Human Gene DNAH10 (uc001uft.4) Description and Page Index
  Description: Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.
RefSeq Summary (NM_207437): Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH10 is an inner arm dynein heavy chain (Maiti et al., 2000 [PubMed 11175280]).[supplied by OMIM, Mar 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA2148874, SAMEA2158188 [ECO:0000348] ##Evidence-Data-END##
Transcript (Including UTRs)
   Position: hg19 chr12:124,247,042-124,420,267 Size: 173,226 Total Exon Count: 78 Strand: +
Coding Region
   Position: hg19 chr12:124,247,067-124,420,028 Size: 172,962 Coding Exon Count: 78 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:124,247,042-124,420,267)mRNA (may differ from genome)Protein (4471 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: DYH10_HUMAN
DESCRIPTION: RecName: Full=Dynein heavy chain 10, axonemal; AltName: Full=Axonemal beta dynein heavy chain 10; AltName: Full=Ciliary dynein heavy chain 10;
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. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity). Probable inner arm dynein heavy chain.
SUBUNIT: Consists of at least two heavy chains and a number of intermediate and light chains.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme (Potential).
TISSUE SPECIFICITY: Expressed primarily in trachea and testis, 2 tissues containing axonemal structures. Also expressed in brain but not in adult heart.
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.
SIMILARITY: Contains 5 TPR repeats.
SEQUENCE CAUTION: Sequence=BAC04579.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC86296.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DNAH10
CDC HuGE Published Literature: DNAH10
Positive Disease Associations: Waist Circumference
Related Studies:
  1. Waist Circumference
    , , . [PubMed 0]
  2. Waist Circumference
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: DNAH10
Diseases sorted by gene-association score: primary ciliary dyskinesia (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 3.71 RPKM in Testis
Total median expression: 12.31 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 -1.5025-0.060 Picture PostScript Text
3' UTR -57.31239-0.240 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
IPR024743 - Dynein_HC_stalk
IPR024317 - Dynein_heavy_chain_D4_dom
IPR004273 - Dynein_heavy_dom
IPR013594 - Dynein_heavy_dom-1
IPR013602 - Dynein_heavy_dom-2

Pfam Domains:
PF03028 - Dynein heavy chain and region D6 of dynein motor
PF07728 - AAA domain (dynein-related subfamily)
PF08385 - Dynein heavy chain, N-terminal region 1
PF08393 - Dynein heavy chain, N-terminal region 2
PF12774 - Hydrolytic ATP binding site of dynein motor region D1
PF12775 - P-loop containing dynein motor region D3
PF12777 - Microtubule-binding stalk of dynein motor
PF12780 - P-loop containing dynein motor region D4
PF12781 - ATP-binding dynein motor region D5

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q8IVF4
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-  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 orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  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:0007018 microtubule-based movement

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


-  Descriptions from all associated GenBank mRNAs
  AB290168 - Homo sapiens mRNA for DNAH10/KIAA2017 variant protein, partial cds.
AB095937 - Homo sapiens mRNA for KIAA2017 protein, partial cds.
AK095581 - Homo sapiens cDNA FLJ38262 fis, clone FCBBF3001594, moderately similar to Chlamydomonas reinhardtii dhc1 gene for 1-alpha dynein heavy chain.
AK125475 - Homo sapiens cDNA FLJ43486 fis, clone OCBBF3003592, weakly similar to Dynein beta chain, flagellar outer arm.
BC144575 - Homo sapiens dynein, axonemal, heavy chain 10, mRNA (cDNA clone IMAGE:9053104), complete cds.
BC150622 - Homo sapiens dynein, axonemal, heavy chain 10, mRNA (cDNA clone IMAGE:9056992), complete cds.
AK125796 - Homo sapiens cDNA FLJ43808 fis, clone TESTI4001148, weakly similar to Dynein beta chain, ciliary.
AJ132089 - Homo sapiens mRNA for axonemal dynein heavy chain (DNAH10), partial.
AK091526 - Homo sapiens cDNA FLJ34207 fis, clone FCBBF3020163, moderately similar to Chlamydomonas reinhardtii dhc1 gene for 1-alpha dynein heavy chain.
AX747039 - Sequence 564 from Patent EP1308459.
JD147429 - Sequence 128453 from Patent EP1572962.
JD267953 - Sequence 248977 from Patent EP1572962.
JD449524 - Sequence 430548 from Patent EP1572962.
JD354681 - Sequence 335705 from Patent EP1572962.
JD182585 - Sequence 163609 from Patent EP1572962.
JD246162 - Sequence 227186 from Patent EP1572962.
JD392865 - Sequence 373889 from Patent EP1572962.
JD467411 - Sequence 448435 from Patent EP1572962.
JD224500 - Sequence 205524 from Patent EP1572962.
JD358189 - Sequence 339213 from Patent EP1572962.
JD229013 - Sequence 210037 from Patent EP1572962.
JD424269 - Sequence 405293 from Patent EP1572962.
JD096234 - Sequence 77258 from Patent EP1572962.
JD340376 - Sequence 321400 from Patent EP1572962.
JD174412 - Sequence 155436 from Patent EP1572962.
JD490490 - Sequence 471514 from Patent EP1572962.
JD566377 - Sequence 547401 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: C9JMF5, DYH10_HUMAN, KIAA2017, NM_207437, NP_997320, O95495, Q6ZUC9, Q6ZUP6, Q8IVF4, Q8N761
UCSC ID: uc001uft.4
RefSeq Accession: NM_207437
Protein: Q8IVF4 (aka DYH10_HUMAN)
CCDS: CCDS9255.2

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_207437.3
exon count: 78CDS single in 3' UTR: no RNA size: 13716
ORF size: 13416CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 22562.00frame shift in genome: no % Coverage: 99.74
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.