Q9P225 (DYH2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 83.
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 2, axonemal Alternative name(s): Axonemal beta dynein heavy chain 2 Ciliary dynein heavy chain 2 Dynein heavy chain domain-containing protein 3 | ||||
| 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 | 4427 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.5 |
| 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. Contains 5 TPR repeats. |
| RNA editing | Modified position: not applicable. |
| Sequence caution | The sequence AK128517 differs from that shown. Reason: Frameshift at position 3963. The sequence BAA96027.2 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9P225-1) 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: Q9P225-2) The sequence of this isoform differs from the canonical sequence as follows: 3062-3100: Missing. 4211-4235: EKGIQGLIVMSTSLEEIFNCIFDAH → EIPSCVSHKSERVVLELSAVKHPRQ 4236-4427: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q9P225-3) The sequence of this isoform differs from the canonical sequence as follows: 390-390: K → KMSNEIIRLC...FVQRCKDLIE 636-790: SLLILFAEID...QREHRAAVQQ → YRSHLAPFPY...SPEPGRQRLQ 791-4427: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 4427 | 4427 | Dynein heavy chain 2, axonemal | PRO_0000322542 | |||||
Regions | |||||||||
| Repeat | 1404 – 1439 | 36 | TPR 1 | ||||||
| Repeat | 2721 – 2754 | 34 | TPR 2 | ||||||
| Repeat | 3072 – 3105 | 34 | TPR 3 | ||||||
| Repeat | 4072 – 4104 | 33 | TPR 4 | ||||||
| Repeat | 4105 – 4140 | 36 | TPR 5 | ||||||
| Nucleotide binding | 1803 – 1810 | 8 | ATP Potential | ||||||
| Nucleotide binding | 2084 – 2091 | 8 | ATP Potential | ||||||
| Nucleotide binding | 2416 – 2423 | 8 | ATP Potential | ||||||
| Nucleotide binding | 2762 – 2769 | 8 | ATP Potential | ||||||
| Region | 1 – 1764 | 1764 | Stem By similarity | ||||||
| Region | 1765 – 1986 | 222 | AAA 1 By similarity | ||||||
| Region | 2046 – 2273 | 228 | AAA 2 By similarity | ||||||
| Region | 2378 – 2625 | 248 | AAA 3 By similarity | ||||||
| Region | 2722 – 2974 | 253 | AAA 4 By similarity | ||||||
| Region | 2989 – 3272 | 284 | Stalk By similarity | ||||||
| Region | 3358 – 3588 | 231 | AAA 5 By similarity | ||||||
| Region | 3804 – 4023 | 220 | AAA 6 By similarity | ||||||
| Coiled coil | 3012 – 3049 | 38 | Potential | ||||||
| Coiled coil | 3216 – 3304 | 89 | Potential | ||||||
| Coiled coil | 3523 – 3567 | 45 | Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 390 | 1 | K → KMSNEIIRLCCHAISLDRIF EGYVSSSKEDLQGCILCCHA WKDHYVQAVQMHIQFSSRGW VLDQTSIFAQVDAFVQRCKD LIE in isoform 3. | VSP_031913 | |||||
| Alternative sequence | 636 – 790 | 155 | SLLIL…AAVQQ → YRSHLAPFPYTPLLQLSQEF HSHLLTPLFIILSLSHTICL LSSFYFFFSSFIFVSPHLPP CYQHFNFTTYLKTQQNKTMI GQARWLTPVIPALWEAEVGA SLEPRSLRTAWATWQNPVSA KNTKISWAWWHKPVVSATWE GEVGGSPEPGRQRLQ in isoform 3. | VSP_031914 | |||||
| Alternative sequence | 791 – 4427 | 3637 | Missing in isoform 3. | VSP_031915 | |||||
| Alternative sequence | 3062 – 3100 | 39 | Missing in isoform 2. | VSP_031916 | |||||
| Alternative sequence | 4211 – 4235 | 25 | EKGIQ…IFDAH → EIPSCVSHKSERVVLELSAV KHPRQ in isoform 2. | VSP_031917 | |||||
| Alternative sequence | 4236 – 4427 | 192 | Missing in isoform 2. | VSP_031918 | |||||
| Natural variant | 100 | 1 | A → V. Corresponds to variant rs35664870 [ dbSNP | Ensembl ]. | VAR_039407 | |||||
| Natural variant | 312 | 1 | S → T. Corresponds to variant rs3744254 [ dbSNP | Ensembl ]. | VAR_039408 | |||||
| Natural variant | 1326 | 1 | E → G. Corresponds to variant rs11868946 [ dbSNP | Ensembl ]. | VAR_039409 | |||||
| Natural variant | 2548 | 1 | R → H. Corresponds to variant rs11656500 [ dbSNP | Ensembl ]. | VAR_039410 | |||||
| Natural variant | 2904 | 1 | R → H. Corresponds to variant rs2309808 [ dbSNP | Ensembl ]. | VAR_060134 | |||||
| Natural variant | 3600 | 1 | T → I. Corresponds to variant rs7213894 [ dbSNP | Ensembl ]. | VAR_039411 | |||||
| Isoform 3: | |||||||||
| Natural variant | 812 | 1 | E → G in RNA edited version. | ||||||
