DYH17_HUMAN
ID DYH17_HUMAN Reviewed; 4462 AA.
AC Q9UFH2; O00431; O15206; Q2M2Y1; Q6ZRQ2; Q8N7Q7;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 12-SEP-2018, sequence version 3.
DT 03-AUG-2022, entry version 141.
DE RecName: Full=Dynein axonemal heavy chain 17 {ECO:0000305};
DE AltName: Full=Axonemal beta dynein heavy chain 17;
DE AltName: Full=Axonemal dynein heavy chain-like protein 1;
DE AltName: Full=Ciliary dynein heavy chain 17;
DE AltName: Full=Ciliary dynein heavy chain-like protein 1;
DE AltName: Full=Dynein axonemal light chain 2;
GN Name=DNAH17 {ECO:0000312|HGNC:HGNC:2946}; Synonyms=DNAHL1, DNEL2;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 264-4462 (ISOFORM 4).
RC TISSUE=Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 278-4462 (ISOFORM 4).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1852-1952 (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=9373155; DOI=10.1016/s0378-1119(97)00417-4;
RA Neesen J., Koehler M.R., Kirschner R., Steinlein C., Kreutzberger J.,
RA Engel W., Schmid M.;
RT "Identification of dynein heavy chain genes expressed in human and mouse
RT testis: chromosomal localization of an axonemal dynein gene.";
RL Gene 200:193-202(1997).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3185-4462 (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 3284-4462 (ISOFORM 1), AND TISSUE
RP SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=9545504; DOI=10.1007/s003359900782;
RA Milisav I., Affara N.A.;
RT "A potential human axonemal dynein heavy-chain gene maps to 17q25.";
RL Mamm. Genome 9:404-407(1998).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [8]
RP INVOLVEMENT IN SPGF39, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANTS
RP SPGF39 431-TYR--VAL-4462 DEL; TYR-1829; LEU-ASP-PRO-VAL-3496 INS; LEU-3499
RP AND PRO-3595, CHARACTERIZATION OF VARIANTS SPGF39 TYR-1829;
RP LEU-ASP-PRO-VAL-3496 INS; LEU-3499 AND PRO-3595, AND DEVELOPMENTAL STAGE.
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 component of the outer dynein arms
CC (ODAs) in the sperm flagellum. Produces force towards the minus ends of
CC microtubules. Dynein has ATPase activity; the force-producing power
CC stroke is thought to occur on release of ADP (Probable). Plays a major
CC role in sperm motility, implicated in sperm flagellar assembly and
CC beating (PubMed:31178125). {ECO:0000269|PubMed:31178125,
CC ECO:0000305|PubMed:31178125}.
CC -!- SUBUNIT: Consists of at least two heavy chains and a number of
CC intermediate and light chains.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, flagellum axoneme
CC {ECO:0000269|PubMed:31178125}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9UFH2-1; Sequence=Displayed;
CC Name=4;
CC IsoId=Q9UFH2-4; Sequence=VSP_032109, VSP_032110, VSP_032111;
CC -!- TISSUE SPECIFICITY: Expressed in testis (PubMed:9545504). Expressed in
CC spermatozoa (at protein level). Not detected in airway epithelial cells
CC (at protein level) (PubMed:31178125). {ECO:0000269|PubMed:31178125,
CC ECO:0000269|PubMed:9545504}.
CC -!- DEVELOPMENTAL STAGE: Expression is detected in the germ cells from the
CC early spermatocyte to late spermatid stages but not in the somatic
CC cells (Leydig, Sertoli cells). {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 (By similarity). {ECO:0000250}.
CC -!- DISEASE: Spermatogenic failure 39 (SPGF39) [MIM:618643]: An autosomal
CC recessive infertility disorder characterized by
CC asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic
CC anomalies including short, absent, irregularly shaped and coiled
CC flagella, and abnormalities of the head and midpiece.
CC {ECO:0000269|PubMed:31178125}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: [Isoform 1]: Gene prediction based on partial mRNA data.
CC {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the dynein heavy chain family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAA04165.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=CAB59252.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC016182; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC061992; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF510431; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK097776; BAC05170.1; -; mRNA.
DR EMBL; BC105107; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; Z83799; CAB06053.1; -; mRNA.
