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Q8NEP3 (DAAF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 105. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Dynein assembly factor 1, axonemal
Alternative name(s):
Leucine-rich repeat-containing protein 50
Gene names
Name:DNAAF1
Synonyms:LRRC50
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length725 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli. Ref.5 Ref.6 Ref.7

Subcellular location

Cell projectioncilium. Cytoplasm. Cytoplasmcytoskeletonspindle pole. Note: In HEK293T cells, it is diffusely cytoplasmic and concentrates at the mitotic spindle poles, while in MDCK cells, it localizes in the cilium. In vivo, this protein is probably restricted to the cilium. Ref.5

Tissue specificity

Mainly expressed in trachea and testis. Ref.7

Involvement in disease

Ciliary dyskinesia, primary, 13 (CILD13) [MIM:613193]: 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. At ultrastructural level, CILD13 is characterized by a marked reduction or absence of both dynein arms from the patients cilia.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7

Sequence similarities

Belongs to the DNAAF1 family.

Contains 6 LRR (leucine-rich) repeats.

Contains 1 LRRCT domain.

Sequence caution

The sequence BAB71645.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Cellular componentCell projection
Cilium
Cytoplasm
Cytoskeleton
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseCiliopathy
Disease mutation
Primary ciliary dyskinesia
   DomainLeucine-rich repeat
Repeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaxonemal dynein complex assembly

Inferred from mutant phenotype Ref.6Ref.7. Source: UniProtKB

cilium morphogenesis

Inferred from mutant phenotype Ref.5. Source: UniProtKB

cilium movement

Inferred from mutant phenotype Ref.7. Source: BHF-UCL

determination of digestive tract left/right asymmetry

Inferred from mutant phenotype Ref.7. Source: BHF-UCL

determination of liver left/right asymmetry

Inferred from mutant phenotype Ref.7. Source: BHF-UCL

determination of pancreatic left/right asymmetry

Inferred from mutant phenotype Ref.7. Source: BHF-UCL

epithelial cilium movement involved in determination of left/right asymmetry

Inferred by curator Ref.7. Source: BHF-UCL

heart looping

Inferred from mutant phenotype Ref.6Ref.7. Source: BHF-UCL

inner dynein arm assembly

Inferred from mutant phenotype Ref.6. Source: BHF-UCL

left/right pattern formation

Inferred from mutant phenotype Ref.6. Source: BHF-UCL

lung development

Inferred from mutant phenotype Ref.7. Source: BHF-UCL

motile cilium assembly

Inferred from mutant phenotype Ref.7. Source: BHF-UCL

outer dynein arm assembly

Inferred from mutant phenotype Ref.6. Source: BHF-UCL

regulation of cilium beat frequency

Inferred from mutant phenotype Ref.6. Source: BHF-UCL

   Cellular_componentaxoneme

Inferred from direct assay Ref.5. Source: UniProtKB

cytoplasm

Non-traceable author statement Ref.7. Source: BHF-UCL

nucleus

Inferred from direct assay. Source: HPA

plasma membrane

Inferred from direct assay. Source: HPA

spindle pole

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functiondynein binding

Inferred from mutant phenotype Ref.5. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NEP3-1)

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: Q8NEP3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-252: Missing.
     343-343: R → RGMRSAEDNSPRVPLRL
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8NEP3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     409-725: GPEPEGTLPA...LTAFPAPKAS → DPATVTACEG
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 725725Dynein assembly factor 1, axonemal
PRO_0000232889

Regions

Repeat107 – 12923LRR 1
Repeat130 – 15122LRR 2
Repeat152 – 17322LRR 3
Repeat174 – 19522LRR 4
Repeat196 – 21722LRR 5
Repeat221 – 24222LRR 6
Domain256 – 29439LRRCT
Compositional bias391 – 513123Pro-rich

