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   27-MAR-2024, entry version 186.
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};
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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   PDB; 8J07; EM; 4.10 A; n0/p0/r0/t0=1-4624.
DR   PDBsum; 8J07; -.
DR   EMDB; EMD-35888; -.
DR   SMR; Q8TE73; -.
DR   BioGRID; 108106; 19.
DR   IntAct; Q8TE73; 13.
DR   MINT; Q8TE73; -.
DR   STRING; 9606.ENSP00000265104; -.
DR   iPTMnet; Q8TE73; -.
DR   PhosphoSitePlus; Q8TE73; -.
DR   SwissPalm; Q8TE73; -.
DR   BioMuta; DNAH5; -.
DR   DMDM; 116241343; -.
DR   EPD; Q8TE73; -.
DR   jPOST; Q8TE73; -.
DR   MassIVE; Q8TE73; -.
DR   MaxQB; Q8TE73; -.
DR   PaxDb; 9606-ENSP00000265104; -.
DR   PeptideAtlas; Q8TE73; -.
DR   ProteomicsDB; 74412; -.
DR   Pumba; Q8TE73; -.
DR   Antibodypedia; 50446; 94 antibodies from 16 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   AGR; HGNC:2950; -.
DR   CTD; 1767; -.
DR   DisGeNET; 1767; -.
DR   GeneCards; DNAH5; -.
DR   GeneReviews; DNAH5; -.
DR   HGNC; HGNC:2950; DNAH5.
DR   HPA; ENSG00000039139; Tissue enhanced (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; FQKRDRY; -.
DR   OrthoDB; 166463at2759; -.
DR   PhylomeDB; Q8TE73; -.
DR   TreeFam; TF316836; -.
DR   PathwayCommons; Q8TE73; -.
DR   SignaLink; Q8TE73; -.
DR   SIGNOR; Q8TE73; -.
DR   BioGRID-ORCS; 1767; 12 hits in 1147 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 135 other cell types or tissues.
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: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:0016887; F:ATP hydrolysis activity; IEA:InterPro.
DR   GO; GO:0045505; F:dynein intermediate chain binding; IEA:InterPro.
DR   GO; GO:0051959; F:dynein light intermediate chain binding; IEA:InterPro.
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:0060294; P:cilium movement involved in cell motility; IBA:GO_Central.
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:0036158; P:outer dynein arm assembly; IMP:SYSCILIA_CCNET.
DR   Gene3D; 1.10.287.2620; -; 1.
DR   Gene3D; 1.10.472.130; -; 1.
DR   Gene3D; 1.10.8.1220; -; 1.
DR   Gene3D; 1.10.8.710; -; 1.
DR   Gene3D; 1.20.1270.280; -; 1.
DR   Gene3D; 1.20.58.1120; -; 1.
DR   Gene3D; 1.20.920.20; -; 1.
DR   Gene3D; 1.20.920.30; -; 1.
DR   Gene3D; 3.10.490.20; -; 1.
DR   Gene3D; 6.10.140.1060; -; 1.
DR   Gene3D; 1.20.140.100; Dynein heavy chain, N-terminal domain 2; 1.
DR   Gene3D; 3.20.180.20; Dynein heavy chain, N-terminal domain 2; 1.
DR   Gene3D; 3.40.50.300; P-loop containing nucleotide triphosphate hydrolases; 5.
DR   Gene3D; 1.10.8.720; Region D6 of dynein motor; 1.
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; PTHR46532:SF13; DYNEIN CYTOPLASMIC 1 HEAVY CHAIN 1; 1.
DR   PANTHER; PTHR46532; MALE FERTILITY FACTOR KL5; 1.
DR   Pfam; PF12774; AAA_6; 1.
DR   Pfam; PF12775; AAA_7; 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; P-loop containing nucleoside triphosphate hydrolases; 4.
DR   Genevisible; Q8TE73; HS.
PE   1: Evidence at protein level;
KW   3D-structure; ATP-binding; Cell projection; Ciliopathy; Cilium;
KW   Coiled coil; Cytoplasm; Cytoskeleton; Disease variant; Dynein;
KW   Kartagener syndrome; Microtubule; Motor protein; Nucleotide-binding;
KW   Primary ciliary dyskinesia; 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
//