DYH5_HUMAN
ID DYH5_HUMAN Reviewed; 4624 AA.
AC Q8TE73; Q92860; Q96L74; Q9H5S7; Q9HCG9;
DT 16-AUG-2004, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 3.
DT 03-AUG-2022, entry version 177.
DE RecName: Full=Dynein axonemal heavy chain 5;
DE AltName: Full=Axonemal beta dynein heavy chain 5;
DE AltName: Full=Ciliary dynein heavy chain 5;
GN Name=DNAH5; Synonyms=DNAHC5, HL1, KIAA1603;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN CILD3, AND VARIANT CILD3
RP ARG-3519.
RX PubMed=11788826; DOI=10.1038/ng817;
RA Olbrich H., Haeffner K., Kispert A., Voelkel A., Volz A., Sasmaz G.,
RA Reinhardt R., Hennig S., Lehrach H., Konietzko N., Zariwala M., Noone P.G.,
RA Knowles M., Mitchison H.M., Meeks M., Chung E.M.K., Hildebrandt F.,
RA Sudbrak R., Omran H.;
RT "Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of
RT left-right asymmetry.";
RL Nat. Genet. 30:143-144(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1956-2469, AND INVOLVEMENT IN CILD3.
RC TISSUE=Testis;
RX PubMed=11062149; DOI=10.1165/ajrcmb.23.5.4257;
RA Omran H., Haeffner K., Voelkel A., Kuehr J., Ketelsen U.-P., Ross U.-H.,
RA Konietzko N., Wienker T., Brandis M., Hildebrandt F.;
RT "Homozygosity mapping of a gene locus for primary ciliary dyskinesia on
RT chromosome 5p and identification of the heavy dynein chain DNAH5 as a
RT candidate gene.";
RL Am. J. Respir. Cell Mol. Biol. 23:696-702(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1956-2034.
RC TISSUE=Lung;
RX PubMed=8812413; DOI=10.1006/geno.1996.0422;
RA Vaughan K.T., Mikami A., Paschal B.M., Holzbaur E.L.F., Hughes S.M.,
RA Echeverri C.J., Moore K.J., Gilbert D.J., Copeland N.G., Jenkins N.A.,
RA Vallee R.B.;
RT "Multiple mouse chromosomal loci for dynein-based motility.";
RL Genomics 36:29-38(1996).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2966-4624, AND VARIANTS VAL-4134
RP AND VAL-4450.
RC TISSUE=Brain;
RX PubMed=10997877; DOI=10.1093/dnares/7.4.271;
RA Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVIII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:273-281(2000).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4231-4602, AND VARIANT VAL-4450.
RC TISSUE=Lung;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [6]
RP SUBUNIT, AND INTERACTION WITH DNAL1.
RX PubMed=21496787; DOI=10.1016/j.ajhg.2011.03.018;
RA Mazor M., Alkrinawi S., Chalifa-Caspi V., Manor E., Sheffield V.C.,
RA Aviram M., Parvari R.;
RT "Primary ciliary dyskinesia caused by homozygous mutation in DNAL1,
RT encoding dynein light chain 1.";
RL Am. J. Hum. Genet. 88:599-607(2011).
RN [7]
RP VARIANTS CILD3 LEU-1716; ASN-2264; LYS-2347; PRO-2501; SER-2843; SER-3409;
RP LEU-3843 AND VAL-4205.
RX PubMed=16627867; DOI=10.1164/rccm.200601-084oc;
RA Hornef N., Olbrich H., Horvath J., Zariwala M.A., Fliegauf M., Loges N.T.,
RA Wildhaber J., Noone P.G., Kennedy M., Antonarakis S.E., Blouin J.-L.,
RA Bartoloni L., Nuesslein T., Ahrens P., Griese M., Kuhl H., Sudbrak R.,
RA Knowles M.R., Reinhardt R., Omran H.;
RT "DNAH5 mutations are a common cause of primary ciliary dyskinesia with
RT outer dynein arm defects.";
RL Am. J. Respir. Crit. Care Med. 174:120-126(2006).
RN [8]
RP INVOLVEMENT IN CILD3, AND VARIANTS CILD3 GLN-1454; LEU-1716; ASN-2264;
RP GLY-2881 AND ASN-3605.
