DYH1_HUMAN
ID DYH1_HUMAN Reviewed; 4265 AA.
AC Q9P2D7; B0I1R6; O00436; O15435; O95491; Q6ZU48; Q86YK7; Q8TEJ4; Q92863;
AC Q9H8E6; Q9UFW6; Q9Y4Z7;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 29-SEP-2021, sequence version 6.
DT 03-AUG-2022, entry version 156.
DE RecName: Full=Dynein axonemal heavy chain 1 {ECO:0000305};
DE AltName: Full=Axonemal beta dynein heavy chain 1;
DE AltName: Full=Ciliary dynein heavy chain 1;
DE AltName: Full=Heat shock regulated protein 1;
DE Short=HSRF-1;
DE AltName: Full=hDHC7;
GN Name=DNAH1 {ECO:0000312|HGNC:HGNC:2940}; Synonyms=DHC7, DNAHC1, KIAA1410;
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 MRNA] (ISOFORM 4).
RC TISSUE=Brain;
RX PubMed=10718198; DOI=10.1093/dnares/7.1.65;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVI. The
RT complete sequences of 150 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:65-73(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 3095-4265 (ISOFORM 7), AND NUCLEOTIDE SEQUENCE [LARGE
RP SCALE MRNA] OF 3244-4265 (ISOFORM 4).
RC TISSUE=Placenta, and 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] (ISOFORM 6).
RC TISSUE=Brain;
RA Yamakawa H., Kikuno R.F., Nagase T., Ohara O.;
RT "Multiplex amplification and cloning of 5'-ends of cDNA by ligase-free
RT recombination: preparation of full-length cDNA clones encoding motor
RT proteins.";
RL Submitted (JAN-2007) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1543-1685 (ISOFORMS 4/6/7), NUCLEOTIDE
RP SEQUENCE [GENOMIC DNA] OF 1588-1670 (ISOFORMS 4/6/7), AND TISSUE
RP SPECIFICITY.
RC TISSUE=Nasal polyp;
RX PubMed=11175280; DOI=10.1038/sj.ejhg.5200555;
RA Maiti A.K., Mattei M.-G., Jorissen M., Volz A., Zeigler A., Bouvagnet P.;
RT "Identification, tissue specific expression, and chromosomal localisation
RT of several human dynein heavy chain genes.";
RL Eur. J. Hum. Genet. 8:923-932(2000).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1582-1636 (ISOFORMS 4/6/7).
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 [7]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1592-1686 (ISOFORMS 4/6/7).
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 [8]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1594-1682 (ISOFORMS 4/6/7), AND TISSUE
RP SPECIFICITY.
RX PubMed=9256245; DOI=10.1016/s0014-5793(97)00800-4;
RA Chapelin C., Duriez B., Magnino F., Goossens M., Escudier E., Amselem S.;
RT "Isolation of several human axonemal dynein heavy chain genes: genomic
RT structure of the catalytic site, phylogenetic analysis and chromosomal
RT assignment.";
RL FEBS Lett. 412:325-330(1997).
RN [9]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 2298-4265 (ISOFORM 6).
RA Liu Y., Xiao X., Zhang H., Yuan C.;
RT "Molecular cloning of heat shock regulated-1 (XLHSRF-1).";
RL Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases.
RN [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3675-4265 (ISOFORM 4).
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 [11]
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN SPGF18,
RP AND VARIANT SPGF18 ASN-1293.
RX PubMed=24360805; DOI=10.1016/j.ajhg.2013.11.017;
RA Ben Khelifa M., Coutton C., Zouari R., Karaouzene T., Rendu J., Bidart M.,
RA Yassine S., Pierre V., Delaroche J., Hennebicq S., Grunwald D.,
RA Escalier D., Pernet-Gallay K., Jouk P.S., Thierry-Mieg N., Toure A.,
RA Arnoult C., Ray P.F.;
RT "Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to
RT male infertility from multiple morphological abnormalities of the sperm
RT flagella.";
RL Am. J. Hum. Genet. 94:95-104(2014).
RN [12]
RP INVOLVEMENT IN CILD37, AND VARIANT CILD37 GLN-1154.
RX PubMed=25927852; DOI=10.1186/s12881-015-0162-5;
RA Imtiaz F., Allam R., Ramzan K., Al-Sayed M.;
RT "Variation in DNAH1 may contribute to primary ciliary dyskinesia.";
RL BMC Med. Genet. 16:14-14(2015).
