Q9NVR5 (KTU_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein kintoun

Alternative name(s):
Dynein assembly factor 2, axonemal

Gene names

Name:	DNAAF2
Synonyms:	C14orf104, KTU

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	837 AA.
Sequence status	Complete.
Protein existence	Evidence 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.
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	Defects in DNAAF2 are the cause of primary ciliary dyskinesia type 10 (CILD10) [MIM:612518]. CILD is an autosomal recessive disorder characterized by axonemal 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 situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. 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.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Ciliopathy Primary ciliary dyskinesia
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	axonemal dynein complex assembly Inferred from mutant phenotype Ref.1. Source: UniProtKB ciliary cell motility Inferred from mutant phenotype Ref.1. Source: UniProtKB flagellar cell motility Inferred from mutant phenotype Ref.1. Source: UniProtKB
Cellular component	cytoplasm Inferred from direct assay Ref.1. Source: UniProtKB
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 837	837	Protein kintoun		PRO_0000089911
Amino acid modifications
	Modified residue	641	1	Phosphoserine Ref.6
Natural variations
	Alternative sequence	622 – 669	48	Missing in isoform 2.		VSP_008390
	Natural variant	62	1	E → D. Corresponds to variant rs2985684 [ dbSNP | Ensembl ].		VAR_057788
	Natural variant	768	1	D → G. Corresponds to variant rs9989177 [ dbSNP | Ensembl ].		VAR_024309
Experimental info
	Sequence conflict	403	1	C → G in AAH13322. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 3, 2009. Version 2. Checksum: 55C2F2F709F55FFC	FASTA	837	91,114
	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
	Isoform 2 [UniParc]. Checksum: 99E7AA353B4CD616	FASTA	789	85,600
	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 ELQECSNSDQ LQGKEERVNE ESHLTEKEYI EHCNTPTTDS 670 680 690 700 710 720 DSSIAVKALQ IDSFGLVTCF QQESLDVSQM ILGKSQQPES KMQSEFIKEK SATCSNEEKD 730 740 750 760 770 780 NLNESVITEE KETDGDHLSS LLNKTTVHNI PGFDSIKETN MQDGSVQVIK DHVTNCAFSF QNSLLYDLD

References

	« Hide 'large scale' referencesShow '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. , Reinhardt R., Watanabe Y., Kamiya R., Mitchell D.R., Takeda H. Nature 456:611-616(2008) [PubMed: 19052621] [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. , 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: 14702039] [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: 12508121] [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: 15489334] [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: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-641, MASS SPECTROMETRY. Tissue: Cervix carcinoma.

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.
IPI	IPI00018698. IPI00056562.
RefSeq	NP_001077377.1. NM_001083908.1. NP_060609.2. NM_018139.2.
UniGene	Hs.231761.
3D structure databases
ProteinModelPortal	Q9NVR5.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-59041N.
STRING	Q9NVR5.
PTM databases
PhosphoSite	Q9NVR5.
Polymorphism databases
DMDM	224471834.
Proteomic databases
PRIDE	Q9NVR5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000298292; ENSP00000298292; ENSG00000165506.
GeneID	55172.
KEGG	hsa:55172.
Organism-specific databases
CTD	55172.
GeneCards	GC14M050092.
HGNC	HGNC:20188. DNAAF2.
HPA	HPA002894. HPA004113.
MIM	612517. gene. 612518. phenotype.
neXtProt	NX_Q9NVR5.
Orphanet	244. Primary ciliary dyskinesia.
PharmGKB	PA134910310.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG20602.
GeneTree	ENSGT00510000048466.
HOGENOM	HBG505571.
HOVERGEN	HBG108080.
InParanoid	Q9NVR5.
OMA	LDGTRRC.
OrthoDB	EOG4T4CV0.
PhylomeDB	Q9NVR5.
Gene expression databases
ArrayExpress	Q9NVR5.
Bgee	Q9NVR5.
CleanEx	HS_C14orf104.
Genevestigator	Q9NVR5.
GermOnline	ENSG00000165506. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
SOURCE	Search...

Entry information

Entry name

KTU_HUMAN

Accession

Primary (citable) accession number: Q9NVR5
Secondary accession number(s): B9WS54 , C0JAP7, Q86TR1, Q86TY8, Q969Z5

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2003
Last sequence update:	March 3, 2009
Last modified:	January 25, 2012
This is version 75 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.