RX PubMed=25186273; DOI=10.1183/09031936.00052014;
RA Raidt J., Wallmeier J., Hjeij R., Onnebrink J.G., Pennekamp P., Loges N.T.,
RA Olbrich H., Haeffner K., Dougherty G.W., Omran H., Werner C.;
RT "Ciliary beat pattern and frequency in genetic variants of primary ciliary
RT dyskinesia.";
RL Eur. Respir. J. 44:1579-1588(2014).
RN [9]
RP TISSUE SPECIFICITY, AND SUBCELLULAR LOCATION.
RX PubMed=31178125; DOI=10.1016/j.ajhg.2019.04.015;
RA Whitfield M., Thomas L., Bequignon E., Schmitt A., Stouvenel L.,
RA Montantin G., Tissier S., Duquesnoy P., Copin B., Chantot S., Dastot F.,
RA Faucon C., Barbotin A.L., Loyens A., Siffroi J.P., Papon J.F., Escudier E.,
RA Amselem S., Mitchell V., Toure A., Legendre M.;
RT "Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm
RT Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.";
RL Am. J. Hum. Genet. 105:198-212(2019).
CC -!- FUNCTION: Force generating protein of respiratory cilia. Produces force
CC towards the minus ends of microtubules. Dynein has ATPase activity; the
CC force-producing power stroke is thought to occur on release of ADP.
CC Required for structural and functional integrity of the cilia of
CC ependymal cells lining the brain ventricles.
CC -!- SUBUNIT: Interacts with DNAL1 (PubMed:21496787). Consists of at least
CC two heavy chains and a number of intermediate and light chains.
CC {ECO:0000250|UniProtKB:M0R8U1, ECO:0000269|PubMed:21496787}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000269|PubMed:31178125}.
CC -!- TISSUE SPECIFICITY: Expressed in airway epithelial cells (at protein
CC level). Not detected in spermatozoa (at protein level).
CC {ECO:0000269|PubMed:31178125}.
CC -!- DOMAIN: Dynein heavy chains probably consist of an N-terminal stem
CC (which binds cargo and interacts with other dynein components), and the
CC head or motor domain. The motor contains six tandemly-linked AAA
CC domains in the head, which form a ring. A stalk-like structure (formed
CC by two of the coiled coil domains) protrudes between AAA 4 and AAA 5
CC and terminates in a microtubule-binding site. A seventh domain may also
CC contribute to this ring; it is not clear whether the N-terminus or the
CC C-terminus forms this extra domain. There are four well-conserved and
CC two non-conserved ATPase sites, one per AAA domain. Probably only one
CC of these (within AAA 1) actually hydrolyzes ATP, the others may serve a
CC regulatory function.
CC -!- DISEASE: Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]: A
CC disorder characterized by abnormalities of motile cilia. Respiratory
CC infections leading to chronic inflammation and bronchiectasis are
CC recurrent, due to defects in the respiratory cilia; reduced fertility
CC is often observed in male patients due to abnormalities of sperm tails.
CC Half of the patients exhibit randomization of left-right body asymmetry
CC and situs inversus, due to dysfunction of monocilia at the embryonic
CC node. Primary ciliary dyskinesia associated with situs inversus is
CC referred to as Kartagener syndrome. {ECO:0000269|PubMed:11062149,
CC ECO:0000269|PubMed:11788826, ECO:0000269|PubMed:16627867,
CC ECO:0000269|PubMed:25186273}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the dynein heavy chain family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB15543.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AY045575; AAK92217.1; -; mRNA.
DR EMBL; AY049075; AAL06603.1; -; mRNA.
DR EMBL; U61735; AAC50699.1; -; mRNA.
DR EMBL; AB046823; BAB13429.2; -; mRNA.
DR EMBL; AK026756; BAB15543.1; ALT_INIT; mRNA.
DR CCDS; CCDS3882.1; -.
DR RefSeq; NP_001360.1; NM_001369.2.
DR SMR; Q8TE73; -.
DR BioGRID; 108106; 16.
DR IntAct; Q8TE73; 13.
DR MINT; Q8TE73; -.
DR STRING; 9606.ENSP00000265104; -.
DR iPTMnet; Q8TE73; -.
DR PhosphoSitePlus; Q8TE73; -.
DR BioMuta; DNAH5; -.
DR DMDM; 116241343; -.
DR EPD; Q8TE73; -.
