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Q86X45 (TILB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein tilB homolog
Alternative name(s):
Leucine-rich repeat-containing protein 6
Leucine-rich testis-specific protein
Testis-specific leucine-rich repeat protein
Gene names
Name:LRRC6
Synonyms:LRTP, TSLRP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length466 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play a role in dynein arm assembly, hence essential for proper axoneme building for cilia motility. Ref.3

Subcellular location

Cytoplasm. Cell projectioncilium Ref.3.

Tissue specificity

Expressed predominantly in testis and in nasal epithelial cells. Ref.3

Involvement in disease

Ciliary dyskinesia, primary, 19 (CILD19) [MIM:614935]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3

Sequence similarities

Belongs to the tilB family.

Contains 1 CS domain.

Contains 4 LRR (leucine-rich) repeats.

Contains 1 LRRCT domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q86X45-1)

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: Q86X45-2)

The sequence of this isoform differs from the canonical sequence as follows:
     409-414: RSKHME → SYSTGF
     415-466: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 466466Protein tilB homolog
PRO_0000084496

Regions

Repeat22 – 4322LRR 1
Repeat45 – 6622LRR 2
Repeat67 – 8822LRR 3
Repeat89 – 11022LRR 4
Domain123 – 16139LRRCT
Domain301 – 39696CS
Coiled coil178 – 20427 Potential
Compositional bias281 – 2866Poly-Lys

Natural variations

Alternative sequence409 – 4146RSKHME → SYSTGF in isoform 2.
VSP_015862
Alternative sequence415 – 46652Missing in isoform 2.
VSP_015863
Natural variant741A → P in CILD19. Ref.3
VAR_069038
Natural variant1461D → H in CILD19. Ref.3
Corresponds to variant rs200321595 [ dbSNP | Ensembl ].
VAR_069039
Natural variant2321T → I. Ref.1
Corresponds to variant rs2293979 [ dbSNP | Ensembl ].
VAR_023603
Natural variant4661I → T.
Corresponds to variant rs9297853 [ dbSNP | Ensembl ].
VAR_031223

Experimental info

Sequence conflict242 – 2443Missing in AAB02976. Ref.1
Sequence conflict349 – 3513Missing in AAH27589. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 20, 2007. Version 3.
Checksum: 4A3DBF849D5621C7

FASTA46654,255
        10         20         30         40         50         60 
MGWITEDLIR RNAEHNDCVI FSLEELSLHQ QEIERLEHID KWCRDLKILY LQNNLIGKIE 

        70         80         90        100        110        120 
NVSKLKKLEY LNLALNNIEK IENLEGCEEL AKLDLTVNFI GELSSIKNLQ HNIHLKELFL 

       130        140        150        160        170        180 
MGNPCASFDH YREFVVATLP QLKWLDGKEI EPSERIKALQ DYSVIEPQIR EQEKDHCLKR 

       190        200        210        220        230        240 
AKLKEEAQRK HQEEDKNEDK RSNAGFDGRW YTDINATLSS LESKDHLQAP DTEEHNTKKL 

       250        260        270        280        290        300 
DNSEDDLEFW NKPCLFTPES RLETLRHMEK QRKKQEKLSE KKKKVKPPRT LITEDGKALN 

       310        320        330        340        350        360 
VNEPKIDFSL KDNEKQIILD LAVYRYMDTS LIDVDVQPTY VRVMIKGKPF QLVLPAEVKP 

       370        380        390        400        410        420 
DSSSAKRSQT TGHLVICMPK VGEVITGGQR AFKSMKTTSD RSREQTNTRS KHMEKLEVDP 

       430        440        450        460 
SKHSFPDVTN IVQEKKHTPR RRPEPKIIPS EEDPTFEDNP EVPPLI 

« Hide

Isoform 2 [UniParc].

Checksum: 46FCCEC7CC304B2E
Show »

FASTA41448,119

References

« Hide 'large scale' references
[1]O'Hern P.A., Yavetz H., Moy T., Yavetz B., Liang Z.G., Wang G.Y., Goldberg E.
Submitted (JUN-1996) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ILE-232.
[2]"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).
Tissue: Brain and Testis.
[3]"Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia."
Kott E., Duquesnoy P., Copin B., Legendre M., Dastot-Le Moal F., Montantin G., Jeanson L., Tamalet A., Papon J.F., Siffroi J.P., Rives N., Mitchell V., de Blic J., Coste A., Clement A., Escalier D., Toure A., Escudier E., Amselem S.
Am. J. Hum. Genet. 91:958-964(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CILD19 PRO-74 AND HIS-146, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U60666 mRNA. Translation: AAB02976.1.
BC027589 mRNA. Translation: AAH27589.1.
BC047286 mRNA. Translation: AAH47286.1.
RefSeqNP_036604.2. NM_012472.4.
UniGeneHs.591865.

3D structure databases

ProteinModelPortalQ86X45.
SMRQ86X45. Positions 24-158.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ86X45.

Polymorphism databases

DMDM134047813.

Proteomic databases

PaxDbQ86X45.
PRIDEQ86X45.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000250173; ENSP00000250173; ENSG00000129295. [Q86X45-1]
ENST00000519595; ENSP00000429791; ENSG00000129295. [Q86X45-1]
GeneID23639.
KEGGhsa:23639.
UCSCuc003ytk.4. human. [Q86X45-1]

Organism-specific databases

CTD23639.
GeneCardsGC08M133653.
HGNCHGNC:16725. LRRC6.
HPAHPA021640.
HPA028058.
MIM614930. gene.
614935. phenotype.
neXtProtNX_Q86X45.
Orphanet244. Primary ciliary dyskinesia.
PharmGKBPA134921522.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG294986.
HOGENOMHOG000258801.
HOVERGENHBG053229.
InParanoidQ86X45.
OMAKKHTPRR.
OrthoDBEOG7KM5T7.
PhylomeDBQ86X45.
TreeFamTF324815.

Gene expression databases

ArrayExpressQ86X45.
BgeeQ86X45.
CleanExHS_LRRC6.
GenevestigatorQ86X45.

Family and domain databases

InterProIPR007052. CS_dom.
IPR001611. Leu-rich_rpt.
IPR003603. U2A'_phosphoprotein32A_C.
[Graphical view]
SMARTSM00446. LRRcap. 1 hit.
[Graphical view]
PROSITEPS51203. CS. 1 hit.
PS51450. LRR. 5 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi23639.
NextBio46433.
PROQ86X45.
SOURCESearch...

Entry information

Entry nameTILB_HUMAN
AccessionPrimary (citable) accession number: Q86X45
Secondary accession number(s): Q13648, Q4G183
Entry history
Integrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: March 20, 2007
Last modified: April 16, 2014
This is version 98 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM