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2024-04-26 17:10:39, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_080677 1522 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens dynein, light chain, LC8-type 2 (DYNLL2), mRNA.
ACCESSION NM_080677
VERSION NM_080677.2 GI:222144279
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 1522)
AUTHORS Radnai,L., Rapali,P., Hodi,Z., Suveges,D., Molnar,T., Kiss,B.,
Becsi,B., Erdodi,F., Buday,L., Kardos,J., Kovacs,M. and Nyitray,L.
TITLE Affinity, avidity, and kinetics of target sequence binding to LC8
dynein light chain isoforms
JOURNAL J. Biol. Chem. 285 (49), 38649-38657 (2010)
PUBMED 20889982
REMARK GeneRIF: the thermodynamic and kinetic fine-tuning of binding of
various ligands to DYNLL could have physiological relevance in its
interaction network.
REFERENCE 2 (bases 1 to 1522)
AUTHORS Pfister,K.K., Fisher,E.M., Gibbons,I.R., Hays,T.S., Holzbaur,E.L.,
McIntosh,J.R., Porter,M.E., Schroer,T.A., Vaughan,K.T.,
Witman,G.B., King,S.M. and Vallee,R.B.
TITLE Cytoplasmic dynein nomenclature
JOURNAL J. Cell Biol. 171 (3), 411-413 (2005)
PUBMED 16260502
REFERENCE 3 (bases 1 to 1522)
AUTHORS Day,C.L., Puthalakath,H., Skea,G., Strasser,A., Barsukov,I.,
Lian,L.Y., Huang,D.C. and Hinds,M.G.
TITLE Localization of dynein light chains 1 and 2 and their pro-apoptotic
ligands
JOURNAL Biochem. J. 377 (PT 3), 597-605 (2004)
PUBMED 14561217
REFERENCE 4 (bases 1 to 1522)
AUTHORS Lei,K. and Davis,R.J.
TITLE JNK phosphorylation of Bim-related members of the Bcl2 family
induces Bax-dependent apoptosis
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 100 (5), 2432-2437 (2003)
PUBMED 12591950
REFERENCE 5 (bases 1 to 1522)
AUTHORS Fuhrmann,J.C., Kins,S., Rostaing,P., El Far,O., Kirsch,J.,
Sheng,M., Triller,A., Betz,H. and Kneussel,M.
TITLE Gephyrin interacts with Dynein light chains 1 and 2, components of
motor protein complexes
JOURNAL J. Neurosci. 22 (13), 5393-5402 (2002)
PUBMED 12097491
REFERENCE 6 (bases 1 to 1522)
AUTHORS Puthalakath,H., Villunger,A., O'Reilly,L.A., Beaumont,J.G.,
Coultas,L., Cheney,R.E., Huang,D.C. and Strasser,A.
TITLE Bmf: a proapoptotic BH3-only protein regulated by interaction with
the myosin V actin motor complex, activated by anoikis
JOURNAL Science 293 (5536), 1829-1832 (2001)
PUBMED 11546872
REMARK Erratum:[Science 2002 Aug 16;297(5584):1122]
REFERENCE 7 (bases 1 to 1522)
AUTHORS Naisbitt,S., Valtschanoff,J., Allison,D.W., Sala,C., Kim,E.,
Craig,A.M., Weinberg,R.J. and Sheng,M.
TITLE Interaction of the postsynaptic density-95/guanylate kinase
domain-associated protein complex with a light chain of myosin-V
and dynein
JOURNAL J. Neurosci. 20 (12), 4524-4534 (2000)
PUBMED 10844022
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DA140058.1, BF528423.1, BC010744.1, DB022843.1 and CN280282.1.
On Jan 30, 2009 this sequence version replaced gi:18087854.