DR jPOST; Q8TE73; -.
DR MassIVE; Q8TE73; -.
DR MaxQB; Q8TE73; -.
DR PaxDb; Q8TE73; -.
DR PeptideAtlas; Q8TE73; -.
DR PRIDE; Q8TE73; -.
DR ProteomicsDB; 74412; -.
DR Antibodypedia; 50446; 62 antibodies from 15 providers.
DR DNASU; 1767; -.
DR Ensembl; ENST00000265104.5; ENSP00000265104.4; ENSG00000039139.11.
DR GeneID; 1767; -.
DR KEGG; hsa:1767; -.
DR MANE-Select; ENST00000265104.5; ENSP00000265104.4; NM_001369.3; NP_001360.1.
DR UCSC; uc003jfd.4; human.
DR CTD; 1767; -.
DR DisGeNET; 1767; -.
DR GeneCards; DNAH5; -.
DR GeneReviews; DNAH5; -.
DR HGNC; HGNC:2950; DNAH5.
DR HPA; ENSG00000039139; Tissue enhanced (brain, choroid plexus, fallopian tube).
DR MalaCards; DNAH5; -.
DR MIM; 603335; gene.
DR MIM; 608644; phenotype.
DR neXtProt; NX_Q8TE73; -.
DR OpenTargets; ENSG00000039139; -.
DR Orphanet; 244; Primary ciliary dyskinesia.
DR PharmGKB; PA27403; -.
DR VEuPathDB; HostDB:ENSG00000039139; -.
DR eggNOG; KOG3595; Eukaryota.
DR GeneTree; ENSGT00940000155533; -.
DR HOGENOM; CLU_000038_9_1_1; -.
DR InParanoid; Q8TE73; -.
DR OMA; RNFSNMK; -.
DR OrthoDB; 6295at2759; -.
DR PhylomeDB; Q8TE73; -.
DR TreeFam; TF316836; -.
DR PathwayCommons; Q8TE73; -.
DR SignaLink; Q8TE73; -.
DR SIGNOR; Q8TE73; -.
DR BioGRID-ORCS; 1767; 11 hits in 1069 CRISPR screens.
DR ChiTaRS; DNAH5; human.
DR GeneWiki; DNAH5; -.
DR GenomeRNAi; 1767; -.
DR Pharos; Q8TE73; Tbio.
DR PRO; PR:Q8TE73; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q8TE73; protein.
DR Bgee; ENSG00000039139; Expressed in bronchial epithelial cell and 134 other tissues.
DR Genevisible; Q8TE73; HS.
DR GO; GO:0097728; C:9+0 motile cilium; IEA:Ensembl.
DR GO; GO:0097729; C:9+2 motile cilium; IDA:GO_Central.
DR GO; GO:0005930; C:axoneme; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IDA:MGI.
DR GO; GO:0030286; C:dynein complex; IBA:GO_Central.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0005874; C:microtubule; IEA:UniProtKB-KW.
DR GO; GO:0031514; C:motile cilium; IDA:UniProtKB.
DR GO; GO:0036157; C:outer dynein arm; IDA:SYSCILIA_CCNET.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0045505; F:dynein intermediate chain binding; IBA:GO_Central.
DR GO; GO:0051959; F:dynein light intermediate chain binding; IBA:GO_Central.
DR GO; GO:0008569; F:minus-end-directed microtubule motor activity; IBA:GO_Central.
DR GO; GO:0060271; P:cilium assembly; IMP:SYSCILIA_CCNET.
DR GO; GO:0003341; P:cilium movement; IMP:SYSCILIA_CCNET.
DR GO; GO:0007368; P:determination of left/right symmetry; IMP:SYSCILIA_CCNET.
DR GO; GO:0003351; P:epithelial cilium movement involved in extracellular fluid movement; IEA:Ensembl.
DR GO; GO:0051649; P:establishment of localization in cell; IEA:Ensembl.
DR GO; GO:0030317; P:flagellated sperm motility; IMP:SYSCILIA_CCNET.
DR GO; GO:0007507; P:heart development; IEA:Ensembl.
DR GO; GO:0021670; P:lateral ventricle development; IEA:Ensembl.
DR GO; GO:0007018; P:microtubule-based movement; IBA:GO_Central.
DR GO; GO:0036158; P:outer dynein arm assembly; IMP:SYSCILIA_CCNET.
