Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

DUOXA1

contributors: mct - updated : 01-04-2020

HGNC name	dual oxidase maturation factor 1
HGNC id	26507

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HTDI3 congenital hypothyroidism with defects in iodide organification 3
Location	15q21.1      Physical location : 45.409.687 - 45.422.057
Synonym name	dual oxidase activator 1
	numb-interacting protein
Synonym symbol(s)	NIP, mol, NUMBIP, FLJ32334

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
text	head to head to DUOX1 in the 16-kbp DUOX1/DUOX2 intergenic region
STRUCTURE	12.00 kb     11 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - - 1923 53 483 - Grasberger variant 2 - - 1044 - 353 - Grasberger

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive esophagus         Endocrine thyroid         Respiratory respiratory tract         Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Respiratory epithelial cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a Kozak consensus domain
	five membrane integral region
	three NX (S/T) consensus site for N glycosylation clustered within an external connecting the second and third transmembrane helices

conjugated

GlycoP

HOMOLOGY

interspecies

homolog to Drosophila numb

Homologene

FAMILY	NADPH oxydase family
	DUOXA family

CATEGORY

chaperone/stress

SUBCELLULAR LOCALIZATION	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	ER-resident transmembrane protein

basic FUNCTION	allowing ER-to-Golgi transition, maturation, and translocation to the plasma membrane of functional DUOX2 in a heterologous system
	role for the cysteine residues in intermolecular disulfide bond formation with the DUOX maturation factor DUOXA1
	both DUOX enzymes (DUOX1, DUOX2) and their respective maturation factors DUOXA1 and DUOXA2 form a stable complex at the cell surface, which is fundamental for their enzymatic activity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	an intermolecular disulfide bridge rather than an intramolecular disulfide bridge is important for both the trafficking and H2O2-generating activity of the DUOX1-DUOXA1 complex
	DUOX1 dimerization is required for stability to achieve the correct structure or interaction with its maturation factor, DUOXA1

INTERACTION

DNA

RNA

small molecule

protein	DUOX1
	direct interaction of DUOX1 and its DUOXA1 maturation factor occurs through contact of cysteine residue(s) in their extracellular domains

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HTDI3

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS