Q9BVV6 (TALD3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 81.
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: Protein TALPID3 | ||||
| Gene names |
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| 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 | 1533 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Required for ciliogenesis and sonic hedgehog/SHH signaling By similarity. |
| Subcellular location | |
| Sequence similarities | Belongs to the TALPID3 family. |
| Sequence caution | The sequence BAA25512.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Cilium biogenesis/degradation |
| Cellular component | Cytoplasm Cytoskeleton |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil |
| PTM | Isopeptide bond Ubl conjugation |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | cilium morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB smoothened signaling pathwayInferred from sequence or structural similarity. Source: UniProtKB |
| Cellular_component | centrosome Inferred from direct assay Ref.9PubMed 21399614. Source: UniProtKB cytoplasmInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9BVV6-1) 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: Q9BVV6-2) The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MKGSEVSLEKKKKIKM 538-613: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q9BVV6-3) The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MFWCGTCFVTNNMKGSEVSLEKKKKIKM 122-122: K → NVSLCLTGWSDHSGVITTHCSLYLLRLMRSSHLSLPSSWDYR 1485-1532: GKAVPLSASQ...EDMESSGADT → LGVHVKKVSC...RQPAQCLCHW | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q9BVV6-4) The sequence of this isoform differs from the canonical sequence as follows: 1-70: Missing. 122-122: K → NVSLCLTGWSDHSGVITTHCSLYLLRLMRSSHLSLPSSWDYR |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1533 | 1533 | Protein TALPID3 | PRO_0000050766 | |||||
Regions | |||||||||
| Region | 467 – 554 | 88 | Required for centrosomal localization By similarity | ||||||
| Coiled coil | 182 – 223 | 42 | Potential | ||||||
| Coiled coil | 467 – 501 | 35 | Potential | ||||||
| Compositional bias | 247 – 250 | 4 | Poly-Gln | ||||||
| Compositional bias | 1180 – 1187 | 8 | Poly-Pro | ||||||
Amino acid modifications | |||||||||
| Cross-link | 380 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.8 | |||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 70 | 70 | Missing in isoform 4. | VSP_046387 | |||||
| Alternative sequence | 1 | 1 | M → MKGSEVSLEKKKKIKM in isoform 2. | VSP_040642 | |||||
| Alternative sequence | 1 | 1 | M → MFWCGTCFVTNNMKGSEVSL EKKKKIKM in isoform 3. | VSP_046005 | |||||
| Alternative sequence | 122 | 1 | K → NVSLCLTGWSDHSGVITTHC SLYLLRLMRSSHLSLPSSWD YR in isoform 3 and isoform 4. | VSP_046006 | |||||
| Alternative sequence | 538 – 613 | 76 | Missing in isoform 2. | VSP_040643 | |||||
| Alternative sequence | 1485 – 1532 | 48 | GKAVP…SGADT → LGVHVKKVSCIGKLGLWRFV IQIISSPRWESSATLRFTDA PCQDVSDAAVSEPRGLLSVS ESQHNAGGHGVFGGRYLLNG KRQPAQCLCHW in isoform 3. | VSP_046007 | |||||
| Natural variant | 828 | 1 | L → P. Ref.1 Ref.2 Ref.3 Ref.5 Ref.7 Corresponds to variant rs1748986 [ dbSNP | Ensembl ]. | VAR_069108 | |||||
Experimental info | |||||||||
| Sequence conflict | 1041 | 1 | P → A in BAA25512. Ref.2 | ||||||
| Sequence conflict | 1041 | 1 | P → A in BAG64028. Ref.3 | ||||||
| Sequence conflict | 1041 | 1 | P → A in EAW80740. Ref.5 | ||||||
| Sequence conflict | 1041 | 1 | P → A in AAH66647. Ref.7 | ||||||
| Isoform 3: | |||||||||
| Sequence conflict | 1568 | 1 | L → P in BAG64028. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning an isoform of KIAA0586 gene related to spermatogenesis." Zhen Y., Huo R., Lu L., Xu M., Yin L.L., Xu Z.Y., Li J.M., Zhou Z.M., Sha J.H. Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), VARIANT PRO-828. |
| [2] | "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PRO-828. 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT PRO-828. Tissue: Testis. |
| [4] | "The DNA sequence and analysis of human chromosome 14." Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. Weissenbach J.Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT PRO-828. |
| [6] | "Proteomic characterization of the human centrosome by protein correlation profiling." Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M. Nature 426:570-574(2003) [PubMed] [Europe PMC] [Abstract] Cited for: MASS SPECTROMETRY, SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]. Tissue: Lymphoblast. |
| [7] | "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 1 AND 2), VARIANT PRO-828. Tissue: Placenta and Skin. |
| [8] | "Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry." Denis N.J., Vasilescu J., Lambert J.-P., Smith J.C., Figeys D. Proteomics 7:868-874(2007) [PubMed] [Europe PMC] [Abstract] Cited for: UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-380, MASS SPECTROMETRY. Tissue: Mammary cancer. |
| [9] | "The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation." Yin Y., Bangs F., Paton I.R., Prescott A., James J., Davey M.G., Whitley P., Genikhovich G., Technau U., Burt D.W., Tickle C. Development 136:655-664(2009) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY359881 mRNA. Translation: AAQ63404.1. AB011158 mRNA. Translation: BAA25512.2. Different initiation. AK302836 mRNA. Translation: BAG64028.1. AL135752 Genomic DNA. No translation available. AL139021 Genomic DNA. No translation available. CH471061 Genomic DNA. Translation: EAW80740.1. BC000900 mRNA. Translation: AAH00900.1. BC066647 mRNA. Translation: AAH66647.2. |
| IPI | IPI00006096. IPI00413612. IPI00941339. IPI01025575. |
| PIR | T00344. |
| RefSeq | NP_001231118.1. NM_001244189.1. NP_001231119.1. NM_001244190.1. NP_001231120.1. NM_001244191.1. NP_001231121.1. NM_001244192.1. |
| UniGene | Hs.232532. |
3D structure databases | |
| ProteinModelPortal | Q9BVV6. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000261244. |
PTM databases | |
| PhosphoSite | Q9BVV6. |
Polymorphism databases | |
| DMDM | 20140756. |
Proteomic databases | |
| PaxDb | Q9BVV6. |
| PRIDE | Q9BVV6. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000261244; ENSP00000261244; ENSG00000100578. ENST00000354386; ENSP00000346359; ENSG00000100578. ENST00000423743; ENSP00000399427; ENSG00000100578. ENST00000556134; ENSP00000452351; ENSG00000100578. |
| GeneID | 9786. |
| KEGG | hsa:9786. |
| UCSC | uc001xdu.4. human. |
Organism-specific databases | |
| CTD | 9786. |
| GeneCards | GC14P058894. |
| HGNC | HGNC:19960. KIAA0586. |
| HPA | HPA000846. |
| MIM | 610178. gene. |
| neXtProt | NX_Q9BVV6. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG40443. |
| HOGENOM | HOG000168599. |
| HOVERGEN | HBG052187. |
| InParanoid | Q9BVV6. |
| PhylomeDB | Q9BVV6. |
Gene expression databases | |
| ArrayExpress | Q9BVV6. |
| Bgee | Q9BVV6. |
| CleanEx | HS_KIAA0586. |
| Genevestigator | Q9BVV6. |
Family and domain databases | |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 9786. |
| NextBio | 36850. |
| SOURCE | Search... |
Entry information
| Entry name | TALD3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9BVV6 Secondary accession number(s): B4DZB6 Q6UV20 | ||||||||
| 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 14 Human chromosome 14: 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
