Q1HG43 (DOXA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Dual oxidase maturation factor 1

Alternative name(s):
Dual oxidase activator 1
Numb-interacting protein

Gene names

Name:	DUOXA1
Synonyms:	NIP, NUMBIP

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	343 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX1 Probable. Ref.1
Subunit structure	May interact with NUMB.
Subcellular location	Membrane; Multi-pass membrane protein Potential.
Tissue specificity	Specifically expressed in thyroid gland. Also detected in esophagus. Ref.1
Sequence similarities	Belongs to the DUOXA family.

Ontologies

Keywords
Biological process	Protein transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	positive regulation of neuron differentiation Inferred from electronic annotation. Source: Compara positive regulation of reactive oxygen species metabolic process Inferred from electronic annotation. Source: Compara protein transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: InterPro integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q1HG43-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q1HG43-2)

The sequence of this isoform differs from the canonical sequence as follows:
     331-343: CKEAHPKDPDCAL → YRPRRLSLVP...CVTSRHTPLI

Note: No experimental confirmation available.

Isoform 3 (identifier: Q1HG43-3)

The sequence of this isoform differs from the canonical sequence as follows:
     69-113: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 343	343	Dual oxidase maturation factor 1		PRO_0000264241
Regions
	Topological domain	1 – 24	24	Extracellular Potential
	Transmembrane	25 – 45	21	Helical; Potential
	Topological domain	46 – 51	6	Cytoplasmic Potential
	Transmembrane	52 – 72	21	Helical; Potential
	Topological domain	73 – 183	111	Extracellular Potential
	Transmembrane	184 – 204	21	Helical; Potential
	Topological domain	205 – 206	2	Cytoplasmic Potential
	Transmembrane	207 – 227	21	Helical; Potential
	Topological domain	228 – 249	22	Extracellular Potential
	Transmembrane	250 – 270	21	Helical; Potential
	Topological domain	271 – 343	73	Cytoplasmic Potential
Amino acid modifications
	Glycosylation	84	1	N-linked (GlcNAc...) Potential
	Glycosylation	109	1	N-linked (GlcNAc...) Potential
	Glycosylation	121	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	69 – 113	45	Missing in isoform 3.		VSP_021890
	Alternative sequence	331 – 343	13	CKEAH…PDCAL → YRPRRLSLVPADVRGLAPAA LSALPGALLAQAWRALLPGL RCPKAGKESRLGPPHSPWRF GPEGCEERWAEHTGDSPRPL RGRGTGRLWRWGSKERRACG VRAMLPRLVSNSGLKRPSCL DLPKCWDYRRDARAFFHLLE PTPCVTSRHTPLI in isoform 2.		VSP_021891
	Natural variant	19	1	P → L. Corresponds to variant rs34734975 [ dbSNP | Ensembl ].		VAR_057753
	Natural variant	313	1	S → G. Corresponds to variant rs16977686 [ dbSNP | Ensembl ].		VAR_029630

