Reviewed,
UniProtKB/Swiss-Prot Q1HG44 (DOXA2_HUMAN)
Last modified
June 16, 2009.
Version 25.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Dual oxidase maturation factor 2 Alternative name(s): Dual oxidase activator 2 | ||
| Gene names |
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| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 320 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX2. May play a role in thyroid hormone synthesis. Ref.1 |
| Subcellular location | Endoplasmic reticulum membrane; Multi-pass membrane protein. Ref.1 |
| Tissue specificity | Specifically expressed in thyroid. Also detected in salivary glands. Ref.1 |
| Post-translational modification | N-glycosylated. Ref.1 |
| Sequence similarities | Belongs to the DUOXA family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Protein transport Transport |
| Cellular component | Endoplasmic reticulum Membrane |
| Coding sequence diversity | Polymorphism |
| Domain | Transmembrane |
| PTM | Glycoprotein |
| Gene Ontology (GO) | |
| Biological process | protein transport Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membraneInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 320 | 320 | Dual oxidase maturation factor 2 | PRO_0000264245 | |||||
Regions | |||||||||
| Topological domain | 1 – 21 | 21 | Extracellular Potential | ||||||
| Transmembrane | 22 – 42 | 21 | Potential | ||||||
| Topological domain | 43 – 56 | 14 | Cytoplasmic Potential | ||||||
| Transmembrane | 57 – 77 | 21 | Potential | ||||||
| Topological domain | 78 – 183 | 106 | Extracellular Potential | ||||||
| Transmembrane | 184 – 204 | 21 | Potential | ||||||
| Topological domain | 205 – 206 | 2 | Cytoplasmic Potential | ||||||
| Transmembrane | 207 – 227 | 21 | Potential | ||||||
| Topological domain | 228 – 247 | 20 | Extracellular Potential | ||||||
| Transmembrane | 248 – 268 | 21 | Potential | ||||||
| Topological domain | 269 – 320 | 52 | 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 | |||||||||
| Natural variant | 100 | 1 | R → G: dbSNP rs2576090. Ref.1 | VAR_047367 | |||||
Sequences
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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: 16651268] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, GLYCOSYLATION, VARIANT GLY-100. Tissue: Thyroid. |
| [2] | "Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. Nusbaum C.Nature 440:671-675(2006) [PubMed: 16572171] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| DQ489734 mRNA. Translation: ABF48256.1. AC091117 Genomic DNA. No translation available. BC137465 mRNA. Translation: AAI37466.1. | |
| IPI | IPI00183661. |
| RefSeq | NP_997464.2. |
| UniGene | Hs.497987 |
3D structure databases | |
| ModBase | Search... |
Genome annotation databases | |
| Ensembl | ENSG00000140274. Homo sapiens. [Contig view] |
| GeneID | 405753. |
| KEGG | hsa:405753. |
Organism-specific databases | |
| GeneCards | GC15P043194. |
| HGNC | HGNC:32698. DUOXA2. |
| Orphanet | 442. Hypothyroidism, congenital. 95717. Hypothyroidism, congenital idiopathic. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q1HG44. |
| OMA | Q1HG44. VPLCPLR. |
Gene expression databases | |
| Bgee | Q1HG44. |
| CleanEx | HS_DUOXA2. |
| GermOnline | ENSG00000140274. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR018469. Dual_oxidase_maturation_fac. [Graphical view] |
| Pfam | PF10204. DuoxA. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 107951. |
Entry information
| Entry name | DOXA2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q1HG44 Secondary accession number(s): B2RPI9 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 15 Human chromosome 15: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| SIMILARITY comments Index of protein domains and families |

Clusters with


