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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DYNLL1 Gene

protein-coding   GIFtS: 64
GCID: GC12P120908

dynein, light chain, LC8-type 1

(Previous names: dynein, cytoplasmic, light polypeptide 1 )
(Previous symbol: DNCL1)
 Explore 20 diseases affiliated with
DYNLL1 via our new
 Human Malady Compendium 
Biological research products
for DYNLL1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Dynein, Light Chain, LC8-Type 11 2     Protein Inhibitor Of Neuronal Nitric Oxide Synthase2 3
DLC11 2 3 5     8 KDa Dynein Light Chain2 3
DNCL11 2 3 5     DNCLC12 3
PIN1 2 3 5     LC8a2
DLC81 2 3     Cytoplasmic Dynein Light Polypeptide2
LC81 2     Dynein Light Chain 1, Cytoplasmic2
Dynein, Cytoplasmic, Light Polypeptide 11 2     HDLC13
Hdlc11     Dynein Light Chain LC8-Type 13

External Ids:    HGNC: 154761   Entrez Gene: 86552   Ensembl: ENSG000000889867   OMIM: 6015625   UniProtKB: P631673   

Export aliases for DYNLL1 gene to outside databases

Previous GC identifers: GC12P119397 GC12P117917


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DYNLL1:
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)

UniProtKB/Swiss-Prot: DYL1_HUMAN, P63167
Function: Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are
thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic
dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May
play a role in changing or maintaining the spatial distribution of cytoskeletal structures
Function: Binds and inhibits the catalytic activity of neuronal nitric oxide synthase
Function: Promotes transactivation functions of ESR1 and plays a role in the nuclear localization of ESR1
Function: Regulates apoptotic activities of BCL2L11 by sequestering it to microtubules. Upon apoptotic stimuli the
BCL2L11-DYNLL1 complex dissociates from cytoplasmic dynein and translocates to mitochondria and sequesters BCL2 thus
neutralizing its antiapoptotic activity

Gene Wiki entry for DYNLL1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009775.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DYNLL1 gene promoter:
         Max   GR   GR-beta   GR-alpha   Egr-4   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DYNLL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DYNLL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DYNLL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.23   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24.23

DYNLL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DYNLL1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P120908:  view genomic region     (about GC identifiers)

Start:
120,907,653 bp from pter      End:
120,936,298 bp from pter
Size:
28,646 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DYL1_HUMAN, P63167 (See protein sequence)
Recommended Name: Dynein light chain 1, cytoplasmic  
Size: 89 amino acids; 10366 Da
Subunit: Homodimer. Monomer; the monomeric form is incapable of binding to target proteins. The cytoplasmic dynein 1
complex consists of two catalytic heavy chains (HCs) and a number of non-catalytic subunits presented by intermediate
chains (ICs), light intermediate chains (LICs) and light chains (LCs); the composition seems to vary in respect to the
IC, LIC and LC composition. The heavy chain homodimer serves as a scaffold for the probable homodimeric assembly of
the respective non-catalytic subunits. The ICs and LICs bind directly to the HC dimer and the LCs assemble on the IC
dimer. Interacts with rabies P protein (By similarity). Interacts with TXNDC17. Interacts with WWC1 and ESR1. The
WWC1-DYNLL1 interaction is mandatory for the recruitment and transactivation functions of ESR1 or DYNLL1 to the target
chromatin. Interacts with BCL2L11 isoform 1 and isoform 2. Interacts with BCL2; the interaction is greatly enhanced in
the nucleus and in mitochondria upon induction of apoptosis. Interacts with PAK1; the interaction requires dimeric
DYNLL1. Interacts with human spumaretrovirus Gag protein; this interaction is critical for intracellular
microtubule-dependent viral genome transport toward the centrosome. Interacts with MYZAP. Part of an astrin
(SPAG5)-kinastrin (SKAP) complex containing KNSTRN, SPAG5, PLK1, DYNLL1 and SGOL2. Interacts with ATMIN; this
interaction inhibits ATMIN transcriptional activity and hence may play a role in a feedback loop whereby DYNLL1
inhibits transactivation of its own promoter by ATMIN
Subcellular location: Cytoplasm, cytoskeleton. Nucleus. Mitochondrion. Note=Upon induction of apoptosis translocates
together with BCL2L11 to mitochondria
1 PDB 3D structure from and Proteopedia for DYNLL1:
1CMI (3D)    
Secondary accessions: Q15701