DR EMBL; AL122077; CAB59252.1; ALT_INIT; mRNA.
DR EMBL; AJ000522; CAA04165.1; ALT_FRAME; mRNA.
DR CCDS; CCDS11757.2; -. [Q9UFH2-1]
DR PIR; T34558; T34558.
DR RefSeq; NP_775899.3; NM_173628.3. [Q9UFH2-1]
DR SMR; Q9UFH2; -.
DR IntAct; Q9UFH2; 5.
DR MINT; Q9UFH2; -.
DR STRING; 9606.ENSP00000374490; -.
DR iPTMnet; Q9UFH2; -.
DR PhosphoSitePlus; Q9UFH2; -.
DR BioMuta; DNAH17; -.
DR DMDM; 172044714; -.
DR EPD; Q9UFH2; -.
DR jPOST; Q9UFH2; -.
DR MassIVE; Q9UFH2; -.
DR MaxQB; Q9UFH2; -.
DR PaxDb; Q9UFH2; -.
DR PeptideAtlas; Q9UFH2; -.
DR PRIDE; Q9UFH2; -.
DR ProteomicsDB; 84185; -. [Q9UFH2-1]
DR ProteomicsDB; 84188; -. [Q9UFH2-4]
DR Antibodypedia; 19739; 17 antibodies from 12 providers.
DR DNASU; 8632; -.
DR Ensembl; ENST00000389840.7; ENSP00000374490.6; ENSG00000187775.17. [Q9UFH2-1]
DR GeneID; 8632; -.
DR KEGG; hsa:8632; -.
DR MANE-Select; ENST00000389840.7; ENSP00000374490.6; NM_173628.4; NP_775899.3.
DR UCSC; uc010dhp.2; human. [Q9UFH2-1]
DR CTD; 8632; -.
DR DisGeNET; 8632; -.
DR GeneCards; DNAH17; -.
DR HGNC; HGNC:2946; DNAH17.
DR HPA; ENSG00000187775; Group enriched (brain, retina, testis).
DR MalaCards; DNAH17; -.
DR MIM; 610063; gene.
DR MIM; 618643; phenotype.
DR neXtProt; NX_Q9UFH2; -.
DR OpenTargets; ENSG00000187775; -.
DR Orphanet; 276234; Non-syndromic male infertility due to sperm motility disorder.
DR VEuPathDB; HostDB:ENSG00000187775; -.
DR eggNOG; KOG3595; Eukaryota.
DR GeneTree; ENSGT00940000154076; -.
DR InParanoid; Q9UFH2; -.
DR OMA; CAYLALW; -.
DR PhylomeDB; Q9UFH2; -.
DR TreeFam; TF316836; -.
DR PathwayCommons; Q9UFH2; -.
DR SignaLink; Q9UFH2; -.
DR SIGNOR; Q9UFH2; -.
DR ChiTaRS; DNAH17; human.
DR Pharos; Q9UFH2; Tdark.
DR PRO; PR:Q9UFH2; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9UFH2; protein.
DR Bgee; ENSG00000187775; Expressed in C1 segment of cervical spinal cord and 111 other tissues.
DR ExpressionAtlas; Q9UFH2; baseline and differential.
DR Genevisible; Q9UFH2; HS.
DR GO; GO:0005858; C:axonemal dynein complex; NAS:UniProtKB.
DR GO; GO:0005930; C:axoneme; IDA:UniProtKB.
DR GO; GO:0030286; C:dynein complex; IBA:GO_Central.
DR GO; GO:0005874; C:microtubule; IEA:UniProtKB-KW.
DR GO; GO:0031514; C:motile cilium; IBA:GO_Central.
DR GO; GO:0036157; C:outer dynein arm; IDA:UniProtKB.
DR GO; GO:0036126; C:sperm flagellum; IDA:UniProtKB.
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:0003777; F:microtubule motor activity; NAS:UniProtKB.
DR GO; GO:0008569; F:minus-end-directed microtubule motor activity; IBA:GO_Central.
DR GO; GO:0003341; P:cilium movement; IBA:GO_Central.
DR GO; GO:0060285; P:cilium-dependent cell motility; NAS:UniProtKB.
DR GO; GO:0007018; P:microtubule-based movement; IBA:GO_Central.
DR GO; GO:0036158; P:outer dynein arm assembly; IDA:UniProtKB.