RN [13]
RP INVOLVEMENT IN SPGF18, AND VARIANT SPGF18 GLY-1287.
RX PubMed=27798045; DOI=10.1093/humrep/dew262;
RA Amiri-Yekta A., Coutton C., Kherraf Z.E., Karaouzene T., Le Tanno P.,
RA Sanati M.H., Sabbaghian M., Almadani N., Sadighi Gilani M.A.,
RA Hosseini S.H., Bahrami S., Daneshipour A., Bini M., Arnoult C., Colombo R.,
RA Gourabi H., Ray P.F.;
RT "Whole-exome sequencing of familial cases of multiple morphological
RT abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.";
RL Hum. Reprod. 31:2872-2880(2016).
RN [14]
RP VARIANTS SPGF18 870-TRP--TYR-4265 DEL; 1036-TRP--TYR-4265 DEL; MET-1372;
RP 1702-ARG--TYR-4265 DEL; 1955-TRP--TYR-4265 DEL; ARG-2071; MET-2150;
RP 2466-ARG--TYR-4265 DEL; 2622-ARG--TYR-4265 DEL; CYS-3229;
RP 3738-TRP--SER-4065 DEL; LEU-4096; CYS-4133 AND THR-4174.
RX PubMed=28552195; DOI=10.1016/j.ajhg.2017.04.012;
RA Tang S., Wang X., Li W., Yang X., Li Z., Liu W., Li C., Zhu Z., Wang L.,
RA Wang J., Zhang L., Sun X., Zhi E., Wang H., Li H., Jin L., Luo Y., Wang J.,
RA Yang S., Zhang F.;
RT "Biallelic mutations in CFAP43 and CFAP44 cause male infertility with
RT multiple morphological abnormalities of the sperm flagella.";
RL Am. J. Hum. Genet. 100:854-864(2017).
RN [15]
RP VARIANT SPGF18 1582-PRO--GLY-1584 DEL.
RX PubMed=29449551; DOI=10.1038/s41467-017-02792-7;
RA Coutton C., Vargas A.S., Amiri-Yekta A., Kherraf Z.E., Ben Mustapha S.F.,
RA Le Tanno P., Wambergue-Legrand C., Karaouzene T., Martinez G., Crouzy S.,
RA Daneshipour A., Hosseini S.H., Mitchell V., Halouani L., Marrakchi O.,
RA Makni M., Latrous H., Kharouf M., Deleuze J.F., Boland A., Hennebicq S.,
RA Satre V., Jouk P.S., Thierry-Mieg N., Conne B., Dacheux D., Landrein N.,
RA Schmitt A., Stouvenel L., Lores P., El Khouri E., Bottari S.P., Faure J.,
RA Wolf J.P., Pernet-Gallay K., Escoffier J., Gourabi H., Robinson D.R.,
RA Nef S., Dulioust E., Zouari R., Bonhivers M., Toure A., Arnoult C.,
RA Ray P.F.;
RT "Mutations in CFAP43 and CFAP44 cause male infertility and flagellum
RT defects in Trypanosoma and human.";
RL Nat. Commun. 9:686-686(2018).
CC -!- FUNCTION: Force generating protein of cilia required for sperm
CC flagellum motility. 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. Required in spermatozoa
CC for the formation of the inner dynein arms and biogenesis of the
CC axoneme (PubMed:24360805). {ECO:0000250|UniProtKB:Q91XQ0,
CC ECO:0000269|PubMed:24360805}.
CC -!- SUBUNIT: Consists of at least two heavy chains and a number of
CC intermediate and light chains. {ECO:0000250|UniProtKB:Q8TE73}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000269|PubMed:24360805}. Cell projection, cilium, flagellum
CC {ECO:0000250|UniProtKB:E9Q8T7}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=4;
CC IsoId=Q9P2D7-4; Sequence=Displayed;
CC Name=3;
CC IsoId=Q9P2D7-3; Sequence=VSP_031305, VSP_031306;
CC Name=6;
CC IsoId=Q9P2D7-6; Sequence=VSP_059797, VSP_059798;
CC Name=7;
CC IsoId=Q9P2D7-8; Sequence=VSP_059799, VSP_059800;
CC -!- TISSUE SPECIFICITY: Expressed primarily in trachea and testis, 2
CC tissues containing axonemal structures. Also expressed in brain
CC (PubMed:11175280). {ECO:0000269|PubMed:11175280,
CC ECO:0000269|PubMed:24360805, ECO:0000269|PubMed:9256245}.
