HUMAN:DAAF1

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	DNAAF1 (synonyms: LRRC50)
Protein Name(s)	Dynein assembly factor 1, axonemal Leucine-rich repeat-containing protein 50
External Links
UniProt	Q8NEP3
EMBL	AK057238 AK058059 AK295990 AC009123 AC040169 BC024009 AL137334 AL833328 AL833336
CCDS	CCDS10943.2
RefSeq	NP_848547.4
UniGene	Hs.310164
ProteinModelPortal	Q8NEP3
SMR	Q8NEP3
BioGrid	125839
STRING	9606.ENSP00000367815
PhosphoSite	Q8NEP3
DMDM	215274261
PaxDb	Q8NEP3
PRIDE	Q8NEP3
Ensembl	ENST00000378553 ENST00000563093
GeneID	123872
KEGG	hsa:123872
UCSC	uc002fhl.4 uc010vnw.2
CTD	123872
GeneCards	GC16P084179
GeneReviews	DNAAF1
H-InvDB	HIX0013289
HGNC	HGNC:30539
HPA	HPA041166
MIM	613190 613193
neXtProt	NX_Q8NEP3
Orphanet	244
PharmGKB	PA142671510
eggNOG	COG4886
GeneTree	ENSGT00730000110223
HOVERGEN	HBG066969
InParanoid	Q8NEP3
OMA	CLFLQVN
OrthoDB	EOG7HQN7P
PhylomeDB	Q8NEP3
TreeFam	TF315818
ChiTaRS	DNAAF1
GeneWiki	LRRC50
GenomeRNAi	123872
NextBio	81173
PRO	PR:Q8NEP3
Proteomes	UP000005640
Bgee	Q8NEP3
CleanEx	HS_LRRC50
ExpressionAtlas	Q8NEP3
Genevestigator	Q8NEP3
GO	GO:0005930 GO:0005737 GO:0005634 GO:0005886 GO:0000922 GO:0045502 GO:0070286 GO:0060271 GO:0003341 GO:0071907 GO:0071910 GO:0035469 GO:0060287 GO:0001947 GO:0036159 GO:0060972 GO:0030324 GO:0044458 GO:0036158 GO:0003356
InterPro	IPR027734 IPR001611
PANTHER	PTHR10588:SF208
PROSITE	PS51450

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
involved_in	GO:0071910	determination of liver left/right asymmetry	PMID:19944405^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0071907	determination of digestive tract left/right asymmetry	PMID:19944405^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0060972	left/right pattern formation	PMID:19944400^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0060287	epithelial cilium movement involved in determination of left/right asymmetry	PMID:19944405^[1]	ECO:0000305	curator inference used in manual assertion	GO:0001947 GO:0003341	P	Seeded From UniProt	complete
involved_in	GO:0044458	motile cilium assembly	PMID:19944405^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0036159	inner dynein arm assembly	PMID:19944400^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0036158	outer dynein arm assembly	PMID:19944400^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0035469	determination of pancreatic left/right asymmetry	PMID:19944405^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0030324	lung development	PMID:19944405^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:19944405^[1]	ECO:0000303	author statement without traceable support used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0003356	regulation of cilium beat frequency	PMID:19944400^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0003341	cilium movement	PMID:19944405^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0001947	heart looping	PMID:19944405^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0001947	heart looping	PMID:19944400^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0070286	axonemal dynein complex assembly	PMID:19944400^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0070286	axonemal dynein complex assembly	PMID:19944405^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	PMID:18385425^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0070840	dynein complex binding	PMID:18385425^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:0005930	axoneme	PMID:18385425^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0070840	dynein complex binding	PMID:21873635^[4]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN002391874 UniProtKB:Q8NEP3	F	Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	PMID:21873635^[4]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN002391874 UniProtKB:Q8NEP3	P	Seeded From UniProt	complete
part_of	GO:0005930	axoneme	PMID:21873635^[4]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN002391874 UniProtKB:Q8NEP3	C	Seeded From UniProt	complete
part_of	GO:0016607	nuclear speck	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C	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: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
part_of	GO:0005737	cytoplasm	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963 UniProtKB-SubCell:SL-0086	C	Seeded From UniProt	complete
part_of	GO:0005856	cytoskeleton	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0206	C	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:0000922	spindle pole	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0448	C	Seeded From UniProt	complete
edit table

Notes

References

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

↑ ^1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 ^1.6 ^1.7 ^1.8 ^1.9 Duquesnoy, P et al. (2009) Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. Am. J. Hum. Genet. 85 890-6 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 Loges, NT et al. (2009) Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am. J. Hum. Genet. 85 883-9 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 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
↑ ^4.0 ^4.1 ^4.2 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:19944405-1] 1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 ^1.6 ^1.7 ^1.8 ^1.9 Duquesnoy, P et al. (2009) Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. Am. J. Hum. Genet. 85 890-6 PubMed GONUTS page

[PMID:19944400-2] 2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 Loges, NT et al. (2009) Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am. J. Hum. Genet. 85 883-9 PubMed GONUTS page

[PMID:18385425-3] 3.0 ^3.1 ^3.2 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:21873635-4] 4.0 ^4.1 ^4.2 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[1]

[2]

[3]

[4]

HUMAN:DAAF1

Contents

Annotations

Notes

References

a

c

d

e

h

i

l

m

n

o

p

r

s

v

Navigation menu

Personal tools

Namespaces

Variants

Views

More

Search

Navigation

Cacao

Links

Tools