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; 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 SUPFAM; SSF52540; SSF52540; 4.
PE 1: Evidence at protein level;
KW Alternative splicing; ATP-binding; Cell projection; Cilium; Coiled coil;
KW Cytoplasm; Cytoskeleton; Disease variant; Dynein; Flagellum; Microtubule;
KW Motor protein; Nucleotide-binding; Reference proteome; Repeat; TPR repeat.
FT CHAIN 1..4462
FT /note="Dynein axonemal heavy chain 17"
FT /id="PRO_0000323749"
FT REPEAT 1019..1052
FT /note="TPR 1"
FT REPEAT 1702..1736
FT /note="TPR 2"
FT REPEAT 4147..4182
FT /note="TPR 3"
FT REGION 1..1808
FT /note="Stem"
FT /evidence="ECO:0000250"
FT REGION 1809..2030
FT /note="AAA 1"
FT /evidence="ECO:0000250"
FT REGION 2090..2311
FT /note="AAA 2"
FT /evidence="ECO:0000250"
FT REGION 2417..2665
FT /note="AAA 3"
FT /evidence="ECO:0000250"
FT REGION 2763..3012
FT /note="AAA 4"
FT /evidence="ECO:0000250"
FT REGION 3027..3313
FT /note="Stalk"
FT /evidence="ECO:0000250"
FT REGION 3405..3632
FT /note="AAA 5"
FT /evidence="ECO:0000250"
FT REGION 3842..4068
FT /note="AAA 6"
FT /evidence="ECO:0000250"
FT COILED 3027..3086
FT /evidence="ECO:0000255"
FT COILED 3257..3309
FT /evidence="ECO:0000255"
FT BINDING 1847..1854
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT BINDING 2128..2135
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT BINDING 2455..2462
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT BINDING 2801..2808
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..298
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_032109"
FT VAR_SEQ 845..864
FT /note="ENAELFRADTLSLPWKDYVI -> VRKHPGGFLRTHLLLAGRRE (in
FT isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_032110"
FT VAR_SEQ 865..4462
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_032111"
FT VARIANT 431..4462
FT /note="Missing (in SPGF39)"
FT /evidence="ECO:0000269|PubMed:31178125"
FT /id="VAR_083232"
FT VARIANT 492
FT /note="D -> N (in dbSNP:rs34868091)"
FT /id="VAR_039581"
FT VARIANT 792
FT /note="I -> V (in dbSNP:rs16971526)"
FT /id="VAR_062178"
FT VARIANT 963
FT /note="I -> T (in dbSNP:rs11651537)"
FT /id="VAR_062179"
FT VARIANT 1829
FT /note="C -> Y (in SPGF39; loss of the outer dynein arms in
FT sperm cells; dbSNP:rs1598595659)"
FT /evidence="ECO:0000269|PubMed:31178125"
FT /id="VAR_083233"
FT VARIANT 1972
FT /note="M -> V (in dbSNP:rs1462210081)"
