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Q9NVR5 (KTU_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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:
Protein kintoun
Alternative name(s):
Dynein assembly factor 2, axonemal
Gene names
Name:DNAAF2
Synonyms:C14orf104, KTU
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length837 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Interacts with DNAI2 and HSPA1A By similarity. Interacts with DYX1C1. Ref.10

Subcellular location

Cytoplasm. Note: Localizes in the apical cytoplasm around the gamma-tubulin-positive pericentriolar region, not in the cilia. Ref.1

Involvement in disease

Ciliary dyskinesia, primary, 10 (CILD10) [MIM:612518]: 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.1

Sequence similarities

Belongs to the PIH1 family. Kintoun subfamily.

Sequence caution

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

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NVR5-1)

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: Q9NVR5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     622-669: Missing.
Note: May be due to exon skipping.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 837837Protein kintoun
PRO_0000089911

Amino acid modifications

Modified residue4611Phosphoserine Ref.7
Modified residue4671Phosphoserine Ref.7
Modified residue6401Phosphoserine Ref.9
Modified residue6411Phosphoserine Ref.9
Modified residue7731Phosphoserine Ref.9

Natural variations

Alternative sequence622 – 66948Missing in isoform 2.
VSP_008390
Natural variant621E → D.
Corresponds to variant rs2985684 [ dbSNP | Ensembl ].
VAR_057788
Natural variant7681D → G.
Corresponds to variant rs9989177 [ dbSNP | Ensembl ].
VAR_024309

Experimental info

Sequence conflict4031C → G in AAH13322. Ref.5

Sequences

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

Last modified March 3, 2009. Version 2.
Checksum: 55C2F2F709F55FFC

FASTA83791,114
        10         20         30         40         50         60 
MAKAAASSSL EDLDLSGEEV QRLTSAFQDP EFRRMFSQYA EELTDPENRR RYEAEITALE 

        70         80         90        100        110        120 
RERGVEVRFV HPEPGHVLRT SLDGARRCFV NVCSNALVGA PSSRPGSGGD RGAAPGSHWS 

       130        140        150        160        170        180 
LPYSLAPGRE YAGRSSSRYM VYDVVFHPDA LALARRHEGF RQMLDATALE AVEKQFGVKL 

       190        200        210        220        230        240 
DRRNAKTLKA KYKGTPEAAV LRTPLPGVIP ARPDGEPKGP LPDFPYPYQY PAAPGPRAPS 

       250        260        270        280        290        300 
PPEAALQPAP TEPRYSVVQR HHVDLQDYRC SRDSAPSPVP HELVITIELP LLRSAEQAAL 

       310        320        330        340        350        360 
EVTRKLLCLD SRKPDYRLRL SLPYPVDDGR GKAQFNKARR QLVVTLPVVL PAARREPAVA 

       370        380        390        400        410        420 
VAAAAPEESA DRSGTDGQAC ASAREGEAGP ARSRAEDGGH DTCVAGAAGS GVTTLGDPEV 

       430        440        450        460        470        480 
APPPAAAGEE RVPKPGEQDL SRHAGSPPGS VEEPSPGGEN SPGGGGSPCL SSRSLAWGSS 

       490        500        510        520        530        540 
AGRESARGDS SVETREESEG TGGQRSACAM GGPGTKSGEP LCPPLLCNQD KETLTLLIQV 

       550        560        570        580        590        600 
PRIQPQSLQG DLNPLWYKLR FSAQDLVYSF FLQFAPENKL STTEPVISIS SNNAVIELAK 

       610        620        630        640        650        660 
SPESHGHWRE WYYGVNNDSL EERLFVNEEN VNEFLEEVLS SPFKQSMSLT PPLIEVLQVT 

       670        680        690        700        710        720 
DNKIQINAKL QECSNSDQLQ GKEERVNEES HLTEKEYIEH CNTPTTDSDS SIAVKALQID 

       730        740        750        760        770        780 
SFGLVTCFQQ ESLDVSQMIL GKSQQPESKM QSEFIKEKSA TCSNEEKDNL NESVITEEKE 

       790        800        810        820        830 
TDGDHLSSLL NKTTVHNIPG FDSIKETNMQ DGSVQVIKDH VTNCAFSFQN SLLYDLD 

« Hide

Isoform 2 [UniParc].