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 18 (SPGF18) [MIM:617576]: An infertility
CC disorder caused by spermatogenesis defects and characterized by
CC abnormally shaped spermatozoa in the semen of affected individuals.
CC SPGF18 patients present with primary infertility and multiple
CC morphological abnormalities of sperm flagella that result in impaired
CC sperm mobility. Abnormalities include absent, short, coiled, bent, and
CC irregular flagella. SPGF18 inheritance is autosomal recessive.
CC {ECO:0000269|PubMed:24360805, ECO:0000269|PubMed:27798045,
CC ECO:0000269|PubMed:28552195, ECO:0000269|PubMed:29449551}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Ciliary dyskinesia, primary, 37 (CILD37) [MIM:617577]: A form
CC of primary ciliary dyskinesia, a disorder characterized by
CC abnormalities of motile cilia. Respiratory infections leading to
CC chronic inflammation and bronchiectasis are recurrent, due to defects
CC in the respiratory cilia. Some patients exhibit randomization of left-
CC right body asymmetry and situs inversus. Primary ciliary dyskinesia
CC associated with situs inversus is referred to as Kartagener syndrome.
CC CILD37 inheritance is autosomal recessive.
CC {ECO:0000269|PubMed:25927852}. 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=AAO43053.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAA92648.3; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB14671.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB14671.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAB84956.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAG06717.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=CAB06058.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAB06058.1; Type=Frameshift; Evidence={ECO:0000305};
CC -!- SEQUENCE CAUTION: [Isoform 6]:
CC Sequence=BAG06717.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AB037831; BAA92648.3; ALT_INIT; mRNA.
DR EMBL; AK023766; BAB14671.1; ALT_SEQ; mRNA.
DR EMBL; AK074130; BAB84956.2; ALT_INIT; mRNA.
DR EMBL; AK125990; BAC86379.1; -; mRNA.
DR EMBL; AB290163; BAG06717.1; ALT_FRAME; mRNA.
DR EMBL; AC092045; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF459588; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AJ132083; CAA10556.1; -; mRNA.
DR EMBL; AJ132094; CAB46445.1; -; Genomic_DNA.
DR EMBL; U61738; AAC50702.1; -; mRNA.
DR EMBL; Z83804; CAB06058.1; ALT_SEQ; mRNA.
DR EMBL; U83571; AAB82761.1; -; Genomic_DNA.
DR EMBL; AY221994; AAO43053.1; ALT_FRAME; mRNA.
DR EMBL; AL117428; CAB55917.1; -; mRNA.
DR CCDS; CCDS46842.1; -. [Q9P2D7-4]
DR PIR; T17227; T17227.
DR RefSeq; NP_056327.4; NM_015512.4. [Q9P2D7-4]
DR RefSeq; XP_016861619.1; XM_017006130.1. [Q9P2D7-4]
DR SMR; Q9P2D7; -.
DR BioGRID; 117465; 9.
DR IntAct; Q9P2D7; 6.
DR MINT; Q9P2D7; -.
DR STRING; 9606.ENSP00000401514; -.
DR GlyGen; Q9P2D7; 2 sites, 2 O-linked glycans (2 sites).
DR iPTMnet; Q9P2D7; -.
DR PhosphoSitePlus; Q9P2D7; -.
DR SwissPalm; Q9P2D7; -.
DR BioMuta; DNAH1; -.
DR DMDM; 327478598; -.
DR EPD; Q9P2D7; -.
DR jPOST; Q9P2D7; -.
DR MassIVE; Q9P2D7; -.
DR PaxDb; Q9P2D7; -.
DR PeptideAtlas; Q9P2D7; -.
DR PRIDE; Q9P2D7; -.
DR ProteomicsDB; 83784; -. [Q9P2D7-3]
DR ProteomicsDB; 83785; -. [Q9P2D7-4]
DR Antibodypedia; 48327; 53 antibodies from 13 providers.
DR DNASU; 25981; -.
DR Ensembl; ENST00000420323.7; ENSP00000401514.2; ENSG00000114841.18. [Q9P2D7-4]
DR GeneID; 25981; -.
DR KEGG; hsa:25981; -.
DR MANE-Select; ENST00000420323.7; ENSP00000401514.2; NM_015512.5; NP_056327.4.
