DOXA1_HUMAN
ID DOXA1_HUMAN Reviewed; 343 AA.
AC Q1HG43; Q8N6K9; Q96MI4;
DT 12-DEC-2006, integrated into UniProtKB/Swiss-Prot.
DT 13-JUN-2006, sequence version 1.
DT 03-AUG-2022, entry version 113.
DE RecName: Full=Dual oxidase maturation factor 1;
DE AltName: Full=Dual oxidase activator 1;
DE AltName: Full=Numb-interacting protein;
GN Name=DUOXA1; Synonyms=NIP, NUMBIP;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, AND TISSUE SPECIFICITY.
RC TISSUE=Thyroid;
RX PubMed=16651268; DOI=10.1074/jbc.c600095200;
RA Grasberger H., Refetoff S.;
RT "Identification of the maturation factor for dual oxidase. Evolution of an
RT eukaryotic operon equivalent.";
RL J. Biol. Chem. 281:18269-18272(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Prostate;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
RC TISSUE=Brain, and Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP INTERACTION WITH NUMB.
RX PubMed=14670962; DOI=10.1074/jbc.m311733200;
RA Qin H., Percival-Smith A., Li C., Jia C.Y.H., Gloor G., Li S.S.-C.;
RT "A novel transmembrane protein recruits numb to the plasma membrane during
RT asymmetric cell division.";
RL J. Biol. Chem. 279:11304-11312(2004).
CC -!- FUNCTION: May be required for the maturation and the transport from the
CC endoplasmic reticulum to the plasma membrane of functional DUOX1.
CC {ECO:0000305|PubMed:16651268}.
CC -!- SUBUNIT: May interact with NUMB.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q1HG43-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q1HG43-2; Sequence=VSP_021891;
CC Name=3;
CC IsoId=Q1HG43-3; Sequence=VSP_021890;
CC -!- TISSUE SPECIFICITY: Specifically expressed in thyroid gland. Also
CC detected in esophagus. {ECO:0000269|PubMed:16651268}.
CC -!- SIMILARITY: Belongs to the DUOXA family. {ECO:0000305}.
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DR EMBL; DQ489735; ABF48257.1; -; mRNA.
DR EMBL; AK056896; BAB71304.1; -; mRNA.
DR EMBL; BC020841; AAH20841.1; -; mRNA.
DR EMBL; BC029819; AAH29819.1; -; mRNA.
DR CCDS; CCDS10119.1; -. [Q1HG43-2]
DR CCDS; CCDS61619.1; -. [Q1HG43-3]
DR CCDS; CCDS61621.1; -. [Q1HG43-1]
DR RefSeq; NP_001263193.1; NM_001276264.1. [Q1HG43-2]
DR RefSeq; NP_001263194.1; NM_001276265.1.
DR RefSeq; NP_001263195.1; NM_001276266.1. [Q1HG43-1]
DR RefSeq; NP_001263196.1; NM_001276267.1. [Q1HG43-3]
DR RefSeq; NP_001263197.1; NM_001276268.1. [Q1HG43-3]
DR RefSeq; NP_653166.2; NM_144565.3. [Q1HG43-2]
DR RefSeq; XP_006720806.1; XM_006720743.3. [Q1HG43-1]
DR RefSeq; XP_006720808.1; XM_006720745.1. [Q1HG43-1]
DR RefSeq; XP_006720809.1; XM_006720746.1. [Q1HG43-1]
DR RefSeq; XP_006720810.1; XM_006720747.3. [Q1HG43-1]
DR RefSeq; XP_006720812.1; XM_006720749.1.
DR RefSeq; XP_006720814.1; XM_006720751.3. [Q1HG43-1]
DR RefSeq; XP_006720817.1; XM_006720754.1. [Q1HG43-3]
DR RefSeq; XP_006720818.1; XM_006720755.1.
DR RefSeq; XP_011520483.1; XM_011522181.2. [Q1HG43-1]
DR RefSeq; XP_011520484.1; XM_011522182.1.
DR RefSeq; XP_011520485.1; XM_011522183.2. [Q1HG43-1]
DR PDB; 7D3E; EM; 2.80 A; B/D=1-330.
DR PDB; 7D3F; EM; 2.30 A; B/D=1-330.
DR PDBsum; 7D3E; -.
DR PDBsum; 7D3F; -.
DR AlphaFoldDB; Q1HG43; -.
DR SMR; Q1HG43; -.
DR BioGRID; 124731; 10.
DR STRING; 9606.ENSP00000267803; -.
DR GlyGen; Q1HG43; 3 sites.
DR iPTMnet; Q1HG43; -.
DR PhosphoSitePlus; Q1HG43; -.
DR BioMuta; DUOXA1; -.
DR DMDM; 119368662; -.
DR jPOST; Q1HG43; -.
DR MassIVE; Q1HG43; -.
DR PaxDb; Q1HG43; -.
DR PeptideAtlas; Q1HG43; -.
DR PRIDE; Q1HG43; -.
DR ProteomicsDB; 61213; -. [Q1HG43-1]
DR ProteomicsDB; 61214; -. [Q1HG43-2]
DR ProteomicsDB; 61215; -. [Q1HG43-3]
DR Antibodypedia; 24331; 81 antibodies from 13 providers.
DR DNASU; 90527; -.
DR Ensembl; ENST00000267803.8; ENSP00000267803.4; ENSG00000140254.13. [Q1HG43-2]
DR Ensembl; ENST00000558422.5; ENSP00000453836.1; ENSG00000140254.13. [Q1HG43-3]
DR Ensembl; ENST00000558996.5; ENSP00000454019.1; ENSG00000140254.13. [Q1HG43-3]
DR Ensembl; ENST00000559014.5; ENSP00000453569.1; ENSG00000140254.13. [Q1HG43-2]
DR Ensembl; ENST00000560572.6; ENSP00000454084.1; ENSG00000140254.13. [Q1HG43-1]
DR GeneID; 90527; -.
DR KEGG; hsa:90527; -.
DR MANE-Select; ENST00000560572.6; ENSP00000454084.1; NM_001276266.2; NP_001263195.1.
DR UCSC; uc001zup.5; human. [Q1HG43-1]
DR CTD; 90527; -.
DR DisGeNET; 90527; -.
DR GeneCards; DUOXA1; -.
DR HGNC; HGNC:26507; DUOXA1.
DR HPA; ENSG00000140254; Tissue enhanced (esophagus, skin, thyroid gland).
DR MIM; 612771; gene.
DR neXtProt; NX_Q1HG43; -.
DR OpenTargets; ENSG00000140254; -.
DR PharmGKB; PA145008497; -.
DR VEuPathDB; HostDB:ENSG00000140254; -.
DR eggNOG; KOG3921; Eukaryota.
DR GeneTree; ENSGT00390000008240; -.
DR HOGENOM; CLU_045258_1_0_1; -.
DR InParanoid; Q1HG43; -.
DR OMA; SEWFVGQ; -.
DR PhylomeDB; Q1HG43; -.
DR TreeFam; TF312996; -.
DR PathwayCommons; Q1HG43; -.
DR BioGRID-ORCS; 90527; 14 hits in 1071 CRISPR screens.
DR ChiTaRS; DUOXA1; human.
DR GenomeRNAi; 90527; -.
DR Pharos; Q1HG43; Tbio.
DR PRO; PR:Q1HG43; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q1HG43; protein.
DR Bgee; ENSG00000140254; Expressed in lower esophagus mucosa and 125 other tissues.
DR ExpressionAtlas; Q1HG43; baseline and differential.
DR Genevisible; Q1HG43; HS.
DR GO; GO:0031252; C:cell leading edge; IGI:UniProtKB.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:InterPro.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0019899; F:enzyme binding; IPI:UniProtKB.
DR GO; GO:0042743; P:hydrogen peroxide metabolic process; IEA:Ensembl.
DR GO; GO:0010729; P:positive regulation of hydrogen peroxide biosynthetic process; IMP:UniProtKB.
DR GO; GO:0045666; P:positive regulation of neuron differentiation; IEA:Ensembl.
DR GO; GO:0008104; P:protein localization; IGI:UniProtKB.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR GO; GO:0050727; P:regulation of inflammatory response; IEA:Ensembl.
DR GO; GO:2000609; P:regulation of thyroid hormone generation; IEA:Ensembl.
DR InterPro; IPR018469; Dual_oxidase_maturation_fac.
DR PANTHER; PTHR31158; PTHR31158; 1.
DR Pfam; PF10204; DuoxA; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Glycoprotein; Membrane;
KW Protein transport; Reference proteome; Transmembrane; Transmembrane helix;
KW Transport.
FT CHAIN 1..343
FT /note="Dual oxidase maturation factor 1"
FT /id="PRO_0000264241"
FT TOPO_DOM 1..24
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 25..45
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 46..51
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 52..72
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 73..183
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 184..204
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 205..206
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 207..227
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 228..249
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 250..270
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 271..343
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 306..343
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 84
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 109
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 121
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 69..113
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_021890"
FT VAR_SEQ 331..343
FT /note="CKEAHPKDPDCAL -> YRPRRLSLVPADVRGLAPAALSALPGALLAQAWRA
FT LLPGLRCPKAGKESRLGPPHSPWRFGPEGCEERWAEHTGDSPRPLRGRGTGRLWRWGSK
FT ERRACGVRAMLPRLVSNSGLKRPSCLDLPKCWDYRRDARAFFHLLEPTPCVTSRHTPLI
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_021891"
FT VARIANT 19
FT /note="P -> L (in dbSNP:rs34734975)"
FT /id="VAR_057753"
FT VARIANT 313
FT /note="S -> G (in dbSNP:rs16977686)"
FT /id="VAR_029630"
FT STRAND 6..8
FT /evidence="ECO:0007829|PDB:7D3F"
FT HELIX 22..41
FT /evidence="ECO:0007829|PDB:7D3F"
FT HELIX 42..44
FT /evidence="ECO:0007829|PDB:7D3F"
FT HELIX 50..72
FT /evidence="ECO:0007829|PDB:7D3F"
FT STRAND 76..86
FT /evidence="ECO:0007829|PDB:7D3F"
FT STRAND 94..103
FT /evidence="ECO:0007829|PDB:7D3F"
FT STRAND 105..119
FT /evidence="ECO:0007829|PDB:7D3F"
FT STRAND 122..131
FT /evidence="ECO:0007829|PDB:7D3F"
FT HELIX 138..148
FT /evidence="ECO:0007829|PDB:7D3F"
FT HELIX 152..160
FT /evidence="ECO:0007829|PDB:7D3F"
FT STRAND 165..167
FT /evidence="ECO:0007829|PDB:7D3F"
FT HELIX 169..199
FT /evidence="ECO:0007829|PDB:7D3F"
FT HELIX 203..229
FT /evidence="ECO:0007829|PDB:7D3F"
FT STRAND 236..238
FT /evidence="ECO:0007829|PDB:7D3F"
FT STRAND 241..243
FT /evidence="ECO:0007829|PDB:7D3F"
FT HELIX 249..274
FT /evidence="ECO:0007829|PDB:7D3F"
SQ SEQUENCE 343 AA; 37815 MW; 38958512200260BE CRC64;
MATLGHTFPF YAGPKPTFPM DTTLASIIMI FLTALATFIV ILPGIRGKTR LFWLLRVVTS
LFIGAAILAV NFSSEWSVGQ VSTNTSYKAF SSEWISADIG LQVGLGGVNI TLTGTPVQQL
NETINYNEEF TWRLGENYAE EYAKALEKGL PDPVLYLAEK FTPRSPCGLY RQYRLAGHYT
SAMLWVAFLC WLLANVMLSM PVLVYGGYML LATGIFQLLA LLFFSMATSL TSPCPLHLGA
SVLHTHHGPA FWITLTTGLL CVLLGLAMAV AHRMQPHRLK AFFNQSVDED PMLEWSPEEG
GLLSPRYRSM ADSPKSQDIP LSEASSTKAY CKEAHPKDPD CAL
