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Protein

Protein kintoun

Gene

DNAAF2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.

GO - Biological processi

  • activation of mitophagy in response to mitochondrial depolarization Source: ParkinsonsUK-UCL
  • axonemal dynein complex assembly Source: UniProtKB
  • bacterial-type flagellum-dependent cell motility Source: UniProtKB
  • cilium-dependent cell motility Source: UniProtKB
  • positive regulation of defense response to virus by host Source: ParkinsonsUK-UCL
  • response to retinoic acid Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Protein kintoun
Alternative name(s):
Dynein assembly factor 2, axonemal
Gene namesi
Name:DNAAF2
Synonyms:C14orf104, KTU
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:20188. DNAAF2.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
Complete GO annotation...

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, Primary ciliary dyskinesia

Organism-specific databases

MIMi612518. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA134910310.

Polymorphism and mutation databases

BioMutaiDNAAF2.
DMDMi224471834.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 837837Protein kintounPRO_0000089911Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei461 – 4611Phosphoserine1 Publication
Modified residuei467 – 4671Phosphoserine1 Publication
Modified residuei640 – 6401Phosphoserine1 Publication
Modified residuei641 – 6411Phosphoserine1 Publication
Modified residuei773 – 7731Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9NVR5.
PaxDbiQ9NVR5.
PRIDEiQ9NVR5.

PTM databases

PhosphoSiteiQ9NVR5.

Expressioni

Gene expression databases

BgeeiQ9NVR5.
CleanExiHS_C14orf104.
GenevisibleiQ9NVR5. HS.

Organism-specific databases

HPAiHPA002894.
HPA004113.

Interactioni

Subunit structurei

Interacts with DNAI2 and HSPA1A (By similarity). Interacts with DYX1C1.By similarity1 Publication

Protein-protein interaction databases

BioGridi120471. 65 interactions.
DIPiDIP-59041N.
IntActiQ9NVR5. 2 interactions.
STRINGi9606.ENSP00000298292.

Structurei

3D structure databases

ProteinModelPortaliQ9NVR5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PIH1 family. Kintoun subfamily.Curated

Phylogenomic databases

eggNOGiNOG40282.
GeneTreeiENSGT00510000048466.
HOGENOMiHOG000094570.
HOVERGENiHBG108080.
InParanoidiQ9NVR5.
OMAiCLDSRKP.
OrthoDBiEOG7CRTP9.
PhylomeDBiQ9NVR5.
TreeFamiTF336215.

Family and domain databases

InterProiIPR012981. PIH1.
[Graphical view]
PANTHERiPTHR22997. PTHR22997. 1 hit.
PfamiPF08190. PIH1. 1 hit.
[Graphical view]

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 BAA91684.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence CAD66572.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti403 – 4031C → G in AAH13322 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti62 – 621E → D.
Corresponds to variant rs2985684 [ dbSNP | Ensembl ].
VAR_057788
Natural varianti768 – 7681D → G.
Corresponds to variant rs9989177 [ dbSNP | Ensembl ].
VAR_024309

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei622 – 66948Missing in isoform 2. 2 PublicationsVSP_008390Add
BLAST

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]
uc001wwt.4. human. [Q9NVR5-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120471. 65 interactions.
DIPiDIP-59041N.
IntActiQ9NVR5. 2 interactions.
STRINGi9606.ENSP00000298292.

PTM databases

PhosphoSiteiQ9NVR5.

Polymorphism and mutation databases

BioMutaiDNAAF2.
DMDMi224471834.

Proteomic databases

MaxQBiQ9NVR5.
PaxDbiQ9NVR5.
PRIDEiQ9NVR5.

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]
uc001wwt.4. human. [Q9NVR5-2]

Organism-specific databases

CTDi55172.
GeneCardsiGC14M050092.
GeneReviewsiDNAAF2.
H-InvDBHIX0011631.
HGNCiHGNC:20188. DNAAF2.
HPAiHPA002894.
HPA004113.
MIMi612517. gene.
612518. phenotype.
neXtProtiNX_Q9NVR5.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA134910310.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG40282.
GeneTreeiENSGT00510000048466.
HOGENOMiHOG000094570.
HOVERGENiHBG108080.
InParanoidiQ9NVR5.
OMAiCLDSRKP.
OrthoDBiEOG7CRTP9.
PhylomeDBiQ9NVR5.
TreeFamiTF336215.

Miscellaneous databases

GeneWikiiC14orf104.
GenomeRNAii55172.
NextBioi58957.
PROiQ9NVR5.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NVR5.
CleanExiHS_C14orf104.
GenevisibleiQ9NVR5. HS.

Family and domain databases

InterProiIPR012981. PIH1.
[Graphical view]
PANTHERiPTHR22997. PTHR22997. 1 hit.
PfamiPF08190. PIH1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN CILD10, SUBCELLULAR LOCATION.
  2. "Full-length cDNA libraries and normalization."
    Li W.B., Gruber C., Jessee J., Polayes D.
    Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-424, NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 396-837 (ISOFORM 2).
    Tissue: Neuroblastoma.
  3. "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] OF 379-837 (ISOFORM 1).
  4. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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] OF 386-837 (ISOFORM 2).
    Tissue: Bone marrow and Colon.
  6. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-461 AND SER-467, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  9. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-640; SER-641 AND SER-773, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. Cited for: INTERACTION WITH DYX1C1.
  11. "Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia."
    Raidt J., Wallmeier J., Hjeij R., Onnebrink J.G., Pennekamp P., Loges N.T., Olbrich H., Haeffner K., Dougherty G.W., Omran H., Werner C.
    Eur. Respir. J. 44:1579-1588(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CILD10.

Entry informationi

Entry nameiKTU_HUMAN
AccessioniPrimary (citable) accession number: Q9NVR5
Secondary accession number(s): B9WS54
, C0JAP7, Q86TR1, Q86TY8, Q969Z5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: March 3, 2009
Last modified: June 24, 2015
This is version 106 of the entry and version 2 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 14
    Human chromosome 14: 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

External Data

Dasty 3

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 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.