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Protein

Protein kintoun

Gene

DNAAF2

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

Functioni

Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment.UniRule annotation

GO - Biological processi

  • axonemal dynein complex assembly Source: UniProtKB
  • cilium-dependent cell motility Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
Protein kintounUniRule annotation
Alternative name(s):
Dynein assembly factor 2, axonemalUniRule annotation
Gene namesi
Name:DNAAF2UniRule annotation
Synonyms:C14orf104, KTUUniRule annotation
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000165506.14
HGNCiHGNC:20188 DNAAF2
MIMi612517 gene
neXtProtiNX_Q9NVR5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 10 (CILD10)2 Publications
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:612518

Keywords - Diseasei

Ciliopathy, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi55172
GeneReviewsiDNAAF2
MalaCardsiDNAAF2
MIMi612518 phenotype
OpenTargetsiENSG00000165506
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA134910310

Polymorphism and mutation databases

BioMutaiDNAAF2
DMDMi224471834

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000899111 – 837Protein kintounAdd BLAST837

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei461PhosphoserineCombined sources1
Modified residuei467PhosphoserineCombined sources1
Modified residuei640PhosphoserineCombined sources1
Modified residuei641PhosphoserineCombined sources1
Modified residuei773PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NVR5
MaxQBiQ9NVR5
PaxDbiQ9NVR5
PeptideAtlasiQ9NVR5
PRIDEiQ9NVR5
ProteomicsDBi82849
82850 [Q9NVR5-2]

PTM databases

iPTMnetiQ9NVR5
PhosphoSitePlusiQ9NVR5

Expressioni

Gene expression databases

BgeeiENSG00000165506 Expressed in 214 organ(s), highest expression level in bronchial epithelial cell
CleanExiHS_C14orf104
GenevisibleiQ9NVR5 HS

Organism-specific databases

HPAiHPA002894
HPA004113

Interactioni

Subunit structurei

Interacts with CFAP300 (PubMed:29727693). Interacts with DNAAF4 (PubMed:23872636). Interacts with PIH1D3 (PubMed:28041644). Interacts with DNAI2 and HSPA1A (By similarity).UniRule annotation3 Publications

Protein-protein interaction databases

BioGridi120471, 85 interactors
DIPiDIP-59041N
IntActiQ9NVR5, 7 interactors
STRINGi9606.ENSP00000298292

Structurei

3D structure databases

ProteinModelPortaliQ9NVR5
SMRiQ9NVR5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PIH1 family. Kintoun subfamily.UniRule annotation

Phylogenomic databases

eggNOGiKOG4356 Eukaryota
ENOG410XQ8C LUCA
GeneTreeiENSGT00510000048466
HOGENOMiHOG000094570
HOVERGENiHBG108080
InParanoidiQ9NVR5
KOiK19751
OMAiTEPRCSV
OrthoDBiEOG091G0J98
PhylomeDBiQ9NVR5
TreeFamiTF336215

Family and domain databases

HAMAPiMF_03069 Kintoun, 1 hit
InterProiView protein in InterPro
IPR034727 Kintoun
IPR012981 PIH1_dom
PANTHERiPTHR22997 PTHR22997, 1 hit
PfamiView protein in Pfam
PF08190 PIH1, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9NVR5-1) [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
MAKAAASSSL EDLDLSGEEV QRLTSAFQDP EFRRMFSQYA EELTDPENRR
60 70 80 90 100
RYEAEITALE RERGVEVRFV HPEPGHVLRT SLDGARRCFV NVCSNALVGA
110 120 130 140 150
PSSRPGSGGD RGAAPGSHWS LPYSLAPGRE YAGRSSSRYM VYDVVFHPDA
160 170 180 190 200
LALARRHEGF RQMLDATALE AVEKQFGVKL DRRNAKTLKA KYKGTPEAAV
210 220 230 240 250
LRTPLPGVIP ARPDGEPKGP LPDFPYPYQY PAAPGPRAPS PPEAALQPAP
260 270 280 290 300
TEPRYSVVQR HHVDLQDYRC SRDSAPSPVP HELVITIELP LLRSAEQAAL
310 320 330 340 350
EVTRKLLCLD SRKPDYRLRL SLPYPVDDGR GKAQFNKARR QLVVTLPVVL
360 370 380 390 400
PAARREPAVA VAAAAPEESA DRSGTDGQAC ASAREGEAGP ARSRAEDGGH
410 420 430 440 450
DTCVAGAAGS GVTTLGDPEV APPPAAAGEE RVPKPGEQDL SRHAGSPPGS
460 470 480 490 500
VEEPSPGGEN SPGGGGSPCL SSRSLAWGSS AGRESARGDS SVETREESEG
510 520 530 540 550
TGGQRSACAM GGPGTKSGEP LCPPLLCNQD KETLTLLIQV PRIQPQSLQG
560 570 580 590 600
DLNPLWYKLR FSAQDLVYSF FLQFAPENKL STTEPVISIS SNNAVIELAK
610 620 630 640 650
SPESHGHWRE WYYGVNNDSL EERLFVNEEN VNEFLEEVLS SPFKQSMSLT
660 670 680 690 700
PPLIEVLQVT DNKIQINAKL QECSNSDQLQ GKEERVNEES HLTEKEYIEH
710 720 730 740 750
CNTPTTDSDS SIAVKALQID SFGLVTCFQQ ESLDVSQMIL GKSQQPESKM
760 770 780 790 800
QSEFIKEKSA TCSNEEKDNL NESVITEEKE TDGDHLSSLL NKTTVHNIPG
810 820 830
FDSIKETNMQ DGSVQVIKDH VTNCAFSFQN SLLYDLD
Length:837
Mass (Da):91,114
Last modified:March 3, 2009 - v2
Checksum:i55C2F2F709F55FFC
GO
Isoform 2 (identifier: Q9NVR5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     622-669: Missing.