DR Gene3D; 1.10.8.710; -; 1.
DR Gene3D; 1.10.8.720; -; 1.
DR Gene3D; 1.20.140.100; -; 1.
DR Gene3D; 3.10.490.20; -; 1.
DR Gene3D; 3.20.180.20; -; 1.
DR Gene3D; 3.40.50.300; -; 5.
DR InterPro; IPR003593; AAA+_ATPase.
DR InterPro; IPR035699; AAA_6.
DR InterPro; IPR035706; AAA_9.
DR InterPro; IPR041658; AAA_lid_11.
DR InterPro; IPR042219; AAA_lid_11_sf.
DR InterPro; IPR026983; DHC_fam.
DR InterPro; IPR041589; DNAH3_AAA_lid_1.
DR InterPro; IPR042222; Dynein_2_N.
DR InterPro; IPR043157; Dynein_AAA1S.
DR InterPro; IPR041466; Dynein_AAA5_ext.
DR InterPro; IPR041228; Dynein_C.
DR InterPro; IPR043160; Dynein_C_barrel.
DR InterPro; IPR024743; Dynein_HC_stalk.
DR InterPro; IPR024317; Dynein_heavy_chain_D4_dom.
DR InterPro; IPR004273; Dynein_heavy_D6_P-loop.
DR InterPro; IPR013602; Dynein_heavy_linker.
DR InterPro; IPR013594; Dynein_heavy_tail.
DR InterPro; IPR042228; Dynein_linker_3.
DR InterPro; IPR027417; P-loop_NTPase.
DR PANTHER; PTHR10676; PTHR10676; 1.
DR Pfam; PF12774; AAA_6; 1.
DR Pfam; PF12780; AAA_8; 1.
DR Pfam; PF12781; AAA_9; 1.
DR Pfam; PF17857; AAA_lid_1; 1.
DR Pfam; PF18198; AAA_lid_11; 1.
DR Pfam; PF08385; DHC_N1; 1.
DR Pfam; PF08393; DHC_N2; 1.
DR Pfam; PF17852; Dynein_AAA_lid; 1.
DR Pfam; PF18199; Dynein_C; 1.
DR Pfam; PF03028; Dynein_heavy; 1.
DR Pfam; PF12777; MT; 1.
DR SMART; SM00382; AAA; 3.
DR SUPFAM; SSF52540; SSF52540; 4.
PE 1: Evidence at protein level;
KW ATP-binding; Cell projection; Ciliopathy; Cilium; Coiled coil; Cytoplasm;
KW Cytoskeleton; Disease variant; Dynein; Kartagener syndrome; Microtubule;
KW Motor protein; Nucleotide-binding; Primary ciliary dyskinesia;
KW Reference proteome; Repeat.
FT CHAIN 1..4624
FT /note="Dynein axonemal heavy chain 5"
FT /id="PRO_0000114630"
FT REGION 1..1941
FT /note="Stem"
FT /evidence="ECO:0000250"
FT REGION 1942..2164
FT /note="AAA 1"
FT /evidence="ECO:0000250"
FT REGION 2224..2443
FT /note="AAA 2"
FT /evidence="ECO:0000250"
FT REGION 2550..2803
FT /note="AAA 3"
FT /evidence="ECO:0000250"
FT REGION 2916..3170
FT /note="AAA 4"
FT /evidence="ECO:0000250"
FT REGION 3185..3482
FT /note="Stalk"
FT /evidence="ECO:0000250"
FT REGION 3567..3797
FT /note="AAA 5"
FT /evidence="ECO:0000250"
FT REGION 4012..4226
FT /note="AAA 6"
FT /evidence="ECO:0000250"
FT COILED 284..305
FT /evidence="ECO:0000255"
FT COILED 740..825
FT /evidence="ECO:0000255"
