LRRC6

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
Inferred from mutant phenotypeⁱ
- Ref.5
  "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.
epithelial cilium movement involved in determination of left/right asymmetry
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- Ref.5
  "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.
flagellated sperm motility
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- Ref.5
  "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.
inner dynein arm assembly
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- Ref.5
  "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.
male gonad development
Source: BHF-UCL
Inferred from sequence or structural similarityⁱ
- "Identification of a novel testis-specific leucine-rich protein in humans and mice."
  Xue J.-C., Goldberg E.
  Biol. Reprod. 62:1278-1284(2000) [PubMed] [Europe PMC] [Abstract]
motile cilium assembly
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- Ref.5
  "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.
outer dynein arm assembly
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- Ref.5
  "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.
reproductive system development
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- Ref.5
  "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.

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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 8

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:16725 LRRC6
MIMⁱ	614930 gene
neXtProtⁱ	NX_Q86X45

Keywords - Cellular componentⁱ

Cell projection, Cilium, Cytoplasm

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Ciliary dyskinesia, primary, 19 (CILD19)3 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.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_069038	74	A → P in CILD19. 1 PublicationCorresponds to variant dbSNP:rs397514596EnsemblClinVar.		1
Natural variantⁱVAR_069039	146	D → H in CILD19. 1 PublicationCorresponds to variant dbSNP:rs200321595EnsemblClinVar.		1

Keywords - Diseaseⁱ

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNET More...DisGeNETⁱ	23639
GeneReviewsⁱ	LRRC6
MalaCards human disease database More...MalaCardsⁱ	LRRC6
MIMⁱ	614935 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000129295
Orphanetⁱ	244 Primary ciliary dyskinesia
PharmGKBⁱ	PA134921522

Miscellaneous databases

Pharosⁱ	Q86X45

Pharosⁱ

Q86X45

Polymorphism and mutation databases

BioMutaⁱ	LRRC6
DMDMⁱ	134047813

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000084496	1 – 466	Protein tilB homologAdd BLAST		466

Proteomic databases

jPOSTⁱ	Q86X45
PaxDbⁱ	Q86X45
PeptideAtlas More...PeptideAtlasⁱ	Q86X45
PRIDEⁱ	Q86X45
ProteomicsDBⁱ	70236 [Q86X45-1] 70237 [Q86X45-2]

PTM databases

iPTMnetⁱ	Q86X45
PhosphoSitePlusⁱ	Q86X45

Expressionⁱ

Tissue specificityⁱ

Gene expression databases

Bgeeⁱ	ENSG00000129295 Expressed in 158 organ(s), highest expression level in testis
ExpressionAtlasⁱ	Q86X45 baseline and differential
Genevisibleⁱ	Q86X45 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA028058

HPAⁱ

HPA028058

Interactionⁱ

Subunit structureⁱ

Interacts (via CS domain) with ZMYND10 (via C-terminus).

2 Publications

Protein-protein interaction databases

BioGridⁱ	117167, 7 interactors
IntActⁱ	Q86X45, 15 interactors
Molecular INTeraction database More...MINTⁱ	Q86X45
STRINGⁱ	9606.ENSP00000484634

Structureⁱ

3D structure databases

SMRⁱ	Q86X45
ModBaseⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Repeatⁱ	22 – 43	LRR 1Add BLAST	22
Repeatⁱ	45 – 66	LRR 2Add BLAST	22
Repeatⁱ	67 – 88	LRR 3Add BLAST	22
Repeatⁱ	89 – 110	LRR 4Add BLAST	22
Domainⁱ	123 – 161	LRRCTAdd BLAST	39
Domainⁱ	301 – 396	CSPROSITE-ProRule annotationAdd BLAST	96

Coiled coil

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Coiled coilⁱ	178 – 204	Sequence analysisAdd BLAST		27

