Atlas of Genetics and Cytogenetics in Oncology and Haematology


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DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)

Identity

Alias (NCBI)CMT2O
DHC1
DHC1a
DNCH1
DNCL
DNECL
DYHC
Dnchc1
HL-3
SMALED1
p22
HGNC (Hugo) DYNC1H1
HGNC Alias symbDnchc1
HL-3
p22
DHC1
CMT2O
HGNC Previous nameDNECL
 DNCL
 DNCH1
HGNC Previous namedynein, cytoplasmic, heavy polypeptide 1
LocusID (NCBI) 1778
Atlas_Id 54039
Location 14q32.31  [Link to chromosome band 14q32]
Location_base_pair Starts at 101964573 and ends at 102056443 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    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]
Ensembl hg38 (Hinxton)ENSG00000197102 [Gene_View]  ENSG00000197102 [Sequence]  chr14:101964573-102056443 [Contig_View]  DYNC1H1 [Vega]
ICGC DataPortalENSG00000197102
TCGA cBioPortalDYNC1H1
AceView (NCBI)DYNC1H1
Genatlas (Paris)DYNC1H1
SOURCE (Princeton)DYNC1H1
Genetics Home Reference (NIH)DYNC1H1
Genomic and cartography
GoldenPath hg38 (UCSC)DYNC1H1  -     chr14:101964573-102056443 +  14q32.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DYNC1H1  -     14q32.31   [Description]    (hg19-Feb_2009)
GoldenPathDYNC1H1 - 14q32.31 [CytoView hg19]  DYNC1H1 - 14q32.31 [CytoView hg38]
ImmunoBaseENSG00000197102
Genome Data Viewer NCBIDYNC1H1 [Mapview hg19]  
OMIM158600   600112   614228   614563   
Gene and transcription
Genbank (Entrez)AB002323 AB290157 AF234785 AI241115 AI302138
RefSeq transcript (Entrez)NM_001376
Consensus coding sequences : CCDS (NCBI)DYNC1H1
Gene ExpressionDYNC1H1 [ NCBI-GEO ]   DYNC1H1 [ EBI - ARRAY_EXPRESS ]   DYNC1H1 [ SEEK ]   DYNC1H1 [ MEM ]
Gene Expression Viewer (FireBrowse)DYNC1H1 [ Firebrowse - Broad ]
GenevisibleExpression of DYNC1H1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1778
GTEX Portal (Tissue expression)DYNC1H1
Human Protein AtlasENSG00000197102-DYNC1H1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ14204
Domains : Interpro (EBI)AAA+_ATPase    AAA_6    AAA_9    AAA_lid_11    AAA_lid_11_sf    Dynein_2_C    Dynein_2_N    Dynein_AAA1S    Dynein_AAA5_ext    Dynein_C    Dynein_C_barrel    Dynein_HC_stalk    Dynein_heavy_chain_D4_dom    Dynein_heavy_D6_P-loop    Dynein_heavy_dom-1    Dynein_heavy_dom-2    P-loop_NTPase   
Domain families : Pfam (Sanger)AAA_6 (PF12774)    AAA_8 (PF12780)    AAA_9 (PF12781)    AAA_lid_11 (PF18198)    DHC_N1 (PF08385)    DHC_N2 (PF08393)    Dynein_AAA_lid (PF17852)    Dynein_C (PF18199)    Dynein_heavy (PF03028)    MT (PF12777)   
Domain families : Pfam (NCBI)pfam12774    pfam12780    pfam12781    pfam18198    pfam08385    pfam08393    pfam17852    pfam18199    pfam03028    pfam12777   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)DYNC1H1
PDB (RSDB)2BOR    2BOT    5NUG    5OWO    6F1T    6F1U    6F1V    6F1Y    6F38    6F3A   
PDB Europe2BOR    2BOT    5NUG    5OWO    6F1T    6F1U    6F1V    6F1Y    6F38    6F3A   
PDB (PDBSum)2BOR    2BOT    5NUG    5OWO    6F1T    6F1U    6F1V    6F1Y    6F38    6F3A   
PDB (IMB)2BOR    2BOT    5NUG    5OWO    6F1T    6F1U    6F1V    6F1Y    6F38    6F3A   
Structural Biology KnowledgeBase2BOR    2BOT    5NUG    5OWO    6F1T    6F1U    6F1V    6F1Y    6F38    6F3A   
SCOP (Structural Classification of Proteins)2BOR    2BOT    5NUG    5OWO    6F1T    6F1U    6F1V    6F1Y    6F38    6F3A   
CATH (Classification of proteins structures)2BOR    2BOT    5NUG    5OWO    6F1T    6F1U    6F1V    6F1Y    6F38    6F3A   
SuperfamilyQ14204
AlphaFold pdb e-kbQ14204   
Human Protein Atlas [tissue]ENSG00000197102-DYNC1H1 [tissue]
HPRD02524
Protein Interaction databases
DIP (DOE-UCLA)Q14204
IntAct (EBI)Q14204
BioGRIDDYNC1H1
STRING (EMBL)DYNC1H1
ZODIACDYNC1H1
Ontologies - Pathways
QuickGOQ14204
