Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	90527
Gene name	Dual oxidase maturation factor 1
Gene symbol	DUOXA1
Synonyms (NCBI Gene)	NIPNUMBIPmol
Chromosome	15
Chromosome location	15q21.1
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

miRTarBase ID	miRNA	Experiments	Reference
MIRT017747	hsa-miR-335-5p	Microarray	18185580

17 Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	33420071
GO:0005783	Component	Endoplasmic reticulum	IDA	19339556
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IDA	19339556
GO:0005886	Component	Plasma membrane	IEA
GO:0008104	Process	Intracellular protein localization	IGI	19339556, 22814254
GO:0010729	Process	Positive regulation of hydrogen peroxide biosynthetic process	IMP	22814254
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0019899	Function	Enzyme binding	IPI	19339556
GO:0031252	Component	Cell leading edge	IGI	19339556
GO:0042743	Process	Hydrogen peroxide metabolic process	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:2000379	Process	Positive regulation of reactive oxygen species metabolic process	IEA
GO:2000609	Process	Regulation of thyroid hormone generation	IEA

MIM	HGNC	e!Ensembl
612771	26507	ENSG00000140254

Q1HG43

Protein name

Dual oxidase maturation factor 1 (Dual oxidase activator 1) (Numb-interacting protein)

Protein function

May be required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX1.

PDB

7D3E , 7D3F

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10204	DuoxA	10 → 287	Dual oxidase maturation factor	Family

Tissue specificity

TISSUE SPECIFICITY: Specifically expressed in thyroid gland. Also detected in esophagus. {ECO:0000269|PubMed:16651268}.

Sequence

MATLGHTFPFYAGPKPTFPMDTTLASIIMIFLTALATFIVILPGIRGKTRLFWLLRVVTS
LFIGAAILAVNFSSEWSVGQVSTNTSYKAFSSEWISADIGLQVGLGGVNITLTGTPVQQL
NETINYNEEFTWRLGENYAEEYAKALEKGLPDPVLYLAEKFTPRSPCGLYRQYRLAGHYT
SAMLWVAFLCWLLANVMLSMPVLVYGGYMLLATGIFQLLALLFFSMATSLTSPCPLHLGA
SVLHTHHGPAFWITLTTGLLCVLLGLAMAVAHRMQPHRLKAFFNQSVDEDPMLEWSPEEG
GLLSPRYRSMADSPKSQDIPLSEASSTKAYCKEAHPKDPDCAL

Sequence length

343

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Colon adenocarcinoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (12)
Anemia	Anemia	BEFREE	28711793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bradyarrhythmia (disorder)	Bradyarrhythmia	BEFREE	30764634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19322654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	32425884	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18281478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	31428054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11309335		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11309335		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	21367925	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19322654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18281478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	37033267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Genes Genes most often co-reported with DUOXA1 across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for DUOXA1.

Diseases Linked via Similar Genes Diseases curated for genes most similar to DUOXA1 (see Related Genes above), that are NOT already directly curated for DUOXA1 itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to DUOXA1.

DUOXA1 (dual oxidase maturation factor 1)

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