Human Gene DNAH5 (ENST00000265104.5) from GENCODE V38
  Description: Homo sapiens dynein axonemal heavy chain 5 (DNAH5), mRNA. (from RefSeq NM_001369)
RefSeq Summary (NM_001369): This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000265104.5
Gencode Gene: ENSG00000039139.11
Transcript (Including UTRs)
   Position: hg38 chr5:13,690,328-13,944,688 Size: 254,361 Total Exon Count: 79 Strand: -
Coding Region
   Position: hg38 chr5:13,691,984-13,944,438 Size: 252,455 Coding Exon Count: 79 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesGeneReviewsMethods
Data last updated at UCSC: 2021-09-27 09:51:20

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:13,690,328-13,944,688)mRNA (may differ from genome)Protein (4624 aa)
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Wikipedia

-  Comments and Description Text from UniProtKB
  ID: DYH5_HUMAN
DESCRIPTION: RecName: Full=Dynein heavy chain 5, axonemal; AltName: Full=Axonemal beta dynein heavy chain 5; AltName: Full=Ciliary dynein heavy chain 5;
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. Required for structural and functional integrity of the cilia of ependymal cells lining the brain ventricles.
SUBUNIT: Consists of at least two heavy chains and a number of intermediate and light chains.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme.
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.
DISEASE: Defects in DNAH5 are the cause of primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]. CILD3 is an autosomal recessive disorder characterized by axonemal abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
DISEASE: Defects in DNAH5 are a cause of Kartagener syndrome (KTGS) [MIM:244400]. KTGS is an autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera).
SIMILARITY: Belongs to the dynein heavy chain family.
SEQUENCE CAUTION: Sequence=BAB15543.1; Type=Erroneous initiation;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DNAH5";

-  MalaCards Disease Associations
  MalaCards Gene Search: DNAH5
Diseases sorted by gene-association score: ciliary dyskinesia, primary, 3, with or without situs inversus* (1200), primary ciliary dyskinesia* (318), kartagener syndrome* (315), ciliary dyskinesia, primary, 1, with or without situs inversus* (100), primary ciliary dyskinesia 3: dnah5-related primary ciliary dyskinesia* (100), bronchiectasis (15), situs inversus (9), right atrial isomerism (7), visceral heterotaxy (6), cri-du-chat syndrome (5), retinitis pigmentosa (2)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.60 RPKM in Pituitary
Total median expression: 9.73 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -71.60250-0.286 Picture PostScript Text
3' UTR -370.201656-0.224 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
IPR026978 - DNAH5
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:
PF07728 - AAA domain (dynein-related subfamily)
PF12780 - P-loop containing dynein motor region D4
PF08385 - Dynein heavy chain, N-terminal region 1
PF08393 - Dynein heavy chain, N-terminal region 2
PF03028 - Dynein heavy chain and region D6 of dynein motor
PF12777 - Microtubule-binding stalk of dynein motor

ModBase Predicted Comparative 3D Structure on Q8TE73
FrontTopSide
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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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
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:0003341 cilium movement
GO:0007018 microtubule-based movement
GO:0007368 determination of left/right symmetry
GO:0030317 flagellated sperm motility
GO:0036158 outer dynein arm assembly
GO:0060271 cilium assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005929 cilium
GO:0005930 axoneme
GO:0030286 dynein complex
GO:0036157 outer dynein arm
GO:0042995 cell projection
GO:0097729 9+2 motile cilium


-  Descriptions from all associated GenBank mRNAs
  AB046823 - Homo sapiens mRNA for KIAA1603 protein, partial cds.
AB290164 - Homo sapiens mRNA for DNAH5/KIAA1603 variant protein, partial cds.
AK128600 - Homo sapiens cDNA FLJ46759 fis, clone TRACH3023960, moderately similar to Homo sapiens dynein, axonemal, heavy polypeptide 8 (DNAH8).
AX800026 - Sequence 1 from Patent EP1327684.
AY045575 - Homo sapiens axonemal dynein heavy chain DNAH5 mRNA, complete cds.
BC172189 - Synthetic construct Homo sapiens clone IMAGE:9094278 dynein, axonemal, heavy chain 5 (DNAH5) gene, partial cds.
BC172186 - Synthetic construct Homo sapiens clone IMAGE:9094275 dynein, axonemal, heavy chain 5 (DNAH5) gene, partial cds.
AK026756 - Homo sapiens cDNA: FLJ23103 fis, clone LNG07621.
BC172188 - Synthetic construct Homo sapiens clone IMAGE:9094277 dynein, axonemal, heavy chain 5 (DNAH5) gene, partial cds.
AY049075 - Homo sapiens dynein heavy chain (DNAH5) mRNA, partial cds.
U61735 - Human clone 1 (HL-1), dynein heavy chain (Dnahc5) mRNA, partial cds.
BC172187 - Synthetic construct Homo sapiens clone IMAGE:9094276 dynein, axonemal, heavy chain 5 (DNAH5) gene, partial cds.
AK055138 - Homo sapiens cDNA FLJ30576 fis, clone BRAWH2006622, weakly similar to DYNEIN GAMMA CHAIN, FLAGELLAR OUTER ARM.
AY050643 - Homo sapiens dynein heavy chain mRNA, partial cds.
JD420586 - Sequence 401610 from Patent EP1572962.
JD117328 - Sequence 98352 from Patent EP1572962.
JD436350 - Sequence 417374 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: DNAHC5, DYH5_HUMAN, ENST00000265104.1, ENST00000265104.2, ENST00000265104.3, ENST00000265104.4, HL1, KIAA1603, NM_001369, Q8TE73, Q92860, Q96L74, Q9H5S7, Q9HCG9, uc003jfd.1, uc003jfd.2, uc003jfd.3, uc003jfd.4, uc003jfd.5
UCSC ID: ENST00000265104.5
RefSeq Accession: NM_001369
Protein: Q8TE73 (aka DYH5_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DNAH5:
pcd (Primary Ciliary Dyskinesia)

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