Q96JB1 (DYH8_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 87.
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 8, axonemal Alternative name(s): Axonemal beta dynein heavy chain 8 Ciliary dynein heavy chain 8 | ||
| 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 | 4490 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. 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 By similarity. |
| 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. |
| Sequence caution | The sequence CAI19770.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI19821.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI19822.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI20293.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI20294.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI21587.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI21588.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI42435.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI42436.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q96JB1-1) 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: Q96JB1-2) The sequence of this isoform differs from the canonical sequence as follows: 1978-2013: Missing. | ||||||
| Isoform 3 (identifier: Q96JB1-3) The sequence of this isoform is not available. | ||||||
| Isoform 4 (identifier: Q96JB1-4) The sequence of this isoform is not available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 4490 | 4490 | Dynein heavy chain 8, axonemal | PRO_0000274044 | |||||
Regions | |||||||||
| Nucleotide binding | 1846 – 1853 | 8 | ATP Potential | ||||||
| Nucleotide binding | 2128 – 2135 | 8 | ATP Potential | ||||||
| Region | 1808 – 2030 | 223 | AAA 1 By similarity | ||||||
| Region | 2090 – 2309 | 220 | AAA 2 By similarity | ||||||
| Region | 2416 – 2669 | 254 | AAA 3 By similarity | ||||||
| Region | 2780 – 3034 | 255 | AAA 4 By similarity | ||||||
| Region | 3049 – 3346 | 298 | Stalk By similarity | ||||||
| Region | 3432 – 3662 | 231 | AAA 5 By similarity | ||||||
| Region | 3877 – 4091 | 215 | AAA 6 By similarity | ||||||
| Coiled coil | 3072 – 3164 | 93 | Potential | ||||||
| Coiled coil | 3290 – 3354 | 65 | Potential | ||||||
| Coiled coil | 3594 – 3630 | 37 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 674 | 1 | Phosphoserine Ref.5 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1978 – 2013 | 36 | Missing in isoform 2. | VSP_022614 | |||||
| Natural variant | 71 | 1 | N → S. Corresponds to variant rs6935293 [ dbSNP | Ensembl ]. | VAR_030171 | |||||
| Natural variant | 473 | 1 | G → R. Corresponds to variant rs1738254 [ dbSNP | Ensembl ]. | VAR_030172 | |||||
| Natural variant | 573 | 1 | I → V. Ref.1 Corresponds to variant rs3823430 [ dbSNP | Ensembl ]. | VAR_030173 | |||||
| Natural variant | 727 | 1 | A → T. Corresponds to variant rs1678674 [ dbSNP | Ensembl ]. | VAR_030174 | |||||
| Natural variant | 807 | 1 | G → E. Ref.1 Corresponds to variant rs874808 [ dbSNP | Ensembl ]. | VAR_030175 | |||||
| Natural variant | 1202 | 1 | E → K. Ref.1 Corresponds to variant rs9357283 [ dbSNP | Ensembl ]. | VAR_030176 | |||||
| Natural variant | 2226 | 1 | T → M in a colorectal cancer sample; somatic mutation. Ref.6 | VAR_036213 | |||||
| Natural variant | 2444 | 1 | T → N. Corresponds to variant rs862432 [ dbSNP | Ensembl ]. | VAR_030177 | |||||
| Natural variant | 4106 | 1 | T → M. Corresponds to variant rs1537232 [ dbSNP | Ensembl ]. | VAR_030178 | |||||
| Natural variant | 4271 | 1 | I → V. Ref.1 Corresponds to variant rs10484847 [ dbSNP | Ensembl ]. | VAR_030179 | |||||
Experimental info | |||||||||
| Sequence conflict | 1622 | 1 | A → T in AAK60620. Ref.1 | ||||||
| Sequence conflict | 1945 – 1947 | 3 | IFL → VFI in CAB06060. Ref.3 | ||||||
| Sequence conflict | 3495 | 1 | H → R in AAK60620. Ref.1 | ||||||
