DNAL1_HUMAN
ID DNAL1_HUMAN Reviewed; 190 AA.
AC Q4LDG9; B2RD38; Q5JPB7; Q9BS43;
DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 02-AUG-2005, sequence version 1.
DT 03-AUG-2022, entry version 141.
DE RecName: Full=Dynein axonemal light chain 1;
DE Short=LC1 {ECO:0000250|UniProtKB:Q9XHH2};
GN Name=DNAL1 {ECO:0000312|HGNC:HGNC:23247}; Synonyms=C14orf168;
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] (ISOFORM 1), INTERACTION WITH DNAH5, AND TISSUE
RP SPECIFICITY.
RX PubMed=15845866; DOI=10.1165/rcmb.2004-0335oc;
RA Horvath J., Fliegauf M., Olbrich H., Kispert A., King S.M., Mitchison H.,
RA Zariwala M.A., Knowles M.R., Sudbrak R., Fekete G., Neesen J.,
RA Reinhardt R., Omran H.;
RT "Identification and analysis of axonemal dynein light chain 1 in primary
RT ciliary dyskinesia patients.";
RL Am. J. Respir. Cell Mol. Biol. 33:41-47(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Hippocampus;
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 2).
RC TISSUE=Lymph node;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 [6]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [7]
RP INTERACTION WITH ZMYND10.
RX PubMed=29601588; DOI=10.1371/journal.pgen.1007316;
RA Cho K.J., Noh S.H., Han S.M., Choi W.I., Kim H.Y., Yu S., Lee J.S.,
RA Rim J.H., Lee M.G., Hildebrandt F., Gee H.Y.;
RT "ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-
RT assembly of dynein arms.";
RL PLoS Genet. 14:E1007316-E1007316(2018).
RN [8]
RP VARIANT CILD16 SER-150, SUBUNIT, INTERACTION WITH TUBULIN, INTERACTION WITH
RP DNAH5, CHARACTERIZATION OF VARIANT CILD16 SER-150, FUNCTION, AND
RP INVOLVEMENT IN CILD16.
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).
CC -!- FUNCTION: Part of the multisubunit axonemal ATPase complexes that
CC generate the force for cilia motility and govern beat frequency (By
CC similarity). Component of the outer arm dynein (ODA). May be involved
CC in a mechanosensory feedback mechanism controlling ODA activity based
CC on external conformational cues by tethering the outer arm dynein heavy
CC chain (DNAH5) to the microtubule within the axoneme (By similarity).
CC Important for ciliary function in the airways and for the function of
CC the cilia that produce the nodal flow essential for the determination
CC of the left-right asymmetry (PubMed:21496787).
CC {ECO:0000250|UniProtKB:Q9XHH2, ECO:0000303|PubMed:21496787}.
CC -!- SUBUNIT: Interacts with ZMYND10 (via C-terminus) (PubMed:29601588).
CC Interacts with DNAH5, a outer arm dynein heavy chain (PubMed:15845866,
CC PubMed:21496787). Interacts with tubulin located within the A-tubule of
CC the outer doublets in a ATP-independent manner (PubMed:21496787).
CC {ECO:0000269|PubMed:15845866, ECO:0000269|PubMed:21496787,
CC ECO:0000269|PubMed:29601588}.
CC -!- INTERACTION:
CC Q4LDG9; Q9H9A6: LRRC40; NbExp=3; IntAct=EBI-12843080, EBI-1043135;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q4LDG9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q4LDG9-2; Sequence=VSP_023982;
CC Name=3;
CC IsoId=Q4LDG9-3; Sequence=VSP_043590;
CC -!- TISSUE SPECIFICITY: Expressed in tissues carrying motile cilia such as
CC respiratory epithelia, ependyma and testis.
CC {ECO:0000269|PubMed:15845866}.
CC -!- DISEASE: Ciliary dyskinesia, primary, 16 (CILD16) [MIM:614017]: 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:21496787}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- MISCELLANEOUS: Outer (ODAs) and inner (IDAs) dynein arms contain the
CC molecular motors that generate the force to move cilia by ATP-dependent
CC reactions. There are two mechanosensory systems that monitor and
CC respond to the mechanical state (curvature) of the axoneme. One system
CC involves the central pair microtubule complex and radial spokes and the
CC second system involves the outer dynein arms.
CC {ECO:0000250|UniProtKB:Q9XHH2}.
CC -!- SIMILARITY: Belongs to the dynein light chain LC1-type family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH05343.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AF542071; AAQ11377.1; -; mRNA.
DR EMBL; AK315392; BAG37785.1; -; mRNA.
DR EMBL; AL833654; CAI46147.1; -; mRNA.
DR EMBL; AC005225; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC006146; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC005343; AAH05343.1; ALT_INIT; mRNA.
DR CCDS; CCDS45134.1; -. [Q4LDG9-1]
DR CCDS; CCDS55928.1; -. [Q4LDG9-3]
DR RefSeq; NP_001188295.1; NM_001201366.1. [Q4LDG9-3]
DR RefSeq; NP_113615.2; NM_031427.3. [Q4LDG9-1]
DR RefSeq; XP_016877168.1; XM_017021679.1. [Q4LDG9-3]
DR AlphaFoldDB; Q4LDG9; -.
DR SMR; Q4LDG9; -.
DR BioGRID; 123677; 7.
DR IntAct; Q4LDG9; 3.
DR STRING; 9606.ENSP00000452037; -.
DR iPTMnet; Q4LDG9; -.
DR PhosphoSitePlus; Q4LDG9; -.