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	281 – 286	Poly-Lys		6

Sequence similaritiesⁱ

Belongs to the tilB family.Curated

Keywords - Domainⁱ

Coiled coil, Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGⁱ	KOG0531 Eukaryota COG4886 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000158506
HOGENOMⁱ	HOG000258801
InParanoidⁱ	Q86X45
KEGG Orthology (KO) More...KOⁱ	K19753
Database of Orthologous Groups More...OrthoDBⁱ	800324at2759
PhylomeDBⁱ	Q86X45
TreeFamⁱ	TF324815

Family and domain databases

Gene3Dⁱ	3.80.10.10, 1 hit
InterProⁱ	View protein in InterPro IPR007052 CS_dom IPR001611 Leu-rich_rpt IPR032675 LRR_dom_sf IPR003603 U2A'_phosphoprotein32A_C
SMARTⁱ	View protein in SMART SM00446 LRRcap, 1 hit
PROSITEⁱ	View protein in PROSITE PS51203 CS, 1 hit PS51450 LRR, 5 hits

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: Q86X45-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the canonicalⁱ 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]FASTA Add to basket

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

« 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 
RSREQTNTSY STGF

Show »

Length:414

Mass (Da):48,119

Checksum:ⁱ46FCCEC7CC304B2E

GO

Computationally mapped potential isoform sequencesⁱ

There are 5 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

A0A087X298	A0A087X298_HUMAN	Protein tilB homolog Protein tilB homolog	LRRC6	466	Annotation score:
H0YAS5	H0YAS5_HUMAN	Protein tilB homolog Protein tilB homolog	LRRC6	206	Annotation score:
G5EA20	G5EA20_HUMAN	Leucine rich repeat containing 6, i... Leucine rich repeat containing 6, isoform CRA_a (Protein tilB homolog)	LRRC6 hCG_32452	411	Annotation score:
E5RHF9	E5RHF9_HUMAN	Protein tilB homolog Protein tilB homolog	LRRC6	89	Annotation score:
H0YBC4	H0YBC4_HUMAN	Protein tilB homolog Protein tilB homolog	LRRC6	140	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	242 – 244	Missing in AAB02976 (Ref. 1) Curated		3
Sequence conflictⁱ	349 – 351	Missing in AAH27589 (PubMed:15489334).Curated		3

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_069038	74	A → P in CILD19. 1 PublicationCorresponds to variant dbSNP:rs397514596EnsemblClinVar.	1
Natural variantⁱVAR_069039	146	D → H in CILD19. 1 PublicationCorresponds to variant dbSNP:rs200321595EnsemblClinVar.	1
Natural variantⁱVAR_023603	232	T → I1 PublicationCorresponds to variant dbSNP:rs2293979EnsemblClinVar.	1
Natural variantⁱVAR_031223	466	I → T. Corresponds to variant dbSNP:rs9297853EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_015862	409 – 414	RSKHME → SYSTGF in isoform 2. 1 Publication		6
Alternative sequenceⁱVSP_015863	415 – 466	Missing in isoform 2. 1 PublicationAdd BLAST		52

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS6365.1 [Q86X45-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_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]

Genome annotation databases

Ensemblⁱ	ENST00000519595; ENSP00000429791; ENSG00000129295 [Q86X45-1] ENST00000620350; ENSP00000484634; ENSG00000129295 [Q86X45-1]
GeneIDⁱ	23639
KEGGⁱ	hsa:23639
UCSC genome browser More...UCSCⁱ	uc003ytk.5 human [Q86X45-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q86X45	Protein tilB homolog		MACFA		466	UniRef90_Q86X45
CS domain-containing protein		COLAP		536
CS domain-containing protein		PAPAN		467
Leucine rich repeat containing 6		GORGO		466
CS domain-containing protein		Cebus capucinus imitator		466
+70
Q86X45-2	LRRC6 isoform 11 (Fragment)		PANTR		349	UniRef90_Q86X45-2
UPI000511D016		PANTR		435

