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Protein

Protein tilB homolog

Gene

LRRC6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • cilium movement Source: BHF-UCL
  • epithelial cilium movement involved in determination of left/right asymmetry Source: BHF-UCL
  • flagellated sperm motility Source: BHF-UCL
  • inner dynein arm assembly Source: BHF-UCL
  • male gonad development Source: BHF-UCL
  • motile cilium assembly Source: BHF-UCL
  • outer dynein arm assembly Source: BHF-UCL
  • reproductive system development 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
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:16725. LRRC6.

Subcellular locationi

GO - Cellular componenti

  • cilium Source: BHF-UCL
  • cytoplasm Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 19 (CILD19)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614935
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06903874A → P in CILD19. 1 PublicationCorresponds to variant rs397514596dbSNPEnsembl.1
Natural variantiVAR_069039146D → H in CILD19. 1 PublicationCorresponds to variant rs200321595dbSNPEnsembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi23639.
MalaCardsiLRRC6.
MIMi614935. phenotype.
OpenTargetsiENSG00000129295.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA134921522.

Polymorphism and mutation databases

DMDMi134047813.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000844961 – 466Protein tilB homologAdd BLAST466

Proteomic databases

PaxDbiQ86X45.
PeptideAtlasiQ86X45.
PRIDEiQ86X45.

PTM databases

iPTMnetiQ86X45.
PhosphoSitePlusiQ86X45.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000129295.
CleanExiHS_LRRC6.
ExpressionAtlasiQ86X45. baseline and differential.
GenevisibleiQ86X45. HS.

Organism-specific databases

HPAiHPA028058.

Interactioni

Protein-protein interaction databases

BioGridi117167. 5 interactors.
IntActiQ86X45. 6 interactors.
STRINGi9606.ENSP00000250173.

Structurei

3D structure databases

ProteinModelPortaliQ86X45.
SMRiQ86X45.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati22 – 43LRR 1Add BLAST22
Repeati45 – 66LRR 2Add BLAST22
Repeati67 – 88LRR 3Add BLAST22
Repeati89 – 110LRR 4Add BLAST22
Domaini123 – 161LRRCTAdd BLAST39
Domaini301 – 396CSPROSITE-ProRule annotationAdd BLAST96

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili178 – 204Sequence analysisAdd BLAST27

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi281 – 286Poly-Lys6

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

eggNOGiKOG0531. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00860000133819.
HOGENOMiHOG000258801.
HOVERGENiHBG053229.
InParanoidiQ86X45.
KOiK19753.
PhylomeDBiQ86X45.
TreeFamiTF324815.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR007052. CS_dom.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003603. U2A'_phosphoprotein32A_C.
[Graphical view]
SMARTiSM00446. LRRcap. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
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. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Sequence conflicti242 – 244Missing in AAB02976 (Ref. 1) Curated3
Sequence conflicti349 – 351Missing in AAH27589 (PubMed:15489334).Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06903874A → P in CILD19. 1 PublicationCorresponds to variant rs397514596dbSNPEnsembl.1
Natural variantiVAR_069039146D → H in CILD19. 1 PublicationCorresponds to variant rs200321595dbSNPEnsembl.1
Natural variantiVAR_023603232T → I.1 PublicationCorresponds to variant rs2293979dbSNPEnsembl.1
Natural variantiVAR_031223466I → T.Corresponds to variant rs9297853dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_015862409 – 414RSKHME → SYSTGF in isoform 2. 1 Publication6
Alternative sequenceiVSP_015863415 – 466Missing in isoform 2. 1 PublicationAdd BLAST52

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U60666 mRNA. Translation: AAB02976.1.
BC027589 mRNA. Translation: AAH27589.1.
BC047286 mRNA. Translation: AAH47286.1.
CCDSiCCDS6365.1. [Q86X45-1]
RefSeqiNP_001308890.1. NM_001321961.1.
NP_001308891.1. NM_001321962.1.
NP_001308892.1. NM_001321963.1.
NP_001308893.1. NM_001321964.1.
NP_001308894.1. NM_001321965.1.
NP_001308895.1. NM_001321966.1.
NP_036604.2. NM_012472.5. [Q86X45-1]
UniGeneiHs.591865.
Hs.597536.
Hs.618717.

Genome annotation databases

EnsembliENST00000519595; ENSP00000429791; ENSG00000129295. [Q86X45-1]
ENST00000620350; ENSP00000484634; ENSG00000129295. [Q86X45-1]
GeneIDi23639.
KEGGihsa:23639.
UCSCiuc003ytk.5. human. [Q86X45-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U60666 mRNA. Translation: AAB02976.1.
BC027589 mRNA. Translation: AAH27589.1.
BC047286 mRNA. Translation: AAH47286.1.
CCDSiCCDS6365.1. [Q86X45-1]
RefSeqiNP_001308890.1. NM_001321961.1.
NP_001308891.1. NM_001321962.1.
NP_001308892.1. NM_001321963.1.
NP_001308893.1. NM_001321964.1.
NP_001308894.1. NM_001321965.1.
NP_001308895.1. NM_001321966.1.
NP_036604.2. NM_012472.5. [Q86X45-1]
UniGeneiHs.591865.
Hs.597536.
Hs.618717.

3D structure databases

ProteinModelPortaliQ86X45.
SMRiQ86X45.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117167. 5 interactors.
IntActiQ86X45. 6 interactors.
STRINGi9606.ENSP00000250173.

PTM databases

iPTMnetiQ86X45.
PhosphoSitePlusiQ86X45.

Polymorphism and mutation databases

DMDMi134047813.

Proteomic databases

PaxDbiQ86X45.
PeptideAtlasiQ86X45.
PRIDEiQ86X45.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000519595; ENSP00000429791; ENSG00000129295. [Q86X45-1]
ENST00000620350; ENSP00000484634; ENSG00000129295. [Q86X45-1]
GeneIDi23639.
KEGGihsa:23639.
UCSCiuc003ytk.5. human. [Q86X45-1]

Organism-specific databases

CTDi23639.
DisGeNETi23639.
GeneCardsiLRRC6.
GeneReviewsiLRRC6.
HGNCiHGNC:16725. LRRC6.
HPAiHPA028058.
MalaCardsiLRRC6.
MIMi614930. gene.
614935. phenotype.
neXtProtiNX_Q86X45.
OpenTargetsiENSG00000129295.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA134921522.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0531. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00860000133819.
HOGENOMiHOG000258801.
HOVERGENiHBG053229.
InParanoidiQ86X45.
KOiK19753.
PhylomeDBiQ86X45.
TreeFamiTF324815.

Miscellaneous databases

ChiTaRSiLRRC6. human.
GenomeRNAii23639.
PROiQ86X45.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000129295.
CleanExiHS_LRRC6.
ExpressionAtlasiQ86X45. baseline and differential.
GenevisibleiQ86X45. HS.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR007052. CS_dom.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003603. U2A'_phosphoprotein32A_C.
[Graphical view]
SMARTiSM00446. LRRcap. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS51203. CS. 1 hit.
PS51450. LRR. 5 hits.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 123 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.