cells.
Title: Heterodimerization controls localization of Duox-DuoxA NADPH oxidases in airway cells.

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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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in hydrogen peroxide metabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of hydrogen peroxide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in protein localization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in regulation of thyroid hormone generation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell leading edge	IGI Inferred from Genetic Interaction more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dual oxidase maturation factor 1

Names: dual oxidase activator 1; dual oxidase maturation factor 1 alpha; dual oxidase maturation factor 1 beta; dual oxidase maturation factor 1 delta; dual oxidase maturation factor 1 gamma; homolog of Drosophila Numb-interacting protein

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

NG_033105.2 RefSeqGene

Range

4999..17512

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001276264.2 → NP_001263193.1 dual oxidase maturation factor 1 isoform 1

See identical proteins and their annotated locations for NP_001263193.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform 1.

Source sequence(s)

AC091117, AK292771, BC020841, CB850544

Consensus CDS

CCDS10119.1

UniProtKB/TrEMBL

A8K9Q6

Related

ENSP00000453569.1, ENST00000559014.5

Conserved Domains (1) summary

pfam10204
Location:11 → 283

DuoxA; Dual oxidase maturation factor
NM_001276265.1 → NP_001263194.1 dual oxidase maturation factor 1 isoform 2

See identical proteins and their annotated locations for NP_001263194.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame coding exon compared to variant 1. The resulting isoform (2, also known as delta) lacks an internal segment, compared to isoform 1.

Source sequence(s)

BC029819, CB850544, EU927397

Consensus CDS

CCDS61620.1

UniProtKB/TrEMBL

B5M0C0

Related

ENSP00000415512.2, ENST00000430224.6

Conserved Domains (1) summary

pfam10204
Location:11 → 238

DuoxA; Dual oxidase maturation factor
NM_001276266.2 → NP_001263195.1 dual oxidase maturation factor 1 isoform 3

See identical proteins and their annotated locations for NP_001263195.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two exons and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR compared to variant 1. The resulting isoform (3, also known as alpha) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC091117

Consensus CDS

CCDS61621.1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7

Related

ENSP00000454084.1, ENST00000560572.6

Conserved Domains (1) summary

pfam10204
Location:11 → 283

DuoxA; Dual oxidase maturation factor
NM_001276267.2 → NP_001263196.1 dual oxidase maturation factor 1 isoform 4

See identical proteins and their annotated locations for NP_001263196.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' and 3' UTRs and 3' coding region compared to variant 1. The resulting isoform (4, also known as beta) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 5 and 6 encode the same isoform 4.

Source sequence(s)

AC091117, AK056896, AK292771, BC020841, CB850544

Consensus CDS

CCDS61619.1

UniProtKB/TrEMBL

B5M0B8

Related

ENSP00000453836.1, ENST00000558422.5

Conserved Domains (1) summary

pfam10204
Location:11 → 238

DuoxA; Dual oxidase maturation factor
NM_001276268.2 → NP_001263197.1 dual oxidase maturation factor 1 isoform 4

See identical proteins and their annotated locations for NP_001263197.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' and 3' UTRs and 3' coding region compared to variant 1. The resulting isoform (4, also known as beta) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 5 and 6 encode the same isoform 4.

Source sequence(s)

AC091117, AK056896, CB850544

Consensus CDS

CCDS61619.1

UniProtKB/TrEMBL

B5M0B8

Related

ENSP00000454019.1, ENST00000558996.5

Conserved Domains (1) summary

pfam10204
Location:11 → 238

DuoxA; Dual oxidase maturation factor
NM_001384349.1 → NP_001371278.1 dual oxidase maturation factor 1 isoform 4

Status: REVIEWED

Source sequence(s)

AC091117

Consensus CDS

CCDS61619.1

UniProtKB/TrEMBL

B5M0B8

Conserved Domains (1) summary

pfam10204
Location:11 → 238

DuoxA; Dual oxidase maturation factor
NM_144565.4 → NP_653166.2 dual oxidase maturation factor 1 isoform 1

See identical proteins and their annotated locations for NP_653166.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1, also known as gamma). Variants 1 and 2 encode the same isoform 1.

Source sequence(s)

AC091117, AK292771, BC029819, CB850544

Consensus CDS

CCDS10119.1

UniProtKB/TrEMBL

A8K9Q6

Related

ENSP00000267803.4, ENST00000267803.8

Conserved Domains (1) summary

pfam10204
Location:11 → 283

DuoxA; Dual oxidase maturation factor

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_000015.10 Reference GRCh38.p14 Primary Assembly

Range

45117366..45129879 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006720752.4 → XP_006720815.3 dual oxidase maturation factor 1 isoform X1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7
XM_047433289.1 → XP_047289245.1 dual oxidase maturation factor 1 isoform X2

UniProtKB/TrEMBL

B5M0B8
XM_047433288.1 → XP_047289244.1 dual oxidase maturation factor 1 isoform X1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7
XM_006720746.2 → XP_006720809.1 dual oxidase maturation factor 1 isoform X1

See identical proteins and their annotated locations for XP_006720809.1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7

Conserved Domains (1) summary

pfam10204
Location:11 → 283

DuoxA; Dual oxidase maturation factor
XM_006720751.4 → XP_006720814.1 dual oxidase maturation factor 1 isoform X1

See identical proteins and their annotated locations for XP_006720814.1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7

Conserved Domains (1) summary

pfam10204
Location:11 → 283

DuoxA; Dual oxidase maturation factor
XM_006720745.2 → XP_006720808.1 dual oxidase maturation factor 1 isoform X1

See identical proteins and their annotated locations for XP_006720808.1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7

Conserved Domains (1) summary

pfam10204
Location:11 → 283

DuoxA; Dual oxidase maturation factor
XM_047433293.1 → XP_047289249.1 dual oxidase maturation factor 1 isoform X1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7
XM_006720743.4 → XP_006720806.1 dual oxidase maturation factor 1 isoform X1

See identical proteins and their annotated locations for XP_006720806.1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7

Conserved Domains (1) summary

pfam10204
Location:11 → 283

DuoxA; Dual oxidase maturation factor
XM_006720747.4 → XP_006720810.1 dual oxidase maturation factor 1 isoform X1

See identical proteins and their annotated locations for XP_006720810.1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7

Conserved Domains (1) summary

pfam10204
Location:11 → 283

DuoxA; Dual oxidase maturation factor
XM_011522181.3 → XP_011520483.1 dual oxidase maturation factor 1 isoform X1

See identical proteins and their annotated locations for XP_011520483.1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7

Conserved Domains (1) summary

pfam10204
Location:11 → 283

DuoxA; Dual oxidase maturation factor
XM_047433290.1 → XP_047289246.1 dual oxidase maturation factor 1 isoform X1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7
XM_011522183.3 → XP_011520485.1 dual oxidase maturation factor 1 isoform X1

See identical proteins and their annotated locations for XP_011520485.1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7

Conserved Domains (1) summary

pfam10204
Location:11 → 283

DuoxA; Dual oxidase maturation factor
XM_047433292.1 → XP_047289248.1 dual oxidase maturation factor 1 isoform X1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7
XM_011522186.3 → XP_011520488.1 dual oxidase maturation factor 1 isoform X3

UniProtKB/TrEMBL

H0YMH9

Related

ENSP00000453614.1, ENST00000559013.5

Conserved Domains (1) summary

pfam10204
Location:11 → 184

DuoxA; Dual oxidase maturation factor

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

42925387..42937902 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054379133.1 → XP_054235108.1 dual oxidase maturation factor 1 isoform X1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7
XM_054379129.1 → XP_054235104.1 dual oxidase maturation factor 1 isoform X1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7
XM_054379130.1 → XP_054235105.1 dual oxidase maturation factor 1 isoform X2

UniProtKB/TrEMBL

B5M0B8
XM_054379128.1 → XP_054235103.1 dual oxidase maturation factor 1 isoform X1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7
XM_054379134.1 → XP_054235109.1 dual oxidase maturation factor 1 isoform X1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7
XM_054379138.1 → XP_054235113.1 dual oxidase maturation factor 1 isoform X1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7
XM_054379137.1 → XP_054235112.1 dual oxidase maturation factor 1 isoform X1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7
XM_054379136.1 → XP_054235111.1 dual oxidase maturation factor 1 isoform X1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7
XM_054379131.1 → XP_054235106.1 dual oxidase maturation factor 1 isoform X1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7
XM_054379135.1 → XP_054235110.1 dual oxidase maturation factor 1 isoform X1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7
XM_054379139.1 → XP_054235114.1 dual oxidase maturation factor 1 isoform X1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7
XM_054379132.1 → XP_054235107.1 dual oxidase maturation factor 1 isoform X1

UniProtKB/Swiss-Prot

Q1HG43, Q8N6K9, Q96MI4

UniProtKB/TrEMBL

B5M0B7
XM_054379140.1 → XP_054235115.1 dual oxidase maturation factor 1 isoform X3

UniProtKB/TrEMBL

H0YMH9