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Q8N9W5 (DAAF3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 82. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | 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 3, axonemal
Gene names
Name:DNAAF3
Synonyms:C19orf51
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length541 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia. Ref.4

Subcellular location

Cytoplasm By similarity.

Involvement in disease

Ciliary dyskinesia, primary, 2 (CILD2) [MIM:606763]: 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.4

Sequence similarities

Belongs to the DNAAF3 family.

Sequence caution

The sequence AAH63449.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

The sequence BAC04177.1 differs from that shown. Reason: Probable cloning artifact.

Ontologies

Keywords
   Biological processCilium biogenesis/degradation
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseCiliopathy
Disease mutation
Primary ciliary dyskinesia
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaxonemal dynein complex assembly

Inferred from mutant phenotype Ref.4. Source: UniProtKB

motile cilium assembly

Inferred from mutant phenotype Ref.4. Source: UniProtKB

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N9W5-1)

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: Q8N9W5-5)

The sequence of this isoform differs from the canonical sequence as follows:
     77-95: FFVLENNLEAVARHMLIFS → VSWDEDESPDSRVLEGGRD
     96-541: Missing.
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Isoform 3 (identifier: Q8N9W5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MLPLLDSSKRAGTLGSGCGVPRVHSAALSREEGASRDIWRIKVWARVM
     29-29: S → RDATVDALPTTMVPQPAVILPG
     350-350: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q8N9W5-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MLPLLDSSKRAGTLGSGCGVPRVHSAALSREEGASRDIWRIKVWARVM

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 541541Dynein assembly factor 3, axonemal
PRO_0000297580

Natural variations

Alternative sequence11M → MLPLLDSSKRAGTLGSGCGV PRVHSAALSREEGASRDIWR IKVWARVM in isoform 3 and isoform 4.
VSP_042976
Alternative sequence291S → RDATVDALPTTMVPQPAVIL PG in isoform 3.
VSP_039966
Alternative sequence77 – 9519FFVLE…MLIFS → VSWDEDESPDSRVLEGGRD in isoform 2.
VSP_039967
Alternative sequence96 – 541446Missing in isoform 2.
VSP_039968
Alternative sequence3501Missing in isoform 3.
VSP_039969
Natural variant611L → P in CILD2. Ref.4
VAR_067300
Natural variant2781A → T. Ref.4
VAR_067301
Natural variant2921E → G.
Corresponds to variant rs2365725 [ dbSNP | Ensembl ].
VAR_055306
Natural variant3311G → W.
Corresponds to variant rs7508641 [ dbSNP | Ensembl ].
VAR_055307
Natural variant3651D → N. Ref.1 Ref.3
Corresponds to variant rs890872 [ dbSNP | Ensembl ].
VAR_055308

Sequences

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

Last modified May 5, 2009. Version 3.
Checksum: 0F0461F0F97D6F07

FASTA54159,411
        10         20         30         40         50         60 
MTTPAGSGSG FGSVSWWGLS PALDLQAESP PVDPDSQADT VHSNPELDVL LLGSVDGRHL 

        70         80         90        100        110        120 
LRTLSRAKFW PRRRFNFFVL ENNLEAVARH MLIFSLALEE PEKMGLQERS ETFLEVWGNA 

       130        140        150        160        170        180 
LLRPPVAAFV RAQADLLAHL VPEPDRLEEQ LPWLSLRALK FRERDALEAV FRFWAGGEKG 

       190        200        210        220        230        240 
PQAFPMSRLW DSRLRHYLGS RYDARRGVSD WDLRMKLHDR GAQVIHPQEF RRWRDTGVAF 

       250        260        270        280        290        300 
ELRDSSAYHV PNRTLASGRL LSYRGERVAA RGYWGDIATG PFVAFGIEAD DESLLRTSNG 

       310        320        330        340        350        360 
QPVKTAGEIT QHNVTELLRD VAAWGRARAT GGDLEEQQHA EGSPEPGTPA APTPESFTVH 

       370        380        390        400        410        420 
FLPLDSAQTL HHKSCYNGRF QLLYVACGMV HLLIPELGAC VAPGGNLIVE LARYLVDVRQ 

       430        440        450        460        470        480 
EQLQGFNTRV RELAQAAGFA PQTGARPSET FARFCKSQES ALGNTVPAVE PGTPPLDILA 

       490        500        510        520        530        540 
QPLEASNPAL EGLTQPLQGG TPHCEPCQLP SESPGSLSEV LAQPQGALAP PNCESDSKTG 


V 

« Hide

Isoform 2 [UniParc].