FT COILED 1435..1465
FT /evidence="ECO:0000255"
FT COILED 3195..3302
FT /evidence="ECO:0000255"
FT COILED 3426..3491
FT /evidence="ECO:0000255"
FT COILED 3732..3817
FT /evidence="ECO:0000255"
FT COILED 4392..4420
FT /evidence="ECO:0000255"
FT BINDING 1980..1987
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT BINDING 2262..2269
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT VARIANT 12
FT /note="H -> Q (in dbSNP:rs339445)"
FT /id="VAR_019603"
FT VARIANT 24
FT /note="G -> E (in dbSNP:rs1530496)"
FT /id="VAR_019604"
FT VARIANT 558
FT /note="T -> A (in dbSNP:rs1530498)"
FT /id="VAR_019605"
FT VARIANT 591
FT /note="L -> R (in dbSNP:rs35090077)"
FT /id="VAR_053840"
FT VARIANT 591
FT /note="L -> V (in dbSNP:rs35090077)"
FT /id="VAR_053841"
FT VARIANT 620
FT /note="Q -> K (in dbSNP:rs34076967)"
FT /id="VAR_053842"
FT VARIANT 765
FT /note="K -> N (in dbSNP:rs4701997)"
FT /id="VAR_053843"
FT VARIANT 766
FT /note="I -> L (in dbSNP:rs4701997)"
FT /id="VAR_027903"
FT VARIANT 1006
FT /note="S -> G (in dbSNP:rs16902886)"
FT /id="VAR_027904"
FT VARIANT 1081
FT /note="M -> V (in dbSNP:rs16902880)"
FT /id="VAR_027905"
FT VARIANT 1454
FT /note="R -> Q (in CILD3; dbSNP:rs542708170)"
FT /evidence="ECO:0000269|PubMed:25186273"
FT /id="VAR_072469"
FT VARIANT 1716
FT /note="R -> L (in CILD3; dbSNP:rs74799487)"
FT /evidence="ECO:0000269|PubMed:16627867,
FT ECO:0000269|PubMed:25186273"
FT /id="VAR_030705"
FT VARIANT 2264
FT /note="S -> N (in CILD3; dbSNP:rs78484669)"
FT /evidence="ECO:0000269|PubMed:16627867,
FT ECO:0000269|PubMed:25186273"
FT /id="VAR_030706"
FT VARIANT 2347
FT /note="E -> K (in CILD3)"
FT /evidence="ECO:0000269|PubMed:16627867"
FT /id="VAR_030707"
FT VARIANT 2425
FT /note="R -> H (in dbSNP:rs35900306)"
FT /id="VAR_053844"
FT VARIANT 2463
FT /note="Q -> R (in dbSNP:rs10078391)"
FT /id="VAR_019606"
FT VARIANT 2501
FT /note="R -> P (in CILD3; dbSNP:rs78853309)"
FT /evidence="ECO:0000269|PubMed:16627867"
FT /id="VAR_030708"
FT VARIANT 2843
FT /note="F -> S (in CILD3; dbSNP:rs77377082)"
FT /evidence="ECO:0000269|PubMed:16627867"
FT /id="VAR_030709"
FT VARIANT 2862
FT /note="L -> F (in dbSNP:rs10513155)"
FT /id="VAR_019607"
FT VARIANT 2881
FT /note="A -> G (in CILD3; dbSNP:rs727502973)"
FT /evidence="ECO:0000269|PubMed:25186273"
FT /id="VAR_072470"
FT VARIANT 3409