FT /id="VAR_062180"
FT VARIANT 3496
FT /note="V -> VLDPV (in SPGF39; loss of the outer dynein arms
FT in sperm cells)"
FT /evidence="ECO:0000269|PubMed:31178125"
FT /id="VAR_083234"
FT VARIANT 3499
FT /note="P -> L (in SPGF39; when associated in cis with P-
FT 3595; not expressed in flagellum and loss of the outer
FT dynein arms in sperm cells when associated in cis with P-
FT 3595; dbSNP:rs1598474055)"
FT /evidence="ECO:0000269|PubMed:31178125"
FT /id="VAR_083235"
FT VARIANT 3595
FT /note="L -> P (in SPGF39; when associated in cis with L-
FT 3499; not expressed in flagellum and loss of the outer
FT dynein arms in sperm cells when associated in cis with L-
FT 3499; dbSNP:rs1418782829)"
FT /evidence="ECO:0000269|PubMed:31178125"
FT /id="VAR_083236"
FT CONFLICT 732
FT /note="K -> N (in Ref. 2; BAC05170)"
FT /evidence="ECO:0000305"
FT CONFLICT 779
FT /note="Q -> H (in Ref. 2; BAC05170)"
FT /evidence="ECO:0000305"
FT CONFLICT 1861..1863
FT /note="GRA -> DRP (in Ref. 4; CAB06053)"
FT /evidence="ECO:0000305"
FT CONFLICT 1910
FT /note="S -> Y (in Ref. 4; CAB06053)"
FT /evidence="ECO:0000305"
FT CONFLICT 1929
FT /note="A -> K (in Ref. 4; CAB06053)"
FT /evidence="ECO:0000305"
FT CONFLICT 1938..1940
FT /note="GLI -> SLV (in Ref. 4; CAB06053)"
FT /evidence="ECO:0000305"
FT CONFLICT 3478
FT /note="I -> T (in Ref. 6; CAA04165)"
FT /evidence="ECO:0000305"
FT CONFLICT 3496
FT /note="V -> A (in Ref. 6; CAA04165)"
FT /evidence="ECO:0000305"
FT CONFLICT 3615
FT /note="A -> T (in Ref. 6; CAA04165)"
FT /evidence="ECO:0000305"
FT CONFLICT 3953
FT /note="H -> R (in Ref. 5; CAB59252)"
FT /evidence="ECO:0000305"
FT CONFLICT 3958
FT /note="S -> R (in Ref. 6; CAA04165)"
FT /evidence="ECO:0000305"
FT CONFLICT 3967
FT /note="S -> R (in Ref. 6; CAA04165)"
FT /evidence="ECO:0000305"
FT CONFLICT 3999
FT /note="H -> Y (in Ref. 6; CAA04165)"
FT /evidence="ECO:0000305"
FT CONFLICT 4003
FT /note="H -> Y (in Ref. 6; CAA04165)"
FT /evidence="ECO:0000305"
FT CONFLICT 4331
FT /note="F -> L (in Ref. 6; CAA04165)"
FT /evidence="ECO:0000305"
FT CONFLICT 4414
FT /note="D -> A (in Ref. 6; CAA04165)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 4462 AA; 509313 MW; AEDDF56145E1F2A8 CRC64;
MTMAPDVRLE YLEEVASIVL KFKPDKWSKL IGAEENVALF TEFFEKPDVQ VLVLTLNAAG
MIIPCLGFPQ SLKSKGVYFI KTKSENINKD NYRARLLYGD ISPTPVDQLI AVVEEVLSSL
LNQSENMAGW PQVVSEDIVK QVHRLKNEMF VMSGKIKGKT LLPIPEHLGS LDGTLESMER
