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Q8N9W5

- DAAF3_HUMAN

UniProt

Q8N9W5 - DAAF3_HUMAN

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Protein

Dynein assembly factor 3, axonemal

Gene

DNAAF3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia.1 Publication

GO - Biological processi

  1. axonemal dynein complex assembly Source: UniProtKB
  2. motile cilium assembly Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein assembly factor 3, axonemal
Gene namesi
Name:DNAAF3
Synonyms:C19orf51
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:30492. DNAAF3.

Subcellular locationi

Cytoplasm By similarity

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti61 – 611L → P in CILD2. 1 Publication
VAR_067300

Keywords - Diseasei

Ciliopathy, Disease mutation, Primary ciliary dyskinesia

Organism-specific databases

MIMi606763. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA147358371.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 541541Dynein assembly factor 3, axonemalPRO_0000297580Add
BLAST

Proteomic databases

PaxDbiQ8N9W5.
PRIDEiQ8N9W5.

PTM databases

PhosphoSiteiQ8N9W5.

Expressioni

Gene expression databases

BgeeiQ8N9W5.
CleanExiHS_C19orf51.
ExpressionAtlasiQ8N9W5. baseline and differential.
GenevestigatoriQ8N9W5.

Organism-specific databases

HPAiHPA042118.

Interactioni

Protein-protein interaction databases

BioGridi131582. 2 interactions.
STRINGi9606.ENSP00000375600.

Structurei

3D structure databases

ProteinModelPortaliQ8N9W5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the DNAAF3 family.Curated

Phylogenomic databases

eggNOGiNOG85125.
GeneTreeiENSGT00390000002069.
HOGENOMiHOG000060295.
HOVERGENiHBG107764.
InParanoidiQ8N9W5.
OMAiALINHRT.
OrthoDBiEOG76QFH6.
PhylomeDBiQ8N9W5.

Family and domain databases

InterProiIPR028235. DNAAF3_C.
IPR027974. DUF4470.
[Graphical view]
PfamiPF14737. DUF4470. 1 hit.
PF14740. DUF4471. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8N9W5-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MTTPAGSGSG FGSVSWWGLS PALDLQAESP PVDPDSQADT VHSNPELDVL
60 70 80 90 100
LLGSVDGRHL LRTLSRAKFW PRRRFNFFVL ENNLEAVARH MLIFSLALEE
110 120 130 140 150
PEKMGLQERS ETFLEVWGNA LLRPPVAAFV RAQADLLAHL VPEPDRLEEQ
160 170 180 190 200
LPWLSLRALK FRERDALEAV FRFWAGGEKG PQAFPMSRLW DSRLRHYLGS
210 220 230 240 250
RYDARRGVSD WDLRMKLHDR GAQVIHPQEF RRWRDTGVAF ELRDSSAYHV
260 270 280 290 300
PNRTLASGRL LSYRGERVAA RGYWGDIATG PFVAFGIEAD DESLLRTSNG
310 320 330 340 350
QPVKTAGEIT QHNVTELLRD VAAWGRARAT GGDLEEQQHA EGSPEPGTPA
360 370 380 390 400
APTPESFTVH FLPLDSAQTL HHKSCYNGRF QLLYVACGMV HLLIPELGAC
410 420 430 440 450
VAPGGNLIVE LARYLVDVRQ EQLQGFNTRV RELAQAAGFA PQTGARPSET
460 470 480 490 500
FARFCKSQES ALGNTVPAVE PGTPPLDILA QPLEASNPAL EGLTQPLQGG
510 520 530 540
TPHCEPCQLP SESPGSLSEV LAQPQGALAP PNCESDSKTG V
Length:541
Mass (Da):59,411
Last modified:May 5, 2009 - v3
Checksum:i0F0461F0F97D6F07
GO
Isoform 2 (identifier: Q8N9W5-5) [UniParc]FASTAAdd to Basket

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.

Show »
Length:95
Mass (Da):10,389
Checksum:i0F7AA25AC080E9F5
GO
Isoform 3 (identifier: Q8N9W5-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:608
Mass (Da):66,570
Checksum:i4B2C6BF46712069C
GO
Isoform 4 (identifier: Q8N9W5-6) [UniParc]FASTAAdd to Basket

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

Show »
Length:588
Mass (Da):64,484
Checksum:iAE94AB27E08B6C75
GO
Isoform 5 (identifier: Q8N9W5-7) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-76: MTTPAGSGSG...AKFWPRRRFN → MKMRAQIPESLREEGIEILKPQ

Show »
Length:487
Mass (Da):53,749
Checksum:i7D4D4287AF0DA108
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti61 – 611L → P in CILD2. 1 Publication
VAR_067300
Natural varianti278 – 2781A → T.1 Publication
VAR_067301
Natural varianti292 – 2921E → G.
Corresponds to variant rs2365725 [ dbSNP | Ensembl ].
VAR_055306
Natural varianti331 – 3311G → W.
Corresponds to variant rs7508641 [ dbSNP | Ensembl ].
VAR_055307
Natural varianti365 – 3651D → N.2 Publications
Corresponds to variant rs890872 [ dbSNP | Ensembl ].
VAR_055308

