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Q86X45

- TILB_HUMAN

UniProt

Q86X45 - TILB_HUMAN

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Protein

Protein tilB homolog

Gene

LRRC6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

May play a role in dynein arm assembly, hence essential for proper axoneme building for cilia motility.1 Publication

GO - Biological processi

  1. cilium movement Source: BHF-UCL
  2. epithelial cilium movement involved in determination of left/right asymmetry Source: BHF-UCL
  3. inner dynein arm assembly Source: BHF-UCL
  4. male gonad development Source: BHF-UCL
  5. motile cilium assembly Source: BHF-UCL
  6. outer dynein arm assembly Source: BHF-UCL
  7. reproductive system development Source: BHF-UCL
  8. sperm motility Source: BHF-UCL
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:LRRC6
Synonyms:LRTP, TSLRP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:16725. LRRC6.

Subcellular locationi

Cytoplasm 1 Publication. Cell projectioncilium 1 Publication

GO - Cellular componenti

  1. cilium Source: BHF-UCL
  2. cytoplasm Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti74 – 741A → P in CILD19. 1 Publication
VAR_069038
Natural varianti146 – 1461D → H in CILD19. 1 Publication
Corresponds to variant rs200321595 [ dbSNP | Ensembl ].
VAR_069039

Keywords - Diseasei

Ciliopathy, Disease mutation, Primary ciliary dyskinesia

Organism-specific databases

MIMi614935. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA134921522.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 466466Protein tilB homologPRO_0000084496Add
BLAST

Proteomic databases

PaxDbiQ86X45.
PRIDEiQ86X45.

PTM databases

PhosphoSiteiQ86X45.

Expressioni

Tissue specificityi

Expressed predominantly in testis and in nasal epithelial cells.1 Publication

Gene expression databases

BgeeiQ86X45.
CleanExiHS_LRRC6.
ExpressionAtlasiQ86X45. baseline and differential.
GenevestigatoriQ86X45.

Organism-specific databases

HPAiHPA021640.
HPA028058.

Interactioni

Protein-protein interaction databases

BioGridi117167. 1 interaction.
IntActiQ86X45. 3 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ86X45.
SMRiQ86X45. Positions 24-158.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati22 – 4322LRR 1Add
BLAST
Repeati45 – 6622LRR 2Add
BLAST
Repeati67 – 8822LRR 3Add
BLAST
Repeati89 – 11022LRR 4Add
BLAST
Domaini123 – 16139LRRCTAdd
BLAST
Domaini301 – 39696CSPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili178 – 20427Sequence AnalysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi281 – 2866Poly-Lys

Sequence similaritiesi

Belongs to the tilB family.Curated
Contains 1 CS domain.PROSITE-ProRule annotation
Contains 4 LRR (leucine-rich) repeats.Curated
Contains 1 LRRCT domain.Curated

Keywords - Domaini

Coiled coil, Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiNOG294986.
GeneTreeiENSGT00720000108813.
HOGENOMiHOG000258801.
HOVERGENiHBG053229.
InParanoidiQ86X45.
OMAiEHNNCEI.
OrthoDBiEOG7KM5T7.
PhylomeDBiQ86X45.
TreeFamiTF324815.

Family and domain databases

InterProiIPR007052. CS_dom.
IPR001611. Leu-rich_rpt.
IPR003603. U2A'_phosphoprotein32A_C.
[Graphical view]
SMARTiSM00446. LRRcap. 1 hit.
[Graphical view]
PROSITEiPS51203. CS. 1 hit.
PS51450. LRR. 5 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q86X45-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MGWITEDLIR RNAEHNDCVI FSLEELSLHQ QEIERLEHID KWCRDLKILY
60 70 80 90 100
LQNNLIGKIE NVSKLKKLEY LNLALNNIEK IENLEGCEEL AKLDLTVNFI
110 120 130 140 150
GELSSIKNLQ HNIHLKELFL MGNPCASFDH YREFVVATLP QLKWLDGKEI
160 170 180 190 200
EPSERIKALQ DYSVIEPQIR EQEKDHCLKR AKLKEEAQRK HQEEDKNEDK
210 220 230 240 250
RSNAGFDGRW YTDINATLSS LESKDHLQAP DTEEHNTKKL DNSEDDLEFW
260 270 280 290 300
NKPCLFTPES RLETLRHMEK QRKKQEKLSE KKKKVKPPRT LITEDGKALN
310 320 330 340 350
VNEPKIDFSL KDNEKQIILD LAVYRYMDTS LIDVDVQPTY VRVMIKGKPF
360 370 380 390 400
QLVLPAEVKP DSSSAKRSQT TGHLVICMPK VGEVITGGQR AFKSMKTTSD
410 420 430 440 450
RSREQTNTRS KHMEKLEVDP SKHSFPDVTN IVQEKKHTPR RRPEPKIIPS
460
EEDPTFEDNP EVPPLI
Length:466
Mass (Da):54,255
Last modified:March 20, 2007 - v3
Checksum:i4A3DBF849D5621C7
GO
Isoform 2 (identifier: Q86X45-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:414
Mass (Da):48,119
Checksum:i46FCCEC7CC304B2E
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti242 – 2443Missing in AAB02976. 1 PublicationCurated
Sequence conflicti349 – 3513Missing in AAH27589. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti74 – 741A → P in CILD19. 1 Publication
VAR_069038
Natural varianti146 – 1461D → H in CILD19. 1 Publication
Corresponds to variant rs200321595 [ dbSNP | Ensembl ].
VAR_069039
Natural varianti232 – 2321T → I.1 Publication
Corresponds to variant rs2293979 [ dbSNP | Ensembl ].
VAR_023603
Natural varianti466 – 4661I → T.
Corresponds to variant rs9297853 [ dbSNP | Ensembl ].
VAR_031223