DR BioMuta; DNAL1; -.
DR DMDM; 121944344; -.
DR EPD; Q4LDG9; -.
DR jPOST; Q4LDG9; -.
DR MassIVE; Q4LDG9; -.
DR MaxQB; Q4LDG9; -.
DR PaxDb; Q4LDG9; -.
DR PeptideAtlas; Q4LDG9; -.
DR PRIDE; Q4LDG9; -.
DR ProteomicsDB; 62233; -. [Q4LDG9-1]
DR ProteomicsDB; 62234; -. [Q4LDG9-2]
DR ProteomicsDB; 62235; -. [Q4LDG9-3]
DR Antibodypedia; 25408; 231 antibodies from 32 providers.
DR DNASU; 83544; -.
DR Ensembl; ENST00000311089.7; ENSP00000310360.3; ENSG00000119661.15. [Q4LDG9-2]
DR Ensembl; ENST00000553645.7; ENSP00000452037.1; ENSG00000119661.15. [Q4LDG9-1]
DR Ensembl; ENST00000554871.5; ENSP00000451834.1; ENSG00000119661.15. [Q4LDG9-3]
DR GeneID; 83544; -.
DR KEGG; hsa:83544; -.
DR MANE-Select; ENST00000553645.7; ENSP00000452037.1; NM_031427.4; NP_113615.2.
DR UCSC; uc001xoq.5; human. [Q4LDG9-1]
DR CTD; 83544; -.
DR DisGeNET; 83544; -.
DR GeneCards; DNAL1; -.
DR GeneReviews; DNAL1; -.
DR HGNC; HGNC:23247; DNAL1.
DR HPA; ENSG00000119661; Tissue enhanced (testis).
DR MalaCards; DNAL1; -.
DR MIM; 610062; gene.
DR MIM; 614017; phenotype.
DR neXtProt; NX_Q4LDG9; -.
DR OpenTargets; ENSG00000119661; -.
DR Orphanet; 244; Primary ciliary dyskinesia.
DR PharmGKB; PA162383938; -.
DR VEuPathDB; HostDB:ENSG00000119661; -.
DR eggNOG; KOG0531; Eukaryota.
DR GeneTree; ENSGT00390000016904; -.
DR HOGENOM; CLU_092189_0_0_1; -.
DR InParanoid; Q4LDG9; -.
DR OMA; LWISYNN; -.
DR OrthoDB; 1395642at2759; -.
DR PhylomeDB; Q4LDG9; -.
DR TreeFam; TF323974; -.
DR PathwayCommons; Q4LDG9; -.
DR SignaLink; Q4LDG9; -.
DR BioGRID-ORCS; 83544; 4 hits in 1068 CRISPR screens.
DR ChiTaRS; DNAL1; human.
DR GeneWiki; DNAL1; -.
DR GenomeRNAi; 83544; -.
DR Pharos; Q4LDG9; Tbio.
DR PRO; PR:Q4LDG9; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q4LDG9; protein.
DR Bgee; ENSG00000119661; Expressed in buccal mucosa cell and 162 other tissues.
DR ExpressionAtlas; Q4LDG9; baseline and differential.
DR Genevisible; Q4LDG9; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005874; C:microtubule; IEA:UniProtKB-KW.
DR GO; GO:0036157; C:outer dynein arm; ISS:UniProtKB.
DR GO; GO:0043014; F:alpha-tubulin binding; IMP:UniProtKB.
DR GO; GO:0045504; F:dynein heavy chain binding; IDA:UniProtKB.
DR GO; GO:0036158; P:outer dynein arm assembly; IMP:UniProtKB.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR032675; LRR_dom_sf.
DR PROSITE; PS51450; LRR; 4.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Cell projection; Ciliopathy; Cytoplasm;
KW Cytoskeleton; Disease variant; Dynein; Kartagener syndrome;
KW Leucine-rich repeat; Microtubule; Motor protein; Phosphoprotein;
KW Primary ciliary dyskinesia; Reference proteome; Repeat.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0007744|PubMed:22814378"
FT CHAIN 2..190
FT /note="Dynein axonemal light chain 1"
FT /id="PRO_0000281130"
FT REPEAT 49..70
FT /note="LRR 1"
FT REPEAT 71..92
FT /note="LRR 2"
FT REPEAT 94..115
FT /note="LRR 3"
FT REPEAT 116..137
FT /note="LRR 4"
FT DOMAIN 150..190
FT /note="LRRCT"
FT MOD_RES 2
FT /note="N-acetylalanine"
FT /evidence="ECO:0007744|PubMed:22814378"
FT MOD_RES 56
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q05A62"
FT VAR_SEQ 1..113
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_023982"
FT VAR_SEQ 1..39
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043590"
FT VARIANT 150
FT /note="N -> S (in CILD16; reduced tethering interaction
FT between DNAH5 and tubulin; dbSNP:rs387907021)"
FT /evidence="ECO:0000269|PubMed:21496787"
FT /id="VAR_065739"
SQ SEQUENCE 190 AA; 21533 MW; A48EA5047F6721EE CRC64;
MAKATTIKEA LARWEEKTGQ RPSEAKEIKL YAQIPPIEKM DASLSMLANC EKLSLSTNCI
EKIANLNGLK NLRILSLGRN NIKNLNGLEA VGDTLEELWI SYNFIEKLKG IHIMKKLKIL
YMSNNLVKDW AEFVKLAELP CLEDLVFVGN PLEEKHSAEN NWIEEATKRV PKLKKLDGTP
VIKGDEEEDN