Natural variations

Alternative sequence1 – 252252Missing in isoform 2.
VSP_036354
Alternative sequence3431R → RGMRSAEDNSPRVPLRL in isoform 2.
VSP_036355
Alternative sequence409 – 725317GPEPE…APKAS → DPATVTACEG in isoform 3.
VSP_036356
Natural variant42 – 11776Missing in CILD13.
VAR_063097
Natural variant1751L → R in CILD13. Ref.7
VAR_063098
Natural variant3871D → E.
Corresponds to variant rs36062234 [ dbSNP | Ensembl ].
VAR_047662
Natural variant3931K → R. Ref.1 Ref.3 Ref.4
Corresponds to variant rs17856705 [ dbSNP | Ensembl ].
VAR_047663
Natural variant4321E → D.
Corresponds to variant rs9972733 [ dbSNP | Ensembl ].
VAR_047664
Natural variant5021P → L. Ref.1 Ref.3 Ref.4
Corresponds to variant rs11644164 [ dbSNP | Ensembl ].
VAR_047665
Natural variant5451F → C. Ref.3
Corresponds to variant rs17856706 [ dbSNP | Ensembl ].
VAR_047666
Natural variant6331L → S. Ref.1 Ref.3
Corresponds to variant rs2288020 [ dbSNP | Ensembl ].
VAR_047667
Natural variant6591L → P. Ref.1 Ref.3
Corresponds to variant rs2288022 [ dbSNP | Ensembl ].
VAR_047668
Natural variant6591L → V.
Corresponds to variant rs2288021 [ dbSNP | Ensembl ].
VAR_047669
Natural variant6751S → T. Ref.1 Ref.3
Corresponds to variant rs2288023 [ dbSNP | Ensembl ].
VAR_047670
Natural variant7031G → R.
Corresponds to variant rs4150188 [ dbSNP | Ensembl ].
VAR_047671
Natural variant7121P → A.
Corresponds to variant rs4150187 [ dbSNP | Ensembl ].
VAR_047672

Experimental info

Sequence conflict3071Q → E in CAH10390. Ref.4
Sequence conflict3661P → L in CAH10394. Ref.4
Sequence conflict4571G → R in BAG58765. Ref.2
Sequence conflict4851D → G in CAH10394. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 25, 2008. Version 5.
Checksum: CFDBF86796FA61B0

FASTA72580,026
        10         20         30         40         50         60 
MHPEPSEPAT GGAAELDCAQ EPGVEESAGD HGSAGRGGCK EEINDPKEIC VGSSDTSYHS 

        70         80         90        100        110        120 
QQKQSGDNGS GGHFAHPRED REDRGPRMTK SSLQKLCKQH KLYITPALND TLYLHFKGFD 

       130        140        150        160        170        180 
RIENLEEYTG LRCLWLQSNG IQKIENLEAQ TELRCLFLQM NLLRKIENLE PLQKLDALNL 

       190        200        210        220        230        240 
SNNYIKTIEN LSCLPVLNTL QMAHNHLETV EDIQHLQECL RLCVLDLSHN KLSDPEILSI 

       250        260        270        280        290        300 
LESMPDLRVL NLMGNPVIRQ IPNYRRTVTV RLKHLTYLDD RPVFPKDRAC AEAWARGGYA 

       310        320        330        340        350        360 
AEKEERQQWE SRERKKITDS IEALAMIKQR AEERKRQRES QERGEMTSSD DGENVPASAE 

       370        380        390        400        410        420 
GKEEPPGDRE TRQKMELFVK ESFEAKDELC PEKPSGEEPP VEAKREDGGP EPEGTLPAET 

       430        440        450        460        470        480 
LLLSSPVEVK GEDGDGEPEG TLPAEAPPPP PPVEVKGEDG DQEPEGTLPA ETLLLSPPVK 

       490        500        510        520        530        540 
VKGEDGDREP EGTLPAEAPP PPPLGAAREE PTPQAVATEG VFVTELDGTR TEDLETIRLE 

       550        560        570        580        590        600 
TKETFCIDDL PDLEDDDETG KSLEDQNMCF PKIEVISSLS DDSDPELDYT SLPVLENLPT 

       610        620        630        640        650        660 
DTLSNIFAVS KDTSKAARVP FTDIFKKEAK RDLEIRKQDT KSPRPLIQEL SDEDPSGQLL 

       670        680        690        700        710        720 
MPPTCQRDAA PLTSSGDRDS DFLAASSPVP TESAATPPET CVGVAQPSQA LPTWDLTAFP 


APKAS 

« Hide

Isoform 2 [UniParc].

Checksum: 5661910591E86359
Show »

FASTA48953,531
Isoform 3 [UniParc].

