DYNC1H1 Gene
protein-coding GIFtS: 61
GCID: GC14P102430
|
|
dynein, cytoplasmic 1, heavy chain 1(Previous names: dynein, cytoplasmic, heavy polypeptide 1 )
(Previous symbols: DNECL, DNCL, DNCH1)
| |
Aliases
for DYNC1H1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Dynein, Cytoplasmic 1, Heavy Chain 11 2 | | P221 | | DNCL1 2 3 5 | | Dynein Heavy Chain, Cytosolic2 3 | | DNECL1 2 3 5 | | DYHC2 3 | | DHC11 2 3 | | DHC1a2 | | DNCH11 2 3 | | Cytoplasmic Dynein 1 Heavy Chain 12 | | Dnchc11 2 | | KIAA03253 | | HL-31 2 | | Cytoplasmic Dynein Heavy Chain 13 | | Dynein, Cytoplasmic, Heavy Polypeptide 11 2 | | |
Export aliases for DYNC1H1 gene to outside databasesPrevious GC identifers: GC14P101501 GC14P101502 GC14P082609 |
Summaries
for DYNC1H1 gene(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 DYNC1H1:
Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into twosubgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, includingretrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventionalcytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This geneencodes a member of the cytoplasmic dynein heavy chain family. (provided by RefSeq, Oct 2008)
UniProtKB/Swiss-Prot: DYHC1_HUMAN, Q14204Function: Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organellesalong microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP
Gene Wiki entry for DYNC1H1
|
Genomic Views
for DYNC1H1 gene
(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_000014.8 NC_018925.1 NT_026437.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DYNC1H1 gene promoter:
GR Pbx1a GR-beta CBF-C Arnt CBF-B CBF-A CP1A GR-alpha CBF(2)
Other transcription factors
Search SABiosciences Chromatin IP Primers for DYNC1H1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DYNC1H1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 14q32 Ensembl cytogenetic band: 14q32.31 HGNC cytogenetic band: 14q32.31DYNC1H1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 14 GeneLoc Exon Structure GeneLoc location for GC14P102430: view genomic region
(about GC identifiers)
Start:
|
102,430,865 bp from pter |
End:
|
102,517,135 bp from pter |
Size:
|
86,271 bases |
Orientation:
|
plus strand |
|
Proteins
for DYNC1H1 gene
(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: DYHC1_HUMAN, Q14204 (See
protein sequence)Recommended Name: Cytoplasmic dynein 1 heavy chain 1 Size: 4646 amino acids; 532408 Da
Subunit: Homodimer. The cytoplasmic dynein 1 complex consists of two catalytic heavy chains (HCs) and a number ofnon-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 asa scaffold for the probable homodimeric assembly of the respective non-catalytic subunits. The ICs and LICs binddirectly to the HC dimer and dynein LCs assemble on the IC dimer. Interacts with DYNC1LI1; DYNC1LI1 and DYNC1LI2 bindmutually exclusive to DYNC1H1. Interacts with DYNC1LI2; DYNC1LI1 and DYNC1LI2 bind mutually exclusive to DYNC1H1.Interacts with DYNC1I2 (By similarity)
Subcellular location: Cytoplasm, cytoskeleton
Sequence caution: Sequence=BAA20783.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from  and Proteopedia  for DYNC1H1:2BOR (3D)
2BOT (3D)
Secondary accessions: B0I1R0 Q6DKQ7 Q8WU28 Q92814 Q9Y4G5Explore the universe of human proteins at neXtProt for DYNC1H1: NX_Q14204
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q14204
DYNC1H1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001367.2
ENSEMBL proteins: ENSP00000348965 ENSP00000450674 Reactome Protein details: Q14204
Human Recombinant Protein Products for DYNC1H1:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
DYNC1H1 for ontologies About GeneDecksing
DYNC1H1 Antibody Products:
Assay Products for DYNC1H1: |
Protein
Domains /
Families
for DYNC1H1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DYNC1H1 for domains About GeneDecksing
5/9 InterPro domains/families (see all 9):Graphical View of Domain Structure for InterPro Entry Q14204ProtoNet protein and cluster: Q14204 3 Blocks protein families: IPB004273 Dynein heavy chain IPB011704 ATPase associated with various cellular activities IPB013594 Dynein heavy chain
UniProtKB/Swiss-Prot: DYHC1_HUMAN, Q14204Domain: Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dyneincomponents), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which forma ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 andterminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whetherthe N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPasesites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve aregulatory functionSimilarity: Belongs to the dynein heavy chain family |
Function
for DYNC1H1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: DYHC1_HUMAN, Q14204Function: Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organellesalong microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
DYNC1H1 for ontologies About GeneDecksing
Phenotypes:
2 GenomeRNAi human phenotypes for DYNC1H1:
6 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Dync1h1):
DYNC1H1 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Dync1h1tm1Noh for DYNC1H1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DYNC1H1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DYNC1H1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: DYNC1H1 (NM_001376) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DYNC1H1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DYNC1H1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DYNC1H1 |
|
Pathways & Interactions
for DYNC1H1 gene
(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 - 5/10 super-pathways (see all 10) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Recruitment of mitotic centrosome proteins and complexes | | | 2 | Cell cycle_Spindle assembly and chromosome separation | | | 3 | Immune System | | | 4 | Cell Cycle | | | 5 | MHC class II antigen presentation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for DYNC1H1
2  GeneGo (Thomson Reuters) Pathways for DYNC1H1
1  BioSystems Pathway for DYNC1H1
5/12 
Reactome Pathways for DYNC1H1 (see all 12)
2 
Kegg Pathways (Kegg details for DYNC1H1):
DYNC1H1 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DYNC1H1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/995 Interacting proteins for DYNC1H1 (Q142041, 2, 3 ENSP000003489654) via UniProtKB, MINT, STRING, and/or I2D (see all 995)About this table
Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table
DYNC1H1 for ontologies About GeneDecksing
|
Drugs & Compounds
for DYNC1H1 gene(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
|
DYNC1H1 for compounds About GeneDecksing
 Browse Tocris compounds for DYNC1H1
1 Novoseek chemical compound relationship for DYNC1H1 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| atp |
23.7 |
2 |
11972777 (1), 12686593 (1) |
Search CenterWatch for drugs/clinical trials and news about DYNC1H1 / DYHC1
|
Transcripts
for DYNC1H1 gene(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,
Sirion Biotech,
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 DYNC1H1 gene: NM_001376.4 Unigene Cluster for DYNC1H1: Dynein, cytoplasmic 1, heavy chain 1 Hs.614080 [show with all ESTs]Unigene Representative Sequence: NM_00137611 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000360184(uc001ykt.1 uc001yks.2) ENST00000555204 ENST00000554854
ENST00000556791 ENST00000553423 ENST00000555800 ENST00000556139 ENST00000556499
ENST00000555102 ENST00000556229 ENST00000555062
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DYNC1H1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DYNC1H1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DYNC1H1 (NM_001376) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DYNC1H1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DYNC1H1 |
Additional cDNA sequence: AB002323.3 AB290157.1 AF234785.1 AK023747.1 AK095415.1 AK096165.1 AK299878.1 AL833600.1 BC021297.1 BC064521.1 BX648670.1 L23958.1 U53530.1 U61737.1 24/39 DOTS entries (see all 39): DT.447422 DT.75184647 DT.100031542 DT.99940286 DT.97821051 DT.99934863 DT.406169 DT.95362311 DT.120754891 DT.100031535 DT.91730917 DT.102836418 DT.319086 DT.75176618 DT.97761859 DT.92049623 DT.100878446 DT.120754954 DT.100726385 DT.120754887 DT.91881663 DT.100878454 DT.120754866 DT.120754874 24/753 AceView cDNA sequences (see all 753): AU140980 AA482514 BF431636 W80389 CF995771 AI378410 AI139963 BQ573900 CF142609 BE787483 BQ446737 BE794473 BQ019327 CF143630 BU846389 BM980458 BF333718 AA417883 BU163785 BX414467 BQ884091 AW471492 AW138868 AW249663
GeneLoc Exon Structure
5/18 Alternative Splicing Database (ASD) splice patterns (SP) for DYNC1H1 (see all 18) About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30a | · | 30b | · | 30c | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38a | · | 38b | ^ | 39 | ^ | 40 | ^ | 41 | ^ | 42 | ^ | 43 | ^ | 44 | ^ | 45 | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 46 | ^ | 47 | ^ | 48 | ^ | 49 | ^ | 50 | ^ | 51 | ^ | 52 | ^ | 53 | ^ | 54 | ^ | 55 | ^ | 56 | ^ | 57 | ^ | 58a | · | 58b | ^ | 59 | ^ | 60 | ^ | 61a | · | 61b | ^ | 62 | ^ | 63a | · | 63b | · | 63c | ^ | 64a | · | 64b | ^ | 65 | ^ | 66 | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 67 | ^ | 68 | ^ | 69 | ^ | 70 | ^ | 71a | · | 71b | ^ | 72 | ^ | 73 | ^ | 74 | ^ | 75 | ^ | 76 | ^ | 77a | · | 77b | · | 77c | ^ | 78a | · | 78b | ^ | 79 | ^ | 80 | ^ | 81 | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | - | | | | | | | | - | | - | | | | | | - | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for DYNC1H1
|
Expression
for DYNC1H1 gene
(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
| DYNC1H1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGCCGGCAAA
About this image
See DYNC1H1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DYNC1H1
SOURCE GeneReport for Unigene cluster: Hs.614080
SABiosciences Custom PCR Arrays for DYNC1H1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DYNC1H1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DYNC1H1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DYNC1H1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DYNC1H1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DYNC1H1 |
Orthologs
for DYNC1H1 gene
(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 animals.
Orthologs for DYNC1H1 gene from 6/29 species (see all 29) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
DYNC1H11 |
dynein, cytoplasmic 1, heavy chain 1 |
82.06(n)
97.46(a) |
|
423461 XM_421371.3 XP_421371.3 |
lizard
(Anolis carolinensis) |
Reptilia |
DYNC1H16 |
-- |
97(a) |
1 ↔ 1 |
GL343232.1(1943436-2001780) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.20532 |
Xenopus laevis transcribed sequence with weak similarity more |
76.96(n) |
|
CD328096.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
570922832 |
-- |
78.93(n) |
|
57092283 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Dhc64C1 |
Dynein heavy chain 64C |
66.33(n)
72.52(a) |
|
38580 NM_168103.2 NP_729034.2 |
worm
(Caenorhabditis elegans) |
Secernentea |
dhc-11 |
Protein DHC-1 |
57.88(n)
57.08(a) |
|
172041 NM_058962.3 NP_491363.1 |
ENSEMBL Gene Tree for DYNC1H1 (if available)
TreeFam Gene Tree for DYNC1H1 (if available) |
Paralogs
for DYNC1H1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DYNC1H1 gene
- DNAH52 DNAH22 DNAH82 DYNC2H12 DNAH92 DNAH32 DNAH112 DNAH62
- DNAH72 DNAH12 DNAH102 DNAH172
7 SIMAP similar genes for DYNC1H1 using alignment to 3 protein entries: DYHC1_HUMAN (see all proteins):Dnchc1 DNAH5 Dnahc3 Dnahc9 Dnahc11 DNAH14
DNAH11
DYNC1H1 for paralogs About GeneDecksing
|
Genomic Variants
for DYNC1H1 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 14 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DYNC1H1 (102430865 - 102517135 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DYNC1H1: --
Human Gene Mutation Database (HGMD): DYNC1H1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DYNC1H1 |
|
Disorders
/ Diseases
for DYNC1H1 gene
(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
|
DYNC1H1 for disorders About GeneDecksing
OMIM gene information: 600112
OMIM disorders: --
UniProtKB/Swiss-Prot: DYHC1_HUMAN, Q14204
Defects in DYNC1H1 are the cause of Charcot-Marie-Tooth disease type 2O (CMT2O) [MIM:614228]. CMT2O isanaxonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized byprogressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms.Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties andhistopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) andprimary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonaldegeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, andprogressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced Defects in DYNC1H1 are the cause of mental retardation autosomal dominant type 13 (MRD13) [MIM:614563]. Adisorder characterized by significantly below average general intellectual functioning associated with impairments inadaptative behavior and manifested during the developmental period. MRD13 is associated with variable neuronalmigration defects and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such asabnormal gait and hyporeflexia Defects in DYNC1H1 are the cause of spinal muscular atrophy, lower extremity, autosomal dominant (SMALED)[MIM:158600]. A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of theanterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMALED is characterized bymuscle weakness predominantly affecting the proximal lower extremities
19  diseases for DYNC1H1: About MalaCardscharcot-marie-tooth disease charcot-marie-tooth disease type 2 primary ciliary dyskinesia ciliary dyskinesia
tooth disease amyotrophic lateral sclerosis axonal neuropathy lateral sclerosis
lissencephaly neurodegeneration neuropathy myeloma
schizophrenia malaria neuronitis spinal muscular atrophy
spinal muscular atrophy, lower extremity, autosomal dominant muscular atrophy intellectual disability
4 diseases from the University of Copenhagen DISEASES database for DYNC1H1:Primary ciliary dyskinesia Lissencephaly Amyotrophic lateral sclerosis Situs inversus 1 Novoseek disease relationship for DYNC1H1 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| neurodegeneration |
20.6 |
2 |
12730604 (1), 16546759 (1) |
Human Genome Epidemiology (HuGE) Navigator: DYNC1H1 (2 documents)
Export disorders for DYNC1H1 gene to outside databases
|
Publications
for DYNC1H1 gene (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 DYNC1H1 gene, integrated from 9 sources (see all 118):
(articles sorted by number of sources associating them with DYNC1H1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles. (PubMed id 8666668)1, 2, 3 Vaisberg E.A.... McIntosh J.R. (1996)
- Cytoplasmic dynein plays a role in mammalian mitotic spindle formation. (PubMed id 8227145)1, 2, 9 Vaisberg E.A.... McIntosh J.R. (1993)
- Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. (PubMed id 22459677)1, 2 Harms M.B....Baloh R.H. (2012)
- Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. (PubMed id 22368300)1, 2 Willemsen M.H.... Kleefstra T. (2012)
- Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. (PubMed id 21820100)1, 2 Weedon M.N....Ellard S. (2011)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- Cytoplasmic dynein nomenclature. (PubMed id 16260502)1, 3 Pfister K.K....Vallee R.B. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2 Nagase T.... Ohara O. (1997)
- Localization of the human cytoplasmic dynein heavy chain (DNECL) to 14qter by fluorescence in situ hybridization. (PubMed id 8001984)1, 9 Narayan D....Ward D.C. (1994)
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External Searches for DYNC1H1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
|
Genome Databases showing DYNC1H1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DYNC1H1 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing DYNC1H1 gene(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
|
| Name | Description |
| PharmGKB entry for DYNC1H1 | Pharmacogenomics, SNPs, Pathways | | NIEHS-SNPs | http://egp.gs.washington.edu/data/dnch1/ |
|
| | |
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| Patent Information for DYNC1H1 gene:
Search GeneIP for patents involving DYNC1H1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DYNC1H1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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