| Sequence conflict | 4118 | 1 | G → D in AAK60620. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The T complex distorter 2 candidate gene, Dnahc8, encodes at least two testis-specific axonemal dynein heavy chains that differ extensively at their amino and carboxyl termini." Samant S.A., Ogunkua O., Hui L., Fossella J., Pilder S.H. Dev. Biol. 250:24-43(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, VARIANTS VAL-573; GLU-807; LYS-1202 AND VAL-4271. Tissue: Testis. |
| [2] | "The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. Beck S.Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "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 1846-1952 (ISOFORM 1). Tissue: Testis. |
| [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 1856-1912 (ISOFORM 1). Tissue: Nasal polyp. |
| [5] | "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-674, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [6] | "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: VARIANT [LARGE SCALE ANALYSIS] MET-2226. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF356519 mRNA. Translation: AAK60620.1. AL035690 AL353700 Genomic DNA. Translation: CAI19769.1.AL035690 AL391415 Genomic DNA. Translation: CAI19770.1. Sequence problems.AL035555 AL353700 Genomic DNA. Translation: CAI19819.1.AL035555 AL391415 Genomic DNA. Translation: CAI19821.1. Sequence problems.AL035555 AL391415 Genomic DNA. Translation: CAI19822.1. Sequence problems.AL353700 AL035690 Genomic DNA. Translation: CAI20292.1.AL353700 AL391415 Genomic DNA. Translation: CAI20293.1. Sequence problems.AL353700 AL391415 Genomic DNA. Translation: CAI20294.1. Sequence problems.AL391415 AL353700 Genomic DNA. Translation: CAI21587.1. Sequence problems.AL391415 AL353700 Genomic DNA. Translation: CAI21588.1. Sequence problems.AL034345 AL353700 Genomic DNA. Translation: CAI42433.1.AL034345 Genomic DNA. Translation: CAI42434.1. AL034345 AL391415 Genomic DNA. Translation: CAI42435.1. Sequence problems.AL034345 AL391415 Genomic DNA. Translation: CAI42436.1. Sequence problems.Z83806 mRNA. Translation: CAB06060.1. AJ132091 mRNA. Translation: CAA10564.1. |
| IPI | IPI00014845. IPI00478021. |
| RefSeq | NP_001193856.1. NM_001206927.1. |
| UniGene | Hs.520106. Hs.686107. |
3D structure databases | |
| ProteinModelPortal | Q96JB1. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000352312. |
PTM databases | |
| PhosphoSite | Q96JB1. |
Polymorphism databases | |
| DMDM | 124007137. |
Proteomic databases | |
| PaxDb | Q96JB1. |
| PRIDE | Q96JB1. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000327475; ENSP00000333363; ENSG00000124721. ENST00000359357; ENSP00000352312; ENSG00000124721. ENST00000441566; ENSP00000402294; ENSG00000124721. |
| GeneID | 1769. |
| KEGG | hsa:1769. |
| UCSC | uc003ooe.2. human. |
Organism-specific databases | |
| CTD | 1769. |
| GeneCards | GC06P038685. |
| H-InvDB | HIX0033271. |
| HGNC | HGNC:2952. DNAH8. |
| HPA | HPA028447. HPA030108. |
| MIM | 603337. gene. |
| neXtProt | NX_Q96JB1. |
| PharmGKB | PA27405. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5245. |
| HOVERGEN | HBG005543. |
| InParanoid | Q96JB1. |
| OrthoDB | EOG4JDH5V. |
Gene expression databases | |
| ArrayExpress | Q96JB1. |
| Bgee | Q96JB1. |
| CleanEx | HS_DNAH8. |
| Genevestigator | Q96JB1. |
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. 3 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 1769. |
| NextBio | 7201. |
| SOURCE | Search... |
Entry information
| Entry name | DYH8_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96JB1 Secondary accession number(s): O00438 Q9UEM4 | ||||||||
| Entry history |
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| 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 6 Human chromosome 6: 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
