DNAH6 Gene
protein-coding GIFtS: 45
GCID: GC02P084763
|
|
dynein, axonemal, heavy chain 6(Previous names: dynein, axonemal, heavy polypeptide 6, dynein heavy chain-like...)
(Previous symbol: DNHL1)
| |
Aliases
for DNAH6 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Dynein, Axonemal, Heavy Chain 61 2 | | Axonemal Beta Dynein Heavy Chain 62 3 | | DNHL11 2 3 | | Ciliary Dynein Heavy Chain 62 3 | | HL22 3 5 | | FLJ373571 | | Dnahc61 2 | | Dynein Heavy Chain 6, Axonemal2 | | HL-21 2 | | DNAHC63 | | Dynein Heavy Chain-Like 11 2 | | KIAA16973 | | Dynein, Axonemal, Heavy Polypeptide 61 2 | | |
Export aliases for DNAH6 gene to outside databasesPrevious GC identifers: GC02P084833 GC06U900022 GC02P084827 GC02P084828 GC02P084598 |
Summaries
for DNAH6 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 DNAH6:
Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains.Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH6 is an axonemal dynein heavy chain(DHC) (Vaughan et al., 1996 (PubMed 8812413)).(supplied by OMIM, Mar 2008)
UniProtKB/Swiss-Prot: DYH6_HUMAN, Q9C0G6Function: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dyneinhas ATPase activity; the force-producing power stroke is thought to occur on release of ADP (By similarity)
|
Genomic Views
for DNAH6 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_000002.11 NC_018913.1 NT_022184.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DNAH6 gene promoter:
NF-YA NF-YC CBF-C NF-YB CBF-B CBF-A CP1C CP1A NF-Y CBF(2)
Other transcription factors
Search SABiosciences Chromatin IP Primers for DNAH6
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNAH6 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2p11.2 Ensembl cytogenetic band: 2p11.2 HGNC cytogenetic band: 2p11.2DNAH6 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02P084763: view genomic region
(about GC identifiers)
Start:
|
84,743,579 bp from pter |
End:
|
85,046,713 bp from pter |
Size:
|
303,135 bases |
Orientation:
|
plus strand |
|
Proteins
for DNAH6 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: DYH6_HUMAN, Q9C0G6 (See
protein sequence)Recommended Name: Dynein heavy chain 6, axonemal Size: 4158 amino acids; 475983 Da
Subunit: The dynein complex consists of at least two heavy chains and a number of intermediate and light chains (Bysimilarity)
Subcellular location: Cytoplasm, cytoskeleton, cilium axoneme (By similarity)
Sequence caution: Sequence=AAH15442.1; Type=Erroneous initiation; Sequence=AAX93115.1; Type=Erroneous gene modelprediction; Sequence=BAB15685.1; Type=Frameshift; Positions=3690;
Secondary accessions: A0PJN9 B5MEE0 B7ZL99 O95493 Q53QZ1 Q53TE5 Q8N1W6 Q92861 Q96BL6 Q9H030 Q9H5E1Alternative splicing: 4 isoforms: Q9C0G6-1 Q9C0G6-2 Q9C0G6-3 Q9C0G6-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for DNAH6: NX_Q9C0G6
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9C0G6
DNAH6 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001361.1
ENSEMBL proteins: ENSP00000237449 ENSP00000374045 ENSP00000381326
Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
DNAH6 for ontologies About GeneDecksing
DNAH6 Antibody Products:
Assay Products for DNAH6: |
Protein
Domains /
Families
for DNAH6 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DNAH6 for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry Q9C0G6ProtoNet protein and cluster: Q9C0G6 UniProtKB/Swiss-Prot: DYH6_HUMAN, Q9C0G6Domain: 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 function (By similarity)Similarity: Belongs to the dynein heavy chain family |
Function
for DNAH6 gene
(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: DYH6_HUMAN, Q9C0G6Function: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dyneinhas ATPase activity; the force-producing power stroke is thought to occur on release of ADP (By similarity) Genatlas biochemistry entry for DNAH6:dynein,axonemal,motor protein interacting with microtubules,heavy chain 6,involved in intracellular movement oforganelles and vesicles or in the orientation of the mitotic spindle apparatus,with ATPase activity
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAH6 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
DNAH6 for ontologies About GeneDecksing
|
Pathways & Interactions
for DNAH6 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 About this table 
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Cytoskeleton remodeling Neurofilaments | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1  EMD Millipore Pathway for DNAH6
DNAH6 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DNAH6
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/35 Interacting proteins for DNAH6 (ENSP000003740454) via UniProtKB, MINT, STRING, and/or I2D (see all 35)About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0001539 | ciliary or flagellar motility |
IEA | -- | | GO:0007018 | microtubule-based movement |
IEA | -- |
DNAH6 for ontologies About GeneDecksing
|
Drugs & Compounds
for DNAH6 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
|
 Browse Tocris compounds for DNAH6
Search CenterWatch for drugs/clinical trials and news about DNAH6 / DYH6
|
Transcripts
