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Protein

Dynein assembly factor 3, axonemal

Gene

DNAAF3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

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

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000167646-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:30492. DNAAF3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 2 (CILD2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:606763
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06730061L → P in CILD2. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi352909.
MalaCardsiDNAAF3.
MIMi606763. phenotype.
OpenTargetsiENSG00000167646.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA147358371.

Polymorphism and mutation databases

BioMutaiDNAAF3.
DMDMi229462985.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002975801 – 541Dynein assembly factor 3, axonemalAdd BLAST541

Proteomic databases

PaxDbiQ8N9W5.
PeptideAtlasiQ8N9W5.
PRIDEiQ8N9W5.

PTM databases

iPTMnetiQ8N9W5.
PhosphoSitePlusiQ8N9W5.

Expressioni

Gene expression databases

BgeeiENSG00000167646.
CleanExiHS_C19orf51.
ExpressionAtlasiQ8N9W5. baseline and differential.
GenevisibleiQ8N9W5. HS.

Organism-specific databases

HPAiHPA042118.
HPA056220.

Interactioni

Protein-protein interaction databases

BioGridi131582. 2 interactors.
IntActiQ8N9W5. 1 interactor.
STRINGi9606.ENSP00000375599.

Structurei

3D structure databases

ProteinModelPortaliQ8N9W5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the DNAAF3 family.Curated

Phylogenomic databases

eggNOGiENOG410IENI. Eukaryota.
ENOG410XP2W. LUCA.
GeneTreeiENSGT00390000002069.
HOGENOMiHOG000060295.
HOVERGENiHBG107764.
InParanoidiQ8N9W5.
KOiK19752.
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. AlignAdd to basket

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 differs from that shown. Probable cloning artifact.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06730061L → P in CILD2. 1 Publication1
Natural variantiVAR_067301278A → T.1 Publication1
Natural variantiVAR_055306292E → G.Corresponds to variant rs2365725dbSNPEnsembl.1
Natural variantiVAR_055307331G → W.Corresponds to variant rs7508641dbSNPEnsembl.1
Natural variantiVAR_055308365D → N.2 PublicationsCorresponds to variant rs890872dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0557421 – 76MTTPA…RRRFN → MKMRAQIPESLREEGIEILK PQ in isoform 5. 1 PublicationAdd BLAST76
Alternative sequenceiVSP_0429761M → MLPLLDSSKRAGTLGSGCGV PRVHSAALSREEGASRDIWR IKVWARVM in isoform 3 and isoform 4. 1 Publication1
Alternative sequenceiVSP_03996629S → RDATVDALPTTMVPQPAVIL PG in isoform 3. 1 Publication1
Alternative sequenceiVSP_03996777 – 95FFVLE…MLIFS → VSWDEDESPDSRVLEGGRD in isoform 2. CuratedAdd BLAST19
Alternative sequenceiVSP_03996896 – 541Missing in isoform 2. CuratedAdd BLAST446
Alternative sequenceiVSP_039969350Missing in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

EnsembliENST00000528412; ENSP00000433826; ENSG00000167646. [Q8N9W5-5]
ENST00000534214; ENSP00000433247; ENSG00000167646. [Q8N9W5-5]
GeneIDi352909.
KEGGihsa:352909.
UCSCiuc002qji.3. human. [Q8N9W5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ8N9W5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131582. 2 interactors.
IntActiQ8N9W5. 1 interactor.
STRINGi9606.ENSP00000375599.

PTM databases

iPTMnetiQ8N9W5.
PhosphoSitePlusiQ8N9W5.

Polymorphism and mutation databases

BioMutaiDNAAF3.
DMDMi229462985.

Proteomic databases

PaxDbiQ8N9W5.
PeptideAtlasiQ8N9W5.
PRIDEiQ8N9W5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000528412; ENSP00000433826; ENSG00000167646. [Q8N9W5-5]
ENST00000534214; ENSP00000433247; ENSG00000167646. [Q8N9W5-5]
GeneIDi352909.
KEGGihsa:352909.
UCSCiuc002qji.3. human. [Q8N9W5-1]

Organism-specific databases

CTDi352909.
DisGeNETi352909.
GeneCardsiDNAAF3.
GeneReviewsiDNAAF3.
HGNCiHGNC:30492. DNAAF3.
HPAiHPA042118.
HPA056220.
MalaCardsiDNAAF3.
MIMi606763. phenotype.
614566. gene.
neXtProtiNX_Q8N9W5.
OpenTargetsiENSG00000167646.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA147358371.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IENI. Eukaryota.
ENOG410XP2W. LUCA.
GeneTreeiENSGT00390000002069.
HOGENOMiHOG000060295.
HOVERGENiHBG107764.
InParanoidiQ8N9W5.
KOiK19752.
PhylomeDBiQ8N9W5.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000167646-MONOMER.

Miscellaneous databases

GenomeRNAii352909.
PROiQ8N9W5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167646.
CleanExiHS_C19orf51.
ExpressionAtlasiQ8N9W5. baseline and differential.
GenevisibleiQ8N9W5. HS.

Family and domain databases

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

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: November 30, 2016
This is version 106 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.