P07202 (PERT_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 175.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Thyroid peroxidase Short name=TPO EC=1.11.1.8 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 933 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T3 and T4. |
| Catalytic activity | 2 iodide + H2O2 + 2 H+ = 2 iodine + 2 H2O. [Thyroglobulin]-L-tyrosine + iodide + H2O2 = [thyroglobulin]-3-iodo-L-tyrosine + 2 H2O. [Thyroglobulin]-3-iodo-L-tyrosine + iodide + H2O2 = [thyroglobulin]-3,5-diiodo-L-tyrosine + 2 H2O. 2 [thyroglobulin]-3,5-diiodo-L-tyrosine + H2O2 = [thyroglobulin]-L-thyroxine + [thyroglobulin]-aminoacrylate + 2 H2O. [Thyroglobulin]-3-iodo-L-tyrosine + [thyroglobulin]-3,5-diiodo-L-tyrosine + H2O2 = [thyroglobulin]-3,5,3'-triiodo-L-thyronine + [thyroglobulin]-aminoacrylate + 2 H2O. |
| Cofactor | Binds 1 calcium ion per heterodimer By similarity. Binds 1 heme B (iron-protoporphyrin IX) group covalently per heterodimer By similarity. |
| Pathway | |
| Subunit structure | Interacts with DUOX1, DUOX2 and CYBA. Ref.10 |
| Subcellular location | Membrane; Single-pass type I membrane protein. Isoform 3: Cell surface. |
| Post-translational modification | Glycosylated. Heme is covalently bound through a H2O(2)-dependent autocatalytic process. Heme insertion is important for the delivery of protein at the cell surface. Cleaved in its N-terminal part. |
| Involvement in disease | An alternative splicing in the thyroperoxidase mRNA can cause Graves' disease. Ref.9 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]: A disorder due to defective conversion of accumulated iodide to organically bound iodine. The iodide organification defect can be partial or complete. |
| Sequence similarities | Belongs to the peroxidase family. XPO subfamily. Contains 1 EGF-like domain. Contains 1 Sushi (CCP/SCR) domain. |
Ontologies
Alternative products
| This entry describes 8 isoforms produced by alternative splicing. [Align] [Select] Note: Additional isoforms seem to exist. | ||||||
| Isoform 1 (identifier: P07202-1) Also known as: TPO1; 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: P07202-2) Also known as: TPO2; The sequence of this isoform differs from the canonical sequence as follows: 534-590: Missing. | ||||||
| Note: Lacks exon 10. Found in normal thyroid tissues as well as Graves'tissues. Rapidly degraded after synthesis, does not reach the cell surface. Inactive. | ||||||
| Isoform 3 (identifier: P07202-3) Also known as: TPO3; Graves' disease; TPOzaninelli; The sequence of this isoform differs from the canonical sequence as follows: 874-933: TRTGTKSTLP...RDTHRLPRAL → RVLGWKAGIL...SAGRLFSQHG | ||||||
| Note: Lacks exon 16. Found in normal thyroid tissues as well as Graves'tissues. Active. | ||||||
| Isoform 4 (identifier: P07202-4) Also known as: TPO4; The sequence of this isoform differs from the canonical sequence as follows: 796-839: Missing. | ||||||
| Note: Lacks exon 14. Active. | ||||||
| Isoform 5 (identifier: P07202-5) Also known as: TPO5; The sequence of this isoform differs from the canonical sequence as follows: 274-446: Missing. | ||||||
| Note: Lacks exon 8. Does not fold correctly. Does not reach the cell surface. | ||||||
| Isoform 6 (identifier: P07202-6) Also known as: TPO6; The sequence of this isoform differs from the canonical sequence as follows: 534-590: Missing. 669-933: Missing. | ||||||
| Note: Lacks exons 10, 12, 13, 14 and 16. | ||||||
| Isoform 2-3 (identifier: P07202-7) The sequence of this isoform differs from the canonical sequence as follows: 534-590: Missing. 874-933: TRTGTKSTLP...RDTHRLPRAL → RVLGWKAGIL...SAGRLFSQHG | ||||||
| Note: Lacks exons 10 and 16. | ||||||