for DNAH6 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,
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 DNAH6 gene (2 alternative transcripts): NM_173645.1 NM_001370.1 Unigene Cluster for DNAH6: Dynein, axonemal, heavy chain 6 Hs.249972 [show with all ESTs]Unigene Representative Sequence: NM_0013706 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000476689(uc002soo.3 uc002sop.3) ENST00000468661 ENST00000237449(uc002sot.3)
ENST00000494025 ENST00000389394(uc010fgb.3) ENST00000398278(uc002sor.3)
Additional cDNA sequence: AB051484.2 AB290165.1 AJ132086.1 AK027182.1 AK094676.1 AL512706.1 BC015442.1 BC104884.1 BC113424.1 BC117259.1 BC143365.1 BC143666.1 U61736.1 15 DOTS entries: DT.65286324 DT.95117271 DT.120932232 DT.99979132 DT.91811664 DT.100000733 DT.120941426 DT.40211822 DT.120958959 DT.120970816 DT.40311177 DT.95254969 DT.99957885 DT.99958545 DT.75108812
GeneLoc Exon Structure
|
Expression
for DNAH6 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
| DNAH6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See DNAH6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DNAH6
SOURCE GeneReport for Unigene cluster: Hs.249972
UniProtKB/Swiss-Prot: DYH6_HUMAN, Q9C0G6Tissue specificity: Detected in brain, testis and trachea
SABiosciences Custom PCR Arrays for DNAH6
Primer
Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DNAH6
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DNAH6 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DNAH6 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DNAH6 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAH6 |
Orthologs
for DNAH6 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 DNAH6 gene from 3/18 species (see all 18) About this table
ENSEMBL Gene Tree for DNAH6 (if available)
TreeFam Gene Tree for DNAH6 (if available) |
Paralogs
for DNAH6 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DNAH6 gene
- DNAH52 DNAH22 DNAH82 DYNC1H12 DYNC2H12 DNAH92 DNAH32 DNAH112
- DNAH72 DNAH12 DNAH102 DNAH172
15 SIMAP similar genes for DNAH6 using alignment to 1 protein entry: DYH6_HUMAN:Dnahc3 DNAH14 Dnahc11 Dnahc9 Dnchc1 DNAH5
DNAH7 DNAH2 DNAH1 DNAH3 DNAH9 DNAH10
DNAH17 DNAH8 DNAH11
DNAH6 for paralogs About GeneDecksing
|
Genomic Variants
for DNAH6 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 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DNAH6 (84743579 - 84993579 bp, first 250kb of DNAH6)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 7 variations for DNAH6
2 CNVs: 3373 97906
5 Indels: 46052 61784 42545 26749 12082 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DNAH6 |
|
Disorders
/ Diseases
for DNAH6 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
DNAH6 for disorders About GeneDecksing
OMIM gene information: 603336
OMIM disorders: --
2  diseases for DNAH6: About MalaCardsciliary dyskinesia primary ciliary dyskinesia
Export disorders for DNAH6 gene to outside databases
|
Publications
for DNAH6 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 DNAH6 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with DNAH6) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Multiple mouse chromosomal loci for dynein-based motility. (PubMed id 8812413)1, 2, 3 Vaughan K.T....Vallee R.B. (1996)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Identification, tissue specific expression, and chromosomal localisation of several human dynein heavy chain genes. (PubMed id 11175280)1, 2 Maiti A.K....Bouvagnet P. (2000)
- Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)1, 2 Nagase T.... Ohara O. (2000)
- Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
- The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
- Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes. (PubMed id 15937072)1 Pazour G.J....Witman G.B. (2006)
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for DNAH6 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing DNAH6 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DNAH6 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing DNAH6 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 DNAH6 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for DNAH6 gene:
Search GeneIP for patents involving DNAH6
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DNAH6 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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, 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
About This Section
|
 | |
 |
| | | | |
 |
 |
|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DNAH6 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DNAH6 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNAH6 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DNAH6 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DNAH6 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DNAH6 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for DNAH6 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | DNAH6 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAH6 |
|  |  |  | | | | Search ThermoFisher Antibodies for DNAH6 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNAH6 |
|
|
|
|