##Evidence-Data-START##
Transcript exon combination :: DA140058.1, DA735929.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-56 DA140058.1 1-56
57-63 BF528423.1 47-53
64-715 BC010744.1 53-704
716-1235 DB022843.1 2-521
1236-1522 CN280282.1 61-347
FEATURES Location/Qualifiers
source 1..1522
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17q22"
gene 1..1522
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/note="dynein, light chain, LC8-type 2"
/db_xref="GeneID:140735"
/db_xref="HGNC:24596"
/db_xref="HPRD:06489"
/db_xref="MIM:608942"
exon 1..265
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/inference="alignment:Splign:1.39.8"
variation 41..44
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace=""
/replace="gcgg"
/db_xref="dbSNP:376668096"
variation 60..61
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace=""
/replace="gcgg"
/db_xref="dbSNP:60600936"
variation 61..62
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace=""
/replace="gcgg"
/db_xref="dbSNP:71909578"
variation 63
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="c"
/replace="t"
/db_xref="dbSNP:2533003"
variation 254
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="g"
/replace="t"
/db_xref="dbSNP:376962847"
exon 266..406
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/inference="alignment:Splign:1.39.8"
variation 266
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="c"
/replace="t"
/db_xref="dbSNP:113262702"
CDS 275..544
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/note="radial spoke 22 homolog; DLC8b; 8 kDa dynein light
chain b"
/codon_start=1
/product="dynein light chain 2, cytoplasmic"
/protein_id="NP_542408.1"
/db_xref="GI:18087855"
/db_xref="CCDS:CCDS11601.1"
/db_xref="GeneID:140735"
/db_xref="HGNC:24596"
/db_xref="HPRD:06489"
/db_xref="MIM:608942"
/translation="
MSDRKAVIKNADMSEDMQQDAVDCATQAMEKYNIEKDIAAYIKKEFDKKYNPTWHCIVGRNFGSYVTHETKHFIYFYLGQVAILLFKSG
"
misc_feature 275..541
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/note="dynein light chain; Provisional; Region: PTZ00059"
/db_xref="CDD:185421"
misc_feature 395..397
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/inference="non-experimental evidence, no additional
details recorded"
/note="Interaction with myosin V motor complex (By
similarity); propagated from UniProtKB/Swiss-Prot
(Q96FJ2.1); other site"
variation 304
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="c"
/replace="t"
/db_xref="dbSNP:148293426"
variation 364
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="c"
/replace="g"
/db_xref="dbSNP:141400019"
variation 372
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="a"
/replace="g"
/db_xref="dbSNP:377336906"
variation 373
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="c"
/replace="t"
/db_xref="dbSNP:369166404"
exon 407..1522
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/inference="alignment:Splign:1.39.8"
variation 478
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="c"
/replace="t"
/db_xref="dbSNP:146307541"
variation 484
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="a"
/replace="g"
/db_xref="dbSNP:139580700"
variation 550
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="c"
/replace="t"
/db_xref="dbSNP:377760636"
variation 551
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="a"
/replace="g"
/db_xref="dbSNP:200481800"
variation 564
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="c"
/replace="t"
/db_xref="dbSNP:374144805"
variation 568
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="a"
/replace="g"
/db_xref="dbSNP:368513542"
variation 582
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="c"
/replace="t"
/db_xref="dbSNP:371611185"
variation 586
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="a"
/replace="g"
/db_xref="dbSNP:369484056"
variation 623
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="c"
/replace="t"
/db_xref="dbSNP:372037785"
variation 677
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="a"
/replace="g"
/db_xref="dbSNP:372402569"
variation 713
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="a"
/replace="c"
/db_xref="dbSNP:145820835"
variation 733
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="a"
/replace="g"
/db_xref="dbSNP:187859298"
variation 754
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="a"
/replace="g"
/db_xref="dbSNP:190895072"
variation 908
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="c"
/replace="t"
/db_xref="dbSNP:376105178"
variation 913
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="a"
/replace="c"
/db_xref="dbSNP:138574553"
variation 955
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="c"
/replace="t"
/db_xref="dbSNP:74470907"
variation 1037
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="a"
/replace="g"
/db_xref="dbSNP:150717233"
variation 1225
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="c"
/replace="t"
/db_xref="dbSNP:115524146"
variation 1263
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="c"
/replace="t"
/db_xref="dbSNP:114946955"
variation 1285
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="a"
/replace="g"
/db_xref="dbSNP:113399075"
variation 1422
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="g"
/replace="t"
/db_xref="dbSNP:116575289"
variation 1428
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="c"
/replace="g"
/db_xref="dbSNP:183998145"
variation 1443
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="a"
/replace="g"
/db_xref="dbSNP:137955354"
variation 1479
/gene="DYNLL2"
/gene_synonym="Dlc2; DNCL1B; RSPH22"
/replace="c"
/replace="g"
/db_xref="dbSNP:188651450"
ORIGIN
agcggcagagcggagcggagctgtgaggcgccagtgcggagcgggcgggcgggcgggcggcgtgaggcggagcgcgggcggccggcgaaactccaagggcggaccgcggcagggagcgatcggcctcgggctgcgggagccggagaccgcggcggcggcggctgctgcagctgcaggaggagcccagggaacaccgcccctgcctgtgctctgcctcgggccatcgctcctccccagggcccagtgcggactcgcctccgtgaagtgtcacaccatgtctgaccggaaggcagtgatcaagaacgcagacatgtctgaggacatgcaacaggatgccgttgactgcgccacgcaggccatggagaagtacaatatagagaaggacattgctgcctatatcaagaaggaatttgacaagaaatataaccctacctggcattgtatcgtgggccgaaattttggcagctacgtcacacacgagacaaagcacttcatctatttttacttgggtcaagttgcaatcctcctcttcaagtcaggctaggtggccatggtgaaggtgtcagtggcggcggcagcgatggcaagcaggcggcgttgctgggactgttttgcactggagccagcatcaggatgtcctctccaatggctgtgctactgcatggactgtatactcgatttcatgtgtatgtcgcagtaaacaaaaccaaacctctttctgtttagttgcctgggggaagaaggctgctttatgtttatttttcaagactttaaaaatattttttggttgtattgcactaggaaatctctcccacctctcccttttctctttctttccctatacaaaataaaaggcccaccatagagactaggcggccgaaagactaggagggctgaggaaaagaaataggtctctggaggtggaactaaaactgtgcagctgcctcttcctggcggtggatgctgctttgggagggccagggaggctgcagggggacagtgttgggattgtcaaggaaaaaggggtaggaaggaaggtggagggattgatctagtaccagggagaatattccactgaactgtgattctatggcttggggcggagggtggggtggggatgccttctttaggggccctgagatgtgtttgtctgtggtgtgtgggagtggggagcagatttgtcttgctgtctttgtcagaatttctaagtaagggctgtgtctttgtggattaccttcttttgttcttcctgccagagatcatgacaggaggatgctggggtaggattagcttgaatcttttttttctttacatttttctcctgtctgctccctgcttagccctcagtttcctcattcctctggagttctcttagagcagcccctgttgttagttggctggcaagggaatttctggtgactgtagttccttagttaggtcttagcaatcaaaccaaattgatgtctcccttgactcttctgtgtatatgtgtgaatatgtgtgtatatgtgtgtgtatgtgt
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:140735 -> Molecular function: GO:0003774 [motor activity] evidence: IEA
GeneID:140735 -> Molecular function: GO:0008092 [cytoskeletal protein binding] evidence: IEA
GeneID:140735 -> Biological process: GO:0006810 [transport] evidence: IEA
GeneID:140735 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:140735 -> Biological process: GO:0007017 [microtubule-based process] evidence: IEA
GeneID:140735 -> Biological process: GO:0008039 [synaptic target recognition] evidence: IEA
GeneID:140735 -> Biological process: GO:0019886 [antigen processing and presentation of exogenous peptide antigen via MHC class II] evidence: TAS
GeneID:140735 -> Biological process: GO:0097193 [intrinsic apoptotic signaling pathway] evidence: TAS
GeneID:140735 -> Biological process: GO:1900740 [positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway] evidence: TAS
GeneID:140735 -> Cellular component: GO:0005813 [centrosome] evidence: IDA
GeneID:140735 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:140735 -> Cellular component: GO:0005874 [microtubule] evidence: IEA
GeneID:140735 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
GeneID:140735 -> Cellular component: GO:0016459 [myosin complex] evidence: ISS
GeneID:140735 -> Cellular component: GO:0030286 [dynein complex] evidence: IEA
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@meso_cacase at
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