Protein	Similar proteins		Species	Score	Length	Source
Q86X45	Protein tilB homolog		MACFA		466	UniRef50_Q86X45
CS domain-containing protein		COLAP		536
CS domain-containing protein		PAPAN		467
CS domain-containing protein		CERAT		466
CS domain-containing protein		RHIRO		466
+138
Q86X45-2	LRRC6 isoform 11 (Fragment)		PANTR		349	UniRef50_Q86X45-2
Leucine rich repeat containing 6		POEFO		435
protein tilB homolog		CIOIN		443
Protein TILB		AMAAE		488
LRRcap domain-containing protein		CAMDR		444
+160

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
CCDSⁱ	CCDS6365.1 [Q86X45-1]
RefSeqⁱ	NP_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]

3D structure databases

SMRⁱ	Q86X45
ModBaseⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	117167, 7 interactors
IntActⁱ	Q86X45, 15 interactors
MINTⁱ	Q86X45
STRINGⁱ	9606.ENSP00000484634

PTM databases

iPTMnetⁱ	Q86X45
PhosphoSitePlusⁱ	Q86X45

Polymorphism and mutation databases

BioMutaⁱ	LRRC6
DMDMⁱ	134047813

Proteomic databases

jPOSTⁱ	Q86X45
PaxDbⁱ	Q86X45
PeptideAtlasⁱ	Q86X45
PRIDEⁱ	Q86X45
ProteomicsDBⁱ	70236 [Q86X45-1] 70237 [Q86X45-2]

Genome annotation databases

Ensemblⁱ	ENST00000519595; ENSP00000429791; ENSG00000129295 [Q86X45-1] ENST00000620350; ENSP00000484634; ENSG00000129295 [Q86X45-1]
GeneIDⁱ	23639
KEGGⁱ	hsa:23639
UCSCⁱ	uc003ytk.5 human [Q86X45-1]

Organism-specific databases

CTDⁱ	23639
DisGeNETⁱ	23639
GeneCardsⁱ	LRRC6
GeneReviewsⁱ	LRRC6
HGNCⁱ	HGNC:16725 LRRC6
HPAⁱ	HPA028058
MalaCardsⁱ	LRRC6
MIMⁱ	614930 gene 614935 phenotype
neXtProtⁱ	NX_Q86X45
OpenTargetsⁱ	ENSG00000129295
Orphanetⁱ	244 Primary ciliary dyskinesia
PharmGKBⁱ	PA134921522
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0531 Eukaryota COG4886 LUCA
GeneTreeⁱ	ENSGT00940000158506
HOGENOMⁱ	HOG000258801
InParanoidⁱ	Q86X45
KOⁱ	K19753
OrthoDBⁱ	800324at2759
PhylomeDBⁱ	Q86X45
TreeFamⁱ	TF324815

Miscellaneous databases

ChiTaRSⁱ	LRRC6 human
GenomeRNAiⁱ	23639
Pharosⁱ	Q86X45
Protein Ontology More...PROⁱ	PR:Q86X45
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000129295 Expressed in 158 organ(s), highest expression level in testis
ExpressionAtlasⁱ	Q86X45 baseline and differential
Genevisibleⁱ	Q86X45 HS

Family and domain databases

Gene3Dⁱ	3.80.10.10, 1 hit
InterProⁱ	View protein in InterPro IPR007052 CS_dom IPR001611 Leu-rich_rpt IPR032675 LRR_dom_sf IPR003603 U2A'_phosphoprotein32A_C
SMARTⁱ	View protein in SMART SM00446 LRRcap, 1 hit
PROSITEⁱ	View protein in PROSITE PS51203 CS, 1 hit PS51450 LRR, 5 hits
ProtoNetⁱ	Search...
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	TILB_HUMAN
Accessionⁱ	Q86X45Primary (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 16, 2019
	This is version 146 of the entry and version 3 of the sequence. See complete history.
Entry statusⁱ	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.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

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

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q86X45 (TILB_HUMAN)

Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the ‘basket’ to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>

Protein tilB homolog

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Other locations

Extracellular region or secreted

Other locations

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Miscellaneous databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Coiled coil

Compositional bias

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

UniProt is an ELIXIR core data resource

Your basket is currently empty. ⁱ

Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