LOCUS       NP_113615                190 aa            linear   PRI 27-APR-2025
DEFINITION  dynein axonemal light chain 1 isoform 1 [Homo sapiens].
ACCESSION   NP_113615
VERSION     NP_113615.2
DBSOURCE    REFSEQ: accession NM_031427.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 190)
  AUTHORS   Poplawska,K., Griffiths,A., Temme,R., Adamko,D.J., Nykamp,K. and
            Shapiro,A.J.
  TITLE     Deletions in DNAL1 Cause Primary Ciliary Dyskinesia Across North
            American Indigenous Populations
  JOURNAL   J Pediatr 261, 113362 (2023)
   PUBMED   36841509
  REMARK    GeneRIF: Deletions in DNAL1 Cause Primary Ciliary Dyskinesia Across
            North American Indigenous Populations.
REFERENCE   2  (residues 1 to 190)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 190)
  AUTHORS   Cho,K.J., Noh,S.H., Han,S.M., Choi,W.I., Kim,H.Y., Yu,S., Lee,J.S.,
            Rim,J.H., Lee,M.G., Hildebrandt,F. and Gee,H.Y.
  TITLE     ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic
            pre-assembly of dynein arms
  JOURNAL   PLoS Genet 14 (3), e1007316 (2018)
   PUBMED   29601588
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 190)
  AUTHORS   Gallo,D.E. and Hope,T.J.
  TITLE     Knockdown of MAP4 and DNAL1 produces a post-fusion and pre-nuclear
            translocation impairment in HIV-1 replication
  JOURNAL   Virology 422 (1), 13-21 (2012)
   PUBMED   22018492
  REMARK    GeneRIF: DNAL1 and MAP4 may exert their functions in the HIV life
            cycle at reverse transcription, prior to nuclear translocation.
REFERENCE   5  (residues 1 to 190)
  AUTHORS   Mazor,M., Alkrinawi,S., Chalifa-Caspi,V., Manor,E., Sheffield,V.C.,
            Aviram,M. and Parvari,R.
  TITLE     Primary ciliary dyskinesia caused by homozygous mutation in DNAL1,
            encoding dynein light chain 1
  JOURNAL   Am J Hum Genet 88 (5), 599-607 (2011)
   PUBMED   21496787
  REMARK    GeneRIF: DNAL1 mutation could help to elucidate the interaction
            between the DNAL1 to dynein heavy chain and to tubulin.
REFERENCE   6  (residues 1 to 190)
  AUTHORS   Horvath,J., Fliegauf,M., Olbrich,H., Kispert,A., King,S.M.,
            Mitchison,H., Zariwala,M.A., Knowles,M.R., Sudbrak,R., Fekete,G.,
            Neesen,J., Reinhardt,R. and Omran,H.
  TITLE     Identification and analysis of axonemal dynein light chain 1 in
            primary ciliary dyskinesia patients
  JOURNAL   Am J Respir Cell Mol Biol 33 (1), 41-47 (2005)
   PUBMED   15845866
  REMARK    GeneRIF: identification of the human (DNAL1) ortholog of the
            Chlamydomonas LC1-gene; protein interaction studies demonstrated
            binding of DNAL1 and DNAH5; DNAL1 considered a candidate for
            primary ciliary dyskinesia
REFERENCE   7  (residues 1 to 190)
  AUTHORS   Zariwala,M.A., Knowles,M.R. and Leigh,M.W.
  TITLE     Primary Ciliary Dyskinesia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301301
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AI242197.1, AF542071.1,
            BJ996719.1, AC006146.2 and BQ267448.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jan 11, 2008 this sequence version replaced NP_113615.1.
            
            Summary: This gene encodes an axonemal dynein light chain which
            functions as a component of the outer dynein arms complex. This
            complex acts as the molecular motor that provides the force to move
            cilia in an ATP-dependent manner. The encoded protein is expressed
            in tissues with motile cilia or flagella and may be involved in the
            movement of sperm flagella. Alternate splicing results in multiple
            transcript variants.[provided by RefSeq, Jan 2011].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.663198.1,
                                           SRR3476690.1014941.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000553645.7/ ENSP00000452037.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..190
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     Protein         1..190
                     /product="dynein axonemal light chain 1 isoform 1"
                     /calculated_mol_wt=21402
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q4LDG9.1)"
     Region          37..181
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          49..70
                     /region_name="LRR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4LDG9.1)"
     Region          50..71
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Site            56
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q05A62; propagated from
                     UniProtKB/Swiss-Prot (Q4LDG9.1)"
     Region          71..92
                     /region_name="LRR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4LDG9.1)"
     Region          72..90
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          94..115
                     /region_name="LRR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4LDG9.1)"
     Region          95..116
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275382"
     Region          116..137
                     /region_name="LRR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4LDG9.1)"
     Region          117..140
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275382"
     Region          142..172
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275382"
     CDS             1..190
                     /gene="DNAL1"
                     /gene_synonym="C14orf168; CILD16; LC1"
                     /coded_by="NM_031427.4:55..627"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS45134.1"
                     /db_xref="GeneID:83544"
                     /db_xref="HGNC:HGNC:23247"
                     /db_xref="MIM:610062"
ORIGIN      
        1 makattikea larweektgq rpseakeikl yaqippiekm daslsmlanc eklslstnci
       61 ekianlnglk nlrilslgrn niknlnglea vgdtleelwi synfieklkg ihimkklkil
      121 ymsnnlvkdw aefvklaelp cledlvfvgn pleekhsaen nwieeatkrv pklkkldgtp
      181 vikgdeeedn
//