| Isoform 2-4 (identifier: P07202-8) The sequence of this isoform differs from the canonical sequence as follows: 534-590: Missing. 796-839: Missing. | ||||||
| Note: Lacks exons 10 and 14. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 18 | 18 | Potential | ||||||||
| Chain | 19 – 933 | 915 | Thyroid peroxidase | PRO_0000023662 | |||||||
Regions | |||||||||||
| Topological domain | 19 – 846 | 828 | Extracellular Potential | ||||||||
| Transmembrane | 847 – 871 | 25 | Helical; Potential | ||||||||
| Topological domain | 872 – 933 | 62 | Cytoplasmic Potential | ||||||||
| Domain | 740 – 795 | 56 | Sushi | ||||||||
| Domain | 796 – 839 | 44 | EGF-like; calcium-binding Potential | ||||||||
Sites | |||||||||||
| Active site | 239 | 1 | Proton acceptor By similarity | ||||||||
| Metal binding | 240 | 1 | Calcium By similarity | ||||||||
| Metal binding | 321 | 1 | Calcium By similarity | ||||||||
| Metal binding | 323 | 1 | Calcium; via carbonyl oxygen By similarity | ||||||||
| Metal binding | 325 | 1 | Calcium By similarity | ||||||||
| Metal binding | 327 | 1 | Calcium By similarity | ||||||||
| Metal binding | 494 | 1 | Iron (heme axial ligand) By similarity | ||||||||
| Binding site | 238 | 1 | Heme (covalent; via 2 links) By similarity | ||||||||
| Binding site | 399 | 1 | Heme (covalent; via 2 links) By similarity | ||||||||
| Site | 396 | 1 | Transition state stabilizer By similarity | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 129 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 307 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 342 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 569 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 142 ↔ 158 | By similarity | |||||||||
| Disulfide bond | 259 ↔ 269 | By similarity | |||||||||
| Disulfide bond | 263 ↔ 286 | By similarity | |||||||||
| Disulfide bond | 598 ↔ 655 | By similarity | |||||||||
| Disulfide bond | 696 ↔ 721 | By similarity | |||||||||
| Disulfide bond | 800 ↔ 814 | By similarity | |||||||||
| Disulfide bond | 808 ↔ 823 | By similarity | |||||||||
| Disulfide bond | 825 ↔ 838 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 274 – 446 | 173 | Missing in isoform 5. | VSP_007268 | |||||||
| Alternative sequence | 534 – 590 | 57 | Missing in isoform 2, isoform 2-3, isoform 2-4 and isoform 6. | VSP_004665 | |||||||
| Alternative sequence | 669 – 933 | 265 | Missing in isoform 6. | VSP_007270 | |||||||
| Alternative sequence | 796 – 839 | 44 | Missing in isoform 4 and isoform 2-4. | VSP_007269 | |||||||
| Alternative sequence | 874 – 933 | 60 | TRTGT…LPRAL → RVLGWKAGILTGCREPSEGK VAGHCRTASCSQNHRTTLFQ TQANRKSAGRLFSQHG in isoform 3 and isoform 2-3. | VSP_004666 | |||||||
| Natural variant | 53 | 1 | A → P in TDH2A. Ref.19 | VAR_021622 | |||||||
| Natural variant | 240 | 1 | D → N in TDH2A; loss of activity. Ref.15 | VAR_021623 | |||||||
| Natural variant | 257 | 1 | A → S. Ref.5 Ref.6 Ref.11 Corresponds to variant rs4927611 [ dbSNP | Ensembl ]. | VAR_006057 | |||||||
| Natural variant | 307 | 1 | N → T in TDH2A. Ref.23 | VAR_021624 | |||||||
| Natural variant | 326 | 1 | A → T in TDH2A. Ref.16 | VAR_021625 | |||||||
| Natural variant | 373 | 1 | A → S. Ref.11 Corresponds to variant rs2280132 [ dbSNP | Ensembl ]. | VAR_006058 | |||||||
| Natural variant | 378 | 1 | E → K in TDH2A. Ref.25 | VAR_025784 | |||||||
| Natural variant | 398 | 1 | S → T. Ref.11 Corresponds to variant rs2175977 [ dbSNP | Ensembl ]. | VAR_006059 | |||||||
| Natural variant | 433 | 1 | V → M in TDH2A. Ref.23 | VAR_021626 | |||||||
| Natural variant | 447 | 1 | I → F in TDH2A. Ref.12 Ref.16 | VAR_015375 | |||||||
| Natural variant | 453 | 1 | Y → D in TDH2A. Ref.11 Ref.16 Ref.26 | VAR_006060 | |||||||