Ontology : AmiGOG2/M transition of mitotic cell cycle  mitotic cell cycle  RNA binding  protein binding  ATP binding  extracellular region  centrosome  cytosol  cytoplasmic dynein complex  cytoplasmic dynein complex  cytoplasmic dynein complex  microtubule  cytoplasmic microtubule  cell cortex  endoplasmic reticulum to Golgi vesicle-mediated transport  microtubule-based movement  mitotic spindle organization  mitotic spindle organization  nuclear migration  retrograde axonal transport  ATP-dependent microtubule motor activity, minus-end-directed  regulation of G2/M transition of mitotic cell cycle  membrane  viral life cycle  antigen processing and presentation of exogenous peptide antigen via MHC class II  filopodium  dynein complex  cytoplasmic microtubule organization  positive regulation of intracellular transport  P-body assembly  stress granule assembly  azurophil granule lumen  aggrephagy  neutrophil degranulation  dynein intermediate chain binding  establishment of spindle localization  establishment of spindle localization  cell division  dynein light intermediate chain binding  dynein light intermediate chain binding  regulation of mitotic spindle organization  extracellular exosome  minus-end-directed vesicle transport along microtubule  regulation of metaphase plate congression  ciliary basal body-plasma membrane docking  positive regulation of cold-induced thermogenesis  axon cytoplasm  positive regulation of spindle assembly  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  mitotic cell cycle  RNA binding  protein binding  ATP binding  extracellular region  centrosome  cytosol  cytoplasmic dynein complex  cytoplasmic dynein complex  cytoplasmic dynein complex  microtubule  cytoplasmic microtubule  cell cortex  endoplasmic reticulum to Golgi vesicle-mediated transport  microtubule-based movement  mitotic spindle organization  mitotic spindle organization  nuclear migration  retrograde axonal transport  ATP-dependent microtubule motor activity, minus-end-directed  regulation of G2/M transition of mitotic cell cycle  membrane  viral life cycle  antigen processing and presentation of exogenous peptide antigen via MHC class II  filopodium  dynein complex  cytoplasmic microtubule organization  positive regulation of intracellular transport  P-body assembly  stress granule assembly  azurophil granule lumen  aggrephagy  neutrophil degranulation  dynein intermediate chain binding  establishment of spindle localization  establishment of spindle localization  cell division  dynein light intermediate chain binding  dynein light intermediate chain binding  regulation of mitotic spindle organization  extracellular exosome  minus-end-directed vesicle transport along microtubule  regulation of metaphase plate congression  ciliary basal body-plasma membrane docking  positive regulation of cold-induced thermogenesis  axon cytoplasm  positive regulation of spindle assembly  
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
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]  
Fusion : QuiverDYNC1H1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDYNC1H1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DYNC1H1
dbVarDYNC1H1
ClinVarDYNC1H1
MonarchDYNC1H1
1000_GenomesDYNC1H1 
Exome Variant ServerDYNC1H1
GNOMAD BrowserENSG00000197102
Varsome BrowserDYNC1H1
ACMGDYNC1H1 variants
VarityQ14204
Genomic Variants (DGV)DYNC1H1 [DGVbeta]
DECIPHERDYNC1H1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DDYNC1H1
Mutations and Diseases : HGMDDYNC1H1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaDYNC1H1
DgiDB (Drug Gene Interaction Database)DYNC1H1
DoCM (Curated mutations)DYNC1H1
CIViC (Clinical Interpretations of Variants in Cancer)DYNC1H1
Cancer3DDYNC1H1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM158600    600112    614228    614563   
Orphanet18028    18655    20585   
DisGeNETDYNC1H1
MedgenDYNC1H1
Genetic Testing Registry DYNC1H1
NextProtQ14204 [Medical]
GENETestsDYNC1H1
Target ValidationDYNC1H1
Huge Navigator DYNC1H1 [HugePedia]
ClinGenDYNC1H1
Clinical trials, drugs, therapy
MyCancerGenomeDYNC1H1
Protein Interactions : CTDDYNC1H1
Pharm GKB GenePA27432
PharosQ14204
Clinical trialDYNC1H1
Miscellaneous
canSAR (ICR)DYNC1H1
HarmonizomeDYNC1H1
ARCHS4DYNC1H1
DataMed IndexDYNC1H1
Probes
Litterature
PubMed228 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXDYNC1H1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jan 17 15:22:38 CET 2022

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