Q0VDD8 (DYH14_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 63.
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 14, axonemal Alternative name(s): Axonemal beta dynein heavy chain 14 Ciliary dynein heavy chain 14 | ||||
| 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 | 3507 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. |
| 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. |
| Sequence caution | The sequence AAI19717.1 differs from that shown. Reason: Erroneous initiation. The sequence AAI19718.1 differs from that shown. Reason: Erroneous initiation. The sequence CAI95150.2 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI95641.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI95642.2 differs from that shown. Reason: Erroneous gene model prediction. The sequence EAW69735.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell projection Cilium Cytoplasm Cytoskeleton Dynein Microtubule |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil |
| Ligand | ATP-binding Nucleotide-binding |
| Molecular function | Motor protein |
| PTM | Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | microtubule-based movement Inferred from electronic annotation. Source: InterPro |
| Cellular_component | cilium axoneme Inferred from electronic annotation. Source: UniProtKB-SubCell dynein complexInferred from electronic annotation. Source: UniProtKB-KW microtubuleInferred from electronic annotation. Source: UniProtKB-KW |
| Molecular_function | ATP binding Inferred from electronic annotation. Source: UniProtKB-KW microtubule motor activityInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q0VDD8-1) 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. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 2 (identifier: Q0VDD8-2) The sequence of this isoform differs from the canonical sequence as follows: 1-177: Missing. 249-249: E → EDYLRESIIQQHMVSPEPASLKEKGKSRRKKDQTHACPNVRKARPVSYDRT 344-344: K → KVINIVGSVK...NNLSAICLVK 473-3507: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q0VDD8-3) The sequence of this isoform differs from the canonical sequence as follows: 1-177: Missing. 249-249: E → EDYLRESIIQQHMVSPEPASLKEKGKSRRKKDQTHACPNVRKARPVSYDRT 345-355: LDSSRTYSLDE → RYLVICGAVYI 356-3507: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q0VDD8-4) The sequence of this isoform differs from the canonical sequence as follows: 1-177: Missing. 249-249: E → EDYLRESIIQQHMVSPEPASLKEKGKSRRKKDQTHACPNVRKARPVSYDRT 344-344: K → KVINIVGSVK...NNLSAICLVK 609-609: A → DTEIETEFENKYMYYEFPEFPTNLFIDPNRLEFSVKIQNMLTNMEKCIT 744-744: V → SLDYQSECLLYIDNVIHMSHTLIQSVIEKKNKNLLEVV 979-979: K → KGLPKSDMVT...TPLPLILHHT 1017-1017: K → KDLVNEWDQN...YIYNIILLFQ 1180-1219: CALFAFKCNT...VLVMNTVMSF → SLGKHCVVFN...IKAAKDNYSA 1332-1336: Missing. 1823-1823: G → GWKHWGQSQGRRRKGNC 1861-1861: R → RGTSLLTNLQ...ETHKTATGSS 2011-2011: Q → QAHLGIYFSI...LSRELENCFQ 2495-2495: L → LVEEHLLFLQ...LIKVMAQKYE 2573-2582: SCQASTWRKK → NLLETLAPGLKAILKKDIYQKKGHYFIRVGDAEFEYNSNFR 2949-3016: KHTFCLLLRA...FYGHCVDKYH → TELLNENKETCNPINFPWEKLTSFQRLIL 3069-3069: G → GIDLTNILLR...VLKDDFSFSR |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 3507 | 3507 | Dynein heavy chain 14, axonemal | PRO_0000286560 | |||||
Regions | |||||||||
| Nucleotide binding | 1164 – 1171 | 8 | ATP Potential | ||||||
| Nucleotide binding | 1427 – 1434 | 8 | ATP Potential | ||||||
| Motif | 1164 – 1171 | 8 | GPAGTGKT motif By similarity | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 1818 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 177 | 177 | Missing in isoform 2, isoform 3 and isoform 4. | VSP_031314 | |||||
| Alternative sequence | 249 | 1 | E → EDYLRESIIQQHMVSPEPAS LKEKGKSRRKKDQTHACPNV RKARPVSYDRT in isoform 2, isoform 3 and isoform 4. | VSP_031315 | |||||
| Alternative sequence | 344 | 1 | K → KVINIVGSVKEVELIPTLEW LSERRHYYLLRQFKIFSDFR MNKAFVTWKLNVKRIKTEKS RSFLYHHLFLADDLFQTCLV YIRGLCEDAINLKNYNDHEN NLSAICLVK in isoform 2 and isoform 4. | VSP_031316 | |||||
| Alternative sequence | 345 – 355 | 11 | LDSSRTYSLDE → RYLVICGAVYI in isoform 3. | VSP_038241 | |||||
| Alternative sequence | 356 – 3507 | 3152 | Missing in isoform 3. | VSP_038242 | |||||
| Alternative sequence | 473 – 3507 | 3035 | Missing in isoform 2. | VSP_031317 | |||||