| Natural variant | 458 | 1 | L → P in TDH2A. Ref.17 | VAR_021627 | |||||||
| Natural variant | 491 | 1 | R → H in TDH2A. Ref.17 | VAR_021628 | |||||||
| Natural variant | 493 | 1 | G → S in TDH2A. Ref.20 | VAR_021629 | |||||||
| Natural variant | 499 | 1 | P → L in TDH2A. Ref.23 | VAR_021630 | |||||||
| Natural variant | 527 | 1 | W → C in TDH2A. Ref.16 | VAR_021631 | |||||||
| Natural variant | 533 | 1 | G → C in TDH2A; partial defect; expression slightly lower in efficiency and more degenerative than wild-type enzyme. Ref.22 | VAR_027229 | |||||||
| Natural variant | 574 – 575 | 2 | Missing in TDH2A; partial defect; expressed on the plasma membrane surface at less than half the rate of wild-type enzyme. | VAR_027230 | |||||||
| Natural variant | 590 | 1 | G → S in TDH2A. Ref.11 | VAR_027231 | |||||||
| Natural variant | 618 | 1 | V → M. Corresponds to variant rs10189135 [ dbSNP | Ensembl ]. | VAR_027232 | |||||||
| Natural variant | 648 | 1 | R → Q in TDH2A. Ref.14 | VAR_013138 | |||||||
| Natural variant | 660 | 1 | Q → E in TDH2A. Ref.13 | VAR_021632 | |||||||
| Natural variant | 665 | 1 | R → W in TDH2A; fails to localize to the plasma membrane. Ref.18 | VAR_021633 | |||||||
| Natural variant | 693 | 1 | R → W in TDH2A. Ref.16 Ref.24 | VAR_021634 | |||||||
| Natural variant | 706 | 1 | M → V. Corresponds to variant rs13431173 [ dbSNP | Ensembl ]. | VAR_027233 | |||||||
| Natural variant | 725 | 1 | T → P. Ref.1 Ref.2 Ref.6 Ref.7 Ref.11 Corresponds to variant rs732609 [ dbSNP | Ensembl ]. | VAR_006061 | |||||||
| Natural variant | 771 | 1 | G → R in TDH2A; fails to localize to the plasma membrane. Ref.18 | VAR_021635 | |||||||
| Natural variant | 793 | 1 | L → P. Corresponds to variant rs28991293 [ dbSNP | Ensembl ]. | VAR_027234 | |||||||
| Natural variant | 796 | 1 | D → Y in TDH2A. Ref.20 | VAR_021636 | |||||||
| Natural variant | 799 | 1 | E → K in TDH2A. Ref.11 Ref.14 Ref.16 | VAR_006062 | |||||||
| Natural variant | 808 | 1 | C → R in TDH2A. Ref.23 | VAR_021637 | |||||||
| Natural variant | 839 | 1 | V → I in TDH2A. Ref.21 | VAR_027235 | |||||||
| Natural variant | 846 | 1 | R → W. Corresponds to variant rs28913014 [ dbSNP | Ensembl ]. | VAR_027236 | |||||||
| Natural variant | 847 | 1 | V → A. Ref.1 Ref.2 Ref.6 Ref.7 Corresponds to variant rs1126799 [ dbSNP | Ensembl ]. | VAR_027237 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 70 | 1 | P → G in AAA61217. Ref.5 | ||||||||
| Sequence conflict | 354 | 1 | A → G Ref.5 | ||||||||
| Sequence conflict | 354 | 1 | A → G Ref.8 | ||||||||
| Sequence conflict | 371 | 1 | A → R in AAA61215. Ref.1 | ||||||||
| Sequence conflict | 371 | 1 | A → R in AAA61216. Ref.1 | ||||||||
| Sequence conflict | 381 | 1 | I → N Ref.5 | ||||||||
| Sequence conflict | 381 | 1 | I → N Ref.8 | ||||||||
| Sequence conflict | 574 | 1 | D → N in CAA68467. Ref.2 | ||||||||
| Sequence conflict | 732 | 1 | W → C in AAN11302. Ref.7 | ||||||||
| Sequence conflict | 748 | 1 | V → M Ref.2 | ||||||||
| Sequence conflict | 748 | 1 | V → M Ref.7 | ||||||||
| Sequence conflict | 816 | 1 | N → S in AAL74416. Ref.6 | ||||||||
| Sequence conflict | 872 | 1 | R → K Ref.2 | ||||||||
| Sequence conflict | 872 | 1 | R → K Ref.7 | ||||||||
Sequences
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References
| [1] | "Human thyroid peroxidase: complete cDNA and protein sequence, chromosome mapping, and identification of two alternately spliced mRNAs." Kimura S., Kotani T., McBride O.W., Umeki K., Hirai K., Nakayama T., Ohtaki S. Proc. Natl. Acad. Sci. U.S.A. 84:5555-5559(1987) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANTS PRO-725 AND ALA-847. |