DR UCSC; uc011bef.3; human. [Q9P2D7-4]
DR CTD; 25981; -.
DR DisGeNET; 25981; -.
DR GeneCards; DNAH1; -.
DR GeneReviews; DNAH1; -.
DR HGNC; HGNC:2940; DNAH1.
DR HPA; ENSG00000114841; Low tissue specificity.
DR MalaCards; DNAH1; -.
DR MIM; 603332; gene.
DR MIM; 617576; phenotype.
DR MIM; 617577; phenotype.
DR neXtProt; NX_Q9P2D7; -.
DR OpenTargets; ENSG00000114841; -.
DR Orphanet; 276234; Non-syndromic male infertility due to sperm motility disorder.
DR Orphanet; 244; Primary ciliary dyskinesia.
DR PharmGKB; PA27394; -.
DR VEuPathDB; HostDB:ENSG00000114841; -.
DR eggNOG; KOG3595; Eukaryota.
DR GeneTree; ENSGT00940000154791; -.
DR HOGENOM; CLU_000038_0_0_1; -.
DR InParanoid; Q9P2D7; -.
DR OrthoDB; 3185at2759; -.
DR PhylomeDB; Q9P2D7; -.
DR TreeFam; TF316836; -.
DR PathwayCommons; Q9P2D7; -.
DR SignaLink; Q9P2D7; -.
DR BioGRID-ORCS; 25981; 11 hits in 1071 CRISPR screens.
DR ChiTaRS; DNAH1; human.
DR GenomeRNAi; 25981; -.
DR Pharos; Q9P2D7; Tbio.
DR PRO; PR:Q9P2D7; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q9P2D7; protein.
DR Bgee; ENSG00000114841; Expressed in right uterine tube and 113 other tissues.
DR ExpressionAtlas; Q9P2D7; baseline and differential.
DR Genevisible; Q9P2D7; HS.
DR GO; GO:0005858; C:axonemal dynein complex; NAS:UniProtKB.
DR GO; GO:0005930; C:axoneme; IMP:UniProtKB.
DR GO; GO:0030286; C:dynein complex; IBA:GO_Central.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0036156; C:inner dynein arm; IDA:SYSCILIA_CCNET.
DR GO; GO:0005874; C:microtubule; IEA:UniProtKB-KW.
DR GO; GO:0036126; C:sperm flagellum; 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: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:0003351; P:epithelial cilium movement involved in extracellular fluid movement; IEA:Ensembl.
DR GO; GO:0030317; P:flagellated sperm motility; IMP:UniProtKB.
DR GO; GO:0036159; P:inner dynein arm assembly; IDA:SYSCILIA_CCNET.
DR GO; GO:0007018; P:microtubule-based movement; IBA:GO_Central.
DR GO; GO:0007288; P:sperm axoneme assembly; IMP: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; 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; IPR042228; Dynein_linker_3.
DR InterPro; IPR027417; P-loop_NTPase.
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; 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; Ciliopathy; Cilium;
KW Coiled coil; Cytoplasm; Cytoskeleton; Disease variant; Dynein; Flagellum;
KW Kartagener syndrome; Microtubule; Motor protein; Nucleotide-binding;
KW Primary ciliary dyskinesia; Reference proteome.
FT CHAIN 1..4265
FT /note="Dynein axonemal heavy chain 1"
FT /id="PRO_0000318936"
FT REGION 1..1542
FT /note="Stem"
FT /evidence="ECO:0000250"
FT REGION 1..88
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1543..1764
FT /note="AAA 1"
FT /evidence="ECO:0000250"
FT REGION 1824..2057
FT /note="AAA 2"
FT /evidence="ECO:0000250"
FT REGION 2189..2449
FT /note="AAA 3"
FT /evidence="ECO:0000250"
FT REGION 2547..2799
FT /note="AAA 4"
FT /evidence="ECO:0000250"
FT REGION 2814..3112
FT /note="Stalk"
FT /evidence="ECO:0000250"
FT REGION 3197..3427
FT /note="AAA 5"
FT /evidence="ECO:0000250"
FT REGION 3640..3859
FT /note="AAA 6"
FT /evidence="ECO:0000250"
FT COILED 3074..3122
FT /evidence="ECO:0000255"
FT MOTIF 1581..1588
FT /note="GPAGTGKT motif"
FT MOTIF 1631..1637
FT /note="CFDEFNR motif"
FT COMPBIAS 1..23
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 56..72
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 1581..1588
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT BINDING 1862..1869
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT BINDING 2227..2234
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT BINDING 2586..2593
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1161..1205
FT /note="ALDKMEKEWSTILFNVLPYKATDTYILKSPDEASQLLDDHIVMTQ -> VGS
FT HQRAQPLQPGPAGQPDLLLWQPQPLGRMTVISPIPGVMRPRG (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_031305"
FT VAR_SEQ 1206..4265
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_031306"
FT VAR_SEQ 3122..3165
FT /note="LINGLSDEKVRWQETVENLQYMLNNISGDVLVAAGFVAYLGPFT -> VRTL
FT LLQGLQAGPAQTGARKDQGAGGSWGGCPHPLPGNPRCHSG (in isoform 6)"
FT /id="VSP_059797"
FT VAR_SEQ 3166..4265
FT /note="Missing (in isoform 6)"
FT /id="VSP_059798"
FT VAR_SEQ 4149..4196
FT /note="MFEAPSELTQRPQVGCYIHGLFLEGARWDPEAFQLAESQPKELYTEMA ->
FT PAGIQRPSSWLSLSPRSCTQRWPLSGSCQHPTARPRTRTFTCAPSTRH (in
FT isoform 7)"
FT /id="VSP_059799"
FT VAR_SEQ 4197..4265
FT /note="Missing (in isoform 7)"
FT /id="VSP_059800"
FT VARIANT 205
FT /note="E -> D (in dbSNP:rs10460963)"
FT /id="VAR_038912"
FT VARIANT 441
FT /note="V -> L (in dbSNP:rs13060192)"
FT /id="VAR_038913"
FT VARIANT 870..4265
FT /note="Missing (in SPGF18)"
FT /evidence="ECO:0000269|PubMed:28552195"
FT /id="VAR_080888"
FT VARIANT 1036..4265
FT /note="Missing (in SPGF18)"
FT /evidence="ECO:0000269|PubMed:28552195"
FT /id="VAR_080889"
FT VARIANT 1154
FT /note="K -> Q (in CILD37; dbSNP:rs544674332)"
FT /evidence="ECO:0000269|PubMed:25927852"
FT /id="VAR_079510"
FT VARIANT 1287
FT /note="V -> G (in SPGF18; dbSNP:rs1131692251)"
FT /evidence="ECO:0000269|PubMed:27798045"
FT /id="VAR_079511"
FT VARIANT 1293
