LOCUS       NM_003462               2628 bp    mRNA    linear   PRI 13-MAY-2024
DEFINITION  Homo sapiens dynein axonemal light intermediate chain 1 (DNALI1),
            mRNA.
ACCESSION   NM_003462
VERSION     NM_003462.5
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  (bases 1 to 2628)
  AUTHORS   Ding,X., Cao,S., Wang,Q., Du,B., Lu,K., Qi,S., Cheng,Y., Tuo,Q.Z.,
            Liang,W. and Lei,P.
  TITLE     DNALI1 Promotes Neurodegeneration after Traumatic Brain Injury via
            Inhibition of Autophagosome-Lysosome Fusion
  JOURNAL   Adv Sci (Weinh) 11 (15), e2306399 (2024)
   PUBMED   38348540
  REMARK    GeneRIF: DNALI1 Promotes Neurodegeneration after Traumatic Brain
            Injury via Inhibition of Autophagosome-Lysosome Fusion.
REFERENCE   2  (bases 1 to 2628)
  AUTHORS   Wu,H., Liu,Y., Li,Y., Li,K., Xu,C., Gao,Y., Lv,M., Guo,R., Xu,Y.,
            Zhou,P., Wei,Z., Hua,R., He,X. and Cao,Y.
  TITLE     DNALI1 deficiency causes male infertility with severe
            asthenozoospermia in humans and mice by disrupting the assembly of
            the flagellar inner dynein arms and fibrous sheath
  JOURNAL   Cell Death Dis 14 (2), 127 (2023)
   PUBMED   36792588
  REMARK    GeneRIF: DNALI1 deficiency causes male infertility with severe
            asthenozoospermia in humans and mice by disrupting the assembly of
            the flagellar inner dynein arms and fibrous sheath.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2628)
  AUTHORS   Lu,Y., Chang,P., Bian,J. and Zhu,L.
  TITLE     DNALI1 is a prognosis-related biomarker and correlates with immune
            infiltrates in low grade glioma
  JOURNAL   Cancer Biomark 38 (3), 393-407 (2023)
   PUBMED   37955080
  REMARK    GeneRIF: DNALI1 is a prognosis-related biomarker and correlates
            with immune infiltrates in low grade glioma.
REFERENCE   4  (bases 1 to 2628)
  AUTHORS   Dougherty,G.W., Mizuno,K., Nothe-Menchen,T., Ikawa,Y., Boldt,K.,
            Ta-Shma,A., Aprea,I., Minegishi,K., Pang,Y.P., Pennekamp,P.,
            Loges,N.T., Raidt,J., Hjeij,R., Wallmeier,J., Mussaffi,H.,
            Perles,Z., Elpeleg,O., Rabert,F., Shiratori,H., Letteboer,S.J.,
            Horn,N., Young,S., Strunker,T., Stumme,F., Werner,C., Olbrich,H.,
            Takaoka,K., Ide,T., Twan,W.K., Biebach,L., Grosse-Onnebrink,J.,
            Klinkenbusch,J.A., Praveen,K., Bracht,D.C., Hoben,I.M., Junger,K.,
            Gutzlaff,J., Cindric,S., Aviram,M., Kaiser,T., Memari,Y.,
            Dzeja,P.P., Dworniczak,B., Ueffing,M., Roepman,R., Bartscherer,K.,
            Katsanis,N., Davis,E.E., Amirav,I., Hamada,H. and Omran,H.
  TITLE     CFAP45 deficiency causes situs abnormalities and asthenospermia by
            disrupting an axonemal adenine nucleotide homeostasis module
  JOURNAL   Nat Commun 11 (1), 5520 (2020)
   PUBMED   33139725
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2628)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 2628)
  AUTHORS   Loges,N.T., Olbrich,H., Becker-Heck,A., Haffner,K., Heer,A.,
            Reinhard,C., Schmidts,M., Kispert,A., Zariwala,M.A., Leigh,M.W.,
            Knowles,M.R., Zentgraf,H., Seithe,H., Nurnberg,G., Nurnberg,P.,
            Reinhardt,R. and Omran,H.
