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2020-10-26 19:53:11, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_178452               2451 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.
ACCESSION   NM_178452
VERSION     NM_178452.4  GI:157674357
KEYWORDS    RefSeq.
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 2451)
  AUTHORS   Duquesnoy,P., Escudier,E., Vincensini,L., Freshour,J.,
            Bridoux,A.M., Coste,A., Deschildre,A., de Blic,J., Legendre,M.,
            Montantin,G., Tenreiro,H., Vojtek,A.M., Loussert,C., Clement,A.,
            Escalier,D., Bastin,P., Mitchell,D.R. and Amselem,S.
  TITLE     Loss-of-function mutations in the human ortholog of Chlamydomonas
            reinhardtii ODA7 disrupt dynein arm assembly and cause primary
            ciliary dyskinesia
  JOURNAL   Am. J. Hum. Genet. 85 (6), 890-896 (2009)
   PUBMED   19944405
  REMARK    GeneRIF: LRRC50, a member of the leucine-rich-repeat superfamily,
            has a key role in cytoplasmic preassembly of dynein arms
REFERENCE   2  (bases 1 to 2451)
  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
  REMARK    GeneRIF: LRRC50 plays a role in assembly of distinct dynein-arm
            complexes
REFERENCE   3  (bases 1 to 2451)
  AUTHORS   van Rooijen,E., Giles,R.H., Voest,E.E., van Rooijen,C.,
            Schulte-Merker,S. and van Eeden,F.J.
  TITLE     LRRC50, a conserved ciliary protein implicated in polycystic kidney
            disease
  JOURNAL   J. Am. Soc. Nephrol. 19 (6), 1128-1138 (2008)
   PUBMED   18385425
  REMARK    GeneRIF: It is proposed that LRRC50 to be a novel candidate gene
            for human cystic kidney disease, involved in regulation of
            microtubule-based cilia and actin-based brush border microvilli
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA349893.1, BC024009.2,
            AL833327.1 and BX648657.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 26, 2007 this sequence version replaced gi:40255219.
            
            Summary: The protein encoded by this gene is cilium-specific and is
            required for the stability of the ciliary architecture. It is
            involved in the regulation of microtubule-based cilia and
            actin-based brush border microvilli. Mutations in this gene are
            associated with primary ciliary dyskinesia-13.[provided by RefSeq,
            May 2010].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC024009.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084, ERS025085 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-62                DA349893.1         1-62
            63-1358             BC024009.2         6-1301
            1359-1815           AL833327.1         1330-1786
            1816-1974           BC024009.2         1759-1917
            1975-2395           BX648657.1         4247-4667
            2396-2451           BC024009.2         2339-2394
FEATURES             Location/Qualifiers
     source          1..2451
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.1"
     gene            1..2451
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /note="dynein, axonemal, assembly factor 1"
                     /db_xref="GeneID:123872"
                     /db_xref="HGNC:30539"
                     /db_xref="MIM:613190"
     exon            1..305
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    116..118
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /note="upstream in-frame stop codon"
     CDS             182..2359
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /note="leucine rich repeat containing 50; outer row dynein
                     assembly 7 homolog; leucine-rich repeat-containing protein
                     50"
                     /codon_start=1
                     /product="dynein assembly factor 1, axonemal"
                     /protein_id="NP_848547.4"
                     /db_xref="GI:157674358"
                     /db_xref="CCDS:CCDS10943.2"
                     /db_xref="GeneID:123872"
                     /db_xref="HGNC:30539"
                     /db_xref="MIM:613190"
                     /translation="
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPREDREDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQMNLLRKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSILESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDSIEALAMIKQRAEERKRQRESQERGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFEAKDELCPEKPSGEEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEPEGTLPAETLLLSPPVKVKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVATEGVFVTELDGTRTEDLETIRLETKETFCIDDLPDLEDDDETGKSLEDQNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPTDTLSNIFAVSKDTSKAARVPFTDIFKKEAKRDLEIRKQDTKSPRPLIQELSDEDPSGQLLMPPTCQRDAAPLTSSGDRDSDFLAASSPVPTESAATPPETCVGVAQPSQALPTWDLTAFPAPKAS