| [2] | "Complete nucleotide sequence of the human thyroperoxidase-microsomal antigen cDNA." Libert F., Ruel J., Ludgate M., Swillens S., Alexander N., Vassart G., Dinsart C. Nucleic Acids Res. 15:6735-6735(1987) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS PRO-725 AND ALA-847. Tissue: Thyroid. |
| [3] | "Structure of the human thyroid peroxidase gene: comparison and relationship to the human myeloperoxidase gene." Kimura S., Hong Y.S., Kotani T., Ohtaki S., Kikkawa F. Biochemistry 28:4481-4489(1989) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1). |
| [4] | "Nucleotide sequence of the alternatively spliced human thyroid peroxidase cDNA, TPO-2." Barnett P.S., Banga J.P., Watkins J., Huang G.C., Gluckman D.R.B., Page M.J., McGregor A.M. Nucleic Acids Res. 18:670-670(1990) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Thyroid. |
| [5] | Rapoport B. Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT SER-257. Tissue: Thyroid. |
| [6] | "Homo sapiens thyroid peroxidase (TPO) variant mRNA, alternatively spliced sequence." Hennen G.P., Igout A., Melen L.B. Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), VARIANTS SER-257; PRO-725 AND ALA-847. Tissue: Thyroid. |
| [7] | "Increasing diversity of human thyroperoxidase generated by alternative splicing. Characterization by molecular cloning of new transcripts with single- and multispliced mRNAs." Ferrand M., Le Fourn V., Franc J.-L. J. Biol. Chem. 278:3793-3800(2003) [PubMed] [Europe PMC] [Abstract] Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4; 5; 6; 2-3 AND 2-4), VARIANTS PRO-725 AND ALA-847. Tissue: Thyroid. |
| [8] | "Isolation of a complementary DNA clone for thyroid microsomal antigen. Homology with the gene for thyroid peroxidase." Seto P., Hirayu H., Magnusson R.P., Gestautas J., Portmann L., Degroot L.J., Rapoport B. J. Clin. Invest. 80:1205-1208(1987) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 217-496. |
| [9] | "Evidence for an alternate splicing in the thyroperoxidase messenger from patients with Graves' disease." Zanelli E., Henry M., Charvet B., Malthiery Y. Biochem. Biophys. Res. Commun. 170:735-741(1990) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 670-933 (ISOFORM 3), ALTERNATIVE SPLICING IN GRAVES' DISEASE. Tissue: Thyroid. |
| [10] | "Identification of a novel partner of duox: EFP1, a thioredoxin-related protein." Wang D., De Deken X., Milenkovic M., Song Y., Pirson I., Dumont J.E., Miot F. J. Biol. Chem. 280:3096-3103(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH DUOX1; DUOX2 AND CYBA. |
| [11] | "Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis." Bikker H., Vulsma T., Baas F., de Vijlder J.J.M. Hum. Mutat. 6:9-16(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS TDH2A ASP-453; SER-590 AND LYS-799, VARIANTS SER-257; SER-373; THR-398 AND PRO-725. |
| [12] | "Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects." Bikker H., Baas F., De Vijlder J.J.M. J. Clin. Endocrinol. Metab. 82:649-653(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT TDH2A PHE-447. |
| [13] | "A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect." Santos C.L.S., Bikker H., Rego K.G.M., Nascimento A.C., Tambascia M., De Vijlder J.J.M., Medeiros-Neto G. Clin. Endocrinol. (Oxf.) 51:165-172(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT TDH2A GLU-660. |
| [14] | "Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping." Pannain S., Weiss R.E., Jackson C.E., Dian D., Beck J.C., Sheffield V.C., Cox N., Refetoff S. J. Clin. Endocrinol. Metab. 84:1061-1071(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS TDH2A GLN-648 AND LYS-799. |
| [15] | "A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect." Kotani T., Umeki K., Yamamoto I., Maesaka H., Tachibana K., Ohtaki S. J. Endocrinol. 160:267-273(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT TDH2A ASN-240, CHARACTERIZATION OF VARIANT TDH2A ASN-240. |