Checksum: 0F7AA25AC080E9F5
Show »

FASTA9510,389
Isoform 3 [UniParc].

Checksum: 4B2C6BF46712069C
Show »

FASTA60866,570
Isoform 4 [UniParc].

Checksum: AE94AB27E08B6C75
Show »

FASTA58864,484

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 1 AND 3), VARIANT ASN-365.
Tissue: Testis.
[2]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(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] (ISOFORMS 1 AND 2), VARIANT ASN-365.
Tissue: Brain and Pancreas.
[4]"Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia."
Mitchison H.M., Schmidts M., Loges N.T., Freshour J., Dritsoula A., Hirst R.A., O'Callaghan C., Blau H., Al Dabbagh M., Olbrich H., Beales P.L., Yagi T., Mussaffi H., Chung E.M., Omran H., Mitchell D.R.
Nat. Genet. 44:381-389(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CILD2 PRO-61, VARIANT THR-278, FUNCTION.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK093458 mRNA. Translation: BAC04172.1.
AK093473 mRNA. Translation: BAC04177.1. Sequence problems.
AK097388 mRNA. Translation: BAC05029.1.
AC010327 Genomic DNA. No translation available.
BC016843 mRNA. Translation: AAH16843.1.
BC063449 mRNA. Translation: AAH63449.1. Sequence problems.
RefSeqNP_001243643.1. NM_001256714.1.
NP_001243644.1. NM_001256715.1.
NP_001243645.1. NM_001256716.1.
NP_849159.2. NM_178837.4.
UniGeneHs.351582.

3D structure databases

ProteinModelPortalQ8N9W5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid131582. 1 interaction.
STRING9606.ENSP00000375600.

PTM databases

PhosphoSiteQ8N9W5.

Polymorphism databases

DMDM229462985.

Proteomic databases

PaxDbQ8N9W5.
PRIDEQ8N9W5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000391720; ENSP00000375600; ENSG00000167646. [Q8N9W5-6]
ENST00000524407; ENSP00000432046; ENSG00000167646. [Q8N9W5-1]
ENST00000527223; ENSP00000436975; ENSG00000167646. [Q8N9W5-3]
ENST00000528412; ENSP00000433826; ENSG00000167646. [Q8N9W5-5]
ENST00000534214; ENSP00000433247; ENSG00000167646. [Q8N9W5-5]
GeneID352909.
KEGGhsa:352909.
UCSCuc002qjh.2. human. [Q8N9W5-1]
uc002qjj.2. human. [Q8N9W5-6]
uc002qjl.2. human. [Q8N9W5-3]

Organism-specific databases

CTD352909.
GeneCardsGC19M055671.
HGNCHGNC:30492. DNAAF3.
HPAHPA042118.
MIM606763. phenotype.
614566. gene.
neXtProtNX_Q8N9W5.
Orphanet244. Primary ciliary dyskinesia.
PharmGKBPA147358371.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG85125.
HOGENOMHOG000060295.
HOVERGENHBG107764.
OMALAFEMRE.
OrthoDBEOG76QFH6.
PhylomeDBQ8N9W5.

Gene expression databases

ArrayExpressQ8N9W5.
BgeeQ8N9W5.
CleanExHS_C19orf51.
GenevestigatorQ8N9W5.

Family and domain databases

InterProIPR028235. DNAAF3_C.
IPR027974. DUF4470.
[Graphical view]
PfamPF14737. DUF4470. 1 hit.
PF14740. DUF4471. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi352909.
NextBio99561.
PROQ8N9W5.
SOURCESearch...

Entry information

Entry nameDAAF3_HUMAN
AccessionPrimary (citable) accession number: Q8N9W5
Secondary accession number(s): A8MUY0 expand/collapse secondary AC list , E9PAX5, Q6P4F6, Q8N9W0, Q96AR2
Entry history
Integrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: May 5, 2009
Last modified: April 16, 2014
This is version 82 of the entry and version 3 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

Uncharacterized protein families (UPF)

List of uncharacterized protein family (UPF) entries

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 19

Human chromosome 19: entries, gene names and cross-references to MIM