Checksum: 99E7AA353B4CD616
Show »

FASTA78985,600

References

« Hide 'large scale' references
[1]"Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins."
Omran H., Kobayashi D., Olbrich H., Tsukahara T., Loges N.T., Hagiwara H., Zhang Q., Leblond G., O'Toole E., Hara C., Mizuno H., Kawano H., Fliegauf M., Yagi T., Koshida S., Miyawaki A., Zentgraf H., Seithe H. expand/collapse author list , Reinhardt R., Watanabe Y., Kamiya R., Mitchell D.R., Takeda H.
Nature 456:611-616(2008) [PubMed] [Europe PMC] [Abstract]
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. 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] 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. expand/collapse author list , 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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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]"DYX1C1 is required for axonemal dynein assembly and ciliary motility."
Tarkar A., Loges N.T., Slagle C.E., Francis R., Dougherty G.W., Tamayo J.V., Shook B., Cantino M., Schwartz D., Jahnke C., Olbrich H., Werner C., Raidt J., Pennekamp P., Abouhamed M., Hjeij R., Kohler G., Griese M. expand/collapse author list , Li Y., Lemke K., Klena N., Liu X., Gabriel G., Tobita K., Jaspers M., Morgan L.C., Shapiro A.J., Letteboer S.J., Mans D.A., Carson J.L., Leigh M.W., Wolf W.E., Chen S., Lucas J.S., Onoufriadis A., Plagnol V., Schmidts M., Boldt K., Roepman R., Zariwala M.A., Lo C.W., Mitchison H.M., Knowles M.R., Burdine R.D., Loturco J.J., Omran H.
Nat. Genet. 45:995-1003(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH DYX1C1.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001077377.1. NM_001083908.1.
NP_060609.2. NM_018139.2.
UniGeneHs.231761.

3D structure databases

ProteinModelPortalQ9NVR5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120471. 3 interactions.
DIPDIP-59041N.
STRING9606.ENSP00000298292.

PTM databases

PhosphoSiteQ9NVR5.

Polymorphism databases

DMDM224471834.

Proteomic databases

PaxDbQ9NVR5.
PRIDEQ9NVR5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000298292; ENSP00000298292; ENSG00000165506. [Q9NVR5-1]
ENST00000406043; ENSP00000384862; ENSG00000165506. [Q9NVR5-2]
GeneID55172.
KEGGhsa:55172.
UCSCuc001wws.4. human. [Q9NVR5-1]
uc001wwt.4. human. [Q9NVR5-2]

Organism-specific databases

CTD55172.
GeneCardsGC14M050092.
H-InvDBHIX0011631.
HGNCHGNC:20188. DNAAF2.
HPAHPA002894.
HPA004113.
MIM612517. gene.
612518. phenotype.
neXtProtNX_Q9NVR5.
Orphanet244. Primary ciliary dyskinesia.
PharmGKBPA134910310.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG40282.
HOGENOMHOG000094570.
HOVERGENHBG108080.
InParanoidQ9NVR5.
OMACLDSRKP.
OrthoDBEOG7CRTP9.
PhylomeDBQ9NVR5.
TreeFamTF336215.

Gene expression databases

BgeeQ9NVR5.
CleanExHS_C14orf104.
GenevestigatorQ9NVR5.

Family and domain databases

InterProIPR012981. PIH.
[Graphical view]
PfamPF08190. PIH1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiC14orf104.
GenomeRNAi55172.
NextBio58957.
PROQ9NVR5.
SOURCESearch...

Entry information

Entry nameKTU_HUMAN
AccessionPrimary (citable) accession number: Q9NVR5
Secondary accession number(s): B9WS54 expand/collapse secondary AC list , C0JAP7, Q86TR1, Q86TY8, Q969Z5
Entry history
Integrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: March 3, 2009
Last modified: April 16, 2014
This is version 95 of the entry and version 2 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

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 14

Human chromosome 14: entries, gene names and cross-references to MIM