FT /note="D -> N (in SPGF18; dbSNP:rs140883175)"
FT /evidence="ECO:0000269|PubMed:24360805"
FT /id="VAR_079512"
FT VARIANT 1372
FT /note="T -> M (in SPGF18; unknown pathological
FT significance; dbSNP:rs374644342)"
FT /evidence="ECO:0000269|PubMed:28552195"
FT /id="VAR_080890"
FT VARIANT 1502
FT /note="V -> M (in dbSNP:rs17052095)"
FT /id="VAR_038914"
FT VARIANT 1582..1584
FT /note="Missing (in SPGF18; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:29449551"
FT /id="VAR_080891"
FT VARIANT 1663
FT /note="R -> C (in dbSNP:rs17052097)"
FT /id="VAR_038915"
FT VARIANT 1702..4265
FT /note="Missing (in SPGF18)"
FT /evidence="ECO:0000269|PubMed:28552195"
FT /id="VAR_080892"
FT VARIANT 1955..4265
FT /note="Missing (in SPGF18)"
FT /evidence="ECO:0000269|PubMed:28552195"
FT /id="VAR_080893"
FT VARIANT 2071
FT /note="L -> R (in SPGF18; unknown pathological
FT significance; dbSNP:rs757396103)"
FT /evidence="ECO:0000269|PubMed:28552195"
FT /id="VAR_080894"
FT VARIANT 2150
FT /note="V -> M (in SPGF18; unknown pathological
FT significance; dbSNP:rs778635747)"
FT /evidence="ECO:0000269|PubMed:28552195"
FT /id="VAR_080895"
FT VARIANT 2384
FT /note="N -> S (in dbSNP:rs56002041)"
FT /id="VAR_062176"
FT VARIANT 2466..4265
FT /note="Missing (in SPGF18)"
FT /evidence="ECO:0000269|PubMed:28552195"
FT /id="VAR_080896"
FT VARIANT 2622..4265
FT /note="Missing (in SPGF18)"
FT /evidence="ECO:0000269|PubMed:28552195"
FT /id="VAR_080897"
FT VARIANT 3229
FT /note="R -> C (in SPGF18; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:28552195"
FT /id="VAR_080898"
FT VARIANT 3738..4065
FT /note="Missing (in SPGF18)"
FT /evidence="ECO:0000269|PubMed:28552195"
FT /id="VAR_080899"
FT VARIANT 3832
FT /note="R -> H (in dbSNP:rs365048)"
FT /id="VAR_064924"
FT VARIANT 4096
FT /note="R -> L (in SPGF18; unknown pathological
FT significance; dbSNP:rs748247721)"
FT /evidence="ECO:0000269|PubMed:28552195"
FT /id="VAR_080900"
FT VARIANT 4133
FT /note="R -> C (in SPGF18; unknown pathological
FT significance; dbSNP:rs776800142)"
FT /evidence="ECO:0000269|PubMed:28552195"
FT /id="VAR_080901"
FT VARIANT 4174
FT /note="A -> T (in SPGF18; unknown pathological
FT significance; dbSNP:rs765046623)"
FT /evidence="ECO:0000269|PubMed:28552195"
FT /id="VAR_080902"
FT CONFLICT 1545
FT /note="Y -> F (in Ref. 5; CAA10556)"
FT /evidence="ECO:0000305"
FT CONFLICT 1610
FT /note="Q -> L (in Ref. 7; CAB06058)"
FT /evidence="ECO:0000305"
FT CONFLICT 1630
FT /note="A -> G (in Ref. 6; AAC50702)"
FT /evidence="ECO:0000305"
FT CONFLICT 1647
FT /note="A -> S (in Ref. 8; AAB82761)"
FT /evidence="ECO:0000305"
FT CONFLICT 1677
FT /note="C -> Y (in Ref. 7; CAB06058)"