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7676MTTPA…RRRFN → MKMRAQIPESLREEGIEILK PQ in isoform 5. 1 PublicationVSP_055742Add
BLAST
Alternative sequencei1 – 11M → MLPLLDSSKRAGTLGSGCGV PRVHSAALSREEGASRDIWR IKVWARVM in isoform 3 and isoform 4. 1 PublicationVSP_042976
Alternative sequencei29 – 291S → RDATVDALPTTMVPQPAVIL PG in isoform 3. 1 PublicationVSP_039966
Alternative sequencei77 – 9519FFVLE…MLIFS → VSWDEDESPDSRVLEGGRD in isoform 2. CuratedVSP_039967Add
BLAST
Alternative sequencei96 – 541446Missing in isoform 2. CuratedVSP_039968Add
BLAST
Alternative sequencei350 – 3501Missing in isoform 3. 1 PublicationVSP_039969

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS12918.2. [Q8N9W5-6]
CCDS58679.1. [Q8N9W5-7]
CCDS58680.1. [Q8N9W5-3]
CCDS59422.1. [Q8N9W5-1]
RefSeqiNP_001243643.1. NM_001256714.1.
NP_001243644.1. NM_001256715.1.
NP_001243645.1. NM_001256716.1.
NP_849159.2. NM_178837.4.
UniGeneiHs.351582.

Genome annotation databases

EnsembliENST00000455045; ENSP00000394343; ENSG00000167646.
ENST00000524407; ENSP00000432046; ENSG00000167646.
ENST00000527223; ENSP00000436975; ENSG00000167646.
ENST00000528412; ENSP00000433826; ENSG00000167646. [Q8N9W5-5]
ENST00000534214; ENSP00000433247; ENSG00000167646. [Q8N9W5-5]
GeneIDi352909.
KEGGihsa:352909.
UCSCiuc002qjh.2. human. [Q8N9W5-1]
uc002qjj.2. human. [Q8N9W5-6]
uc002qjl.2. human. [Q8N9W5-3]

Polymorphism databases

DMDMi229462985.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS12918.2. [Q8N9W5-6 ]
CCDS58679.1. [Q8N9W5-7 ]
CCDS58680.1. [Q8N9W5-3 ]
CCDS59422.1. [Q8N9W5-1 ]
RefSeqi NP_001243643.1. NM_001256714.1.
NP_001243644.1. NM_001256715.1.
NP_001243645.1. NM_001256716.1.
NP_849159.2. NM_178837.4.
UniGenei Hs.351582.

3D structure databases

ProteinModelPortali Q8N9W5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 131582. 2 interactions.
STRINGi 9606.ENSP00000375600.

PTM databases

PhosphoSitei Q8N9W5.

Polymorphism databases

DMDMi 229462985.

Proteomic databases

PaxDbi Q8N9W5.
PRIDEi Q8N9W5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000455045 ; ENSP00000394343 ; ENSG00000167646 .
ENST00000524407 ; ENSP00000432046 ; ENSG00000167646 .
ENST00000527223 ; ENSP00000436975 ; ENSG00000167646 .
ENST00000528412 ; ENSP00000433826 ; ENSG00000167646 . [Q8N9W5-5 ]
ENST00000534214 ; ENSP00000433247 ; ENSG00000167646 . [Q8N9W5-5 ]
GeneIDi 352909.
KEGGi hsa:352909.
UCSCi uc002qjh.2. human. [Q8N9W5-1 ]
uc002qjj.2. human. [Q8N9W5-6 ]
uc002qjl.2. human. [Q8N9W5-3 ]

Organism-specific databases

CTDi 352909.
GeneCardsi GC19M055671.
GeneReviewsi DNAAF3.
HGNCi HGNC:30492. DNAAF3.
HPAi HPA042118.
MIMi 606763. phenotype.
614566. gene.
neXtProti NX_Q8N9W5.
Orphaneti 244. Primary ciliary dyskinesia.
PharmGKBi PA147358371.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG85125.
GeneTreei ENSGT00390000002069.
HOGENOMi HOG000060295.
HOVERGENi HBG107764.
InParanoidi Q8N9W5.
OMAi ALINHRT.
OrthoDBi EOG76QFH6.
PhylomeDBi Q8N9W5.

Miscellaneous databases

GenomeRNAii 352909.
NextBioi 35497341.
PROi Q8N9W5.
SOURCEi Search...

Gene expression databases

Bgeei Q8N9W5.
CleanExi HS_C19orf51.
ExpressionAtlasi Q8N9W5. baseline and differential.
Genevestigatori Q8N9W5.

Family and domain databases

InterProi IPR028235. DNAAF3_C.
IPR027974. DUF4470.
[Graphical view ]
Pfami PF14737. DUF4470. 1 hit.
PF14740. DUF4471. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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 5), VARIANT ASN-365.
    Tissue: Brain and Pancreas.
  4. Cited for: VARIANT CILD2 PRO-61, VARIANT THR-278, FUNCTION.

Entry informationi

Entry nameiDAAF3_HUMAN
AccessioniPrimary (citable) accession number: Q8N9W5
Secondary accession number(s): A8MUY0
, E3W9A1, E9PAX5, Q6P4F6, Q8N9W0, Q96AR2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: May 5, 2009
Last modified: October 29, 2014
This is version 87 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
  6. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

External Data

Dasty 3