  TITLE     Deletions and point mutations of LRRC50 cause primary ciliary
            dyskinesia due to dynein arm defects
  JOURNAL   Am J Hum Genet 85 (6), 883-889 (2009)
   PUBMED   19944400
REFERENCE   7  (bases 1 to 2628)
  AUTHORS   Kaltenbach,L.S., Romero,E., Becklin,R.R., Chettier,R., Bell,R.,
            Phansalkar,A., Strand,A., Torcassi,C., Savage,J., Hurlburt,A.,
            Cha,G.H., Ukani,L., Chepanoske,C.L., Zhen,Y., Sahasrabudhe,S.,
            Olson,J., Kurschner,C., Ellerby,L.M., Peltier,J.M., Botas,J. and
            Hughes,R.E.
  TITLE     Huntingtin interacting proteins are genetic modifiers of
            neurodegeneration
  JOURNAL   PLoS Genet 3 (5), e82 (2007)
   PUBMED   17500595
REFERENCE   8  (bases 1 to 2628)
  AUTHORS   Combs,J., Kim,S.J., Tan,S., Ligon,L.A., Holzbaur,E.L., Kuhn,J. and
            Poenie,M.
  TITLE     Recruitment of dynein to the Jurkat immunological synapse
  JOURNAL   Proc Natl Acad Sci U S A 103 (40), 14883-14888 (2006)
   PUBMED   16990435
  REMARK    GeneRIF: ADAP coprecipitates with dynein from activated Jurkat
            cells, and loss of ADAP prevents microtubule-organizing center
            (MTOC) translocation and the specific recruitment of dynein to the
            synapse.
REFERENCE   9  (bases 1 to 2628)
  AUTHORS   Goehler,H., Lalowski,M., Stelzl,U., Waelter,S., Stroedicke,M.,
            Worm,U., Droege,A., Lindenberg,K.S., Knoblich,M., Haenig,C.,
            Herbst,M., Suopanki,J., Scherzinger,E., Abraham,C., Bauer,B.,
            Hasenbank,R., Fritzsche,A., Ludewig,A.H., Bussow,K., Coleman,S.H.,
            Gutekunst,C.A., Landwehrmeyer,B.G., Lehrach,H. and Wanker,E.E.
  TITLE     A protein interaction network links GIT1, an enhancer of huntingtin
            aggregation, to Huntington's disease
  JOURNAL   Mol Cell 15 (6), 853-865 (2004)
   PUBMED   15383276
  REMARK    Erratum:[Mol Cell. 2005 Jul 22;19(2):287. Buessow, Konrad
            [corrected to Bussow, Konrad]]
REFERENCE   10 (bases 1 to 2628)
  AUTHORS   Kastury,K., Taylor,W.E., Shen,R., Arver,S., Gutierrez,M.,
            Fisher,C.E., Coucke,P.J., Van Hauwe,P., Van Camp,G. and Bhasin,S.
  TITLE     Complementary deoxyribonucleic acid cloning and characterization of
            a putative human axonemal dynein light chain gene
  JOURNAL   J Clin Endocrinol Metab 82 (9), 3047-3053 (1997)
   PUBMED   9284741
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX647913.1, BC046117.1 and BC039074.1.
            
            On May 17, 2019 this sequence version replaced NM_003462.4.
