DANRE:DAAF1

Species (Taxon ID)	Danio rerio (Zebrafish) (Brachydanio rerio). (7955)
Gene Name(s)	dnaaf1 (synonyms: lrrc50)
Protein Name(s)	Dynein assembly factor 1, axonemal Leucine-rich repeat-containing protein 50
External Links
UniProt	Q7ZV84
EMBL	BC045963
RefSeq	NP_942121.1
UniGene	Dr.84941
STRING	7955.ENSDARP00000090046
GeneID	386722
KEGG	dre:386722
CTD	123872
ZFIN	ZDB-GENE-031114-4
eggNOG	COG4886
HOVERGEN	HBG066969
InParanoid	Q7ZV84
PhylomeDB	Q7ZV84
NextBio	20813999
PRO	PR:Q7ZV84
Proteomes	UP000000437
GO	GO:0005930 GO:0045502 GO:0060271 GO:0044458
InterPro	IPR027734 IPR001611
PANTHER	PTHR10588:SF208
Pfam	PF13855
PROSITE	PS51450

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
involved_in	GO:0060271	cilium assembly	PMID:18385425^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0070840	dynein complex binding	PMID:18385425^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:0005930	axoneme	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8NEP3	C	Seeded From UniProt	complete
involved_in	GO:0061371	determination of heart left/right asymmetry	PMID:29228333^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion	ZFIN:ZDB-GENO-111028-1	P	Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	PMID:18385425^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion	ZFIN:ZDB-GENO-080916-1	P	Seeded From UniProt	complete
involved_in	GO:0060027	convergent extension involved in gastrulation	PMID:20179356^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion	ZFIN:ZDB-MRPHLNO-100319-1	P	Seeded From UniProt	complete
involved_in	GO:0048793	pronephros development	PMID:18385425^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion	ZFIN:ZDB-GENO-080916-1	P	Seeded From UniProt	complete
involved_in	GO:0035082	axoneme assembly	PMID:18385425^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion	ZFIN:ZDB-GENO-080916-1	P	Seeded From UniProt	complete
involved_in	GO:0007369	gastrulation	PMID:23599692^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	ZFIN:ZDB-MRPHLNO-100319-1	P	Seeded From UniProt	complete
involved_in	GO:0007368	determination of left/right symmetry	PMID:9334285^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0007368	determination of left/right symmetry	PMID:18784369^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion	ZFIN:ZDB-MRPHLNO-090225-1	P	Seeded From UniProt	complete
involved_in	GO:0007368	determination of left/right symmetry	PMID:18385425^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion	ZFIN:ZDB-GENO-080916-1	P	Seeded From UniProt	complete
involved_in	GO:0007283	spermatogenesis	PMID:27996046^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion	ZFIN:ZDB-GENO-130508-4	P	Seeded From UniProt	complete
involved_in	GO:0003314	heart rudiment morphogenesis	PMID:18784369^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion	ZFIN:ZDB-MRPHLNO-090225-1	P	Seeded From UniProt	complete
involved_in	GO:0003305	cell migration involved in heart jogging	PMID:18784369^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion	ZFIN:ZDB-MRPHLNO-090225-1	P	Seeded From UniProt	complete
involved_in	GO:0003146	heart jogging	PMID:9334285^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0003146	heart jogging	PMID:18784369^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion	ZFIN:ZDB-MRPHLNO-090225-1	P	Seeded From UniProt	complete
involved_in	GO:0003143	embryonic heart tube morphogenesis	PMID:9334285^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0001947	heart looping	PMID:9334285^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0001947	heart looping	PMID:29228333^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion	ZFIN:ZDB-GENO-111028-1	P	Seeded From UniProt	complete
involved_in	GO:0001947	heart looping	PMID:18784369^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion	ZFIN:ZDB-MRPHLNO-090225-1	P	Seeded From UniProt	complete
involved_in	GO:0044458	motile cilium assembly	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR027734	P	Seeded From UniProt	complete
part_of	GO:0042995	cell projection	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0966	C	Seeded From UniProt	complete
part_of	GO:0005929	cilium	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0969 UniProtKB-SubCell:SL-0066	C	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 van Rooijen, E et al. (2008) LRRC50, a conserved ciliary protein implicated in polycystic kidney disease. J. Am. Soc. Nephrol. 19 1128-38 PubMed GONUTS page
↑ ^2.0 ^2.1 Hartill, VL et al. (2018) DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Hum. Mol. Genet. 27 529-545 PubMed GONUTS page
↑ O'Toole, JF et al. (2010) Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J. Clin. Invest. 120 791-802 PubMed GONUTS page
↑ Basten, SG et al. (2013) Mutations in LRRC50 predispose zebrafish and humans to seminomas. PLoS Genet. 9 e1003384 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 ^5.3 Chen, JN et al. (1997) Left-right pattern of cardiac BMP4 may drive asymmetry of the heart in zebrafish. Development 124 4373-82 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 ^6.3 ^6.4 Baker, K et al. (2008) Direct and indirect roles for Nodal signaling in two axis conversions during asymmetric morphogenesis of the zebrafish heart. Proc. Natl. Acad. Sci. U.S.A. 105 13924-9 PubMed GONUTS page
↑ Litchfield, K et al. (2016) Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility. Nat Commun 7 13840 PubMed GONUTS page

[PMID:18385425-1] 1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 van Rooijen, E et al. (2008) LRRC50, a conserved ciliary protein implicated in polycystic kidney disease. J. Am. Soc. Nephrol. 19 1128-38 PubMed GONUTS page

[PMID:29228333-2] 2.0 ^2.1 Hartill, VL et al. (2018) DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Hum. Mol. Genet. 27 529-545 PubMed GONUTS page

[PMID:20179356-3] O'Toole, JF et al. (2010) Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J. Clin. Invest. 120 791-802 PubMed GONUTS page

[PMID:23599692-4] Basten, SG et al. (2013) Mutations in LRRC50 predispose zebrafish and humans to seminomas. PLoS Genet. 9 e1003384 PubMed GONUTS page

[PMID:9334285-5] 5.0 ^5.1 ^5.2 ^5.3 Chen, JN et al. (1997) Left-right pattern of cardiac BMP4 may drive asymmetry of the heart in zebrafish. Development 124 4373-82 PubMed GONUTS page

[PMID:18784369-6] 6.0 ^6.1 ^6.2 ^6.3 ^6.4 Baker, K et al. (2008) Direct and indirect roles for Nodal signaling in two axis conversions during asymmetric morphogenesis of the zebrafish heart. Proc. Natl. Acad. Sci. U.S.A. 105 13924-9 PubMed GONUTS page

[PMID:27996046-7] Litchfield, K et al. (2016) Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility. Nat Commun 7 13840 PubMed GONUTS page

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DANRE:DAAF1

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