"
     misc_feature    500..568
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NEP3.5);
                     Region: LRR 1"
     misc_feature    <545..>952
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /note="Leucine-rich repeats (LRRs), ribonuclease inhibitor
                     (RI)-like subfamily. LRRs are 20-29 residue sequence
                     motifs present in many proteins that participate in
                     protein-protein interactions and have different functions
                     and cellular locations. LRRs correspond...; Region:
                     LRR_RI; cl15309"
                     /db_xref="CDD:199167"
     misc_feature    566..691
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /note="Leucine Rich repeats (2 copies); Region: LRR_4;
                     pfam12799"
                     /db_xref="CDD:205079"
     misc_feature    569..634
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NEP3.5);
                     Region: LRR 2"
     misc_feature    order(572..574,581..583,587..589,596..598,602..604,
                     638..640,647..649,653..655,662..664,668..670,704..706,
                     713..715,719..721,728..730,734..736,770..772,779..781,
                     785..787,794..796,800..802,845..847,854..856,860..862,
                     869..871,875..877,920..922,929..931,935..937,944..946,
                     950..952)
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /note="Leucine-rich repeats; other site"
                     /db_xref="CDD:29015"
     misc_feature    635..700
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NEP3.5);
                     Region: LRR 3"
     misc_feature    638..802
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /note="Leucine rich repeat; Region: LRR_8; pfam13855"
                     /db_xref="CDD:206026"
     misc_feature    701..766
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NEP3.5);
                     Region: LRR 4"
     misc_feature    767..832
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NEP3.5);
                     Region: LRR 5"
     misc_feature    770..949
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /note="Leucine rich repeat; Region: LRR_8; pfam13855"
                     /db_xref="CDD:206026"
     misc_feature    842..907
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NEP3.5);
                     Region: LRR 6"
     exon            306..441
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /inference="alignment:Splign:1.39.8"
     exon            442..533
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /inference="alignment:Splign:1.39.8"
     exon            534..755
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /inference="alignment:Splign:1.39.8"
     exon            756..922
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /inference="alignment:Splign:1.39.8"
     exon            923..1044
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /inference="alignment:Splign:1.39.8"
     exon            1045..1211
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /inference="alignment:Splign:1.39.8"
     exon            1212..1709
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /inference="alignment:Splign:1.39.8"
     exon            1710..1825
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /inference="alignment:Splign:1.39.8"
     exon            1826..1879
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /inference="alignment:Splign:1.39.8"
     exon            1880..2246
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /inference="alignment:Splign:1.39.8"
     exon            2247..2436
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /inference="alignment:Splign:1.39.8"
     STS             2277..2424
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /standard_name="RH69603"
                     /db_xref="UniSTS:75968"
     variation       complement(2395)
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:8692"
     variation       complement(2426)
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; LRRC50; ODA7"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:4150186"
ORIGIN      
