Q6YHU6 (THADA_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 64.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Thyroid adenoma-associated protein Alternative name(s): Gene inducing thyroid adenomas protein | ||||
| 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 | 1953 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Tissue specificity | Expressed in pancreas, adrenal medulla, thyroid, adrenal cortex, testis, thymus, small intestine and stomach. Ref.1 |
| Involvement in disease | Note=Chromosomal aberrations involving THADA have been observed in benign thyroid adenomas. Translocation t(2;3)(p21;p25) and translocation t(2;7)(p21;p15); the sequences derived from chromosomes 3p25 and 7p15 do not appear to include a coding region and the fusion events probably result in truncated THADA proteins. |
| Sequence similarities | Belongs to the THADA family. |
| Sequence caution | The sequence BAB15133.1 differs from that shown. Reason: Erroneous initiation. The sequence BAB15162.1 differs from that shown. Reason: Erroneous initiation. The sequence BAB21858.2 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Chromosomal rearrangement Polymorphism |
| Domain | Coiled coil |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Molecular function | binding Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6YHU6-1) 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: Q6YHU6-2) Also known as: GITA-A2; The sequence of this isoform differs from the canonical sequence as follows: 1-290: Missing. 1249-1279: Missing. | ||||||
| Isoform 3 (identifier: Q6YHU6-3) The sequence of this isoform differs from the canonical sequence as follows: 1280-1353: Missing. | ||||||
| Isoform 4 (identifier: Q6YHU6-4) The sequence of this isoform differs from the canonical sequence as follows: 1-1279: Missing. | ||||||
| Isoform 5 (identifier: Q6YHU6-5) The sequence of this isoform differs from the canonical sequence as follows: 937-937: N → K 938-1953: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1953 | 1953 | Thyroid adenoma-associated protein | PRO_0000344057 | |||||
Regions | |||||||||
| Coiled coil | 886 – 918 | 33 | Potential | ||||||
| Compositional bias | 4 – 7 | 4 | Poly-Lys | ||||||
| Compositional bias | 1322 – 1327 | 6 | Poly-Leu | ||||||
| Compositional bias | 1529 – 1532 | 4 | Poly-Ala | ||||||
Amino acid modifications | |||||||||
| Modified residue | 1031 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 1161 | 1 | Phosphoserine Ref.8 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 1279 | 1279 | Missing in isoform 4. | VSP_034730 | |||||
| Alternative sequence | 1 – 290 | 290 | Missing in isoform 2. | VSP_034731 | |||||
| Alternative sequence | 937 | 1 | N → K in isoform 5. | VSP_034732 | |||||
| Alternative sequence | 938 – 1953 | 1016 | Missing in isoform 5. | VSP_034733 | |||||
| Alternative sequence | 1249 – 1279 | 31 | Missing in isoform 2. | VSP_034734 | |||||
| Alternative sequence | 1280 – 1353 | 74 | Missing in isoform 3. | VSP_034735 | |||||
| Natural variant | 63 | 1 | E → G. Corresponds to variant rs10210191 [ dbSNP | Ensembl ]. | VAR_054070 | |||||
| Natural variant | 699 | 1 | V → I. Ref.2 Ref.3 Corresponds to variant rs17031056 [ dbSNP | Ensembl ]. | VAR_054071 | |||||
| Natural variant | 1187 | 1 | T → A. Corresponds to variant rs7578597 [ dbSNP | Ensembl ]. | VAR_054072 | |||||
| Natural variant | 1385 | 1 | T → S. Ref.5 Corresponds to variant rs33979934 [ dbSNP | Ensembl ]. | VAR_054073 | |||||
| Natural variant | 1451 | 1 | P → S. Corresponds to variant rs17334247 [ dbSNP | Ensembl ]. | VAR_054074 | |||||
| Natural variant | 1605 | 1 | C → Y. Ref.5 Corresponds to variant rs35720761 [ dbSNP | Ensembl ]. | VAR_054075 | |||||
| Natural variant | 1668 | 1 | C → R. Corresponds to variant rs17030648 [ dbSNP | Ensembl ]. | VAR_054076 | |||||
Experimental info | |||||||||
| Sequence conflict | 245 | 1 | Q → R in BAC86389. Ref.3 | ||||||
| Sequence conflict | 1507 | 1 | F → L in BAB15133. Ref.3 | ||||||
| Sequence conflict | 1709 | 1 | T → I in BAB15133. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification of a gene rearranged by 2p21 aberrations in thyroid adenomas." Rippe V., Drieschner N., Meiboom M., Murua Escobar H., Bonk U., Belge G., Bullerdiek J. Oncogene 22:6111-6114(2003) [PubMed: 12955091] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, CHROMOSOMAL TRANSLOCATIONS. |
| [2] | "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O. DNA Res. 7:347-355(2000) [PubMed: 11214970] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ILE-699. Tissue: Brain. |
| [3] | "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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 688-1953 (ISOFORM 3), VARIANT ILE-699. Tissue: Testis. |
| [4] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1118-1953 (ISOFORM 1), VARIANTS SER-1385 AND TYR-1605. Tissue: Brain, Pancreas and Skin. |
| [6] | "Novel protein interacting with death receptor." Puduvalli V.K., Ridgway L. Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1311-1953. |
| [7] | "A domain of the thyroid adenoma associated gene (THADA) conserved in vertebrates becomes destroyed by chromosomal rearrangements observed in thyroid adenomas." Drieschner N., Kerschling S., Soller J.T., Rippe V., Belge G., Bullerdiek J., Nimzyk R. Gene 403:110-117(2007) [PubMed: 17889454] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATIONS. |
| [8] | "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1031 AND SER-1161, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [9] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY149629 mRNA. Translation: AAO46785.1. AY149633 mRNA. Translation: AAO46789.1. AB051554 mRNA. Translation: BAB21858.2. Different initiation. AK025530 mRNA. Translation: BAB15162.1. Different initiation. AK025445 mRNA. Translation: BAB15133.1. Different initiation. AK126004 mRNA. Translation: BAC86389.1. AK290023 mRNA. Translation: BAF82712.1. AC010883 Genomic DNA. Translation: AAY14994.1. AC092838 Genomic DNA. Translation: AAX93154.1. BC007743 mRNA. Translation: AAH07743.1. BC025773 mRNA. Translation: AAH25773.1. BC105976 mRNA. Translation: AAI05977.1. AF323176 mRNA. Translation: AAK11318.1. |
| IPI | IPI00894197. IPI00900266. IPI00900350. IPI00917435. IPI01019074. |
| RefSeq | NP_001077422.1. NM_001083953.1. NP_071348.3. NM_022065.4. |
| UniGene | Hs.369592. |
3D structure databases | |
| ProteinModelPortal | Q6YHU6. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q6YHU6. 2 interactions. |
| STRING | Q6YHU6. |
Polymorphism databases | |
| DMDM | 74749519. |
Proteomic databases | |
| PRIDE | Q6YHU6. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000402360; ENSP00000385441; ENSG00000115970. ENST00000405006; ENSP00000385995; ENSG00000115970. ENST00000405975; ENSP00000386088; ENSG00000115970. ENST00000409142; ENSP00000387029; ENSG00000115970. |
| GeneID | 63892. |
| KEGG | hsa:63892. |
| UCSC | uc002rsw.2. human. |
Organism-specific databases | |
| CTD | 63892. |
| GeneCards | GC02M043393. |
| H-InvDB | HIX0002009. |
| HGNC | HGNC:19217. THADA. |
| HPA | HPA035191. |
| MIM | 611800. gene. |
| neXtProt | NX_Q6YHU6. |
| PharmGKB | PA134882460. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| GeneTree | ENSGT00390000015500. |
| HOVERGEN | HBG108565. |
| OrthoDB | EOG4MPHP9. |
| PhylomeDB | Q6YHU6. |
Gene expression databases | |
| ArrayExpress | Q6YHU6. |
| Bgee | Q6YHU6. |
| Genevestigator | Q6YHU6. |
Family and domain databases | |
| InterPro | IPR016024. ARM-type_fold. IPR019442. DUF2428_death-receptor-like. [Graphical view] |
| Pfam | PF10350. DUF2428. 1 hit. [Graphical view] |
| SUPFAM | SSF48371. ARM-type_fold. 1 hit. |
| ProtoNet | Search... |
Other | |
| NextBio | 65572. |
| SOURCE | Search... |
Entry information
| Entry name | THADA_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6YHU6 Secondary accession number(s): A8K1V8 Q9H6W7 | ||||||||
| Entry history |
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| 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with