Q9NYC9 (DYH9_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 106.
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 9, axonemal Alternative name(s): Axonemal beta dynein heavy chain 9 Ciliary dynein heavy chain 9 | ||||
| Gene names |
| ||||
| 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 | 4486 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein 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. |
| Subunit structure | Consists of at least two heavy chains and a number of intermediate and light chains. |
| Subcellular location | |
| 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. |
| 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: Q9NYC9-1) 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: Q9NYC9-2) The sequence of this isoform differs from the canonical sequence as follows: 3961-4036: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q9NYC9-3) The sequence of this isoform differs from the canonical sequence as follows: 1-3688: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 4486 | 4486 | Dynein heavy chain 9, axonemal | PRO_0000114632 | |||||
Regions | |||||||||
| Nucleotide binding | 1870 – 1877 | 8 | ATP Potential | ||||||
| Nucleotide binding | 2151 – 2158 | 8 | ATP Potential | ||||||
| Nucleotide binding | 2478 – 2485 | 8 | ATP Potential | ||||||
| Nucleotide binding | 2825 – 2832 | 8 | ATP Potential | ||||||
| Region | 1 – 1831 | 1831 | Stem By similarity | ||||||
| Region | 1832 – 2053 | 222 | AAA 1 By similarity | ||||||
| Region | 2113 – 2334 | 222 | AAA 2 By similarity | ||||||
| Region | 2440 – 2688 | 249 | AAA 3 By similarity | ||||||
| Region | 2787 – 3036 | 250 | AAA 4 By similarity | ||||||
| Region | 3051 – 3341 | 291 | Stalk By similarity | ||||||
| Region | 3429 – 3656 | 228 | AAA 5 By similarity | ||||||
| Region | 3866 – 4092 | 227 | AAA 6 By similarity | ||||||
| Coiled coil | 381 – 410 | 30 | Potential | ||||||
| Coiled coil | 504 – 529 | 26 | Potential | ||||||
| Coiled coil | 639 – 662 | 24 | Potential | ||||||
| Coiled coil | 752 – 823 | 72 | Potential | ||||||
| Coiled coil | 1326 – 1355 | 30 | Potential | ||||||
| Coiled coil | 3051 – 3154 | 104 | Potential | ||||||
| Coiled coil | 3285 – 3341 | 57 | Potential | ||||||
| Coiled coil | 3640 – 3675 | 36 | Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 3688 | 3688 | Missing in isoform 3. | VSP_043443 | |||||
| Alternative sequence | 3961 – 4036 | 76 | Missing in isoform 2. | VSP_035285 | |||||
| Natural variant | 151 | 1 | R → H. Corresponds to variant rs17599639 [ dbSNP | Ensembl ]. | VAR_046312 | |||||
| Natural variant | 445 | 1 | Q → R. Ref.1 Ref.2 Corresponds to variant rs9892256 [ dbSNP | Ensembl ]. | VAR_046313 | |||||
| Natural variant | 771 | 1 | R → L in a breast cancer sample; somatic mutation. Ref.9 | VAR_036214 | |||||
| Natural variant | 842 | 1 | R → W. Corresponds to variant rs16945138 [ dbSNP | Ensembl ]. | VAR_046314 | |||||
| Natural variant | 1158 | 1 | R → W. Corresponds to variant rs8070501 [ dbSNP | Ensembl ]. | VAR_046315 | |||||
| Natural variant | 1221 | 1 | T → A. Corresponds to variant rs9916482 [ dbSNP | Ensembl ]. | VAR_046316 | |||||
| Natural variant | 2087 | 1 | M → V. Corresponds to variant rs9892290 [ dbSNP | Ensembl ]. | VAR_046317 | |||||
| Natural variant | 2195 | 1 | N → S. Corresponds to variant rs3744581 [ dbSNP | Ensembl ]. | VAR_046318 | |||||
| Natural variant | 2438 | 1 | Q → H. Corresponds to variant rs2277658 [ dbSNP | Ensembl ]. | VAR_046319 | |||||
| Natural variant | 2653 | 1 | D → H in a breast cancer sample; somatic mutation. Ref.9 | VAR_036215 | |||||
| Natural variant | 2961 | 1 | K → R. Corresponds to variant rs11870983 [ dbSNP | Ensembl ]. | VAR_046320 | |||||
| Natural variant | 2968 | 1 | K → N. Corresponds to variant rs11871037 [ dbSNP | Ensembl ]. | VAR_046321 | |||||
| Natural variant | 3664 | 1 | T → N in a breast cancer sample; somatic mutation. Ref.9 | VAR_036216 | |||||
| Natural variant | 3726 | 1 | R → Q. Corresponds to variant rs16945431 [ dbSNP | Ensembl ]. | VAR_046322 | |||||
| Natural variant | 3726 | 1 | R → W. Corresponds to variant rs3760436 [ dbSNP | Ensembl ]. | VAR_046323 | |||||
| Natural variant | 4036 | 1 | D → N. Corresponds to variant rs17612861 [ dbSNP | Ensembl ]. | VAR_046324 | |||||
| Natural variant | 4374 | 1 | M → I. Ref.1 Corresponds to variant rs1990236 [ dbSNP | Ensembl ]. | VAR_046325 | |||||
| Natural variant | 4443 | 1 | R → C. Corresponds to variant rs9913494 [ dbSNP | Ensembl ]. | VAR_046326 | |||||
| Natural variant | 4462 | 1 | W → R. Corresponds to variant rs8074656 [ dbSNP | Ensembl ]. | VAR_046327 | |||||
Experimental info | |||||||||
| Sequence conflict | 2216 | 1 | I → T in BAA21573. Ref.5 | ||||||
| Sequence conflict | 2505 | 1 | V → L in AAF69004. Ref.1 | ||||||
| Sequence conflict | 3678 | 1 | A → T in AAF69004. Ref.1 | ||||||
Sequences
| ||||||||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "A ciliary dynein heavy chain whose expression is upregulated in differentiating airway epithelium." Reed W., Moats-Staats B.M., Carson J.L., Leigh M.W., Collier A.M. Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ARG-445 AND ILE-4374. |
| [2] | "Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia." Bartoloni L., Blouin J.-L., Maiti A.K., Sainsbury A., Rossier C., Gehrig C., She J.X., Marron M.P., Lander E.S., Meeks M., Chung E.M.K., Armengot M., Jorissen M., Scott H.S., Delozier-Blanchet C.D., Gardiner R.M., Antonarakis S.E. Genomics 72:21-33(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ARG-445. Tissue: Nasal epithelium. |
| [3] | "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. Nusbaum C.Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "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] (ISOFORM 3). |
| [5] | "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1419-4486 (ISOFORM 2). Tissue: Brain. |
| [6] | Ohara O., Nagase T., Kikuno R., Yamakawa H., Nomura N. Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION. |
| [7] | "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 1874-1974 (ISOFORM 1). Tissue: Nasal polyp. |
| [8] | "Characterization of an axonemal dynein heavy chain expressed early in airway epithelial ciliogenesis." Reed W., Carson J.L., Moats-Staats B.M., Lucier T., Hu P.C., Brighton L., Gambling T.M., Huang C.H., Leigh M.W., Collier A.M. Am. J. Respir. Cell Mol. Biol. 23:734-741(2000) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION. |
| [9] | "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-771; HIS-2653 AND ASN-3664. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF257737 mRNA. Translation: AAF69004.1. AJ404468 mRNA. Translation: CAB94756.1. AC005209 Genomic DNA. No translation available. AC005410 Genomic DNA. No translation available. AC005701 Genomic DNA. No translation available. BC128421 mRNA. Translation: AAI28422.1. AB002355 mRNA. Translation: BAA21573.2. AJ132088 mRNA. Translation: CAA10561.1. |
| IPI | IPI00005823. IPI00302453. IPI00795394. |
| RefSeq | NP_001363.2. NM_001372.3. NP_004653.2. NM_004662.2. |
| UniGene | Hs.567259. |
3D structure databases | |
| ProteinModelPortal | Q9NYC9. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9NYC9. 1 interaction. |
| STRING | 9606.ENSP00000262442. |
PTM databases | |
| PhosphoSite | Q9NYC9. |
Polymorphism databases | |
| DMDM | 311033454. |
Proteomic databases | |
| PaxDb | Q9NYC9. |
| PRIDE | Q9NYC9. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000262442; ENSP00000262442; ENSG00000007174. ENST00000396001; ENSP00000379323; ENSG00000007174. |
| GeneID | 1770. |
| KEGG | hsa:1770. |
| UCSC | uc002gne.3. human. |
Organism-specific databases | |
| CTD | 1770. |
| GeneCards | GC17P011501. |
| H-InvDB | HIX0013543. |
| HGNC | HGNC:2953. DNAH9. |
| HPA | HPA020639. |
| MIM | 603330. gene. |
| neXtProt | NX_Q9NYC9. |
| PharmGKB | PA27406. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5245. |
| HOGENOM | HOG000237309. |
| HOVERGEN | HBG107831. |
| InParanoid | Q9NYC9. |
| OMA | NIWKTYV. |
| OrthoDB | EOG4PC9R8. |
| PhylomeDB | Q9NYC9. |
Gene expression databases | |
| ArrayExpress | Q9NYC9. |
| Bgee | Q9NYC9. |
| CleanEx | HS_DNAH9. HS_DNAL1. |
| Genevestigator | Q9NYC9. |
| GermOnline | ENSG00000007174. Homo sapiens. |
Family and domain databases | |
| InterPro | 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. [Graphical view] |
| PANTHER | PTHR10676. PTHR10676. 1 hit. |
| Pfam | PF07728. AAA_5. 1 hit. PF12780. AAA_8. 1 hit. PF08385. DHC_N1. 1 hit. PF08393. DHC_N2. 1 hit. PF03028. Dynein_heavy. 1 hit. PF12777. MT. 1 hit. [Graphical view] |
| SMART | SM00382. AAA. 4 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 1770. |
| NextBio | 7205. |
| SOURCE | Search... |
Entry information
| Entry name | DYH9_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9NYC9 Secondary accession number(s): A2VCQ8 Q9NQ28 | ||||||||
| 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 17 Human chromosome 17: 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
