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DNAH5
HPA
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PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

DNAH5
Synonyms CILD3, Dnahc5, HL1, KTGNR, PCD
Gene descriptioni

Full gene name according to HGNC.

Dynein axonemal heavy chain 5
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Plasma proteins
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 5
Cytoband p15.2
Chromosome location (bp) 13690328 - 14011818
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

2
Ensembl ENSG00000039139 (version 109)
Entrez gene 1767
HGNC HGNC:2950
UniProt Q8TE73 (UniProt - Evidence at protein level)
neXtProt NX_Q8TE73
GeneCards DNAH5
Antibodypedia DNAH5 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

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.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Motor protein
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

ATP-binding, Nucleotide-binding
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
DNAH5-201
ENSP00000265104
ENST00000265104
Q8TE73
[Direct mapping] Dynein axonemal heavy chain 5
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Respiratory diseases
   Tracheobronchial diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0003341 [cilium movement]
GO:0003351 [epithelial cilium movement involved in extracellular fluid movement]
GO:0003777 [microtubule motor activity]
GO:0005524 [ATP binding]
GO:0005576 [extracellular region]
GO:0005737 [cytoplasm]
GO:0005856 [cytoskeleton]
GO:0005858 [axonemal dynein complex]
GO:0005874 [microtubule]
GO:0005929 [cilium]
GO:0005930 [axoneme]
GO:0007018 [microtubule-based movement]
GO:0007368 [determination of left/right symmetry]
GO:0007507 [heart development]
GO:0008569 [minus-end-directed microtubule motor activity]
GO:0021670 [lateral ventricle development]
GO:0030286 [dynein complex]
GO:0030317 [flagellated sperm motility]
GO:0031514 [motile cilium]
GO:0036157 [outer dynein arm]
GO:0036158 [outer dynein arm assembly]
GO:0042995 [cell projection]
GO:0045505 [dynein intermediate chain binding]
GO:0051649 [establishment of localization in cell]
GO:0051959 [dynein light intermediate chain binding]
GO:0060271 [cilium assembly]
GO:0097728 [9+0 motile cilium]
GO:0097729 [9+2 motile cilium]
Show all
4624 aa
529 kDa
No 0
DNAH5-206
ENSP00000505288
ENST00000681290
A0A7P0Z455
[Direct mapping] Dynein axonemal heavy chain 5
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Respiratory diseases
   Tracheobronchial diseases
Show all
GO:0000166 [nucleotide binding]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005856 [cytoskeleton]
GO:0005874 [microtubule]
GO:0005929 [cilium]
GO:0005930 [axoneme]
GO:0007018 [microtubule-based movement]
GO:0008569 [minus-end-directed microtubule motor activity]
GO:0030286 [dynein complex]
GO:0042995 [cell projection]
GO:0045505 [dynein intermediate chain binding]
GO:0051959 [dynein light intermediate chain binding]
GO:0097729 [9+2 motile cilium]
Show all
4609 aa
527.1 kDa
No 0

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