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B3DH20 (TILB_DANRE) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 22. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (1) | Third-party data text xml rdf/xml gff fasta
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Names and origin

Protein namesRecommended name:
Protein TILB homolog
Alternative name(s):
Leucine-rich repeat-containing 6-like protein
Leucine-rich repeat-containing protein 6
Seahorse
Gene names
Name:lrrc6
Synonyms:lrrc6l
OrganismDanio rerio (Zebrafish) (Brachydanio rerio)
Taxonomic identifier7955 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiActinopterygiiNeopterygiiTeleosteiOstariophysiCypriniformesCyprinidaeDanio

Protein attributes

Sequence length440 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Interacts with dvl2. Ref.4 Ref.5

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 440440Protein TILB homolog
PRO_0000414859

Regions

Repeat20 – 4324LRR 1
Repeat44 – 6522LRR 2
Repeat66 – 8924LRR 3
Repeat90 – 11021LRR 4
Domain128 – 14619LRRCT
Domain276 – 37499CS

Experimental info

Sequence conflict991F → S in AAT39121. Ref.1
Sequence conflict2791P → R in AAT39121. Ref.1
Sequence conflict2861F → S in AAT39121. Ref.1
Sequence conflict2981H → N in AAT39121. Ref.1
Sequence conflict3671T → S in AAT39121. Ref.1
Sequence conflict4401M → V in AAT39121. Ref.1

Sequences

Sequence LengthMass (Da)Tools
B3DH20 [UniParc].

Last modified July 22, 2008. Version 1.
Checksum: B6F42596AED6AAFE

FASTA44050,677
        10         20         30         40         50         60 
MVRISEDLIR RRAEHNNGEI FSLEELSLHQ QDIQRIEHIH KWCRDLKILY LQNNLIPKIE 

        70         80         90        100        110        120 
NVGRLKKLEY LNLALNNIEV IENLEGCESL QKLDLTVNFV GRLSSVETLK HNLHLKELYL 

       130        140        150        160        170        180 
VGNPCAEYQG YRQYVVATVP QLQSLDGKEI SRAERIQALQ ELDAVRTRVL QQETKYLEER 

       190        200        210        220        230        240 
EKQKSNANEH PEINQSLSES QNGTQQYPES SSKTHTEAED EEREFWEKPC PFTPESRLEA 

       250        260        270        280        290        300 
HRHLEEKRRA NEKEKEKPKT KTPRTLITPD GRVLNVNEPK LDFSLFEDEN NCLLLDLHVY 

       310        320        330        340        350        360 
RHMDSSLLDV DVQPMYVRVT VKGKVFQLVL PAEVKPDSSS AQRSQTTGHL LLILPLANED 

       370        380        390        400        410        420 
VKPKKRTIRP TSVTSNQNNK KDTRAAPRRE LLEVDPGLAG SLANIVPKGQ ESSHNPQRCG 

       430        440 
LEERPVSKDF VDDPEVPPLM 

« Hide

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.
IPIIPI00503760.
UniGeneDr.80306.

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

STRINGB3DH20.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Organism-specific databases

ZFINZDB-GENE-040827-2. lrrc6.

Phylogenomic databases

eggNOGfiNOG04888.
GeneTreeENSGT00590000083127.
HOGENOMHBG560571.
HOVERGENHBG053229.
OrthoDBEOG40P46N.

Gene expression databases

BgeeB3DH20.

Family and domain databases

InterProIPR001611. Leu-rich_rpt.
IPR003603. U2A'_phosphoprotein32A_C.
[Graphical view]
SMARTSM00446. LRRcap. 1 hit.
[Graphical view]
PROSITEPS51203. CS. False negative.
PS51450. LRR. 4 hits.
[Graphical view]
ProtoNetSearch...

Entry information

Entry nameTILB_DANRE
AccessionPrimary (citable) accession number: B3DH20
Secondary accession number(s): Q6IVV9
Entry history
Integrated into UniProtKB/Swiss-Prot: January 25, 2012
Last sequence update: July 22, 2008
Last modified: January 25, 2012
This is version 22 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families