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2024-04-24 14:51:49, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001037495 747 bp mRNA linear PRI 01-JUL-2013
DEFINITION Homo sapiens dynein, light chain, LC8-type 1 (DYNLL1), transcript
variant 2, mRNA.
ACCESSION NM_001037495
VERSION NM_001037495.1 GI:83267867
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 747)
AUTHORS Gallego,P., Velazquez-Campoy,A., Regue,L., Roig,J. and Reverter,D.
TITLE Structural analysis of the regulation of the DYNLL/LC8 binding to
Nek9 by phosphorylation
JOURNAL J. Biol. Chem. 288 (17), 12283-12294 (2013)
PUBMED 23482567
REMARK GeneRIF: Structural analysis of LC8 with both Nek9 peptides,
together with different biophysical experiments, explains the
observed diminished binding affinity of Nek9 to LC8 upon
phosphorylation on Ser(944) within the Nek9 sequence
REFERENCE 2 (bases 1 to 747)
AUTHORS Raaijmakers,J.A., Tanenbaum,M.E. and Medema,R.H.
TITLE Systematic dissection of dynein regulators in mitosis
JOURNAL J. Cell Biol. 201 (2), 201-215 (2013)
PUBMED 23589491
REMARK GeneRIF: Dynein forms distinct complexes requiring specific
recruiters and activators to promote orderly progression through
mitosis.
REFERENCE 3 (bases 1 to 747)
AUTHORS Kim,H., Hyeon,S., Kim,H., Yang,Y., Huh,J.Y., Park,D.R., Lee,H.,
Seo,D.H., Kim,H.S., Lee,S.Y. and Jeong,W.
TITLE Dynein light chain LC8 inhibits osteoclast differentiation and
prevents bone loss in mice
JOURNAL J. Immunol. 190 (3), 1312-1318 (2013)
PUBMED 23293355
REMARK GeneRIF: Overexpressed human LC8 inhibits mouse osteoclast
differentiation by regulating NF-kappaB & MAPK pathways and
suppressing RANKL signaling.
REFERENCE 4 (bases 1 to 747)
AUTHORS Kotak,S., Busso,C. and Gonczy,P.
TITLE Cortical dynein is critical for proper spindle positioning in human
cells
JOURNAL J. Cell Biol. 199 (1), 97-110 (2012)
PUBMED 23027904
REMARK GeneRIF: appropriate levels of ternary complex components are
critical for dynein-dependent spindle positioning in HeLa cells and
C. elegans embryos
REFERENCE 5 (bases 1 to 747)
AUTHORS Dunsch,A.K., Hammond,D., Lloyd,J., Schermelleh,L., Gruneberg,U. and
Barr,F.A.
TITLE Dynein light chain 1 and a spindle-associated adaptor promote
dynein asymmetry and spindle orientation
JOURNAL J. Cell Biol. 198 (6), 1039-1054 (2012)
PUBMED 22965910
REMARK GeneRIF: DYNLL1 interacted with a spindle-microtubule-associated
adaptor formed by CHICA and HMMR via TQT motifs in CHICA.
REFERENCE 6 (bases 1 to 747)
AUTHORS Crepieux,P., Kwon,H., Leclerc,N., Spencer,W., Richard,S., Lin,R.
and Hiscott,J.
TITLE I kappaB alpha physically interacts with a cytoskeleton-associated
protein through its signal response domain
JOURNAL Mol. Cell. Biol. 17 (12), 7375-7385 (1997)
PUBMED 9372968
REFERENCE 7 (bases 1 to 747)
AUTHORS Jaffrey,S.R. and Snyder,S.H.
TITLE PIN: an associated protein inhibitor of neuronal nitric oxide
synthase
JOURNAL Science 274 (5288), 774-777 (1996)
PUBMED 8864115
REFERENCE 8 (bases 1 to 747)
AUTHORS Dick,T., Ray,K., Salz,H.K. and Chia,W.
TITLE Cytoplasmic dynein (ddlc1) mutations cause morphogenetic defects
and apoptotic cell death in Drosophila melanogaster
JOURNAL Mol. Cell. Biol. 16 (5), 1966-1977 (1996)
PUBMED 8628263
REFERENCE 9 (bases 1 to 747)
AUTHORS Golsteyn,R.M., Mundt,K.E., Fry,A.M. and Nigg,E.A.
TITLE Cell cycle regulation of the activity and subcellular localization
of Plk1, a human protein kinase implicated in mitotic spindle
function
JOURNAL J. Cell Biol. 129 (6), 1617-1628 (1995)
PUBMED 7790358
REFERENCE 10 (bases 1 to 747)
AUTHORS Robertson,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R.
and Morton,C.C.
TITLE Isolation of novel and known genes from a human fetal cochlear cDNA
library using subtractive hybridization and differential screening
JOURNAL Genomics 23 (1), 42-50 (1994)
PUBMED 7829101
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BG705617.1, BU598428.1,
BM817665.1, BC104244.1, CD678447.1 and BI491360.1.
Summary: Cytoplasmic dyneins are large enzyme complexes with a
molecular mass of about 1,200 kD. They contain two force-producing
heads formed primarily from dynein heavy chains, and stalks linking
the heads to a basal domain, which contains a varying number of
accessory intermediate chains. The complex is involved in
intracellular transport and motility. The protein described in this
record is a light chain and exists as part of this complex but also
physically interacts with and inhibits the activity of neuronal
nitric oxide synthase. Binding of this protein destabilizes the
neuronal nitric oxide synthase dimer, a conformation necessary for
activity, and it may regulate numerous biologic processes through
its effects on nitric oxide synthase activity. Alternate
transcriptional splice variants have been characterized. [provided
by RefSeq, Jul 2008].
Transcript Variant: This variant (2) contains a distinct 5' UTR
including an alternate, downstream transcription initiation site.
Variants 1, 2 and 3 encode the same protein.
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 :: BU943536.1, BG714280.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-6 BG705617.1 6-11
7-55 BU598428.1 7-55
56-95 BM817665.1 2-41
96-695 BC104244.1 1-600
696-734 CD678447.1 492-530
735-747 BI491360.1 6-18 c
FEATURES Location/Qualifiers
source 1..747
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="12"
/map="12q24.23"
gene 1..747
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/note="dynein, light chain, LC8-type 1"
/db_xref="GeneID:8655"
/db_xref="HGNC:15476"
/db_xref="HPRD:03334"
/db_xref="MIM:601562"
exon 1..161
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/inference="alignment:Splign:1.39.8"
variation 88
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/replace="g"
/replace="t"
/db_xref="dbSNP:12857"
variation 94
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/replace="a"
/replace="g"
/db_xref="dbSNP:117015363"
STS 96..695
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/db_xref="UniSTS:489754"
variation 119
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/replace="a"
/replace="g"
/db_xref="dbSNP:580016"
variation 121..122
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/replace="a"
/replace="c"
/db_xref="dbSNP:11544052"
variation 141
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/replace="c"
/replace="t"
/db_xref="dbSNP:368159020"
variation 159
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/replace="a"
/replace="g"
/db_xref="dbSNP:11544058"
exon 162..313
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/inference="alignment:Splign:1.39.8"
misc_feature 173..175
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/note="upstream in-frame stop codon"
CDS 182..451
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/note="protein inhibitor of neuronal nitric oxide
synthase; dynein, cytoplasmic, light polypeptide 1; 8 kDa
dynein light chain; cytoplasmic dynein light polypeptide"
/codon_start=1
/product="dynein light chain 1, cytoplasmic"
/protein_id="NP_001032584.1"
/db_xref="GI:83267868"
/db_xref="CCDS:CCDS9200.1"
/db_xref="GeneID:8655"
/db_xref="HGNC:15476"
/db_xref="HPRD:03334"
/db_xref="MIM:601562"
/translation="
MCDRKAVIKNADMSEEMQQDSVECATQALEKYNIEKDIAAHIKKEFDKKYNPTWHCIVGRNFGSYVTHETKHFIYFYLGQVAILLFKSG
"
misc_feature 182..448
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/note="dynein light chain; Provisional; Region: PTZ00059"
/db_xref="CDD:185421"
misc_feature 287..289
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (P63167.1); acetylation site"
misc_feature 380..448
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P63167.1);
Region: Interaction with ESR1"
misc_feature 443..445
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P63167.1); phosphorylation site"
misc_feature 443..445
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
variation 192
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/replace="a"
/replace="g"
/db_xref="dbSNP:11544060"
variation 218
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/replace="a"
/replace="t"
/db_xref="dbSNP:11544054"
variation 235
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/replace="a"
/replace="g"
/db_xref="dbSNP:376903988"
variation 244
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/replace="c"
/replace="g"
/db_xref="dbSNP:371347212"
variation 274
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/replace="a"
/replace="t"
/db_xref="dbSNP:1804584"
variation 277
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/replace="a"
/replace="g"
/db_xref="dbSNP:201066537"
exon 314..736
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/inference="alignment:Splign:1.39.8"
variation 346
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/replace="c"
/replace="t"
/db_xref="dbSNP:142458935"
variation 376
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/replace="c"
/replace="t"
/db_xref="dbSNP:142759655"
variation 382
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/replace="a"
/replace="t"
/db_xref="dbSNP:192682652"
variation 397
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/replace="c"
/replace="t"
/db_xref="dbSNP:182992333"
STS 468..697
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/standard_name="RH80827"
/db_xref="UniSTS:84446"
STS 515..620
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/standard_name="G34959"
/db_xref="UniSTS:117669"
STS 515..620
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/standard_name="RH67198"
/db_xref="UniSTS:90322"
variation 539
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/replace="c"
/replace="g"
/db_xref="dbSNP:187531165"
variation 681
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
/replace="c"
/replace="t"
/db_xref="dbSNP:376272529"
polyA_signal 714..719
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
polyA_site 736
/gene="DYNLL1"
/gene_synonym="DLC1; DLC8; DNCL1; DNCLC1; hdlc1; LC8;
LC8a; PIN"
ORIGIN
ggcgggagcagggcggggcctgagcactaggcggcggcggctggcgtggggctgcttagatgcgccacggtttcggtagcgacggtatctctagccgggcctgagctgtgctagcacctcccccaggagaccgttgcagtcggccagcccccttctccacggccttgcccactaggtaaccatgtgcgaccgaaaggccgtgatcaaaaatgcggacatgtcggaagagatgcaacaggactcggtggagtgcgctactcaggcgctggagaaatacaacatagagaaggacattgcggctcatatcaagaaggaatttgacaagaagtacaatcccacctggcattgcatcgtggggaggaacttcggtagttatgtgacacatgaaaccaaacacttcatctacttctacctgggccaagtggccattcttctgttcaaatctggttaaaagcatggactgtgccacacacccagtgatccatccaaaaacaaggactgcagcctaaattccaaataccagagactgaaattttcagccttgctaagggaacatctcgatgtttgaacctttgttgtgttttgtacagggcattctctgtactagtttgtcgtggttataaaacaattagcagaatagcctacatttgtatttattttctattccatacttctgcccacgttgttttctctcaaaatccattcctttaaaaaataaatctgatgcagatgtgtaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:8655 -> Molecular function: GO:0003774 [motor activity] evidence: IEA
GeneID:8655 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:8655 -> Molecular function: GO:0008022 [protein C-terminus binding] evidence: IEA
GeneID:8655 -> Molecular function: GO:0019899 [enzyme binding] evidence: IEA
GeneID:8655 -> Molecular function: GO:0019904 [protein domain specific binding] evidence: IEA
GeneID:8655 -> Molecular function: GO:0030235 [nitric-oxide synthase regulator activity] evidence: IEA
GeneID:8655 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: IEA
GeneID:8655 -> Biological process: GO:0000086 [G2/M transition of mitotic cell cycle] evidence: TAS
GeneID:8655 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS
GeneID:8655 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:8655 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: IEA
GeneID:8655 -> Biological process: GO:0006810 [transport] evidence: IEA
GeneID:8655 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:8655 -> Biological process: GO:0007017 [microtubule-based process] evidence: IEA
GeneID:8655 -> Biological process: GO:0007292 [female gamete generation] evidence: TAS
GeneID:8655 -> Biological process: GO:0009653 [anatomical structure morphogenesis] evidence: TAS
GeneID:8655 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: IEA
GeneID:8655 -> Biological process: GO:0019886 [antigen processing and presentation of exogenous peptide antigen via MHC class II] evidence: TAS
GeneID:8655 -> Biological process: GO:0030036 [actin cytoskeleton organization] evidence: TAS
GeneID:8655 -> Biological process: GO:0042326 [negative regulation of phosphorylation] evidence: IDA
GeneID:8655 -> Biological process: GO:0097193 [intrinsic apoptotic signaling pathway] evidence: TAS
GeneID:8655 -> Biological process: GO:1900740 [positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway] evidence: TAS
GeneID:8655 -> Cellular component: GO:0000776 [kinetochore] evidence: IDA
GeneID:8655 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:8655 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:8655 -> Cellular component: GO:0005739 [mitochondrion] evidence: IEA
GeneID:8655 -> Cellular component: GO:0005813 [centrosome] evidence: IDA
GeneID:8655 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:8655 -> Cellular component: GO:0005868 [cytoplasmic dynein complex] evidence: ISS
GeneID:8655 -> Cellular component: GO:0005874 [microtubule] evidence: IEA
GeneID:8655 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
GeneID:8655 -> Cellular component: GO:0008180 [COP9 signalosome] evidence: IDA
GeneID:8655 -> Cellular component: GO:0072686 [mitotic spindle] evidence: IDA
by
@meso_cacase at
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