FT /evidence="ECO:0000305"
FT CONFLICT 1681
FT /note="I -> T (in Ref. 8; AAB82761)"
FT /evidence="ECO:0000305"
FT CONFLICT 3259
FT /note="S -> G (in Ref. 2; BAB14671)"
FT /evidence="ECO:0000305"
FT CONFLICT 3304
FT /note="N -> S (in Ref. 2; BAB14671)"
FT /evidence="ECO:0000305"
FT CONFLICT 3486
FT /note="A -> V (in Ref. 2; BAB14671)"
FT /evidence="ECO:0000305"
FT CONFLICT 3489
FT /note="E -> V (in Ref. 2; BAB14671)"
FT /evidence="ECO:0000305"
FT CONFLICT 3610
FT /note="P -> L (in Ref. 2; BAB14671)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 4265 AA; 487498 MW; 43D6B138A5DAA487 CRC64;
MEQPNSKGYS LGRTPQGPEC SSAPAVQVGT HRGLEYNPGK ILPGSDYGLG NPPALDPKLP
HLPLPPAPPT LSDLGQPRKS PLTGTDKKYP LMKQRGFYSD ILSPGTLDQL GEVCRGPRMS
QNLLRQADLD KFTPRVGSFE VPEDFQERME QQCIGSTTRL LAQTDFPLQA YEPKMQVPFQ
VLPGQHPRKI EIERRKQQYL SLDIEQLLFS QGIDSNKLMP RHLDHQHPQT IEQGHDPIFP
IYLPLKVFDN EDFDCRTPRE WINMGLEPGS LDRKPVPGKA LLPTDDFLGH EDPKSQKLKY
KWCEVGVLDY DEEKKLYLVH KTDEKGLVRD EMGRPILNAG VTTEGRPPLQ VCQYWVPRIQ
LLFCAEDPCM FAQRVVQANA LRKNTEALLL YNLYVDCMPS DGQHVISEQS LSKIKQWALS
TPRMRKGPSV LEHLSSLARE VSLDYERSMN KINFDHVVSS KPETFSYVTL PKKEEEQVPE
RGLVSVPKYH FWEQKEDFTF VSLLTRPEVI TALSKVRAEC NKVTAMSLFH SSLSKYSHLE
EFEQIQSQTF SQVQMFLKDS WISSLKVAMR SSLRDMSKGW YNLYETNWEV YLMSKLRKLM
ELVKYMLQDT LRFLVQDSLA SFSQFISDTC CSVLNCTDDM VWGDDLINSP YRPRKNPLFI
MDLVLDSSGV HYSTPLEQFE ASLLNLFDKG ILATHAVPQL EKLVMEDIFI SGDPLLESVG
LHEPLVEELR ATIASAVSKA MIPLQAYAKE YRKYLELNNN DIASFLKTYQ TQGLLAQEVR
EVVLTHLREK EILDSSLPSS IIIGPFYINT DNVKQSLSKK RKALATSVLD ILAKNLHKEV
DSICEEFRSI SRKIYEKPNS IEELAELREW MKGIPERLVG LEERIVKVMD DYQVMDEFLY
NLSSDDFNDK WIASNWPSKI LGQIELVQQQ HVEDEEKFRK IQIMDQNNFQ EKLEGLQLVV
AGFSIHVEIS RAHEIANEVR RVKKQLKDCQ QLAMLYNNRE RIFSLPITNY DKLSRMVKEF
QPYLDLWTTA SDWLRWSESW MNDPLSAIDA EQLEKNVVEA FKTMHKCVKQ FKDMPACQEV
ALDIRARIEE FKPYIPLIQG LRNPGMRIRH WETLSNQINI NVRPKANLTF ARCLEMNLQD
HIESISKVAE VAGKEYAIEQ ALDKMEKEWS TILFNVLPYK ATDTYILKSP DEASQLLDDH
IVMTQNMSFS PYKKPFEQRI NSWENKLKLT QEVLEEWLNC QRSWLYLEPI FSSEDINQQL
PVESKRYQTM ERIWKKIMKN AYENREVINV CSDLRMLDSL RDCNKILDLV QKGLSEYLET
KRSAFPRFYF LSDDELLEIL SQTKDPTAVQ PHLRKCFENI ARLLFQEDLE ITHMYSAEGE
EVQLCFSIYP SSNVEDWLRE VERSMKASVH DIIEKAIRAY PTMPRTQWVL NWPGQVTIAG
CQTYWTMEVA EALEAGNLRS QLFPQLCQQL SDLVALVRGK LSRMQRAVLS ALIVIEVHAK
DVVSKLIQEN VVSVNDFQWI SQLRYYWTNN DLYIRAVNAE FIYGYEYLGN SGRLVITPLT
DRCYLTLTGA LHLKFGGAPA GPAGTGKTET TKDLGKALAI QTVVFNCSDQ LDFMAMGKFF
KGLASAGAWA CFDEFNRIDI EVLSVVAQQI TTIQKAQQQR VERFMFEGVE IPLVPSCAVF
ITMNPGYAGR TELPDNLKAL FRPVAMMVPD YAMITEISLY SFGFNEASVL AKKITTTFKL
SSEQLSSQDH YDFGMRAVKT VISAAGNLKR ENPSMNEELI CLRAIRDVNV PKFLQEDLKL
FSGIVSDLFP TIKEEDTDYG ILDEAIREAC RNSNLKDVEG FLTKCIQLYE TTVVRHGLML
