Q9NVR5B9WS54C0JAP7Q86TR1Q86TY8Q969Z5KTU_HUMANProtein kintounDynein assembly factor 2, axonemalDNAAF2C14orf104KTUHomo sapiensHumanEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomoKtu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.NUCLEOTIDE SEQUENCE [MRNA]INVOLVEMENT IN CILD10SUBCELLULAR LOCATIONFull-length cDNA libraries and normalization.NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-424NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 396-837 (ISOFORM 2)Complete sequencing and characterization of 21,243 full-length human cDNAs.NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 379-837 (ISOFORM 1)The DNA sequence and analysis of human chromosome 14.NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 386-837 (ISOFORM 2)Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]A quantitative atlas of mitotic phosphorylation.PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-461 AND SER-467IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-640; SER-641 AND SER-773IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]Toward a comprehensive characterization of a human cancer cell phosphoproteome.PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-773IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]DYX1C1 is required for axonemal dynein assembly and ciliary motility.INTERACTION WITH DNAAF4Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.INVOLVEMENT IN CILD10Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.INTERACTION WITH DNAAF6Mutations in C11orf70 cause primary ciliary dyskinesia with randomization of left/right body asymmetry due to defects of outer and inner dynein arms.INTERACTION WITH CFAP300Required 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.Interacts with CFAP300 (PubMed:29727693). Interacts with DNAAF4 (PubMed:23872636). Interacts with DNAAF6/PIH1D3 (PubMed:28041644). Interacts with DNAI2 and HSPA1A (By similarity).CytoplasmDynein axonemal particleLocalizes in the apical cytoplasm around the gamma-tubulin-positive pericentriolar region, not in the cilia.Q9NVR5-11Q9NVR5-22Ciliary dyskinesia, primary, 10
CILD10
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.The disease is caused by variants affecting the gene represented in this entry.Isoform 2May be due to exon skipping.Belongs to the PIH1 family. Kintoun subfamily.Truncated N-terminus.Extended N-terminus.Alternative splicingCiliopathyCytoplasmKartagener syndromePhosphoproteinPrimary ciliary dyskinesiaReference proteomeEDDGCGMAKAAASSSLEDLDLSGEEVQRLTSAFQDPEFRRMFSQYAEELTDPENRRRYEAEITALERERGVEVRFVHPEPGHVLRTSLDGARRCFVNVCSNALVGAPSSRPGSGGDRGAAPGSHWSLPYSLAPGREYAGRSSSRYMVYDVVFHPDALALARRHEGFRQMLDATALEAVEKQFGVKLDRRNAKTLKAKYKGTPEAAVLRTPLPGVIPARPDGEPKGPLPDFPYPYQYPAAPGPRAPSPPEAALQPAPTEPRYSVVQRHHVDLQDYRCSRDSAPSPVPHELVITIELPLLRSAEQAALEVTRKLLCLDSRKPDYRLRLSLPYPVDDGRGKAQFNKARRQLVVTLPVVLPAARREPAVAVAAAAPEESADRSGTDGQACASAREGEAGPARSRAEDGGHDTCVAGAAGSGVTTLGDPEVAPPPAAAGEERVPKPGEQDLSRHAGSPPGSVEEPSPGGENSPGGGGSPCLSSRSLAWGSSAGRESARGDSSVETREESEGTGGQRSACAMGGPGTKSGEPLCPPLLCNQDKETLTLLIQVPRIQPQSLQGDLNPLWYKLRFSAQDLVYSFFLQFAPENKLSTTEPVISISSNNAVIELAKSPESHGHWREWYYGVNNDSLEERLFVNEENVNEFLEEVLSSPFKQSMSLTPPLIEVLQVTDNKIQINAKLQECSNSDQLQGKEERVNEESHLTEKEYIEHCNTPTTDSDSSIAVKALQIDSFGLVTCFQQESLDVSQMILGKSQQPESKMQSEFIKEKSATCSNEEKDNLNESVITEEKETDGDHLSSLLNKTTVHNIPGFDSIKETNMQDGSVQVIKDHVTNCAFSFQNSLLYDLD
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