agtgcgcgtgcgcagcggttgcctgggcgaccggggaagcgttgggctgtaaagactagggcgccagcggctggcgaagaaggaaagagggtactctctggctgggctggggccgtagcgacgtccgccgcgaacctgggccccccaaagctgcggggcgttcggtgtcgccgaagtaaacatgcaccctgagccctcggagcctgcgacaggtggtgcagcagagctggattgcgcgcaggagcccggcgtggaggagtctgcgggtgaccacgggagcgcaggccgagggggctgcaaggaagaaattaatgatcctaaggaaatatgtgtgggttcttctgacacatcctaccacagccagcagaaacagagtggtgataatgggtcaggtggtcacttcgcacacccaagagaagacagggaagatcggggccccagaatgactaaaagttccctgcaaaaactctgcaagcagcacaagctttatattaccccagcattgaatgatacgctgtatttacactttaaaggttttgatcgcattgagaacctggaagagtacacagggctgcgctgtctctggctgcagagcaatggaatacagaaaatcgaaaacctggaggcccaaactgagttgcgttgcctcttcttgcaaatgaacttgctccgtaaaattgagaacctggaacctctgcagaaactggatgctcttaacctcagcaacaattacatcaagaccattgaaaacctctcctgcctcccagtcctgaacacattgcagatggcccacaatcacctggagaccgtggaggacattcagcatctacaagagtgtttgaggctttgtgtccttgacctttcgcacaacaagctgagtgacccggagatcctgagcattctggaaagcatgcccgatttgcgtgtactgaatttgatgggaaacccggttatcagacagattcctaattacagaaggacagtcactgtacgactaaagcacttaacatacctggatgatagaccagtgtttccaaaggacagagcttgtgcggaggcctgggctaggggagggtacgcagctgaaaaggaggagagacagcagtgggagagcagggagcggaagaagatcacagacagcattgaagccttggccatgatcaagcagcgggcagaggagaggaaaagacagagagagagtcaagagagaggggagatgacatcttcagatgatggtgagaatgtgcccgccagtgcggaaggcaaggaggagcctcccggggacagagaaacaaggcagaagatggagctatttgttaaggaaagctttgaggccaaggacgagctctgcccggaaaagccaagtggagaggagccgcctgtggaggctaaaagagaggatggaggtccagagccagaggggaccctcccagctgagaccctgctactgtcgtcacctgtggaggttaaaggagaggacggagatggagagccagaggggaccctcccagctgaggccccaccacccccgccacctgtggaggttaaaggagaggatggagatcaagagccagaggggaccctcccagctgagaccctgctactgtcaccgcctgtgaaggttaaaggagaggatggagatcgagagccagaggggaccctcccagctgaggccccaccaccaccgcccctgggagctgccagggaagaaccgactccccaggctgtggccactgagggtgtattcgttacagaacttgatggaacgagaacggaagatttagaaaccattagactggagacaaaggagacattctgcattgatgacctacctgacttggaagatgatgatgaaacaggcaaatctctggaagaccagaatatgtgctttccgaagattgaggtcatctcgagcttgagtgatgacagtgaccctgaactggactacacgtcactccctgtgctggaaaacctccccacagacactctgtcaaatatatttgcagtctctaaagacacctcaaaggcggctcgggtgcccttcacagacatctttaaaaaagaagctaagagggacttggaaatccgaaaacaagacaccaagtccccaagacccctgatccaggagctcagcgacgaggacccctctggccagctactgatgccccccacctgccaaagagatgctgcaccactcacttccagtggagacagggacagcgacttccttgcagcctcttctccggtgccgactgagagcgccgccacacccccagagacgtgtgtcggagttgcccagcccagccaagctctgcccacgtgggacctcactgcattcccagcaccgaaagcatcatagttttccccagttatatgtagcataaatggtttaatcataaatgtctcccttaggcatgataaacattttaacacccaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:123872 -> Molecular function: GO:0045502 [dynein binding] evidence: IMP
            GeneID:123872 -> Biological process: GO:0001947 [heart looping] evidence: IMP
            GeneID:123872 -> Biological process: GO:0003341 [cilium movement] evidence: IMP
            GeneID:123872 -> Biological process: GO:0003356 [regulation of cilium beat frequency] evidence: IMP
            GeneID:123872 -> Biological process: GO:0030324 [lung development] evidence: IMP
            GeneID:123872 -> Biological process: GO:0035469 [determination of pancreatic left/right asymmetry] evidence: IMP
            GeneID:123872 -> Biological process: GO:0036158 [outer dynein arm assembly] evidence: IMP
            GeneID:123872 -> Biological process: GO:0036159 [inner dynein arm assembly] evidence: IMP
            GeneID:123872 -> Biological process: GO:0044458 [motile cilium assembly] evidence: IMP
            GeneID:123872 -> Biological process: GO:0060271 [cilium morphogenesis] evidence: IMP
            GeneID:123872 -> Biological process: GO:0060287 [epithelial cilium movement involved in determination of left/right asymmetry] evidence: IC
            GeneID:123872 -> Biological process: GO:0060972 [left/right pattern formation] evidence: IMP
            GeneID:123872 -> Biological process: GO:0070286 [axonemal dynein complex assembly] evidence: IMP
            GeneID:123872 -> Biological process: GO:0071907 [determination of digestive tract left/right asymmetry] evidence: IMP
            GeneID:123872 -> Biological process: GO:0071910 [determination of liver left/right asymmetry] evidence: IMP
            GeneID:123872 -> Cellular component: GO:0000922 [spindle pole] evidence: IEA
            GeneID:123872 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
            GeneID:123872 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
            GeneID:123872 -> Cellular component: GO:0005737 [cytoplasm] evidence: NAS
            GeneID:123872 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
            GeneID:123872 -> Cellular component: GO:0035085 [cilium axoneme] evidence: IDA

by @meso_cacase at DBCLS
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