| [16] | "Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update)." Bakker B., Bikker H., Vulsma T., de Randamie J.S.E., Wiedijk B.M., De Vijlder J.J.M. J. Clin. Endocrinol. Metab. 85:3708-3712(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS TDH2A THR-326; PHE-447; ASP-453; CYS-527; TRP-693 AND LYS-799. |
| [17] | "Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism." Ambrugger P., Stoeva I., Biebermann H., Torresani T., Leitner C., Grueters A. Eur. J. Endocrinol. 145:19-24(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS TDH2A PRO-458 AND HIS-491. |
| [18] | "Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism." Umeki K., Kotani T., Kawano J., Suganuma T., Yamamoto I., Aratake Y., Furujo M., Ichiba Y. Eur. J. Endocrinol. 146:491-498(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS TDH2A TRP-665 AND ARG-771, CHARACTERIZATION OF VARIANTS TDH2A TRP-665 AND ARG-771. |
| [19] | "High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect." Niu D.-M., Hwang B., Chu Y.-K., Liao C.-J., Wang P.-L., Lin C.-Y. J. Clin. Endocrinol. Metab. 87:4208-4212(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT TDH2A PRO-53. |
| [20] | "Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect: identification of five novel mutations." Wu J.-Y., Shu S.-G., Yang C.-F., Lee C.-C., Tsai F.-J. J. Endocrinol. 172:627-635(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS TDH2A SER-493 AND TYR-796. |
| [21] | "Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach." Calaciura F., Miscio G., Coco A., Leonardi D., Cisternino C., Regalbuto C., Bozzali M., Maiorana R., Ranieri A., Carta A., Buscema M., Trischitta V., Sava L., Tassi V. Thyroid 12:945-951(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT TDH2A ILE-839. |
| [22] | "Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings." Kotani T., Umeki K., Kawano J., Suganuma T., Hishinuma A., Ieiri T., Harada S. Clin. Endocrinol. (Oxf.) 59:198-206(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS TDH2A CYS-533 AND ASP-574-575-LEU DEL, CHARACTERIZATION OF VARIANTS TDH2A CYS-533 AND ASP-574-575-LEU DEL. |
| [23] | "Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect." Rivolta C.M., Esperante S.A., Gruneiro-Papendieck L., Chiesa A., Moya C.M., Domene S., Varela V., Targovnik H.M. Hum. Mutat. 22:259-259(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS TDH2A THR-307; MET-433; LEU-499 AND ARG-808. |
| [24] | "Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect." Fugazzola L., Cerutti N., Mannavola D., Vannucchi G., Fallini C., Persani L., Beck-Peccoz P. J. Clin. Endocrinol. Metab. 88:3264-3271(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT TDH2A TRP-693. |
| [25] | "Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism." Tajima T., Tsubaki J., Fujieda K. Endocr. J. 52:643-645(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT TDH2A LYS-378. |
| [26] | "Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes." Pfarr N., Borck G., Turk A., Napiontek U., Keilmann A., Mueller-Forell W., Kopp P., Pohlenz J. J. Clin. Endocrinol. Metab. 91:2678-2681(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT TDH2A ASP-453. |
| + | Additional computationally mapped references. |
Web resources
| Wikipedia Thyroid peroxidase entry |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | J02969 mRNA. Translation: AAA61215.1. J02970 mRNA. Translation: AAA61216.1. Y00406 mRNA. Translation: CAA68467.1. M25715 M25714 Genomic DNA. Translation: AAA97517.1.X17358 mRNA. Translation: CAA35235.1. M17755 mRNA. Translation: AAA61217.2. AF439430 mRNA. Translation: AAL74416.1. AF533528 mRNA. Translation: AAN04471.1. AY136822 mRNA. Translation: AAN11302.1. AF533529 mRNA. Translation: AAN04472.1. AF533530 mRNA. Translation: AAN04473.1. AF533531 mRNA. Translation: AAN04474.1. M55702 mRNA. Translation: AAA61219.1. M55702 mRNA. Translation: AAA61218.1. |