Checksum: 2BF7BA4C8CE55708
Show »

FASTA41847,267

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), VARIANTS ARG-393; LEU-502; SER-633; PRO-659 AND THR-675.
Tissue: Subthalamic nucleus and Testis.
[2]"The sequence and analysis of duplication-rich human chromosome 16."
Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. expand/collapse author list , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"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] (ISOFORM 1), VARIANTS ARG-393; LEU-502; CYS-545; SER-633; PRO-659 AND THR-675.
Tissue: Testis.
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-548 AND 567-725 (ISOFORM 1), VARIANTS ARG-393 AND LEU-502.
Tissue: Testis.
[5]"LRRC50, a conserved ciliary protein implicated in polycystic kidney disease."
van Rooijen E., Giles R.H., Voest E.E., van Rooijen C., Schulte-Merker S., van Eeden F.J.
J. Am. Soc. Nephrol. 19:1128-1138(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
[6]"Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects."
Loges N.T., Olbrich H., Becker-Heck A., Haffner K., Heer A., Reinhard C., Schmidts M., Kispert A., Zariwala M.A., Leigh M.W., Knowles M.R., Zentgraf H., Seithe H., Nurnberg G., Nurnberg P., Reinhardt R., Omran H.
Am. J. Hum. Genet. 85:883-889(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INVOLVEMENT IN CILD13.
[7]"Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia."
Duquesnoy P., Escudier E., Vincensini L., Freshour J., Bridoux A.M., Coste A., Deschildre A., de Blic J., Legendre M., Montantin G., Tenreiro H., Vojtek A.M., Loussert C., Clement A., Escalier D., Bastin P., Mitchell D.R., Amselem S.
Am. J. Hum. Genet. 85:890-896(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, TISSUE SPECIFICITY, VARIANTS CILD13 42-GLU--LYS-117 DEL AND ARG-175.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK057238 mRNA. Translation: BAB71392.1.
AK058059 mRNA. Translation: BAB71645.1. Different initiation.
AK295990 mRNA. Translation: BAG58765.1.
AC009123 Genomic DNA. No translation available.
AC040169 Genomic DNA. No translation available.
BC024009 mRNA. Translation: AAH24009.3.
AL137334 mRNA. Translation: CAH10706.1.
AL833328 mRNA. Translation: CAH10390.1.
AL833336 mRNA. Translation: CAH10394.1.
CCDSCCDS10943.2. [Q8NEP3-1]
RefSeqNP_848547.4. NM_178452.4. [Q8NEP3-1]
UniGeneHs.310164.

3D structure databases

ProteinModelPortalQ8NEP3.
SMRQ8NEP3. Positions 85-298.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125839. 2 interactions.
STRING9606.ENSP00000367815.

PTM databases

PhosphoSiteQ8NEP3.

Polymorphism databases

DMDM215274261.

Proteomic databases

PaxDbQ8NEP3.
PRIDEQ8NEP3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000334315; ENSP00000334593; ENSG00000154099. [Q8NEP3-3]
ENST00000378553; ENSP00000367815; ENSG00000154099. [Q8NEP3-1]
ENST00000563093; ENSP00000457373; ENSG00000154099. [Q8NEP3-3]
GeneID123872.
KEGGhsa:123872.
UCSCuc002fhl.4. human. [Q8NEP3-1]
uc010vnw.2. human. [Q8NEP3-2]

Organism-specific databases

CTD123872.
GeneCardsGC16P084179.
GeneReviewsDNAAF1.
H-InvDBHIX0013289.
HGNCHGNC:30539. DNAAF1.
HPAHPA041166.
MIM613190. gene.
613193. phenotype.
neXtProtNX_Q8NEP3.
Orphanet244. Primary ciliary dyskinesia.
842. Testicular seminomatous germ cell tumor.
PharmGKBPA142671510.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG4886.
HOVERGENHBG066969.
InParanoidQ8NEP3.
OMACLFLQVN.
OrthoDBEOG7HQN7P.
PhylomeDBQ8NEP3.
TreeFamTF315818.

Gene expression databases

ArrayExpressQ8NEP3.
BgeeQ8NEP3.
CleanExHS_LRRC50.
GenevestigatorQ8NEP3.

Family and domain databases

InterProIPR027734. DNAAF1.
IPR001611. Leu-rich_rpt.
[Graphical view]
PANTHERPTHR10588:SF208. PTHR10588:SF208. 1 hit.
PROSITEPS51450. LRR. 6 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiLRRC50.
GenomeRNAi123872.
NextBio81173.
PROQ8NEP3.
SOURCESearch...

Entry information

Entry nameDAAF1_HUMAN
AccessionPrimary (citable) accession number: Q8NEP3
Secondary accession number(s): B4DJA3 expand/collapse secondary AC list , Q69YI8, Q69YJ0, Q69YW5, Q96LP3, Q96MB6
Entry history
Integrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: November 25, 2008
Last modified: July 9, 2014
This is version 105 of the entry and version 5 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM