Human Gene DYNC1H1 (uc001ykt.1)
  Description: Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.
RefSeq Summary (NM_001376): Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008].
Transcript (Including UTRs)
   Position: hg19 chr14:102,481,442-102,490,140 Size: 8,699 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr14:102,482,740-102,489,271 Size: 6,532 Coding Exon Count: 7 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:102,481,442-102,490,140)mRNA (may differ from genome)Protein (387 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
EnsemblExonPrimerGeneCardsGeneNetworkH-INVHGNC
LynxMalacardsMGIPubMedTreefamWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DYNC1H1
CDC HuGE Published Literature: DYNC1H1
Positive Disease Associations: Blood Pressure Determination , Menopause
Related Studies:
  1. Blood Pressure Determination
    , , . [PubMed 0]
  2. Menopause
    Lisette Stolk et al. Nature genetics 2009, Loci at chromosomes 13, 19 and 20 influence age at natural menopause., Nature genetics. [PubMed 19448619]

-  MalaCards Disease Associations
  MalaCards Gene Search: DYNC1H1
Diseases sorted by gene-association score: charcot-marie-tooth disease, axonal, type 20* (1550), spinal muscular atrophy, lower extremity-predominant 1, ad* (1550), mental retardation, autosomal dominant 13* (1330), charcot-marie-tooth disease type 2o* (400), neuronal migration disorders* (400), spinal muscular atrophy* (316), autosomal dominant non-syndromic intellectual disability* (211), charcot-marie-tooth disease* (132), roussy-levy syndrome* (111), spinal muscular atrophy, lower extremity, autosomal dominant* (100), charcot-marie-tooth neuropathy type 2o* (100), muscular atrophy (16), chromosome 15q24 deletion syndrome (8), mental retardation and microcephaly with pontine and cerebellar hypoplasia (7), charcot-marie-tooth disease, axonal, type 2k (7), motor neuron disease (2), neuropathy, congenital hypomyelinating (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 60.13 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 1410.71 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -294.26775-0.380 Picture PostScript Text
3' UTR -298.60869-0.344 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  AB290157 - Homo sapiens mRNA for DYNC1H1/KIAA0325 variant protein, complete cds.
AB002323 - Homo sapiens KIAA0325 mRNA for KIAA0325 protein.
AB527134 - Synthetic construct DNA, clone: pF1KA0325, Homo sapiens DYNC1H1 gene for dynein, cytoplasmic 1, heavy chain 1, without stop codon, in Flexi system.
AL833600 - Homo sapiens mRNA; cDNA DKFZp686G1167 (from clone DKFZp686G1167).
BX648670 - Homo sapiens mRNA; cDNA DKFZp686P2245 (from clone DKFZp686P2245).
AK095415 - Homo sapiens cDNA FLJ38096 fis, clone CTONG2028097, highly similar to DYNEIN HEAVY CHAIN, CYTOSOLIC.
AK023747 - Homo sapiens cDNA FLJ13685 fis, clone PLACE2000039, highly similar to DYNEIN HEAVY CHAIN, CYTOSOLIC.
JD146338 - Sequence 127362 from Patent EP1572962.
JD226355 - Sequence 207379 from Patent EP1572962.
JD243963 - Sequence 224987 from Patent EP1572962.
JD243964 - Sequence 224988 from Patent EP1572962.
JD431329 - Sequence 412353 from Patent EP1572962.
JD239040 - Sequence 220064 from Patent EP1572962.
JD051688 - Sequence 32712 from Patent EP1572962.
JD421976 - Sequence 403000 from Patent EP1572962.
JD446462 - Sequence 427486 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04962 - Vasopressin-regulated water reabsorption

-  Other Names for This Gene
  Alternate Gene Symbols: AK023747
UCSC ID: uc001ykt.1
RefSeq Accession: NM_001376

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DYNC1H1:
cmt (Charcot-Marie-Tooth Hereditary Neuropathy Overview)
dync1h1-dis (DYNC1H1-Related Disorders)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK023747.1
exon count: 8CDS single in 3' UTR: no RNA size: 3580
ORF size: 1164CDS single in intron: no Alignment % ID: 99.92
txCdsPredict score: 1712.50frame shift in genome: no % Coverage: 78.44
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 923# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.