            
            Summary: This gene is the human homolog of the Chlamydomonas inner
            dynein arm gene, p28. The precise function of this gene is not
            known, however, it is a potential candidate for immotile cilia
            syndrome (ICS). Ultrastructural defects of the inner dynein arms
            are seen in patients with ICS. Immotile mutant strains of
            Chlamydomonas, a biflagellated algae, exhibit similar defects.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.59161.1,
                                           SRR1803615.42670.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000652629.1/ ENSP00000498620.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-214               BX647913.1         22-235
            215-1208            BC046117.1         186-1179
            1209-2620           BC039074.1         1213-2624
            2621-2628           BC046117.1         2591-2598
FEATURES             Location/Qualifiers
     source          1..2628
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     gene            1..2628
                     /gene="DNALI1"
                     /gene_synonym="dJ423B22.5; hp28; P28; SPGF83"
                     /note="dynein axonemal light intermediate chain 1"
                     /db_xref="GeneID:7802"
                     /db_xref="HGNC:HGNC:14353"
                     /db_xref="MIM:602135"
     exon            1..136
                     /gene="DNALI1"
                     /gene_synonym="dJ423B22.5; hp28; P28; SPGF83"
                     /inference="alignment:Splign:2.1.0"
     CDS             56..832
                     /gene="DNALI1"
                     /gene_synonym="dJ423B22.5; hp28; P28; SPGF83"
                     /note="dynein, axonemal, light intermediate polypeptide 1;
                     inner dynein arm, homolog of clamydomonas; dJ423B22.5
                     (axonemal dynein light chain (hp28)); inner dynein arm
                     light chain, axonemal; inner dynein arm, homolog of
                     chlamydomonas"
                     /codon_start=1
                     /product="axonemal dynein light intermediate polypeptide
                     1"
                     /protein_id="NP_003453.3"
                     /db_xref="CCDS:CCDS420.2"
                     /db_xref="GeneID:7802"
                     /db_xref="HGNC:HGNC:14353"
                     /db_xref="MIM:602135"
                     /translation="MIPPADSLLKYDTPVLVSRNTEKRSPKARLLKVSPQQPGPSGSA
                     PQPPKTKLPSTPCVPDPTKQAEEILNAILPPREWVEDTQLWIQQVSSTPSTRMDVVHL
                     QEQLDLKLQQRQARETGICPVRRELYSQCFDELIREVTINCAERGLLLLRVRDEIRMT
                     IAAYQTLYESSVAFGMRKALQAEQGKSDMERKIAELETEKRDLERQVNEQKAKCEATE
                     KRESERRQVEEKKHNEEIQFLKRTNQQLKAQLEGIIAPKK"
     exon            137..282
                     /gene="DNALI1"
                     /gene_synonym="dJ423B22.5; hp28; P28; SPGF83"
                     /inference="alignment:Splign:2.1.0"
     exon            283..452
                     /gene="DNALI1"
                     /gene_synonym="dJ423B22.5; hp28; P28; SPGF83"
                     /inference="alignment:Splign:2.1.0"
     exon            453..631
                     /gene="DNALI1"
                     /gene_synonym="dJ423B22.5; hp28; P28; SPGF83"
                     /inference="alignment:Splign:2.1.0"
     exon            632..796
                     /gene="DNALI1"
                     /gene_synonym="dJ423B22.5; hp28; P28; SPGF83"
                     /inference="alignment:Splign:2.1.0"
     exon            797..2628
                     /gene="DNALI1"
                     /gene_synonym="dJ423B22.5; hp28; P28; SPGF83"
                     /inference="alignment:Splign:2.1.0"
     regulatory      899..904
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNALI1"
                     /gene_synonym="dJ423B22.5; hp28; P28; SPGF83"
