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2025-05-09 17:08:41, 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 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
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DBCLS
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