Note: May be due to exon skipping.
Show »
Length:789
Mass (Da):85,600
Checksum:i99E7AA353B4CD616
GO

Sequence cautioni

The sequence BAA91684 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAD66572 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti403C → G in AAH13322 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05778862E → D. Corresponds to variant dbSNP:rs2985684EnsemblClinVar.1
Natural variantiVAR_024309768D → G. Corresponds to variant dbSNP:rs9989177EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_008390622 – 669Missing in isoform 2. 2 PublicationsAdd BLAST48

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
FJ158843 mRNA Translation: ACN30493.1
BX248264 mRNA Translation: CAD62592.1
BX248765 mRNA Translation: CAD66572.1 Different initiation.
AK001425 mRNA Translation: BAA91684.1 Different initiation.
AL139099 Genomic DNA No translation available.
BC013322 mRNA Translation: AAH13322.2
BC011400 mRNA Translation: AAH11400.2
CCDSiCCDS45100.1 [Q9NVR5-2]
CCDS9691.2 [Q9NVR5-1]
RefSeqiNP_001077377.1, NM_001083908.1 [Q9NVR5-2]
NP_060609.2, NM_018139.2 [Q9NVR5-1]
UniGeneiHs.231761

Genome annotation databases

EnsembliENST00000298292; ENSP00000298292; ENSG00000165506 [Q9NVR5-1]
ENST00000406043; ENSP00000384862; ENSG00000165506 [Q9NVR5-2]
GeneIDi55172
KEGGihsa:55172
UCSCiuc001wws.4 human [Q9NVR5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
FJ158843 mRNA Translation: ACN30493.1
BX248264 mRNA Translation: CAD62592.1
BX248765 mRNA Translation: CAD66572.1 Different initiation.
AK001425 mRNA Translation: BAA91684.1 Different initiation.
AL139099 Genomic DNA No translation available.
BC013322 mRNA Translation: AAH13322.2
BC011400 mRNA Translation: AAH11400.2
CCDSiCCDS45100.1 [Q9NVR5-2]
CCDS9691.2 [Q9NVR5-1]
RefSeqiNP_001077377.1, NM_001083908.1 [Q9NVR5-2]
NP_060609.2, NM_018139.2 [Q9NVR5-1]
UniGeneiHs.231761

3D structure databases

ProteinModelPortaliQ9NVR5
SMRiQ9NVR5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120471, 85 interactors
DIPiDIP-59041N
IntActiQ9NVR5, 7 interactors
STRINGi9606.ENSP00000298292

PTM databases

iPTMnetiQ9NVR5
PhosphoSitePlusiQ9NVR5

Polymorphism and mutation databases

BioMutaiDNAAF2
DMDMi224471834

Proteomic databases

EPDiQ9NVR5
MaxQBiQ9NVR5
PaxDbiQ9NVR5
PeptideAtlasiQ9NVR5
PRIDEiQ9NVR5
ProteomicsDBi82849
82850 [Q9NVR5-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000298292; ENSP00000298292; ENSG00000165506 [Q9NVR5-1]
ENST00000406043; ENSP00000384862; ENSG00000165506 [Q9NVR5-2]
GeneIDi55172
KEGGihsa:55172
UCSCiuc001wws.4 human [Q9NVR5-1]

Organism-specific databases

CTDi55172
DisGeNETi55172
EuPathDBiHostDB:ENSG00000165506.14
GeneCardsiDNAAF2
GeneReviewsiDNAAF2
H-InvDBiHIX0011631
HGNCiHGNC:20188 DNAAF2
HPAiHPA002894
HPA004113
MalaCardsiDNAAF2
MIMi612517 gene
612518 phenotype
neXtProtiNX_Q9NVR5
OpenTargetsiENSG00000165506
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA134910310
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4356 Eukaryota
ENOG410XQ8C LUCA
GeneTreeiENSGT00510000048466
HOGENOMiHOG000094570
HOVERGENiHBG108080
InParanoidiQ9NVR5
KOiK19751
OMAiTEPRCSV
OrthoDBiEOG091G0J98
PhylomeDBiQ9NVR5
TreeFamiTF336215

Miscellaneous databases

GeneWikiiC14orf104
GenomeRNAii55172
PROiPR:Q9NVR5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165506 Expressed in 214 organ(s), highest expression level in bronchial epithelial cell
CleanExiHS_C14orf104
GenevisibleiQ9NVR5 HS

Family and domain databases

HAMAPiMF_03069 Kintoun, 1 hit
InterProiView protein in InterPro
IPR034727 Kintoun
IPR012981 PIH1_dom
PANTHERiPTHR22997 PTHR22997, 1 hit
PfamiView protein in Pfam
PF08190 PIH1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiKTU_HUMAN
AccessioniPrimary (citable) accession number: Q9NVR5
Secondary accession number(s): B9WS54
, C0JAP7, Q86TR1, Q86TY8, Q969Z5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: March 3, 2009
Last modified: November 7, 2018
This is version 135 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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