                     /note="hexamer: AATAAA"
     polyA_site      931
                     /gene="DNALI1"
                     /gene_synonym="dJ423B22.5; hp28; P28; SPGF83"
                     /note="major polyA site"
     regulatory      2607..2612
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNALI1"
                     /gene_synonym="dJ423B22.5; hp28; P28; SPGF83"
                     /note="hexamer: AATAAA"
     polyA_site      2628
                     /gene="DNALI1"
                     /gene_synonym="dJ423B22.5; hp28; P28; SPGF83"
                     /note="major polyA site"
ORIGIN      
        1 aaacaaggcc cacactggac agggcagctg ctgggttgct actctcgcct ccgccatgat
       61 tccgcccgca gactctttgc tcaagtacga caccccagtg ctggtgagcc ggaacacgga
      121 gaaacggagc cccaaggctc ggctactgaa agtcagcccc cagcagcctg gaccttcagg
      181 ttcagcccca cagccaccca agaccaagct cccctcaact ccctgtgtcc cagatcctac
      241 aaagcaggca gaagaaatct tgaatgccat actaccccca agggagtggg tggaagacac
      301 gcagctatgg atccagcagg tgtccagcac ccctagcacc aggatggacg tggtgcacct
      361 ccaggagcag ttagacttaa agctgcagca gcggcaggcc agggaaacag gcatctgccc
      421 tgtccgcagg gaactctact cacagtgttt tgatgagttg atccgggagg tcaccatcaa
      481 ctgtgcggag agggggctgc tgctgctgcg agtccgggac gagatccgca tgaccatcgc
      541 tgcctaccag accctgtacg agagcagcgt ggcgtttggc atgaggaagg cactgcaggc
      601 tgagcagggg aagtcagaca tggagaggaa aatcgcagaa ttggagacgg aaaagagaga
      661 cctggagagg caagtgaacg agcagaaggc aaaatgtgaa gccactgaga agcgggagag
      721 cgagaggcgg caggtggagg agaagaagca caatgaggag attcagttcc tgaagcgaac
      781 aaatcagcag ctgaaggccc aactggaagg cattattgca ccaaagaagt gataatttcc
      841 acatgattaa tttccaacaa gacacttggg agttatttac tgtgttcctc tggcagccaa
      901 taaaatcatc ataagccctt tgtaataaaa agctagtttc ctgagtgaac aagccataac
      961 ctcccctaaa caccacctag gtatttgtta gaagtcacac tattactcca atgtcatcag
     1021 acacctaagg tctgccagcc aggctcctgg ctgggcaatg gaagatggtg tggccctgtt
     1081 agtctccgtg tgtggcttac tagccagcct tgggaactgc caactcaaat tctaagaaag
     1141 ccactgcttt ctcatcatca ctctatacca atacttattt ctggccaaat gaatctgctt
     1201 ctctgcccct caaactttta gttcacaatt catcttctac cttaacttgg gcttcttggg
     1261 cctctggcct tccttactta atgtcttctt ttccctactc taatgcattt ctaactcact
     1321 ttggagcttt ggttttctaa tgtattatcc ccacttgcca gtcaactgga ccccttcctc
     1381 ctcggtttca gactgcctac attaggaaac aatggcagtc aaacccatgg ctttggagaa
     1441 agtaaatgtt tgccagaaag gaatactagt cacagtggcc tttgtgagtt gtctgcaact
     1501 cagctcttcc cccagcacag atctgttccc cttatcctgc agaaaatcaa gccctgactc
     1561 tgcactcccc gaagtagtga tgttaattaa caactgaaga ggtaactaaa tctcacatgc
     1621 aggtctaatg actaataatt ggagtacggc tgctagacaa ctgcatttta gtatttctct
     1681 tccattctcc tggttttgta gacccagaag attgaatgag tgacataaat ctttagttcg
     1741 gggcaagcca gggtgggcta gggtggtaag ctggaggact tcatccttca gttaggctgc
     1801 acaagtaaca ttacctaaaa ggcactaaca tgctcaggtt ccccagaaag aggcgtaaga
     1861 agggcctctc cttagcagag cttccacctg ccatccgtct tgggttcagt gagcttcaag
     1921 gctcacaatg gaagcactgt catttcccca gaaaagctgt gttccctatg ctgaacacac
     1981 catacacatt ctcatctgga atctaaggag cagcttttac cctgatccag tatcctgagg
     2041 aattttaagc ctccactcaa atgacctgcc tgtgttgtca tttccatggg aaagaactct
     2101 ttccacgaga tctgctagtt ccaggcctct aagacaggaa cgtatgtgcc ataagtgggt
     2161 ctacttcaca gactcaatga ggcagaaatt attgtagttt tctcctattt cttctgcacc
     2221 caactttctc cttgtatttc aaaggccagg ccatgtacac taacgtcctt gaaatttgca
     2281 gttctgtatg cttctattcc aaatcattca ttaccaataa aaacgaaata ccaccctttc
     2341 cattttatag acctcatccc ctatttctgt cagacagtta tatgacaggg tgactgtgga
     2401 acctcttagt tcatccaaag tctacctgaa gtgctagact ttcagactct tatcactgaa
     2461 atccttaagg ttgaggaggc tttatttccc tagcactggt gaagggcttc aactgtcaaa
     2521 cctcagaaca aatgcattag ggccttagaa atgtcaatgg ggcaggaaga aaacacaatt
     2581 tctaactgcc tgtttttgta taatttaata aaaacctttt aaacatta
//
