Human Gene DNAH6 (ENST00000389394.8_4) from GENCODE V47lift37
  Description: dynein axonemal heavy chain 6 (from RefSeq NM_001370.2)
Gencode Transcript: ENST00000389394.8_4
Gencode Gene: ENSG00000115423.19_8
Transcript (Including UTRs)
   Position: hg19 chr2:84,743,622-85,046,713 Size: 303,092 Total Exon Count: 77 Strand: +
Coding Region
   Position: hg19 chr2:84,744,951-85,046,532 Size: 301,582 Coding Exon Count: 76 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:84,743,622-85,046,713)mRNA (may differ from genome)Protein (4158 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DYH6_HUMAN
DESCRIPTION: RecName: Full=Dynein heavy chain 6, axonemal; AltName: Full=Axonemal beta dynein heavy chain 6; AltName: Full=Ciliary dynein heavy chain 6;
FUNCTION: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP (By similarity).
SUBUNIT: The dynein complex consists of at least two heavy chains and a number of intermediate and light chains (By similarity).
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme (By similarity).
TISSUE SPECIFICITY: Detected in brain, testis and trachea.
DOMAIN: Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly- linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function (By similarity).
SIMILARITY: Belongs to the dynein heavy chain family.
SEQUENCE CAUTION: Sequence=AAH15442.1; Type=Erroneous initiation; Sequence=AAX93115.1; Type=Erroneous gene model prediction; Sequence=BAB15685.1; Type=Frameshift; Positions=3690;

-  Primer design for this transcript
 

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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.
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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


-  MalaCards Disease Associations
  MalaCards Gene Search: DNAH6
Diseases sorted by gene-association score: heterotaxy (9), primary ciliary dyskinesia (4)

+  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: 3.32 RPKM in Testis
Total median expression: 16.20 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 -24.3094-0.259 Picture PostScript Text
3' UTR -34.30181-0.190 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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003593 - AAA+_ATPase
IPR011704 - ATPase_dyneun-rel_AAA
IPR026983 - DHC_fam
IPR026980 - DNAH6
IPR024743 - Dynein_HC_stalk
IPR024317 - Dynein_heavy_chain_D4_dom
IPR004273 - Dynein_heavy_dom
IPR013602 - Dynein_heavy_dom-2

Pfam Domains:
PF03028 - Dynein heavy chain region D6 P-loop domain
PF07728 - AAA domain (dynein-related subfamily)
PF08393 - Dynein heavy chain, N-terminal region 2
PF12774 - Hydrolytic ATP binding site of dynein motor region
PF12775 - P-loop containing dynein motor region
PF12777 - Microtubule-binding stalk of dynein motor
PF12780 - P-loop containing dynein motor region D4
PF12781 - ATP-binding dynein motor region
PF17852 - Dynein heavy chain AAA lid domain
PF17857 - AAA+ lid domain
PF18198 - Dynein heavy chain AAA lid domain
PF18199 - Dynein heavy chain C-terminal domain

SCOP Domains:
46894 - C-terminal effector domain of the bipartite response regulators
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like

ModBase Predicted Comparative 3D Structure on Q9C0G6
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003774 motor activity
GO:0003777 microtubule motor activity
GO:0005524 ATP binding
GO:0008569 ATP-dependent microtubule motor activity, minus-end-directed
GO:0016887 ATPase activity
GO:0045503 dynein light chain binding
GO:0045505 dynein intermediate chain binding
GO:0051959 dynein light intermediate chain binding

Biological Process:
GO:0001539 cilium or flagellum-dependent cell motility
GO:0007018 microtubule-based movement
GO:0060271 cilium assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005858 axonemal dynein complex
GO:0005874 microtubule
GO:0005929 cilium
GO:0030286 dynein complex
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AB290165 - Homo sapiens mRNA for DNAH6/KIAA1697 variant protein, partial cds.
AB051484 - Homo sapiens mRNA for KIAA1697 protein, partial cds.
BC117259 - Homo sapiens dynein, axonemal, heavy chain 6, mRNA (cDNA clone IMAGE:40125810), partial cds.
BC143365 - Homo sapiens cDNA clone IMAGE:9051870, containing frame-shift errors.
JF432885 - Synthetic construct Homo sapiens clone IMAGE:100074208 dynein, axonemal, heavy chain 6 (DNAH6) gene, encodes complete protein.
AK094676 - Homo sapiens cDNA FLJ37357 fis, clone BRAMY2023060.
BC113424 - Homo sapiens dynein, axonemal, heavy chain 6, mRNA (cDNA clone IMAGE:8322476), complete cds.
BC104884 - Homo sapiens dynein, axonemal, heavy chain 6, mRNA (cDNA clone IMAGE:8143887), complete cds.
BC143666 - Homo sapiens dynein, axonemal, heavy chain 6, mRNA (cDNA clone IMAGE:9052180), complete cds.
HQ258424 - Synthetic construct Homo sapiens clone IMAGE:100072853 Unknown protein gene, encodes complete protein.
KJ901391 - Synthetic construct Homo sapiens clone ccsbBroadEn_10785 DNAH6 gene, encodes complete protein.
JD461963 - Sequence 442987 from Patent EP1572962.
JD313971 - Sequence 294995 from Patent EP1572962.
U61736 - Human clone 2 (HL-2), dynein heavy chain (Dnahc6) mRNA, partial cds.
AJ132086 - Homo sapiens mRNA for axonemal dynein heavy chain (DNAH6), partial.
BC015442 - Homo sapiens dynein, axonemal, heavy chain 6, mRNA (cDNA clone IMAGE:4424085), complete cds.
KJ901390 - Synthetic construct Homo sapiens clone ccsbBroadEn_10784 DNAH6 gene, encodes complete protein.
AL512706 - Homo sapiens mRNA; cDNA DKFZp667K087 (from clone DKFZp667K087).
AK027182 - Homo sapiens cDNA: FLJ23529 fis, clone LNG06042.
JD130189 - Sequence 111213 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_Lis1Pathway - Lissencephaly gene (LIS1) in neuronal migration and development

-  Other Names for This Gene
  Alternate Gene Symbols: A0PJN9, B5MEE0, B7ZL99, DNAH6 , DNAHC6, DNHL1, DYH6_HUMAN, ENST00000389394.1, ENST00000389394.2, ENST00000389394.3, ENST00000389394.4, ENST00000389394.5, ENST00000389394.6, ENST00000389394.7, HL2, KIAA1697, NM_001370, O95493, Q53QZ1, Q53TE5, Q8N1W6, Q92861, Q96BL6, Q9C0G6, Q9H030, Q9H5E1, uc318tev.1, uc318tev.2
UCSC ID: ENST00000389394.8_4
RefSeq Accession: NM_001370.2
Protein: Q9C0G6 (aka DYH6_HUMAN)

-  Gene Model Information
  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.