| IPI | IPI00232922. IPI00232923. IPI00232924. IPI00289572. IPI00289573. IPI00289575. IPI00289576. IPI00335186. |
| PIR | OPHUIT. A32413. |
| RefSeq | NP_000538.3. NM_000547.5. NP_001193673.1. NM_001206744.1. NP_001193674.1. NM_001206745.1. NP_783650.1. NM_175719.3. NP_783652.1. NM_175721.3. NP_783653.1. NM_175722.3. |
| UniGene | Hs.467554. |
3D structure databases | |
| ProteinModelPortal | P07202. |
| ModBase | Search... |
Protein family/group databases | |
| Allergome | 9554. Hom s TPO. |
| PeroxiBase | 3318. HsTPO01. |
PTM databases | |
| PhosphoSite | P07202. |
Polymorphism databases | |
| DMDM | 160281455. |
Proteomic databases | |
| PaxDb | P07202. |
| PRIDE | P07202. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000329066; ENSP00000329869; ENSG00000115705. ENST00000345913; ENSP00000318820; ENSG00000115705. ENST00000346956; ENSP00000263886; ENSG00000115705. ENST00000349624; ENSP00000332044; ENSG00000115705. ENST00000382198; ENSP00000371633; ENSG00000115705. ENST00000382201; ENSP00000371636; ENSG00000115705. |
| GeneID | 7173. |
| KEGG | hsa:7173. |
| UCSC | uc002qwr.3. human. uc002qwu.3. human. uc010yio.2. human. uc010yip.2. human. |
Organism-specific databases | |
| CTD | 7173. |
| GeneCards | GC02P001396. |
| H-InvDB | HIX0029848. |
| HGNC | HGNC:12015. TPO. |
| HPA | CAB009587. HPA007987. |
| MIM | 274500. phenotype. 606765. gene. |
| neXtProt | NX_P07202. |
| Orphanet | 95716. Familial thyroid dyshormonogenesis. |
| PharmGKB | PA36694. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG262194. |
| HOVERGEN | HBG000071. |
| InParanoid | P07202. |
| KO | K00431. |
| OMA | IMETSIQ. |
| OrthoDB | EOG415GD3. |
| PhylomeDB | P07202. |
Enzyme and pathway databases | |
| Reactome | REACT_111217. Metabolism. |
| UniPathway | UPA00194. |
Gene expression databases | |
| ArrayExpress | P07202. |
| Bgee | P07202. |
| Genevestigator | P07202. |
| GermOnline | ENSG00000115705. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.10.640.10. 2 hits. |
| InterPro | IPR000742. EG-like_dom. IPR001881. EGF-like_Ca-bd. IPR013032. EGF-like_CS. IPR000152. EGF-type_Asp/Asn_hydroxyl_site. IPR018097. EGF_Ca-bd_CS. IPR010255. Haem_peroxidase. IPR002007. Haem_peroxidase_animal. IPR019791. Haem_peroxidase_animal_subgr. IPR000436. Sushi_SCR_CCP. [Graphical view] |
| Pfam | PF03098. An_peroxidase. 1 hit. PF07645. EGF_CA. 1 hit. [Graphical view] |
| PRINTS | PR00457. ANPEROXIDASE. |
| SMART | SM00032. CCP. 1 hit. SM00179. EGF_CA. 1 hit. [Graphical view] |
| SUPFAM | SSF57535. Complement_control_module. 1 hit. SSF48113. Peroxidase_super. 1 hit. |
| PROSITE | PS00010. ASX_HYDROXYL. 1 hit. PS00022. EGF_1. False negative. PS01186. EGF_2. 1 hit. PS50026. EGF_3. 1 hit. PS01187. EGF_CA. 1 hit. PS00435. PEROXIDASE_1. 1 hit. PS00436. PEROXIDASE_2. False negative. PS50292. PEROXIDASE_3. 1 hit. PS50923. SUSHI. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| BindingDB | P07202. |
| ChEMBL | CHEMBL1839. |
| ChiTaRS | TPO. human. |
| DrugBank | DB00389. Carbimazole. DB00763. Methimazole. DB00550. Propylthiouracil. |
| GenomeRNAi | 7173. |
| NextBio | 28112. |
| SOURCE | Search... |
Entry information
| Entry name | PERT_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P07202 Secondary accession number(s): P09934 Q8TCI9 | ||||||||
| Entry 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. | ||||||||
Relevant documents
| Human chromosome 2 Human chromosome 2: 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 |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with