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 13, 2006. Version 1. Checksum: 38958512200260BE	FASTA	343	37,815
	10 20 30 40 50 60 MATLGHTFPF YAGPKPTFPM DTTLASIIMI FLTALATFIV ILPGIRGKTR LFWLLRVVTS 70 80 90 100 110 120 LFIGAAILAV NFSSEWSVGQ VSTNTSYKAF SSEWISADIG LQVGLGGVNI TLTGTPVQQL 130 140 150 160 170 180 NETINYNEEF TWRLGENYAE EYAKALEKGL PDPVLYLAEK FTPRSPCGLY RQYRLAGHYT 190 200 210 220 230 240 SAMLWVAFLC WLLANVMLSM PVLVYGGYML LATGIFQLLA LLFFSMATSL TSPCPLHLGA 250 260 270 280 290 300 SVLHTHHGPA FWITLTTGLL CVLLGLAMAV AHRMQPHRLK AFFNQSVDED PMLEWSPEEG 310 320 330 340 GLLSPRYRSM ADSPKSQDIP LSEASSTKAY CKEAHPKDPD CAL
	Isoform 2 [UniParc]. Checksum: 54BEF64528B96C18	FASTA	483	53,519
	10 20 30 40 50 60 MATLGHTFPF YAGPKPTFPM DTTLASIIMI FLTALATFIV ILPGIRGKTR LFWLLRVVTS 70 80 90 100 110 120 LFIGAAILAV NFSSEWSVGQ VSTNTSYKAF SSEWISADIG LQVGLGGVNI TLTGTPVQQL 130 140 150 160 170 180 NETINYNEEF TWRLGENYAE EYAKALEKGL PDPVLYLAEK FTPRSPCGLY RQYRLAGHYT 190 200 210 220 230 240 SAMLWVAFLC WLLANVMLSM PVLVYGGYML LATGIFQLLA LLFFSMATSL TSPCPLHLGA 250 260 270 280 290 300 SVLHTHHGPA FWITLTTGLL CVLLGLAMAV AHRMQPHRLK AFFNQSVDED PMLEWSPEEG 310 320 330 340 350 360 GLLSPRYRSM ADSPKSQDIP LSEASSTKAY YRPRRLSLVP ADVRGLAPAA LSALPGALLA 370 380 390 400 410 420 QAWRALLPGL RCPKAGKESR LGPPHSPWRF GPEGCEERWA EHTGDSPRPL RGRGTGRLWR 430 440 450 460 470 480 WGSKERRACG VRAMLPRLVS NSGLKRPSCL DLPKCWDYRR DARAFFHLLE PTPCVTSRHT PLI
	Isoform 3 [UniParc]. Checksum: D9B346C25D142E1D	FASTA	298	33,111
	10 20 30 40 50 60 MATLGHTFPF YAGPKPTFPM DTTLASIIMI FLTALATFIV ILPGIRGKTR LFWLLRVVTS 70 80 90 100 110 120 LFIGAAILGT PVQQLNETIN YNEEFTWRLG ENYAEEYAKA LEKGLPDPVL YLAEKFTPRS 130 140 150 160 170 180 PCGLYRQYRL AGHYTSAMLW VAFLCWLLAN VMLSMPVLVY GGYMLLATGI FQLLALLFFS 190 200 210 220 230 240 MATSLTSPCP LHLGASVLHT HHGPAFWITL TTGLLCVLLG LAMAVAHRMQ PHRLKAFFNQ 250 260 270 280 290 SVDEDPMLEW SPEEGGLLSP RYRSMADSPK SQDIPLSEAS STKAYCKEAH PKDPDCAL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent." Grasberger H., Refetoff S. J. Biol. Chem. 281:18269-18272(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY. Tissue: Thyroid.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Prostate.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3). Tissue: Brain and Lung.
[4]	"A novel transmembrane protein recruits numb to the plasma membrane during asymmetric cell division." Qin H., Percival-Smith A., Li C., Jia C.Y.H., Gloor G., Li S.S.-C. J. Biol. Chem. 279:11304-11312(2004) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH NUMB.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	DQ489735 mRNA. Translation: ABF48257.1. AK056896 mRNA. Translation: BAB71304.1. BC020841 mRNA. Translation: AAH20841.1. BC029819 mRNA. Translation: AAH29819.1.
IPI	IPI00065518. IPI00167028. IPI00815875.
RefSeq	NP_001263193.1. NM_001276264.1. NP_001263195.1. NM_001276266.1. NP_001263196.1. NM_001276267.1. NP_001263197.1. NM_001276268.1. NP_653166.2. NM_144565.3.
UniGene	Hs.356664.
3D structure databases
ProteinModelPortal	Q1HG43.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000267803.
Polymorphism databases
DMDM	119368662.
Proteomic databases
PaxDb	Q1HG43.
PRIDE	Q1HG43.
Protocols and materials databases
DNASU	90527.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000267803; ENSP00000267803; ENSG00000140254. ENST00000558422; ENSP00000453836; ENSG00000140254. ENST00000558996; ENSP00000454019; ENSG00000140254. ENST00000559014; ENSP00000453569; ENSG00000140254. ENST00000560572; ENSP00000454084; ENSG00000140254.
GeneID	90527.
KEGG	hsa:90527.
UCSC	uc001zuq.1. human.
Organism-specific databases
CTD	90527.
GeneCards	GC15M045409.
HGNC	HGNC:26507. DUOXA1.
HPA	HPA041578.
MIM	612771. gene.
neXtProt	NX_Q1HG43.
PharmGKB	PA145008497.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG282651.
HOGENOM	HOG000231775.
HOVERGEN	HBG080429.
InParanoid	Q1HG43.
OMA	KPTFPMD.
Gene expression databases
ArrayExpress	Q1HG43.
Bgee	Q1HG43.
CleanEx	HS_DUOXA1.
Genevestigator	Q1HG43.
GermOnline	ENSG00000140254. Homo sapiens.
Family and domain databases
InterPro	IPR018469. Dual_oxidase_maturation_fac. [Graphical view]
Pfam	PF10204. DuoxA. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	DUOXA1. human.
GenomeRNAi	90527.
NextBio	76821.
SOURCE	Search...

Entry information

Entry name

DOXA1_HUMAN

Accession

Primary (citable) accession number: Q1HG43
Secondary accession number(s): Q8N6K9, Q96MI4

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 12, 2006
Last sequence update:	June 13, 2006
Last modified:	April 3, 2013
This is version 57 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.