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei409 – 4146RSKHME → SYSTGF in isoform 2. 1 PublicationVSP_015862
Alternative sequencei415 – 46652Missing in isoform 2. 1 PublicationVSP_015863Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U60666 mRNA. Translation: AAB02976.1.
BC027589 mRNA. Translation: AAH27589.1.
BC047286 mRNA. Translation: AAH47286.1.
CCDSiCCDS6365.1. [Q86X45-1]
RefSeqiNP_036604.2. NM_012472.4. [Q86X45-1]
UniGeneiHs.591865.

Genome annotation databases

EnsembliENST00000519595; ENSP00000429791; ENSG00000129295. [Q86X45-1]
ENST00000620350; ENSP00000484634; ENSG00000129295. [Q86X45-1]
GeneIDi23639.
KEGGihsa:23639.
UCSCiuc003ytk.4. human. [Q86X45-1]

Polymorphism databases

DMDMi134047813.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U60666 mRNA. Translation: AAB02976.1 .
BC027589 mRNA. Translation: AAH27589.1 .
BC047286 mRNA. Translation: AAH47286.1 .
CCDSi CCDS6365.1. [Q86X45-1 ]
RefSeqi NP_036604.2. NM_012472.4. [Q86X45-1 ]
UniGenei Hs.591865.

3D structure databases

ProteinModelPortali Q86X45.
SMRi Q86X45. Positions 24-158.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117167. 1 interaction.
IntActi Q86X45. 3 interactions.

PTM databases

PhosphoSitei Q86X45.

Polymorphism databases

DMDMi 134047813.

Proteomic databases

PaxDbi Q86X45.
PRIDEi Q86X45.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000519595 ; ENSP00000429791 ; ENSG00000129295 . [Q86X45-1 ]
ENST00000620350 ; ENSP00000484634 ; ENSG00000129295 . [Q86X45-1 ]
GeneIDi 23639.
KEGGi hsa:23639.
UCSCi uc003ytk.4. human. [Q86X45-1 ]

Organism-specific databases

CTDi 23639.
GeneCardsi GC08M133584.
GeneReviewsi LRRC6.
HGNCi HGNC:16725. LRRC6.
HPAi HPA021640.
HPA028058.
MIMi 614930. gene.
614935. phenotype.
neXtProti NX_Q86X45.
Orphaneti 244. Primary ciliary dyskinesia.
PharmGKBi PA134921522.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG294986.
GeneTreei ENSGT00720000108813.
HOGENOMi HOG000258801.
HOVERGENi HBG053229.
InParanoidi Q86X45.
OMAi EHNNCEI.
OrthoDBi EOG7KM5T7.
PhylomeDBi Q86X45.
TreeFami TF324815.

Miscellaneous databases

GenomeRNAii 23639.
NextBioi 46433.
PROi Q86X45.
SOURCEi Search...

Gene expression databases

Bgeei Q86X45.
CleanExi HS_LRRC6.
ExpressionAtlasi Q86X45. baseline and differential.
Genevestigatori Q86X45.

Family and domain databases

InterProi IPR007052. CS_dom.
IPR001611. Leu-rich_rpt.
IPR003603. U2A'_phosphoprotein32A_C.
[Graphical view ]
SMARTi SM00446. LRRcap. 1 hit.
[Graphical view ]
PROSITEi PS51203. CS. 1 hit.
PS51450. LRR. 5 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiTILB_HUMAN
AccessioniPrimary (citable) accession number: Q86X45
Secondary accession number(s): Q13648, Q4G183
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: March 20, 2007
Last modified: October 29, 2014
This is version 103 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3