B3DH20 (TILB_DANRE) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 22.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Protein TILB homolog Alternative name(s): Leucine-rich repeat-containing 6-like protein Leucine-rich repeat-containing protein 6 Seahorse | ||||
| Gene names |
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| Organism | Danio rerio (Zebrafish) (Brachydanio rerio) | ||||
| Taxonomic identifier | 7955 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Actinopterygii › Neopterygii › Teleostei › Ostariophysi › Cypriniformes › Cyprinidae › Danio |
Protein attributes
| Sequence length | 440 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Plays a crucial role in regulating cilia motility in pronephric tubules, cloaca and neural tube. Required for establishing left-right asymmetry of the body plan; controlls cell fate and convergent extension (CE) movements during gastrulation, respectively, via the Wnt and the planar cell polarity (PCP) signaling pathways. Required for the proper development of renal glomeruli and tubules. Ref.4 Ref.5 |
| Subunit structure | |
| Subcellular location | Cytoplasm. Cell projection. Note: Localized to cytoplasmic puncta in ciliated cells. In the semicircular canal, localized to kinocilia. Ref.3 Ref.4 |
| Tissue specificity | Expressed in kinocilia of hair cells. Ref.3 |
| Developmental stage | Maternally and zygotically expressed. Expressed in the embryo at the 256- and 512-cell, sphere and epiboly stages. Expressed in ciliated tissues, including Kupffer's vesicle, otic vesicle, pronephric duct and floor plate of the neural tube. Expressed in the floor plate and chordoneural hinge at 24 hpf. Expressed in the anteriormost tubules adjacent to the glomerular region at 36 hpf. Expressed in the pronephric tubules from mid-somitogenesis through 48 hpf. Ref.1 Ref.4 Ref.5 |
| Miscellaneous | Mutants show development of polycystic kidney disease and left-right (LR) asymmetry defects. |
| Sequence similarities | Belongs to the tilb protein family. Contains 1 CS domain. Contains 4 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell projection Cilium Cytoplasm |
| Domain | Leucine-rich repeat Repeat |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | cilium assembly Inferred from mutant phenotype. Source: ZFIN cilium movement involved in cell motilityInferred from mutant phenotype. Source: ZFIN dorsal/ventral pattern formationInferred from mutant phenotype. Source: ZFIN heart joggingInferred from mutant phenotype. Source: ZFIN heart loopingInferred from mutant phenotype. Source: ZFIN pronephros developmentInferred from mutant phenotype. Source: ZFIN |
| Cellular component | cytoplasm Inferred from direct assay. Source: ZFIN |
| Molecular function | protein binding Inferred from physical interaction. Source: ZFIN |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 440 | 440 | Protein TILB homolog | PRO_0000414859 | |||||
Regions | |||||||||
| Repeat | 20 – 43 | 24 | LRR 1 | ||||||
| Repeat | 44 – 65 | 22 | LRR 2 | ||||||
| Repeat | 66 – 89 | 24 | LRR 3 | ||||||
| Repeat | 90 – 110 | 21 | LRR 4 | ||||||
| Domain | 128 – 146 | 19 | LRRCT | ||||||
| Domain | 276 – 374 | 99 | CS | ||||||
Experimental info | |||||||||
| Sequence conflict | 99 | 1 | F → S in AAT39121. Ref.1 | ||||||
| Sequence conflict | 279 | 1 | P → R in AAT39121. Ref.1 | ||||||
| Sequence conflict | 286 | 1 | F → S in AAT39121. Ref.1 | ||||||
| Sequence conflict | 298 | 1 | H → N in AAT39121. Ref.1 | ||||||
| Sequence conflict | 367 | 1 | T → S in AAT39121. Ref.1 | ||||||
| Sequence conflict | 440 | 1 | M → V in AAT39121. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney." Sun Z., Amsterdam A., Pazour G.J., Cole D.G., Miller M.S., Hopkins N. Development 131:4085-4093(2004) [PubMed: 15269167] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], DEVELOPMENTAL STAGE. |
| [2] | NIH - Zebrafish Gene Collection (ZGC) project Submitted (APR-2008) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [3] | "Analysis and functional evaluation of the hair-cell transcriptome." McDermott B.M. Jr., Baucom J.M., Hudspeth A.J. Proc. Natl. Acad. Sci. U.S.A. 104:11820-11825(2007) [PubMed: 17606911] [Abstract] Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY. |
| [4] | "Cystic kidney gene seahorse regulates cilia-mediated processes and Wnt pathways." Kishimoto N., Cao Y., Park A., Sun Z. Dev. Cell 14:954-961(2008) [PubMed: 18539122] [Abstract] Cited for: FUNCTION, INTERACTION WITH DVL2, SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE. |
| [5] | "Mutations in zebrafish leucine-rich repeat-containing six-like affect cilia motility and result in pronephric cysts, but have variable effects on left-right patterning." Serluca F.C., Xu B., Okabe N., Baker K., Lin S.Y., Sullivan-Brown J., Konieczkowski D.J., Jaffe K.M., Bradner J.M., Fishman M.C., Burdine R.D. Development 136:1621-1631(2009) [PubMed: 19395640] [Abstract] Cited for: FUNCTION, INTERACTION WITH DVL2, DEVELOPMENTAL STAGE. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY618925 mRNA. Translation: AAT39121.1. BC162607 mRNA. Translation: AAI62607.1. |
| IPI | IPI00503760. |
| UniGene | Dr.80306. |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | B3DH20. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Organism-specific databases | |
| ZFIN | ZDB-GENE-040827-2. lrrc6. |
Phylogenomic databases | |
| eggNOG | fiNOG04888. |
| GeneTree | ENSGT00590000083127. |
| HOGENOM | HBG560571. |
| HOVERGEN | HBG053229. |
| OrthoDB | EOG40P46N. |
Gene expression databases | |
| Bgee | B3DH20. |
Family and domain databases | |
| InterPro | IPR001611. Leu-rich_rpt. IPR003603. U2A'_phosphoprotein32A_C. [Graphical view] |
| SMART | SM00446. LRRcap. 1 hit. [Graphical view] |
| PROSITE | PS51203. CS. False negative. PS51450. LRR. 4 hits. [Graphical view] |
| ProtoNet | Search... |
Entry information
| Entry name | TILB_DANRE | ||||||||
| Accession | Primary (citable) accession number: B3DH20 Secondary accession number(s): Q6IVV9 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
Relevant documents
| SIMILARITY comments Index of protein domains and families |

Clusters with