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Q9NVR5

- KTU_HUMAN

UniProt

Q9NVR5 - KTU_HUMAN

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Protein
Protein kintoun
Gene
DNAAF2, C14orf104, KTU
Organism
Homo sapiens (Human)
Status
Reviewed - 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 - Molecular functioni

  1. protein binding Source: UniProtKB

GO - Biological processi

  1. axonemal dynein complex assembly Source: UniProtKB
  2. bacterial-type flagellum-dependent cell motility Source: UniProtKB
  3. cilium-dependent cell motility Source: UniProtKB
  4. 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: Chromosome 14

Organism-specific databases

HGNCiHGNC:20188. DNAAF2.

Subcellular locationi

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

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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.1 Publication

Keywords - Diseasei

Ciliopathy, Primary ciliary dyskinesia

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 837837Protein kintoun
PRO_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.
GenevestigatoriQ9NVR5.

Organism-specific databases

HPAiHPA002894.
HPA004113.

Interactioni

Subunit structurei

Protein-protein interaction databases

BioGridi120471. 3 interactions.
DIPiDIP-59041N.
STRINGi9606.ENSP00000298292.

Structurei

3D structure databases

ProteinModelPortaliQ9NVR5.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG40282.
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. Align

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

MAKAAASSSL EDLDLSGEEV QRLTSAFQDP EFRRMFSQYA EELTDPENRR    50
RYEAEITALE RERGVEVRFV HPEPGHVLRT SLDGARRCFV NVCSNALVGA 100
PSSRPGSGGD RGAAPGSHWS LPYSLAPGRE YAGRSSSRYM VYDVVFHPDA 150
LALARRHEGF RQMLDATALE AVEKQFGVKL DRRNAKTLKA KYKGTPEAAV 200
LRTPLPGVIP ARPDGEPKGP LPDFPYPYQY PAAPGPRAPS PPEAALQPAP 250
TEPRYSVVQR HHVDLQDYRC SRDSAPSPVP HELVITIELP LLRSAEQAAL 300
EVTRKLLCLD SRKPDYRLRL SLPYPVDDGR GKAQFNKARR QLVVTLPVVL 350
PAARREPAVA VAAAAPEESA DRSGTDGQAC ASAREGEAGP ARSRAEDGGH 400
DTCVAGAAGS GVTTLGDPEV APPPAAAGEE RVPKPGEQDL SRHAGSPPGS 450
VEEPSPGGEN SPGGGGSPCL SSRSLAWGSS AGRESARGDS SVETREESEG 500
TGGQRSACAM GGPGTKSGEP LCPPLLCNQD KETLTLLIQV PRIQPQSLQG 550
DLNPLWYKLR FSAQDLVYSF FLQFAPENKL STTEPVISIS SNNAVIELAK 600
SPESHGHWRE WYYGVNNDSL EERLFVNEEN VNEFLEEVLS SPFKQSMSLT 650
PPLIEVLQVT DNKIQINAKL QECSNSDQLQ GKEERVNEES HLTEKEYIEH 700
CNTPTTDSDS SIAVKALQID SFGLVTCFQQ ESLDVSQMIL GKSQQPESKM 750
QSEFIKEKSA TCSNEEKDNL NESVITEEKE TDGDHLSSLL NKTTVHNIPG 800
FDSIKETNMQ DGSVQVIKDH VTNCAFSFQN SLLYDLD 837
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.
The sequence CAD66572.1 differs from that shown. Reason: Erroneous initiation.

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.
VSP_008390Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti403 – 4031C → G in AAH13322. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]

Polymorphism databases

DMDMi224471834.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS45100.1. [Q9NVR5-2 ]
CCDS9691.2. [Q9NVR5-1 ]
RefSeqi NP_001077377.1. NM_001083908.1. [Q9NVR5-2 ]
NP_060609.2. NM_018139.2. [Q9NVR5-1 ]
UniGenei Hs.231761.

3D structure databases

ProteinModelPortali Q9NVR5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120471. 3 interactions.
DIPi DIP-59041N.
STRINGi 9606.ENSP00000298292.

PTM databases

PhosphoSitei Q9NVR5.

Polymorphism databases

DMDMi 224471834.

Proteomic databases

MaxQBi Q9NVR5.
PaxDbi Q9NVR5.
PRIDEi Q9NVR5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000298292 ; ENSP00000298292 ; ENSG00000165506 . [Q9NVR5-1 ]
ENST00000406043 ; ENSP00000384862 ; ENSG00000165506 . [Q9NVR5-2 ]
GeneIDi 55172.
KEGGi hsa:55172.
UCSCi uc001wws.4. human. [Q9NVR5-1 ]
uc001wwt.4. human. [Q9NVR5-2 ]

Organism-specific databases

CTDi 55172.
GeneCardsi GC14M050092.
GeneReviewsi DNAAF2.
H-InvDB HIX0011631.
HGNCi HGNC:20188. DNAAF2.
HPAi HPA002894.
HPA004113.
MIMi 612517. gene.
612518. phenotype.
neXtProti NX_Q9NVR5.
Orphaneti 244. Primary ciliary dyskinesia.
PharmGKBi PA134910310.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG40282.
HOGENOMi HOG000094570.
HOVERGENi HBG108080.
InParanoidi Q9NVR5.
OMAi CLDSRKP.
OrthoDBi EOG7CRTP9.
PhylomeDBi Q9NVR5.
TreeFami TF336215.

Miscellaneous databases

GeneWikii C14orf104.
GenomeRNAii 55172.
NextBioi 58957.
PROi Q9NVR5.
SOURCEi Search...

Gene expression databases

Bgeei Q9NVR5.
CleanExi HS_C14orf104.
Genevestigatori Q9NVR5.

Family and domain databases

InterProi IPR012981. PIH1.
[Graphical view ]
PANTHERi PTHR22997. PTHR22997. 1 hit.
Pfami PF08190. PIH1. 1 hit.
[Graphical view ]
ProtoNeti Search...

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.

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: July 9, 2014
This is version 98 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

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