IPSSLDNLLL HAIETTIIDW SHQIRDVLSK DSAQALLDGL HPLPQVEFEF WDTRLLNLKC
IHEQLNRPKV NKIVEILEKA KSCYWPALQN VYTNVTEGLK EANDIVLYLK PLRILLEEME
QADFTMLPTF IAKVLDTICF IWATSEYYNT PARIIVILQE FCNQIIEMTR TFLSPEEVLK
GLQGEIEEVL SGISLAVNVL KELYQTYDFC CVNMKLFFKD KEPVPWEFPS SLAFSRINSF
FQRIQTIEEL YKTAIEFLKL EKIELGGVRG NLLGSLVTRI YDEVFELVKV FADCKYDPLD
PGDSNFDRDY ADFEIKIQDL DRRLATIFCQ GFDDCSCIKS SAKLLYMCGG LMERPLILAE
VAPRYSVMLE LFDAELDNAK ILYDAQMAAS EEGNIPLIHK NMPPVAGQLK WSLELQERLE
VSMKHLKHVE HPVMSGAEAK LTYQKYDEMM ELLRCHREKI YQQWVAGVDQ DCHFNLGQPL
ILRDAASNLI HVNFSKALVA VLREVKYLNF QQQKEIPDSA ESLFSENETF RKFVGNLELI
VGWYNEIKTI VKAVEFLLIK SELEAIDVKL LSAETTLFWN GEGVFQYIQE VREILHNLQN
RMQKAKQNIE GISQAMKDWS ANPLFERKDN KKEALLDLDG RIANLNKRYA AVRDAGVKIQ
AMVAENAELF RADTLSLPWK DYVIYIDDMV LDEFDQFIRK SLSFLMDNMV IDESIAPLFE
IRMELDEDGL TFNPTLEVGS DRGFLALIEG LVNDIYNVAR LIPRLAKDRM NYKMDLEDNT
DLIEMREEVS SLVINAMKEA EEYQDSFERY SYLWTDNLQE FMKNFLIYGC AVTAEDLDTW
TDDTIPKTPP TLAQFQEQID SYEKLYEEVS KCENTKVFHG WLQCDCRPFK QALLSTIRRW
GFMFKRHLSN HVTNSLADLE AFMKVARMGL TKPLKEGDYD GLVEVMGHLM KVKERQAATD
NMFEPLKQTI ELLKTYGEEM PEEIHLKLQE LPEHWANTKK LAIQVKLTVA PLQANEVSIL
RRKCQQFELK QHEFRERFRR EAPFSFSDPN PYKSLNKQQK SISAMEGIME ALSKSGGLFE
VPVPDYKQLK ACHREVRLLK ELWDMVVVVN TSIEDWKTTK WKDINVEQMD IDCKKFAKDM
RSLDKEMKTW DAFVGLDNTV KNVITSLRAV SELQNPAIRE RHWQQLMQAT QVKFKMSEET
TLADLLQLNL HSYEDEVRNI VDKAVKESGM EKVLKALDST WSMMEFQHEP HPRTGTMMLK
SSEVLVETLE DNQVQLQNLM MSKYLAHFLK EVTSWQQKLS TADSVISIWF EVQRTWSHLE
SIFIGSEDIR TQLPGDSQRF DDINQEFKAL MEDAVKTPNV VEATSKPGLY NKLEALKKSL
AICEKALAEY LETKRLAFPR FYFVSSADLL DILSNGNDPV EVSRHLSKLF DSLCKLKFRL
DASDKPLKVG LGMYSKEDEY MVFDQECDLS GQVEVWLNRV LDRMCSTLRH EIPEAVVTYE
EKPREQWILD YPAQVALTCT QIWWTTEVGL AFARLEEGYE NAIRDYNKKQ ISQLNVLITL
LMGNLNAGDR MKIMTICTID VHARDVVAKM IVAKVESSQA FTWQAQLRHR WDEEKRHCFA
NICDAQIQYS YEYLGNTPRL VITPLTDRCY ITLTQSLHLI MGGAPAGPAG TGKTETTKDL
GRALGTMVYV FNCSEQMDYK SCGNIYKGLA QTGAWGCFDE FNRISVEVLS VIAVQVKCVQ
DAIRAKKKAF NFLGEIIGLI PTVGIFITMN PGYAGRAELP ENLKALFRPC AMVVPDFELI
CEIMLMAEGF LEARLLARKF ITLYTLCKEL LSKQDHYDWG LRAIKSVLVV AGSLKRGDPS
RAEDQVLMRA LRDFNIPKIV TDDLPVFMGL IGDLFPALDV PRKRDLNFEK IIKQSIVELK
LQAEDSFVLK VVQLEELLQV RHSVFIVGNA GSGKSQVLKS LNKTYQNLKR KPVAVDLDPK
AVTCDELFGI INPVTREWKD GLFSTIMRDL ANITHDGPKW IILDGDIDPM WIESLNTVMD
DNKVLTLASN ERIPLNRTMR LVFEISHLRT ATPATVSRAG ILYINPADLG WNPVVSSWIE
