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Q86X45

- TILB_HUMAN

UniProt

Q86X45 - TILB_HUMAN

Protein

Protein tilB homolog

Gene

LRRC6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 3 (20 Mar 2007)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    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

    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

    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

    ArrayExpressiQ86X45.
    BgeeiQ86X45.
    CleanExiHS_LRRC6.
    GenevestigatoriQ86X45.

    Organism-specific databases

    HPAiHPA021640.
    HPA028058.

    Interactioni

    Protein-protein interaction databases

    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.
    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

    MGWITEDLIR RNAEHNDCVI FSLEELSLHQ QEIERLEHID KWCRDLKILY    50
    LQNNLIGKIE NVSKLKKLEY LNLALNNIEK IENLEGCEEL AKLDLTVNFI 100
    GELSSIKNLQ HNIHLKELFL MGNPCASFDH YREFVVATLP QLKWLDGKEI 150
    EPSERIKALQ DYSVIEPQIR EQEKDHCLKR AKLKEEAQRK HQEEDKNEDK 200
    RSNAGFDGRW YTDINATLSS LESKDHLQAP DTEEHNTKKL DNSEDDLEFW 250
    NKPCLFTPES RLETLRHMEK QRKKQEKLSE KKKKVKPPRT LITEDGKALN 300
    VNEPKIDFSL KDNEKQIILD LAVYRYMDTS LIDVDVQPTY VRVMIKGKPF 350
    QLVLPAEVKP DSSSAKRSQT TGHLVICMPK VGEVITGGQR AFKSMKTTSD 400
    RSREQTNTRS KHMEKLEVDP SKHSFPDVTN IVQEKKHTPR RRPEPKIIPS 450
    EEDPTFEDNP EVPPLI 466
    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

    EnsembliENST00000250173; ENSP00000250173; ENSG00000129295. [Q86X45-1]
    ENST00000519595; ENSP00000429791; 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

    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 ENST00000250173 ; ENSP00000250173 ; ENSG00000129295 . [Q86X45-1 ]
    ENST00000519595 ; ENSP00000429791 ; ENSG00000129295 . [Q86X45-1 ]
    GeneIDi 23639.
    KEGGi hsa:23639.
    UCSCi uc003ytk.4. human. [Q86X45-1 ]

    Organism-specific databases

    CTDi 23639.
    GeneCardsi GC08M133653.
    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.
    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

    ArrayExpressi Q86X45.
    Bgeei Q86X45.
    CleanExi HS_LRRC6.
    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

    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 1, 2014
    This is version 102 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