Q8TD57 (DYH3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 84.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Dynein heavy chain 3, axonemal Alternative name(s): Axonemal beta dynein heavy chain 3 Short name=HsADHC3 Ciliary dynein heavy chain 3 Dnahc3-b | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 4116 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| 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. |
| Subunit structure | 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 lung. Ref.6 |
| 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. |
| Sequence similarities | Belongs to the dynein heavy chain family. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8TD57-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q8TD57-2) The sequence of this isoform differs from the canonical sequence as follows: 1-39: MGATGRLELTLAAPPHPGPAFQRSKARETQGEEEGSEMQ → MGDMDCSSQK 528-566: KLKYIPLKFSFTAAAADRQCVKAAEPGEPSMHAAATAMA → KVESVLFP 762-762: Y → YEDIKLNSTLFLWPD 790-799: CSEFELRLEG → YRESLGLSWK 800-4116: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q8TD57-3) The sequence of this isoform differs from the canonical sequence as follows: 1883-1887: VNDMF → MKSGQ 1888-4116: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 4116 | 4116 | Dynein heavy chain 3, axonemal | PRO_0000322544 | |||||
Regions | |||||||||
| Nucleotide binding | 1429 – 1436 | 8 | ATP Potential | ||||||
| Nucleotide binding | 1710 – 1717 | 8 | ATP Potential | ||||||
| Nucleotide binding | 2074 – 2081 | 8 | ATP Potential | ||||||
| Nucleotide binding | 2434 – 2441 | 8 | ATP Potential | ||||||
| Region | 1 – 1390 | 1390 | Stem By similarity | ||||||
| Region | 1391 – 1612 | 222 | AAA 1 By similarity | ||||||
| Region | 1672 – 1903 | 232 | AAA 2 By similarity | ||||||
| Region | 2036 – 2284 | 249 | AAA 3 By similarity | ||||||
| Region | 2395 – 2646 | 252 | AAA 4 By similarity | ||||||
| Region | 2661 – 2960 | 300 | Stalk By similarity | ||||||
| Region | 3045 – 3275 | 231 | AAA 5 By similarity | ||||||
| Region | 3488 – 3712 | 225 | AAA 6 By similarity | ||||||
| Coiled coil | 785 – 852 | 68 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 3614 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 3617 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 39 | 39 | MGATG…GSEMQ → MGDMDCSSQK in isoform 2. | VSP_031919 | |||||
| Alternative sequence | 528 – 566 | 39 | KLKYI…ATAMA → KVESVLFP in isoform 2. | VSP_031920 | |||||
| Alternative sequence | 762 | 1 | Y → YEDIKLNSTLFLWPD in isoform 2. | VSP_031921 | |||||
| Alternative sequence | 790 – 799 | 10 | CSEFELRLEG → YRESLGLSWK in isoform 2. | VSP_031922 | |||||
| Alternative sequence | 800 – 4116 | 3317 | Missing in isoform 2. | VSP_031923 | |||||
| Alternative sequence | 1883 – 1887 | 5 | VNDMF → MKSGQ in isoform 3. | VSP_031924 | |||||
| Alternative sequence | 1888 – 4116 | 2229 | Missing in isoform 3. | VSP_031925 | |||||
| Natural variant | 484 | 1 | I → L in a colorectal cancer sample; somatic mutation. Ref.10 | VAR_039412 | |||||
| Natural variant | 545 | 1 | R → W. Corresponds to variant rs16970910 [ dbSNP | Ensembl ]. | VAR_039413 | |||||
| Natural variant | 1565 | 1 | I → M. Corresponds to variant rs330150 [ dbSNP | Ensembl ]. | VAR_039414 | |||||
| Natural variant | 1583 | 1 | V → I. Corresponds to variant rs16970832 [ dbSNP | Ensembl ]. | VAR_039415 | |||||
| Natural variant | 1608 | 1 | S → F in a colorectal cancer sample; somatic mutation. Ref.10 | VAR_039416 | |||||
| Natural variant | 1752 | 1 | T → M. Corresponds to variant rs13332291 [ dbSNP | Ensembl ]. | VAR_039417 | |||||
| Natural variant | 2399 | 1 | I → N. Corresponds to variant rs34179606 [ dbSNP | Ensembl ]. | VAR_039418 | |||||
| Natural variant | 2804 | 1 | I → V. Corresponds to variant rs12929546 [ dbSNP | Ensembl ]. | VAR_039419 | |||||
| Natural variant | 2949 | 1 | K → T. Corresponds to variant rs33928718 [ dbSNP | Ensembl ]. | VAR_039420 | |||||
| Natural variant | 3457 | 1 | E → K. Corresponds to variant rs3743695 [ dbSNP | Ensembl ]. | VAR_039421 | |||||
| Natural variant | 3639 | 1 | L → I. Corresponds to variant rs34771199 [ dbSNP | Ensembl ]. | VAR_039422 | |||||
| Natural variant | 3645 | 1 | R → C. Corresponds to variant rs12924551 [ dbSNP | Ensembl ]. | VAR_039423 | |||||
| Natural variant | 3744 | 1 | R → W. Corresponds to variant rs2301620 [ dbSNP | Ensembl ]. | VAR_039424 | |||||
Experimental info | |||||||||
| Sequence conflict | 1393 | 1 | Y → F in CAA10558. Ref.4 | ||||||
| Sequence conflict | 1441 | 1 | D → V in CAB06059. Ref.5 | ||||||
| Sequence conflict | 1601 – 1604 | 4 | YGMR → FGLH in CAB06059. Ref.5 | ||||||
| Sequence conflict | 3828 | 1 | Q → M in CAB46377. Ref.8 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "DNAH3: characterization of the full length gene and mutation search in patients with primary ciliary dyskinesia." Blouin J.-L., Gehrig C., Jeganathan D., Bartoloni L., Rossier C., Duriaux Sail G., Scamuffa N., Mitchison H.M., DeLozier Blanchet C.D., Antonarakis S.E. Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). |
| [3] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "Chromosomal localization of human dynein heavy chain genes." Maiti A.K., Mattei M.-G., Jorissen M., Volz A., Ziegler A., Bouvagnet P. Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1391-1533 (ISOFORM 1), NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1435-1449. Tissue: Nasal polyp. |
| [5] | "Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene." Neesen J., Koehler M.R., Kirschner R., Steinlein C., Kreutzberger J., Engel W., Schmid M. Gene 200:193-202(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1429-1605 (ISOFORM 1). Tissue: Testis. |
| [6] | "Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment." Chapelin C., Duriez B., Magnino F., Goossens M., Escudier E., Amselem S. FEBS Lett. 412:325-330(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1429-1478, TISSUE SPECIFICITY. |
| [7] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1574-4116 (ISOFORM 3). Tissue: Ovary. |
| [8] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3152-4116 (ISOFORM 1). Tissue: Testis. |
| [9] | "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q." Loftus B.J., Kim U.-J., Sneddon V.P., Kalush F., Brandon R., Fuhrmann J., Mason T., Crosby M.L., Barnstead M., Cronin L., Mays A.D., Cao Y., Xu R.X., Kang H.-L., Mitchell S., Eichler E.E., Harris P.C., Venter J.C., Adams M.D. Genomics 60:295-308(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] OF 3544-4116. |
| [10] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] LEU-484 AND PHE-1608. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF494040 mRNA. Translation: AAM12861.1. AK056509 mRNA. Translation: BAE46616.1. CH471228 Genomic DNA. Translation: EAW66851.1. AJ132085 mRNA. Translation: CAA10558.1. AJ132092 Genomic DNA. Translation: CAA10565.1. Z83805 mRNA. Translation: CAB06059.1. U83574 Genomic DNA. Translation: AAB82763.1. BC019878 mRNA. Translation: AAH19878.1. AL096732 mRNA. Translation: CAB46377.1. AC002394 Genomic DNA. Translation: AAC05809.1. |
| IPI | IPI00152462. IPI00743808. IPI00885160. |
| PIR | T12545. |
| RefSeq | NP_060009.1. NM_017539.1. |
| UniGene | Hs.526500. |
3D structure databases | |
| ProteinModelPortal | Q8TD57. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8TD57. 1 interaction. |
PTM databases | |
| PhosphoSite | Q8TD57. |
Polymorphism databases | |
| DMDM | 74762616. |
Proteomic databases | |
| PaxDb | Q8TD57. |
| PRIDE | Q8TD57. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000261383; ENSP00000261383; ENSG00000158486. ENST00000415178; ENSP00000394245; ENSG00000158486. |
| GeneID | 55567. |
| KEGG | hsa:55567. |
| UCSC | uc002die.2. human. uc010vbe.2. human. |
Organism-specific databases | |
| CTD | 55567. |
| GeneCards | GC16M020944. |
| HGNC | HGNC:2949. DNAH3. |
| MIM | 603334. gene. |
| neXtProt | NX_Q8TD57. |
| PharmGKB | PA27402. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5245. |
| HOVERGEN | HBG107830. |
| InParanoid | Q8TD57. |
| KO | K10408. |
| OMA | SEEWMNG. |
| OrthoDB | EOG4K6G38. |
| PhylomeDB | Q8TD57. |
Gene expression databases | |
| Bgee | Q8TD57. |
| Genevestigator | Q8TD57. |
Family and domain databases | |
| InterPro | IPR003593. AAA+_ATPase. IPR026983. DHC_fam. IPR026977. DNAH3. IPR024743. Dynein_HC_stalk. IPR024317. Dynein_heavy_chain_D4_dom. IPR004273. Dynein_heavy_dom. IPR013602. Dynein_heavy_dom-2. [Graphical view] |
| PANTHER | PTHR10676. PTHR10676. 1 hit. PTHR10676:SF21. PTHR10676:SF21. 1 hit. |
| Pfam | PF12780. AAA_8. 1 hit. PF08393. DHC_N2. 1 hit. PF03028. Dynein_heavy. 1 hit. PF12777. MT. 1 hit. [Graphical view] |
| SMART | SM00382. AAA. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 55567. |
| NextBio | 60052. |
| SOURCE | Search... |
Entry information
| Entry name | DYH3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8TD57 Secondary accession number(s): O00437 Q9UG35 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 16 Human chromosome 16: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