| Natural variant | 814 | 1 | E → G in RNA edited version. | ||||||
| Natural variant | 826 | 1 | T → A in RNA edited version. | ||||||
| Natural variant | 833 | 1 | N → D in RNA edited version. | ||||||
| Natural variant | 838 | 1 | K → E in RNA edited version. | ||||||
| Natural variant | 839 | 1 | N → D in RNA edited version. | ||||||
| Natural variant | 841 | 1 | K → E in RNA edited version. | ||||||
| Natural variant | 843 | 1 | S → G in RNA edited version. | ||||||
| Natural variant | 855 | 1 | T → A in RNA edited version. | ||||||
| Natural variant | 865 | 1 | E → G in RNA edited version. | ||||||
| Natural variant | 869 | 1 | Q → R in RNA edited version. | ||||||
| Natural variant | 872 | 1 | Q → R in RNA edited version. | ||||||
Experimental info | |||||||||
| Sequence conflict | 593 | 1 | E → G in AAH34225. Ref.4 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [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 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3013-4427 (ISOFORM 2). Tissue: Testis and Trachea. |
| [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). Tissue: Testis. |
| [5] | "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 [MRNA] OF 1820-1902 (ISOFORM 1), TISSUE SPECIFICITY. |
| [6] | "Inosine cyanoethylation identifies A-to-I RNA editing sites in the human transcriptome." Sakurai M., Yano T., Kawabata H., Ueda H., Suzuki T. Nat. Chem. Biol. 6:733-740(2010) [PubMed] [Europe PMC] [Abstract] Cited for: RNA EDITING VARIANTS (ISOFORM 3). Tissue: Brain. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB040936 mRNA. Translation: BAA96027.2. Different initiation. AK128517 mRNA. No translation available. AK292607 mRNA. Translation: BAF85296.1. AC025335 Genomic DNA. No translation available. AC087388 Genomic DNA. No translation available. BC034225 mRNA. Translation: AAH34225.1. U83570 Genomic DNA. Translation: AAB82760.1. |
| IPI | IPI00292777. IPI00651691. IPI00783464. |
| RefSeq | NP_065928.2. NM_020877.2. |
| UniGene | Hs.367649. |
3D structure databases | |
| ProteinModelPortal | Q9P225. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9P225. 1 interaction. |
| STRING | 9606.ENSP00000373825. |
PTM databases | |
| PhosphoSite | Q9P225. |
Polymorphism databases | |
| DMDM | 172044680. |
Proteomic databases | |
| PaxDb | Q9P225. |
| PRIDE | Q9P225. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000082259; ENSP00000082259; ENSG00000183914. ENST00000389173; ENSP00000373825; ENSG00000183914. ENST00000570791; ENSP00000460245; ENSG00000183914. ENST00000572933; ENSP00000458355; ENSG00000183914. |
| GeneID | 146754. |
| KEGG | hsa:146754. |
| UCSC | uc002git.3. human. uc002giu.1. human. |
Organism-specific databases | |
| CTD | 146754. |
| GeneCards | GC17P007623. |
| H-InvDB | HIX0202391. |
| HGNC | HGNC:2948. DNAH2. |
| MIM | 603333. gene. |
| neXtProt | NX_Q9P225. |
| PharmGKB | PA27401. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5245. |
| HOGENOM | HOG000237308. |
| HOVERGEN | HBG104828. |
| InParanoid | Q9P225. |
| KO | K10408. |
| OMA | KISRPPQ. |
Gene expression databases | |
| ArrayExpress | Q9P225. |
| Bgee | Q9P225. |
| CleanEx | HS_DNAH2. |
| Genevestigator | Q9P225. |
Family and domain databases | |
| InterPro | IPR003593. AAA+_ATPase. IPR011704. ATPase_dyneun-rel_AAA. IPR026983. DHC_fam. IPR026976. DNAH2. 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. PTHR10676:SF130. PTHR10676:SF130. 1 hit. |
| Pfam | PF07728. AAA_5. 1 hit. PF12780. AAA_8. 1 hit. PF08385. DHC_N1. 2 hits. PF08393. DHC_N2. 1 hit. PF03028. Dynein_heavy. 1 hit. PF12777. MT. 1 hit. [Graphical view] |
| SMART | SM00382. AAA. 2 hits. [Graphical view] |
| PROSITE | PS50005. TPR. False negative. PS50293. TPR_REGION. False negative. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 146754. |
| NextBio | 85439. |
| SOURCE | Search... |
Entry information
| Entry name | DYH2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9P225 Secondary accession number(s): A8K992 Q6ZR42 | ||||||||
| 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
