Q86X45 (TILB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	LRRC6
Synonyms:	LRTP, TSLRP

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	466 AA.
Sequence status	Complete.
Protein existence	Evidence 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 projection › cilium Ref.3.
Tissue specificity	Expressed predominantly in testis and in nasal epithelial cells. Ref.3
Involvement in disease	Primary ciliary dyskinesia 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 protein family. Contains 1 CS domain. Contains 4 LRR (leucine-rich) repeats. Contains 1 LRRCT domain.

Ontologies

Keywords
Cellular component	Cell projection Cilium Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Ciliopathy Disease mutation Primary ciliary dyskinesia
Domain	Coiled coil Leucine-rich repeat Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	diplotene Inferred from sequence or structural similarity PubMed 10775177. Source: BHF-UCL epithelial cilium movement involved in determination of left/right asymmetry Inferred from mutant phenotype Ref.3. Source: BHF-UCL inner dynein arm assembly Inferred from mutant phenotype Ref.3. Source: BHF-UCL male gonad development Inferred from sequence or structural similarity PubMed 10775177. Source: BHF-UCL motile cilium assembly Inferred from mutant phenotype Ref.3. Source: BHF-UCL outer dynein arm assembly Inferred from mutant phenotype Ref.3. Source: BHF-UCL pachytene Inferred from sequence or structural similarity PubMed 10775177. Source: BHF-UCL sperm motility Inferred from mutant phenotype Ref.3. Source: BHF-UCL
Cellular_component	cilium Inferred from direct assay Ref.3. Source: BHF-UCL cytoplasm Inferred from direct assay Ref.3. Source: BHF-UCL
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 466	466	Protein TILB homolog		PRO_0000084496
Regions
	Repeat	22 – 43	22	LRR 1
	Repeat	45 – 66	22	LRR 2
	Repeat	67 – 88	22	LRR 3
	Repeat	89 – 110	22	LRR 4
	Domain	123 – 161	39	LRRCT
	Domain	301 – 396	96	CS
	Coiled coil	178 – 204	27	Potential
	Compositional bias	281 – 286	6	Poly-Lys
Natural variations
	Alternative sequence	409 – 414	6	RSKHME → SYSTGF in isoform 2.		VSP_015862
	Alternative sequence	415 – 466	52	Missing in isoform 2.		VSP_015863
	Natural variant	74	1	A → P in CILD19. Ref.3		VAR_069038
	Natural variant	146	1	D → H in CILD19. Ref.3 Corresponds to variant rs200321595 [ dbSNP | Ensembl ].		VAR_069039
	Natural variant	232	1	T → I. Ref.1 Corresponds to variant rs2293979 [ dbSNP | Ensembl ].		VAR_023603
	Natural variant	466	1	I → T. Corresponds to variant rs9297853 [ dbSNP | Ensembl ].		VAR_031223
Experimental info
	Sequence conflict	242 – 244	3	Missing in AAB02976. Ref.1
	Sequence conflict	349 – 351	3	Missing in AAH27589. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 20, 2007. Version 3. Checksum: 4A3DBF849D5621C7	FASTA	466	54,255
	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
	Isoform 2 [UniParc]. Checksum: 46FCCEC7CC304B2E	FASTA	414	48,119
	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 DSSSAKRSQT TGHLVICMPK VGEVITGGQR AFKSMKTTSD RSREQTNTSY STGF

References

	« Hide 'large scale' referencesShow '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.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U60666 mRNA. Translation: AAB02976.1. BC027589 mRNA. Translation: AAH27589.1. BC047286 mRNA. Translation: AAH47286.1.
IPI	IPI00180190. IPI00651698.
RefSeq	NP_036604.2. NM_012472.4.
UniGene	Hs.591865.
3D structure databases
ProteinModelPortal	Q86X45.
ModBase	Search...
PTM databases
PhosphoSite	Q86X45.
Polymorphism databases
DMDM	134047813.
Proteomic databases
PaxDb	Q86X45.
PRIDE	Q86X45.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000250173; ENSP00000250173; ENSG00000129295. ENST00000519595; ENSP00000429791; ENSG00000129295.
GeneID	23639.
KEGG	hsa:23639.
UCSC	uc003ytk.3. human.
Organism-specific databases
CTD	23639.
GeneCards	GC08M133653.
HGNC	HGNC:16725. LRRC6.
HPA	HPA021640. HPA028058.
MIM	614930. gene. 614935. phenotype.
neXtProt	NX_Q86X45.
PharmGKB	PA134921522.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG294986.
HOGENOM	HOG000258801.
HOVERGEN	HBG053229.
InParanoid	Q86X45.
OMA	DFDGYRQ.
OrthoDB	EOG40P46N.
PhylomeDB	Q86X45.
Gene expression databases
ArrayExpress	Q86X45.
Bgee	Q86X45.
CleanEx	HS_LRRC6.
Genevestigator	Q86X45.
GermOnline	ENSG00000129295. Homo sapiens.
Family and domain databases
InterPro	IPR007052. CS-like_domain. IPR001611. Leu-rich_rpt. IPR025875. Leu-rich_rpt_4. IPR003603. U2A'_phosphoprotein32A_C. [Graphical view]
Pfam	PF12799. LRR_4. 1 hit. [Graphical view]
SMART	SM00446. LRRcap. 1 hit. [Graphical view]
PROSITE	PS51203. CS. 1 hit. PS51450. LRR. 5 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	23639.
NextBio	46433.
SOURCE	Search...

Entry information

Entry name

TILB_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 88 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.