FT /note="W -> S (in CILD3; dbSNP:rs755407407)"
FT /evidence="ECO:0000269|PubMed:16627867"
FT /id="VAR_030710"
FT VARIANT 3519
FT /note="G -> R (in CILD3; disease phenotype consistent with
FT Kartagener syndrome; dbSNP:rs79967166)"
FT /evidence="ECO:0000269|PubMed:11788826"
FT /id="VAR_019608"
FT VARIANT 3605
FT /note="D -> N (in CILD3)"
FT /evidence="ECO:0000269|PubMed:25186273"
FT /id="VAR_072471"
FT VARIANT 3791
FT /note="T -> I (in dbSNP:rs17263496)"
FT /id="VAR_027906"
FT VARIANT 3843
FT /note="S -> L (in CILD3; dbSNP:rs78346432)"
FT /evidence="ECO:0000269|PubMed:16627867"
FT /id="VAR_030711"
FT VARIANT 4134
FT /note="A -> V (in dbSNP:rs30168)"
FT /evidence="ECO:0000269|PubMed:10997877"
FT /id="VAR_019609"
FT VARIANT 4205
FT /note="G -> V (in CILD3; dbSNP:rs79185772)"
FT /evidence="ECO:0000269|PubMed:16627867"
FT /id="VAR_030712"
FT VARIANT 4220
FT /note="T -> A (in dbSNP:rs2277046)"
FT /id="VAR_019610"
FT VARIANT 4450
FT /note="I -> V (in dbSNP:rs3734110)"
FT /evidence="ECO:0000269|PubMed:10997877,
FT ECO:0000269|PubMed:14702039"
FT /id="VAR_019611"
FT CONFLICT 2000
FT /note="Y -> D (in Ref. 3; AAC50699)"
FT /evidence="ECO:0000305"
FT CONFLICT 2027
FT /note="S -> A (in Ref. 2; AAL06603 and 3; AAC50699)"
FT /evidence="ECO:0000305"
FT CONFLICT 2207
FT /note="D -> N (in Ref. 2; AAL06603)"
FT /evidence="ECO:0000305"
FT CONFLICT 2227
FT /note="S -> N (in Ref. 2; AAL06603)"
FT /evidence="ECO:0000305"
FT CONFLICT 2232
FT /note="E -> K (in Ref. 2; AAL06603)"
FT /evidence="ECO:0000305"
FT CONFLICT 2248..2250
FT /note="LFE -> QTK (in Ref. 2; AAL06603)"
FT /evidence="ECO:0000305"
FT CONFLICT 4429
FT /note="R -> Q (in Ref. 5; BAB15543)"
FT /evidence="ECO:0000305"
FT CONFLICT 4451
FT /note="S -> F (in Ref. 5; BAB15543)"
FT /evidence="ECO:0000305"
FT CONFLICT 4527
FT /note="A -> T (in Ref. 5; BAB15543)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 4624 AA; 529021 MW; B9BC9F20A4C581BE CRC64;
MFRIGRRQLW KHSVTRVLTQ RLKGEKEAKR ALLDARHNYL FAIVASCLDL NKTEVEDAIL
EGNQIERIDQ LFAVGGLRHL MFYYQDVEEA ETGQLGSLGG VNLVSGKIKK PKVFVTEGND
VALTGVCVFF IRTDPSKAIT PDNIHQEVSF NMLDAADGGL LNSVRRLLSD IFIPALRATS
HGWGELEGLQ DAANIRQEFL SSLEGFVNVL SGAQESLKEK VNLRKCDILE LKTLKEPTDY
LTLANNPETL GKIEDCMKVW IKQTEQVLAE NNQLLKEADD VGPRAELEHW KKRLSKFNYL
LEQLKSPDVK AVLAVLAAAK SKLLKTWREM DIRITDATNE AKDNVKYLYT LEKCCDPLYS
SDPLSMMDAI PTLINAIKMI YSISHYYNTS EKITSLFVKV TNQIISACKA YITNNGTASI
WNQPQDVVEE KILSAIKLKQ EYQLCFHKTK QKLKQNPNAK QFDFSEMYIF GKFETFHRRL
AKIIDIFTTL KTYSVLQDST IEGLEDMATK YQGIVATIKK KEYNFLDQRK MDFDQDYEEF
CKQTNDLHNE LRKFMDVTFA KIQNTNQALR MLKKFERLNI PNLGIDDKYQ LILENYGADI
DMISKLYTKQ KYDPPLARNQ PPIAGKILWA RQLFHRIQQP MQLFQQHPAV LSTAEAKPII
RSYNRMAKVL LEFEVLFHRA WLRQIEEIHV GLEASLLVKA PGTGELFVNF DPQILILFRE
TECMAQMGLE VSPLATSLFQ KRDRYKRNFS NMKMMLAEYQ RVKSKIPAAI EQLIVPHLAK
VDEALQPGLA ALTWTSLNIE AYLENTFAKI KDLELLLDRV NDLIEFRIDA ILEEMSSTPL
CQLPQEEPLT CEEFLQMTKD LCVNGAQILH FKSSLVEEAV NELVNMLLDV EVLSEEESEK
ISNENSVNYK NESSAKREEG NFDTLTSSIN ARANALLLTT VTRKKKETEM LGEEARELLS
HFNHQNMDAL LKVTRNTLEA IRKRIHSSHT INFRDSNSAS NMKQNSLPIF RASVTLAIPN
IVMAPALEDV QQTLNKAVEC IISVPKGVRQ WSSELLSKKK IQERKMAALQ SNEDSDSDVE
MGENELQDTL EIASVNLPIP VQTKNYYKNV SENKEIVKLV SVLSTIINST KKEVITSMDC
FKRYNHIWQK GKEEAIKTFI TQSPLLSEFE SQILYFQNLE QEINAEPEYV CVGSIALYTA
DLKFALTAET KAWMVVIGRH CNKKYRSEME NIFMLIEEFN KKLNRPIKDL DDIRIAMAAL
KEIREEQISI DFQVGPIEES YALLNRYGLL IAREEIDKVD TLHYAWEKLL ARAGEVQNKL
VSLQPSFKKE LISAVEVFLQ DCHQFYLDYD LNGPMASGLK PQEASDRLIM FQNQFDNIYR
KYITYTGGEE LFGLPATQYP QLLEIKKQLN LLQKIYTLYN SVIETVNSYY DILWSEVNIE
KINNELLEFQ NRCRKLPRAL KDWQAFLDLK KIIDDFSECC PLLEYMASKA MMERHWERIT
TLTGHSLDVG NESFKLRNIM EAPLLKYKEE IEDICISAVK ERDIEQKLKQ VINEWDNKTF
TFGSFKTRGE LLLRGDSTSE IIANMEDSLM LLGSLLSNRY NMPFKAQIQK WVQYLSNSTD
IIESWMTVQN LWIYLEAVFV GGDIAKQLPK EAKRFSNIDK SWVKIMTRAH EVPSVVQCCV
GDETLGQLLP HLLDQLEICQ KSLTGYLEKK RLCFPRFFFV SDPALLEILG QASDSHTIQA
HLLNVFDNIK SVKFHEKIYD RILSISSQEG ETIELDKPVM AEGNVEVWLN SLLEESQSSL
HLVIRQAAAN IQETGFQLTE FLSSFPAQVG LLGIQMIWTR DSEEALRNAK FDKKIMQKTN
QAFLELLNTL IDVTTRDLSS TERVKYETLI TIHVHQRDIF DDLCHMHIKS PMDFEWLKQC
RFYFNEDSDK MMIHITDVAF IYQNEFLGCT DRLVITPLTD RCYITLAQAL GMSMGGAPAG
PAGTGKTETT KDMGRCLGKY VVVFNCSDQM DFRGLGRIFK GLAQSGSWGC FDEFNRIDLP
VLSVAAQQIS IILTCKKEHK KSFIFTDGDN VTMNPEFGLF LTMNPGYAGR QELPENLKIN
FRSVAMMVPD RQIIIRVKLA SCGFIDNVVL ARKFFTLYKL CEEQLSKQVH YDFGLRNILS
VLRTLGAAKR ANPMDTESTI VMRVLRDMNL SKLIDEDEPL FLSLIEDLFP NILLDKAGYP
ELEAAISRQV EEAGLINHPP WKLKVIQLFE TQRVRHGMMT LGPSGAGKTT CIHTLMRAMT
DCGKPHREMR MNPKAITAPQ MFGRLDVATN DWTDGIFSTL WRKTLRAKKG EHIWIILDGP
VDAIWIENLN SVLDDNKTLT LANGDRIPMA PNCKIIFEPH NIDNASPATV SRNGMVFMSS
SILDWSPILE GFLKKRSPQE AEILRQLYTE SFPDLYRFCI QNLEYKMEVL EAFVITQSIN
MLQGLIPLKE QGGEVSQAHL GRLFVFALLW SAGAALELDG RRRLELWLRS RPTGTLELPP