Explore the universe of human proteins at neXtProt for DYNLL1: NX_P63167

Post-translational modifications:

  • Phosphorylation at Ser-88 appears to control the dimer-monomer transition. According to PubMed:15193260, it is
  • phosphorylated at Ser-88 by PAK1, however, according to PubMed:18650427, the DYNLL1 dimer is not accessible for PAK1
    and the phosphorylation could not be demonstrated in vitro1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P63167

  • DYNLL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001032583.1  NP_001032584.1  NP_003737.1  

    ENSEMBL proteins: 
     ENSP00000376297   ENSP00000448834   ENSP00000447907   ENSP00000242577   ENSP00000448608  
     ENSP00000376296   ENSP00000446596   ENSP00000447494   ENSP00000446614   ENSP00000449088  
    Reactome Protein details: P63167
    Human Recombinant Protein Products: 
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    Uscn Proteins for DYNLL1

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15891768
    GO:0005737cytoplasm IDA15891768
    GO:0005739mitochondrion IEA--
    GO:0005813centrosome IDA--
    GO:0005829cytosol TAS--


    DYNLL1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    DYNLL1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR019763 Dynein_light_1/2_CS
     IPR001372 Dynein_light_chain_typ-1/2

    Graphical View of Domain Structure for InterPro Entry P63167

    ProtoNet protein and cluster: P63167

    UniProtKB/Swiss-Prot: DYL1_HUMAN, P63167
    Similarity: Belongs to the dynein light chain family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: DYL1_HUMAN, P63167
    Function: Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are
    thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic
    dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May
    play a role in changing or maintaining the spatial distribution of cytoskeletal structures
    Function: Binds and inhibits the catalytic activity of neuronal nitric oxide synthase
    Function: Promotes transactivation functions of ESR1 and plays a role in the nuclear localization of ESR1
    Function: Regulates apoptotic activities of BCL2L11 by sequestering it to microtubules. Upon apoptotic stimuli the
    BCL2L11-DYNLL1 complex dissociates from cytoplasmic dynein and translocates to mitochondria and sequesters BCL2 thus
    neutralizing its antiapoptotic activity
    Induction: Up-regulated by ATMIN, PAK1 and estrogen

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    Inhib. RNA
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003774motor activity IEA--
    GO:0005515protein binding IPI18420585
    GO:0008022protein C-terminus binding IEA--
    GO:0019899enzyme binding IEA--
    GO:0019904protein domain specific binding IEA--


    DYNLL1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for DYNLL1:
     Cell division defect  Increased G2M DNA content 

    Animal Models:
         Mouse knock-out Dynll1tm1(KOMP)Wtsi for DYNLL1
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dynll1):
     mortality/aging  no phenotypic analysis 

    DYNLL1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/11 super-pathways (see all 11About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Recruitment of mitotic centrosome proteins and complexes
    Recruitment of mitotic centrosome proteins and complexes1.00
    Mitotic G2-G2/M phases0.81
    Centrosome maturation1.00
    Loss of proteins required for interphase microtubule organization from the centrosome0.78
    G2/M Transition0.83
    Loss of Nlp from mitotic centrosomes0.78
    2Cell cycle_Spindle assembly and chromosome separation
    Cell cycle_Spindle assembly and chromosome separation1.00
    Cell cycle Spindle assembly and chromosome separation0.94
    3Immune System
    Immune System1.00
    Adaptive Immune System0.59
    4MHC class II antigen presentation
    MHC class II antigen presentation1.00
    Transport of antigen loaded MHC II molecules to surface0.59
    5Cell Cycle
    Cell Cycle1.00
    Cell Cycle, Mitotic0.84

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for DYNLL1
        Cell cycle Spindle assembly and chromosome separation
    Cytoplasmic microtubules


    2 GeneGo (Thomson Reuters) Pathways for DYNLL1
        Cell cycle Spindle assembly and chromosome separation
    Regulation of degradation of deltaF508 CFTR in CF

    5/16        Reactome Pathways for DYNLL1 (see all 16)
        Cell Cycle
    Recruitment of mitotic centrosome proteins and complexes
    Apoptosis
    Transport of antigen loaded MHC II molecules to surface
    Intrinsic Pathway for Apoptosis


    1         Kegg Pathway  (Kegg details for DYNLL1):
        Vasopressin-regulated water reabsorption


    DYNLL1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DYNLL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/186 Interacting proteins for DYNLL1 (P631671, 2, 3 ENSP000002425774) via UniProtKB, MINT, STRING, and/or I2D (see all 186)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYZAPP0CAP12, 3MINT-7713307 MINT-7713382 MINT-7713439 MINT-7713280 MINT-7713396 MINT-7713416 I2D: score=1 
    RGS2P412202, 3MINT-63730 MINT-8268757 I2D: score=4 
    C14orf1Q9UKR52, 3MINT-63988 I2D: score=4 
    DNAJB9Q9UBS32, 3MINT-65686 I2D: score=4 
    NDUFA4L2Q9NRX32, 3MINT-65618 I2D: score=4 
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0006810transport IEA--


    DYNLL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DYNLL1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for DYNLL1

    1 HMDB Compound for DYNLL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Nitric oxideMononitrogen monoxide (see all 9)10102-43-9--
    2 Novoseek chemical compound relationships for DYNLL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nitric oxide 50 40 8842789 (4), 17169380 (2), 8902202 (1), 9011564 (1) (see all 18)
    arginine 28.6 1 8653881 (1)

    Search CenterWatch for drugs/clinical trials and news about DYNLL1 / DYL1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DYNLL1 gene (3 alternative transcripts): 
    NM_001037494.1  NM_001037495.1  NM_003746.2  

    Unigene Cluster for DYNLL1:

    Dynein, light chain, LC8-type 1
    Hs.5120  [show with all ESTs]
    Unigene Representative Sequence: AK309022
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392509(uc001tyj.3) ENST00000549649 ENST00000548342 ENST00000242577(uc001tyl.3 uc001tym.3)
    ENST00000548214 ENST00000392508 ENST00000550178 ENST00000550845 ENST00000549989
    ENST00000552870 ENST00000552316

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    Additional cDNA sequence: 

    AK309022.1 AK311790.1 BC100289.1 BC104244.1 BC104245.1 CR407672.1 CR542128.1 U32944.1 

    24/26 DOTS entries (see all 26):

    DT.92037299  DT.97864495  DT.87017756  DT.95079267  DT.95079262  DT.95079313  DT.92050506  DT.91768590 
    DT.121184610  DT.121184622  DT.121184649  DT.95079311  DT.100887692  DT.91768594  DT.91901906  DT.100887684 
    DT.91837056  DT.100001119  DT.121184613  DT.121184614  DT.100887683  DT.100887691  DT.87079971  DT.91768584 

    24/951 AceView cDNA sequences (see all 951):

    BM704166 BX328776 CA867039 BM835845 BM693484 AI279171 BE907838 BU580971 
    BM834090 CA312682 BM894223 BQ269374 BM315023 AA633050 CA867138 CN478546 
    CB156690 H65698 AI128720 CA942432 BM827331 BI835694 BM668764 BM664897 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DYNLL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GACTGTGCCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See DYNLL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DYNLL1

    SOURCE GeneReport for Unigene cluster: Hs.5120

    UniProtKB/Swiss-Prot: DYL1_HUMAN, P63167
    Tissue specificity: Ubiquitous

        SABiosciences Expression via Pathway-Focused PCR Arrays including DYNLL1: 
              Nitric Oxide Signaling Pathway in human mouse rat
              Neurotoxicity in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DYNLL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DYNLL1 gene from 7/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dynll11 , 5 dynein light chain LC8-type 11, 5 92.88(n)1
    100(a)1
      5 (56.04 cM)5
    564551  NM_019682.41  NP_062656.31 
     1152971105 
    chicken
    (Gallus gallus)
    Aves GGA.469206
    DYNLL16
    (see all 3)
    Uncharacterized protein
    (see all 3)
    98(a)
    81(a)
    (see all 3)
    possible ortholog
    1 ↔ 1
    (see all 3)
    15(9539808-9542984)
    15(9549984-9551447)
    lizard
    (Anolis carolinensis)
    Reptilia DYNLL16
    --
    99(a)
    1 ↔ 1
    GL343338.1(90283-91341)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.84212 Xenopus laevis transcribed sequence with strong similarity more 83.45(n)    48053605 
    zebrafish
    (Danio rerio)
    Actinopterygii dynll16
    dynein, light chain, LC8-type 1
    97(a)
    1 ↔ 1
    8(2662318-2666539)
    fruit fly
    (Drosophila melanogaster)
    Insecta Cdlc26
    ctp6
    cut up
    94(a)
    94(a)
    possible ortholog
    1 ↔ 1
    2L(1344480-1345144)
    X(4581825-4596067)
    Alicante grape
    (Vitis vinifera)
    eudicotyledons Vvi.8912 Vitis vinifera transcribed sequence with moderate similarity more 77.97(n)    CF512772.1 


    ENSEMBL Gene Tree for DYNLL1 (if available)
    TreeFam Gene Tree for DYNLL1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DYNLL1 gene
    DNAL42  DYNLL22  
    4 SIMAP similar genes for DYNLL1 using alignment to 4 protein entries:     DYL1_HUMAN (see all proteins):
    DNCL1    DYNLL2    LOC392067    DNAL4

    DYNLL1 for paralogs           About GeneDecksing


    5/7 Pseudogenes.org Pseudogenes for DYNLL1 (see all 7)
    PGOHUM00000239583 PGOHUM00000261846 PGOHUM00000248243 PGOHUM00000244625 PGOHUM00000238237


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/491 NCBI SNPs in DYNLL1 are shown (see all 491    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1890908041,2
    --120905678(+) GGATCA/CCTTGA 2 -- us2k1 int10--------
    rs47678991,2
    C,F,A,H,--120905727(+) ACCCCA/GTATCT 2 -- int1 us2k121Minor allele frequency- G:0.24NS EA NA WA CSA 2054
    rs779810561,2
    C,F--120905759(+) CAGGCG/ATGATG 2 -- us2k1 int12Minor allele frequency- A:0.50NA 4
    rs777211791,2
    C,F--120905762(+) GCATGG/ATGGCG 2 -- us2k1 int12Minor allele frequency- A:0.50NA 4
    rs1124120161,2
    C--120905775(+) CGCCTG/ATAATC 2 -- us2k1 int11Minor allele frequency- A:0.50NA 2
    rs752860571,2
    C,F--120905794(+) TGGGAC/AGCTGA 2 -- int1 us2k12Minor allele frequency- A:0.50NA 4
    rs753998511,2
    C,F--120905800(+) GCTGAG/AGCGGG 2 -- us2k1 int12Minor allele frequency- A:0.50NA 4
    rs47669641,2
    C,F,A,H--120905813(+) aatcgC/Attgaa 2 -- int1 us2k13Minor allele frequency- A:0.50NA 6
    rs47679001,2
    C,A,H--120905829(+) gtggcC/Ggaggt 2 -- us2k1 int11Minor allele frequency- G:0.00NA 2
    rs47679011,2
    C,F,A,H--120905838(+) gttgcG/Agtggg 2 -- int1 us2k13Minor allele frequency- A:0.50NA 6

    HapMap Linkage Disequilibrium report for DYNLL1 (120907653 - 120936298 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DYNLL1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DYNLL1
    DNA2.0 Custom Variant and Variant Library Synthesis for DYNLL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    DYNLL1 for disorders           About GeneDecksing

    OMIM gene information: 601562    OMIM disorders: --

    20 diseases for DYNLL1:    About MalaCards
    neuronitis    cerebral cavernous malformations    cavernous malformation    cerebral cavernous malformations 3
    mature cataract    sickle cell disease    herpes simplex    cystic fibrosis
    multiple myeloma    keloids    cerebritis    rabies
    cataract    myeloma    fibrosis    colon carcinoma
    peritonitis    hypertension    carcinoma    malaria

    1 disease from the University of Copenhagen DISEASES database for DYNLL1:
    Mature cataract

    1 Novoseek disease relationship for DYNLL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 2 18650427 (1), 15193260 (1)

    Human Genome Epidemiology (HuGE) Navigator: DYNLL1 (1 document)

    Export disorders for DYNLL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DYNLL1 gene, integrated from 9 sources (see all 137):
    (articles sorted by number of sources associating them with DYNLL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cytoplasmic dynein (ddlc1) mutations cause morphogenetic defects and apoptotic cell death in Drosophila melanogaster. (PubMed id 8628263)1, 2, 3 Dick T.... Chia W. (1996)
    2. Serine 88 phosphorylation of the 8-kDa dynein light chain 1 is a molecular switch for its dimerization status and functions. (PubMed id 18084006)1, 2, 9 Song C....Kumar R. (2008)
    3. Dynein light chain 1, a p21-activated kinase 1-interacting substrate, promotes cancerous phenotypes. (PubMed id 15193260)1, 2, 9 Vadlamudi R.K....Kumar R. (2004)
    4. The proapoptotic activity of the Bcl-2 family member Bim is regulated by interaction with the dynein motor complex. (PubMed id 10198631)1, 2, 9 Puthalakath H....Strasser A. (1999)
    5. Structure of the PIN/LC8 dimer with a bound peptide. (PubMed id 10426949)1, 2, 9 Liang J.... Clardy J. (1999)
    6. ATM substrate Chk2-interacting Zn2+ finger (ASCIZ) Is a bi-functional transcriptional activator and feedback sensor in the regulation of dynein light chain (DYNLL1) expression. (PubMed id 22167198)1, 2 Jurado S....Heierhorst J. (2012)
    7. Structural basis for the interaction between dynein l ight chain 1 and the glutamate channel homolog GRINL1A. (PubMed id 20412299)1, 2 GarcA-a-Mayoral M.F....Bruix M. (2010)
    8. Essential role of KIBRA in co-activator function of dynein light chain 1 in mammalian cells. (PubMed id 16684779)1, 2 Rayala S.K.... Kumar R. (2006)
    9. Functional regulation of oestrogen receptor pathway by the dynein light chain 1. (PubMed id 15891768)1, 2 Rayala S.K....Kumar R. (2005)
    10. Cytoplasmic dynein nomenclature. (PubMed id 16260502)1, 3 Pfister K.K....Vallee R.B. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8655 HGNC: 15476 AceView: DNCL1 Ensembl:ENSG00000088986 euGenes: HUgn8655
    ECgene: DYNLL1 Kegg: 8655 H-InvDB: DYNLL1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DYNLL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DYNLL1 gene:
    Search GeneIP for patents involving DYNLL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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