RRKVQSEKAN LMILFDKYLP TCLDKLRFGF KKITPVPEIT VIQTILYLLE CLLTEKTVPP
DSPRELYELY FVFTCFWAFG GAMFQDQLVD YRVEFSKWWI NEFKTIKFPS QGTIFDYYID
PDTKKFLPWT DKVPSFELDP DVPLQASLVH TTETIRIRYF MDLLMEKSWP VMLVGNAGTG
KSVLMGDKLE SLNTDNYLVQ AVPFNFYTTS AMLQGVLEKP LEKKSGRNYG PPGTKKLVYF
IDDMNMPEVD KYGTVAPHTL IRQHMDHRHW YDRHKLTLKD IHNCQYVACM NPTSGSFTID
SRLQRHFCVF AVSFPGQEAL TTIYNTILTQ HLAFRSVSMA IQRISSQLVA AALALHQKIT
ATFLPTAIKF HYVFNLRDLS NIFQGLLFST AEVLKTPLDL VRLWLHETER VYGDKMVDEK
DQETLHRVTM ASTKKFFDDL GDELLFAKPN IFCHFAQGIG DPKYVPVTDM APLNKLLVDV
LDSYNEVNAV MNLVLFEDAV AHICRINRIL ESPRGNALLV GVGGSGKQSL SRLAAYISGL
DVFQITLKKG YGIPDLKIDL AAQYIKAAVK NVPSVFLMTD SQVAEEQFLV LINDLLASGE
IPGLFMEDEV ENIISSMRPQ VKSLGMNDTR ETCWKFFIEK VRRQLKVILC FSPVGSVLRV
RARKFPAVVN CTAIDWFHEW PEDALVSVSA RFLEETEGIP WEVKASISFF MSYVHTTVNE
MSRVYLATER RYNYTTPKTF LEQIKLYQNL LAKKRTELVA KIERLENGLM KLQSTASQVD
DLKAKLAIQE AELKQKNESA DQLIQVVGIE AEKVSKEKAI ADQEEVKVEV INKNVTEKQK
ACETDLAKAE PALLAAQEAL DTLNKNNLTE LKSFGSPPDA VVNVTAAVMI LTAPGGKIPK
DKSWKAAKIM MGKVDTFLDS LKKFDKEHIP EACLKAFKPY QGNPTFDPEF IRSKSTAAAG
LCSWCINIVR FYEVYCDVAP KRQALEEANA ELAEAQEKLS RIKNKIAELN ANLSNLTSAF
EKATAEKIKC QQEADATNRV ILLANRLVGG LASENIRWAE SVENFRSQGV TLCGDVLLIS
AFVSYVGYFT KKYRNELMEK FWIPYIHNLK VPIPITNGLD PLSLLTDDAD VATWNNQGLP
SDRMSTENAT ILGNTERWPL IVDAQLQGIK WIKNKYRSEL KAIRLGQKSY LDVIEQAISE
GDTLLIENIG ETVDPVLDPL LGRNTIKKGK YIKIGDKEVE YHPKFRLILH TKYFNPHYKP
EMQAQCTLIN FLVTRDGLED QLLAAVVAKE RPDLEQLKAN LTKSQNEFKI VLKELEDSLL
ARLSAASGNF LGDTALVENL ETTKHTASEI EEKVVEAKIT EVKINEAREN YRPAAERASL
LYFILNDLNK INPVYQFSLK AFNVVFEKAI QRTTPANEVK QRVINLTDEI TYSVYMYTAR
GLFERDKLIF LAQVTFQVLS MKKELNPVEL DFLLRFPFKA GVVSPVDFLQ HQGWGGIKAL
SEMDEFKNLD SDIEGSAKRW KKLVESEAPE KEIFPKEWKN KTALQKLCMV RCLRPDRMTY
AIKNFVEEKM GSKFVEGRSV EFSKSYEESS PSTSIFFILS PGVDPLKDVE ALGKKLGFTI
DNGKLHNVSL GQGQEVVAEN ALDVAAEKGH WVILQNIHLV ARWLGTLDKK LEHYSTGSHE
DYRVFISAEP APSPETHIIP QGILENAIKI TNEPPTGMHA NLHKALDLFT QDTLEMCTKE
MEFKCMLFAL CYFHAVVAER RKFGAQGWNR SYPFNNGDLT ISINVLYNYL EANPKVPWDD
LRYLFGEIMY GGHITDDWDR RLCRTYLAEY IRTEMLEGDV LLAPGFQIPP NLDYKGYHEY
IDENLPPESP YLYGLHPNAE IGFLTVTSEK LFRTVLEMQP KETDSGAGTG VSREEKVKAV
LDDILEKIPE TFNMAEIMAK AAEKTPYVVV AFQECERMNI LTNEMRRSLK ELNLGLKGEL
TITTDVEDLS TALFYDTVPD TWVARAYPSM MGLAAWYADL LLRIRELEAW TTDFALPTTV
WLAGFFNPQS FLTAIMQSMA RKNEWPLDKM CLSVEVTKKN REDMTAPPRE GSYVYGLFME
GARWDTQTGV IAEARLKELT PAMPVIFIKA IPVDRMETKN IYECPVYKTR IRGPTYVWTF
NLKTKEKAAK WILAAVALLL QV