VGPTGSGKST CYRVLAAAMT SLKGQPSISG GMYEAVNYYV LNPKSITMGQ LYGEFDLLTH
EWTDGIFSSF IRAGAITSDT NKKWYMFDGP VDAIWIENMN TVLDDNKKLC LSSGEIIKLT
EAMTMMFEVQ DLAVASPATV SRCGMVYLEP SILGLMPFIE CWLRKLPPLL KPYEEHFKAL
FVSFLEESIS FVRSSVKEVI ASTNCNLTMS LLKLLDCFFK PFLPREGLKK IPSEKLSRIV
ELIEPWFIFS LIWSVGATGD SSGRTSFSHW LRLKMENEQL TLLFPEEGLV FDYRLEDAGI
SGTNDSEDEE EEYKQVAWVK WMDSSAPFTM VPDTNYCNII VPTMDTVQMS HLLDMLLTNK
KPVLCIGPTG TGKTLTISDK LLKNLALDYI SHFLTFSART SANQTQDFID SKLDKRRKGV
FGPPLGRNFI FFIDDLNMPA LETYGAQPPI ELLRQWMDHG GWYDRKIIGA FKNLVDINFV
CAMGPPGGGR NTVTPRLMRH FNYLSFAEMD EVSKKRIFST ILGNWLDGLL GEKSYRERVP
GAPHIAHFTE PLVEATIMVY ATITSQLLPT PAKSHYTFNL RDLSKVFQGM LMADPAKVED
QVQLLRLWYH ENCRVFRDRL VNEEDRSWFD QLLKRCMEQW EVTFNKVCPF QPILYGDFMS
PGSDVKSYEL ITSESKMMQV IEEYIEDYNQ INTAKLKLVL FMDAMSHICR ISRTLRQALG
NALLLGVGGS GRSSLTRLAS HMAEYECFQI ELSKNYGMSE WRDDVKKVLL KAGLQNLPIT
FLFSDTQIKN ESFLEDINNV LNSGDIPNLY TADEQDQIVS TMRPYIQEQG LQPTKANLMA
AYTGRVRSNI HMVLCMSPIG EVFRARLRQF PSLVNCCTID WFNEWPAEAL KSVATVFLNE
IPELESSQEE IQGLIQVCVY IHQSVSKKCI EYLAELTRHN YVTPKSYLEL LHIFSILIGQ
KKLELKTAKN RMKSGLDKLL RTSEDVAKMQ EDLESMHPLL EEAAKDTMLT MEQIKVDTAI
AEETRNSVQT EEIKANEKAK KAQAIADDAQ KDLDEALPAL DAALASLRNL NKNDVTEVRA
MQRPPPGVKL VIEAVCIMKG IKPKKVPGEK PGTKVDDYWE PGKGLLQDPG HFLESLFKFD
KDNIGDVVIK AIQPYIDNEE FQPATIAKVS KACTSICQWV RAMHKYHFVA KAVEPKRQAL
LEAQDDLGVT QRILDEAKQR LREVEDGIAT MQAKYRECIT KKEELELKCE QCEQRLGRAG
KLINGLSDEK VRWQETVENL QYMLNNISGD VLVAAGFVAY LGPFTGQYRT VLYDSWVKQL
RSHNVPHTSE PTLIGTLGNP VKIRSWQIAG LPNDTLSVEN GVINQFSQRW THFIDPQSQA
NKWIKNMEKD NGLDVFKLSD RDFLRSMENA IRFGKPCLLE NVGEELDPAL EPVLLKQTYK
QQGNTVLKLG DTVIPYHEDF RMYITTKLPN PHYTPEISTK LTLINFTLSP SGLEDQLLGQ
VVAEERPDLE EAKNQLIISN AKMRQELKDI EDQILYRLSS SEGNPVDDME LIKVLEASKM
KAAEIQAKVR IAEQTEKDID LTRMEYIPVA IRTQILFFCV SDLANVDPMY QYSLEWFLNI
FLSGIANSER ADNLKKRISN INRYLTYSLY SNVCRSLFEK HKLMFAFLLC VRIMMNEGKI
NQSEWRYLLS GGSISIMTEN PAPDWLSDRA WRDILALSNL PTFSSFSSDF VKHLSEFRVI
FDSLEPHREP LPGIWDQYLD QFQKLLVLRC LRGDKVTNAM QDFVATNLEP RFIEPQTANL
SVVFKDSNST TPLIFVLSPG TDPAADLYKF AEEMKFSKKL SAISLGQGQG PRAEAMMRSS
IERGKWVFFQ NCHLAPSWMP ALERLIEHIN PDKVHRDFRL WLTSLPSNKF PVSILQNGSK
MTIEPPRGVR ANLLKSYSSL GEDFLNSCHK VMEFKSLLLS LCLFHGNALE RRKFGPLGFN
IPYEFTDGDL RICISQLKMF LDEYDDIPYK VLKYTAGEIN YGGRVTDDWD RRCIMNILED
FYNPDVLSPE HSYSASGIYH QIPPTYDLHG YLSYIKSLPL NDMPEIFGLH DNANITFAQN
ETFALLGTII QLQPKSSSAG SQGREEIVED VTQNILLKVP EPINLQWVMA KYPVLYEESM
NTVLVQEVIR YNRLLQVITQ TLQDLLKALK GLVVMSSQLE LMAASLYNNT VPELWSAKAY
PSLKPLSSWV MDLLQRLDFL QAWIQDGIPA VFWISGFFFP QAFLTGTLQN FARKFVISID
TISFDFKVMF EAPSELTQRP QVGCYIHGLF LEGARWDPEA FQLAESQPKE LYTEMAVIWL
LPTPNRKAQD QDFYLCPIYK TLTRAGTLST TGHSTNYVIA VEIPTHQPQR HWIKRGVALI
CALDY
