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Q1HG43 (DOXA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 66. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Dual oxidase maturation factor 1
Alternative name(s):
Dual oxidase activator 1
Numb-interacting protein
Gene names
Name:DUOXA1
Synonyms:NIP, NUMBIP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length343 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 343343Dual oxidase maturation factor 1
PRO_0000264241

Regions

Topological domain1 – 2424Extracellular Potential
Transmembrane25 – 4521Helical; Potential
Topological domain46 – 516Cytoplasmic Potential
Transmembrane52 – 7221Helical; Potential
Topological domain73 – 183111Extracellular Potential
Transmembrane184 – 20421Helical; Potential
Topological domain205 – 2062Cytoplasmic Potential
Transmembrane207 – 22721Helical; Potential
Topological domain228 – 24922Extracellular Potential
Transmembrane250 – 27021Helical; Potential
Topological domain271 – 34373Cytoplasmic Potential

Amino acid modifications

Glycosylation841N-linked (GlcNAc...) Potential
Glycosylation1091N-linked (GlcNAc...) Potential
Glycosylation1211N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence69 – 11345Missing in isoform 3.
VSP_021890
Alternative sequence331 – 34313CKEAH…PDCAL → YRPRRLSLVPADVRGLAPAA LSALPGALLAQAWRALLPGL RCPKAGKESRLGPPHSPWRF GPEGCEERWAEHTGDSPRPL RGRGTGRLWRWGSKERRACG VRAMLPRLVSNSGLKRPSCL DLPKCWDYRRDARAFFHLLE PTPCVTSRHTPLI in isoform 2.
VSP_021891
Natural variant191P → L.
Corresponds to variant rs34734975 [ dbSNP | Ensembl ].
VAR_057753
Natural variant3131S → G.
Corresponds to variant rs16977686 [ dbSNP | Ensembl ].
VAR_029630

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 13, 2006. Version 1.
Checksum: 38958512200260BE

FASTA34337,815
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 54BEF64528B96C18
Show »

FASTA48353,519
Isoform 3 [UniParc].

Checksum: D9B346C25D142E1D
Show »

FASTA29833,111

References

« Hide '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. expand/collapse author list , 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.
RefSeqNP_001263193.1. NM_001276264.1.
NP_001263194.1. NM_001276265.1.
NP_001263195.1. NM_001276266.1.
NP_001263196.1. NM_001276267.1.
NP_001263197.1. NM_001276268.1.
NP_653166.2. NM_144565.3.
XP_005254830.1. XM_005254773.2.
UniGeneHs.356664.

3D structure databases

ProteinModelPortalQ1HG43.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124731. 1 interaction.
STRING9606.ENSP00000267803.

Polymorphism databases

DMDM119368662.

Proteomic databases

PaxDbQ1HG43.
PRIDEQ1HG43.

Protocols and materials databases

DNASU90527.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000267803; ENSP00000267803; ENSG00000140254. [Q1HG43-2]
ENST00000558422; ENSP00000453836; ENSG00000140254. [Q1HG43-3]
ENST00000558996; ENSP00000454019; ENSG00000140254. [Q1HG43-3]
ENST00000559014; ENSP00000453569; ENSG00000140254. [Q1HG43-2]
ENST00000560572; ENSP00000454084; ENSG00000140254. [Q1HG43-1]
GeneID90527.
KEGGhsa:90527.
UCSCuc001zuq.2. human. [Q1HG43-1]

Organism-specific databases

CTD90527.
GeneCardsGC15M045409.
HGNCHGNC:26507. DUOXA1.
HPAHPA041578.
MIM612771. gene.
neXtProtNX_Q1HG43.
PharmGKBPA145008497.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG282651.
HOGENOMHOG000231775.
HOVERGENHBG080429.
InParanoidQ1HG43.
KOK17233.
OMAKPTFPMD.
OrthoDBEOG73NG3Q.
PhylomeDBQ1HG43.
TreeFamTF312996.

Gene expression databases

ArrayExpressQ1HG43.
BgeeQ1HG43.
CleanExHS_DUOXA1.
GenevestigatorQ1HG43.

Family and domain databases

InterProIPR018469. Dual_oxidase_maturation_fac.
[Graphical view]
PfamPF10204. DuoxA. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSDUOXA1. human.
GenomeRNAi90527.
NextBio76821.
PROQ1HG43.
SOURCESearch...

Entry information

Entry nameDOXA1_HUMAN
AccessionPrimary (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 16, 2014
This is version 66 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM