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DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)

Identity

Alias_namesDNECL
DNCL
DNCH1
dynein
Alias_symbol (synonym)Dnchc1
HL-3
p22
DHC1
CMT2O
Other aliasDHC1a
DYHC
SMALED1
HGNC (Hugo) DYNC1H1
LocusID (NCBI) 1778
Atlas_Id 54039
Location 14q32.31  [Link to chromosome band 14q32]
Location_base_pair Starts at 102430865 and ends at 102517135 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
COL3A1 (2q32.2) / DYNC1H1 (14q32.31)DYNC1H1 (14q32.31) / ATP1A2 (1q23.2)DYNC1H1 (14q32.31) / CAST (5q15)
DYNC1H1 (14q32.31) / CELSR3 (3p21.31)DYNC1H1 (14q32.31) / DYNC1H1 (14q32.31)DYNC1H1 (14q32.31) / FAM193B (5q35.3)
DYNC1H1 (14q32.31) / MPP6 (7p15.3)DYNC1H1 (14q32.31) / ORAOV1 (11q13.3)DYNC1H1 (14q32.31) / PPP2R5C (14q32.31)
DYNC1H1 (14q32.31) / SIAE (11q24.2)DYNC1H1 (14q32.31) / SLAIN2 (4p11)DYNC1H1 (14q32.31) / TMPRSS4 (11q23.3)
DYNC1H1 (14q32.31) / TMPRSS6 (22q12.3)DYNC1H1 (14q32.31) / UBR4 (1p36.13)HSP90AA1 (14q32.31) / DYNC1H1 (14q32.31)
LDOC1 (Xq27.1) / DYNC1H1 (14q32.31)PLAGL1 (6q24.2) / DYNC1H1 (14q32.31)RPL13AP20 (12p13.1) / DYNC1H1 (14q32.31)
SH3BGRL3 (1p36.11) / DYNC1H1 (14q32.31)WDR20 (14q32.31) / DYNC1H1 (14q32.31)DYNC1H1 14q32.31 / PPP2R5C 14q32.31
DYNC1H1 14q32.31 / SIAE 11q24.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)DYNC1H1   2961
Cards
Entrez_Gene (NCBI)DYNC1H1  1778  dynein cytoplasmic 1 heavy chain 1
AliasesCMT2O; DHC1; DHC1a; DNCH1; 
DNCL; DNECL; DYHC; Dnchc1; HL-3; SMALED1; p22
GeneCards (Weizmann)DYNC1H1
Ensembl hg19 (Hinxton)ENSG00000197102 [Gene_View]  chr14:102430865-102517135 [Contig_View]  DYNC1H1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000197102 [Gene_View]  chr14:102430865-102517135 [Contig_View]  DYNC1H1 [Vega]
ICGC DataPortalENSG00000197102
TCGA cBioPortalDYNC1H1
AceView (NCBI)DYNC1H1
Genatlas (Paris)DYNC1H1
WikiGenes1778
SOURCE (Princeton)DYNC1H1
Genetics Home Reference (NIH)DYNC1H1
Genomic and cartography
GoldenPath hg19 (UCSC)DYNC1H1  -     chr14:102430865-102517135 +  14q32.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DYNC1H1  -     14q32.31   [Description]    (hg38-Dec_2013)
EnsemblDYNC1H1 - 14q32.31 [CytoView hg19]  DYNC1H1 - 14q32.31 [CytoView hg38]
Mapping of homologs : NCBIDYNC1H1 [Mapview hg19]  DYNC1H1 [Mapview hg38]
OMIM158600   600112   614228   614563   
Gene and transcription
Genbank (Entrez)AB002323 AB290157 AF234785 AI241115 AI302138
RefSeq transcript (Entrez)NM_001376
RefSeq genomic (Entrez)NC_000014 NC_018925 NG_008777 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)DYNC1H1
Cluster EST : UnigeneHs.614080 [ NCBI ]
CGAP (NCI)Hs.614080
Alternative Splicing GalleryENSG00000197102
Gene ExpressionDYNC1H1 [ NCBI-GEO ]   DYNC1H1 [ EBI - ARRAY_EXPRESS ]   DYNC1H1 [ SEEK ]   DYNC1H1 [ MEM ]
Gene Expression Viewer (FireBrowse)DYNC1H1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1778
GTEX Portal (Tissue expression)DYNC1H1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14204   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14204  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14204
Splice isoforms : SwissVarQ14204
PhosPhoSitePlusQ14204
Domains : Interpro (EBI)AAA+_ATPase    ATPase_dyneun-rel_AAA    DHC_fam    Dynein_HC_stalk    Dynein_heavy_chain_D4_dom    Dynein_heavy_dom    Dynein_heavy_dom-1    Dynein_heavy_dom-2    P-loop_NTPase   
Domain families : Pfam (Sanger)AAA_5 (PF07728)    AAA_8 (PF12780)    DHC_N1 (PF08385)    DHC_N2 (PF08393)    Dynein_heavy (PF03028)    MT (PF12777)   
Domain families : Pfam (NCBI)pfam07728    pfam12780    pfam08385    pfam08393    pfam03028    pfam12777   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)DYNC1H1
DMDM Disease mutations1778
Blocks (Seattle)DYNC1H1
PDB (SRS)2BOR    2BOT   
PDB (PDBSum)2BOR    2BOT   
PDB (IMB)2BOR    2BOT   
PDB (RSDB)2BOR    2BOT   
Structural Biology KnowledgeBase2BOR    2BOT   
SCOP (Structural Classification of Proteins)2BOR    2BOT   
CATH (Classification of proteins structures)2BOR    2BOT   
SuperfamilyQ14204
Human Protein AtlasENSG00000197102
Peptide AtlasQ14204
HPRD02524
IPIIPI00456969   IPI00440177   IPI01025973   
Protein Interaction databases
DIP (DOE-UCLA)Q14204
IntAct (EBI)Q14204
FunCoupENSG00000197102
BioGRIDDYNC1H1
STRING (EMBL)DYNC1H1
ZODIACDYNC1H1
Ontologies - Pathways
QuickGOQ14204
Ontology : AmiGOG2/M transition of mitotic cell cycle  microtubule motor activity  protein binding  ATP binding  centrosome  cytosol  cytoplasmic dynein complex  cytoplasmic dynein complex  microtubule  ER to Golgi vesicle-mediated transport  microtubule-based movement  mitotic spindle organization  metabolic process  membrane  ATPase activity  antigen processing and presentation of exogenous peptide antigen via MHC class II  filopodium  cytoplasmic mRNA processing body assembly  stress granule assembly  poly(A) RNA binding  establishment of spindle localization  dynein light intermediate chain binding  extracellular exosome  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  microtubule motor activity  protein binding  ATP binding  centrosome  cytosol  cytoplasmic dynein complex  cytoplasmic dynein complex  microtubule  ER to Golgi vesicle-mediated transport  microtubule-based movement  mitotic spindle organization  metabolic process  membrane  ATPase activity  antigen processing and presentation of exogenous peptide antigen via MHC class II  filopodium  cytoplasmic mRNA processing body assembly  stress granule assembly  poly(A) RNA binding  establishment of spindle localization  dynein light intermediate chain binding  extracellular exosome  
Pathways : KEGGPhagosome    Vasopressin-regulated water reabsorption    Salmonella infection   
NDEx NetworkDYNC1H1
Atlas of Cancer Signalling NetworkDYNC1H1
Wikipedia pathwaysDYNC1H1
Orthology - Evolution
OrthoDB1778
GeneTree (enSembl)ENSG00000197102
Phylogenetic Trees/Animal Genes : TreeFamDYNC1H1
HOVERGENQ14204
HOGENOMQ14204
Homologs : HomoloGeneDYNC1H1
Homology/Alignments : Family Browser (UCSC)DYNC1H1
Gene fusions - Rearrangements
Fusion : MitelmanDYNC1H1/PPP2R5C [14q32.31/14q32.31]  
Fusion : MitelmanDYNC1H1/SIAE [14q32.31/11q24.2]  [t(11;14)(q24;q32)]  
Fusion: TCGADYNC1H1 14q32.31 PPP2R5C 14q32.31 BRCA
Fusion: TCGADYNC1H1 14q32.31 SIAE 11q24.2 THCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDYNC1H1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DYNC1H1
dbVarDYNC1H1
ClinVarDYNC1H1
1000_GenomesDYNC1H1 
Exome Variant ServerDYNC1H1
ExAC (Exome Aggregation Consortium)DYNC1H1 (select the gene name)
Genetic variants : HAPMAP1778
Genomic Variants (DGV)DYNC1H1 [DGVbeta]
DECIPHER (Syndromes)14:102430865-102517135  ENSG00000197102
CONAN: Copy Number AnalysisDYNC1H1 
Mutations
ICGC Data PortalDYNC1H1 
TCGA Data PortalDYNC1H1 
Broad Tumor PortalDYNC1H1
OASIS PortalDYNC1H1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDYNC1H1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDYNC1H1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DYNC1H1
DgiDB (Drug Gene Interaction Database)DYNC1H1
DoCM (Curated mutations)DYNC1H1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DYNC1H1 (select a term)
intoGenDYNC1H1
Cancer3DDYNC1H1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM158600    600112    614228    614563   
Orphanet18028    18655    20585   
MedgenDYNC1H1
Genetic Testing Registry DYNC1H1
NextProtQ14204 [Medical]
TSGene1778
GENETestsDYNC1H1
Huge Navigator DYNC1H1 [HugePedia]
snp3D : Map Gene to Disease1778
BioCentury BCIQDYNC1H1
ClinGenDYNC1H1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1778
Chemical/Pharm GKB GenePA27432
Clinical trialDYNC1H1
Miscellaneous
canSAR (ICR)DYNC1H1 (select the gene name)
Probes
Litterature
PubMed135 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDYNC1H1
EVEXDYNC1H1
GoPubMedDYNC1H1
iHOPDYNC1H1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Mar 14 13:04:05 CET 2017

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