PAGPGDTAFD YYVAPDGTWT HWNTRTQEYL YPSDTTPEYG SILVPNVDNV RTDFLIQTIA
KQGKAVLLIG EQGTAKTVII KGFMSKYDPE CHMIKSLNFS SATTPLMFQR TIESYVDKRM
GTTYGPPAGK KMTVFIDDVN MPIINEWGDQ VTNEIVRQLM EQNGFYNLEK PGEFTSIVDI
QFLAAMIHPG GGRNDIPQRL KRQFSIFNCT LPSEASVDKI FGVIGVGHYC TQRGFSEEVR
DSVTKLVPLT RRLWQMTKIK MLPTPAKFHY VFNLRDLSRV WQGMLNTTSE VIKEPNDLLK
LWKHECKRVI ADRFTVSSDV TWFDKALVSL VEEEFGEEKK LLVDCGIDTY FVDFLRDAPE
AAGETSEEAD AETPKIYEPI ESFSHLKERL NMFLQLYNES IRGAGMDMVF FADAMVHLVK
ISRVIRTPQG NALLVGVGGS GKQSLTRLAS FIAGYVSFQI TLTRSYNTSN LMEDLKVLYR
TAGQQGKGIT FIFTDNEIKD ESFLEYMNNV LSSGEVSNLF ARDEIDEINS DLASVMKKEF
PRCLPTNENL HDYFMSRVRQ NLHIVLCFSP VGEKFRNRAL KFPALISGCT IDWFSRWPKD
ALVAVSEHFL TSYDIDCSLE IKKEVVQCMG SFQDGVAEKC VDYFQRFRRS THVTPKSYLS
FIQGYKFIYG EKHVEVRTLA NRMNTGLEKL KEASESVAAL SKELEAKEKE LQVANDKADM
VLKEVTMKAQ AAEKVKAEVQ KVKDRAQAIV DSISKDKAIA EEKLEAAKPA LEEAEAALQT
IRPSDIATVR TLGRPPHLIM RIMDCVLLLF QRKVSAVKID LEKSCTMPSW QESLKLMTAG
NFLQNLQQFP KDTINEEVIE FLSPYFEMPD YNIETAKRVC GNVAGLCSWT KAMASFFSIN
KEVLPLKANL VVQENRHLLA MQDLQKAQAE LDDKQAELDV VQAEYEQAMT EKQTLLEDAE
RCRHKMQTAS TLISGLAGEK ERWTEQSQEF AAQTKRLVGD VLLATAFLSY SGPFNQEFRD
LLLNDWRKEM KARKIPFGKN LNLSEMLIDA PTISEWNLQG LPNDDLSIQN GIIVTKASRY
PLLIDPQTQG KIWIKNKESR NELQITSLNH KYFRNHLEDS LSLGRPLLIE DVGEELDPAL
DNVLERNFIK TGSTFKVKVG DKEVDVLDGF RLYITTKLPN PAYTPEISAR TSIIDFTVTM
KGLEDQLLGR VILTEKQELE KERTHLMEDV TANKRRMKEL EDNLLYRLTS TQGSLVEDES
LIVVLSNTKR TAEEVTQKLE ISAETEVQIN SAREEYRPVA TRGSILYFLI TEMRLVNEMY
QTSLRQFLGL FDLSLARSVK SPITSKRIAN IIEHMTYEVY KYAARGLYEE HKFLFTLLLT
LKIDIQRNRV KHEEFLTLIK GGASLDLKAC PPKPSKWILD ITWLNLVELS KLRQFSDVLD
QISRNEKMWK IWFDKENPEE EPLPNAYDKS LDCFRRLLLI RSWCPDRTIA QARKYIVDSM
GEKYAEGVIL DLEKTWEESD PRTPLICLLS MGSDPTDSII ALGKRLKIET RYVSMGQGQE
VHARKLLQQT MANGGWALLQ NCHLGLDFMD ELMDIIIETE LVHDAFRLWM TTEAHKQFPI
TLLQMSIKFA NDPPQGLRAG LKRTYSGVSQ DLLDVSSGSQ WKPMLYAVAF LHSTVQERRK
FGALGWNIPY EFNQADFNAT VQFIQNHLDD MDVKKGVSWT TIRYMIGEIQ YGGRVTDDYD
KRLLNTFAKV WFSENMFGPD FSFYQGYNIP KCSTVDNYLQ YIQSLPAYDS PEVFGLHPNA
DITYQSKLAK DVLDTILGIQ PKDTSGGGDE TREAVVARLA DDMLEKLPPD YVPFEVKERL
QKMGPFQPMN IFLRQEIDRM QRVLSLVRST LTELKLAIDG TIIMSENLRD ALDCMFDARI
PAWWKKASWI SSTLGFWFTE LIERNSQFTS WVFNGRPHCF WMTGFFNPQG FLTAMRQEIT
RANKGWALDN MVLCNEVTKW MKDDISAPPT EGVYVYGLYL EGAGWDKRNM KLIESKPKVL
FELMPVIRIY AENNTLRDPR FYSCPIYKKP VRTDLNYIAA VDLRTAQTPE HWVLRGVALL
CDVK