| Alternative sequence | 609 | 1 | A → DTEIETEFENKYMYYEFPEF PTNLFIDPNRLEFSVKIQNM LTNMEKCIT in isoform 4. | VSP_038243 | |||||
| Alternative sequence | 744 | 1 | V → SLDYQSECLLYIDNVIHMSH TLIQSVIEKKNKNLLEVV in isoform 4. | VSP_038244 | |||||
| Alternative sequence | 979 | 1 | K → KGLPKSDMVTHLKQVVTEFK QELPIIIALGNPCLKPRHWE ALQEIIGKSVPLDKNCKVEN LLALKMFQYENEINDMSTSA TNEAALEKMLFKIIDFWNTT PLPLILHHT in isoform 4. | VSP_038245 | |||||
| Alternative sequence | 1017 | 1 | K → KDLVNEWDQNLTLFSYTLEE WMNCQRNWLYLEPVFHSSEI RRQLPAETELFSQVISMWKK IMSKIQNKQNALQITTSAGV LEILQNCNIHLEHIKKSLED YLEVKRLIFPRFYFLSNAEL LDILADSRNPESVQPHLVKC FENIKQLLIWKQDIGPPAVK MLISAEGEGLVLPKKIRVRS AVEQWLVNVEKSMFDVLKKE RYIYNIILLFQ in isoform 4. | VSP_038246 | |||||
| Alternative sequence | 1180 – 1219 | 40 | CALFA…TVMSF → SLGKHCVVFNCFEDLDYKIV RKFFFGLVQSGAWSCFDEFN LIDLEVLSVIASQILTIKAA KDNYSA in isoform 4. | VSP_038247 | |||||
| Alternative sequence | 1332 – 1336 | 5 | Missing in isoform 4. | VSP_038248 | |||||
| Alternative sequence | 1823 | 1 | G → GWKHWGQSQGRRRKGNC in isoform 4. | VSP_038249 | |||||
| Alternative sequence | 1861 | 1 | R → RGTSLLTNLQRSGGNFLKIT ECGECINYTATRDTTCLSFL MSLLLKNSCPVLLTGESGVG KTAAINQMLEKLEGPGAFDI KHGSILGDTLLYSEIKKSSS LKQNITILIPETHKTATGSS in isoform 4. | VSP_038250 | |||||
| Alternative sequence | 2011 | 1 | Q → QAHLGIYFSINNFTPEVQKS KDQIISCSLAIYHQVRQNML PTPTKCHYMFNLRDMFKLLL GLLQADRTVVNSKEMAALLF VHEATRVFHDRLIDFTDKSL FYRLLSRELENCFQ in isoform 4. | VSP_038251 | |||||
| Alternative sequence | 2495 | 1 | L → LVEEHLLFLQAAYKDTVAEK QLLANRKTMASRRFQCASVL LTVLEDEKTRWQETINQIDN KLEGILGDILLSAACIVYSG ILTPEFRQLIVNKWETFCIE NGISLSSKFSLIKVMAQKYE in isoform 4. | VSP_038252 | |||||
| Alternative sequence | 2573 – 2582 | 10 | SCQASTWRKK → NLLETLAPGLKAILKKDIYQ KKGHYFIRVGDAEFEYNSNF R in isoform 4. | VSP_038253 | |||||
| Alternative sequence | 2949 – 3016 | 68 | KHTFC…VDKYH → TELLNENKETCNPINFPWEK LTSFQRLIL in isoform 4. | VSP_038254 | |||||
| Alternative sequence | 3069 | 1 | G → GIDLTNILLRFAQELKGTTH HVTIISLGRDQAAKAEDLIL KALTKTQQWVFLQNCHLATS FMPRLCTIVESFNSPNVTID PEFRLWLSSKSYSSFPIPVL KKGLKIAVESPQGLKSNLLQ TFGCTGSGEVTEEIFENPDC GQWWKKLLFSLCFFNAVINE RKNYGILGWNIAYKFNSSDL GVAIKVLENSLRGQPSISWQ ALRYLIGEVIYGGRVIDNWD KRCLKTLLYKFCNPEVLKDD FSFSR in isoform 4. | VSP_038255 | |||||
| Natural variant | 220 | 1 | T → S. Ref.3 Corresponds to variant rs41267347 [ dbSNP | Ensembl ]. | VAR_032116 | |||||
| Natural variant | 274 | 1 | P → L. Ref.3 Corresponds to variant rs41267349 [ dbSNP | Ensembl ]. | VAR_032117 | |||||
| Natural variant | 2671 | 1 | K → E. Corresponds to variant rs6667999 [ dbSNP | Ensembl ]. | VAR_057764 | |||||
Experimental info | |||||||||
| Sequence conflict | 424 | 1 | F → L in AAI19718. Ref.3 | ||||||
Sequences
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References
| [1] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [2] | 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]. |
| [3] | "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 2), VARIANTS SER-220 AND LEU-274. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AC093560 Genomic DNA. No translation available. AL590547 Genomic DNA. No translation available. AL596134 Genomic DNA. No translation available. AL645769 Genomic DNA. No translation available. AL357912 Genomic DNA. Translation: CAI95150.2. Sequence problems. AL162738 Genomic DNA. Translation: CAI95641.1. Sequence problems. AL162738, AC092811 Genomic DNA. Translation: CAI95642.2. Sequence problems. CH471098 Genomic DNA. Translation: EAW69735.1. Sequence problems. BC119716 mRNA. Translation: AAI19717.1. Different initiation. BC119717 mRNA. Translation: AAI19718.1. Different initiation. |
| IPI | IPI00479838. IPI00884997. IPI00885037. IPI00925578. |
| RefSeq | NP_001138626.1. NM_001145154.1. NP_001364.1. NM_001373.1. NP_659426.2. NM_144989.2. |
| UniGene | Hs.133977. |
3D structure databases | |
| ProteinModelPortal | Q0VDD8. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q0VDD8. |
Polymorphism databases | |
| DMDM | 172046085. |
Proteomic databases | |
| PaxDb | Q0VDD8. |
| PRIDE | Q0VDD8. |
Protocols and materials databases | |
| DNASU | 127602. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000366848; ENSP00000355813; ENSG00000185842. ENST00000366850; ENSP00000355815; ENSG00000185842. ENST00000400952; ENSP00000383737; ENSG00000185842. ENST00000430092; ENSP00000414402; ENSG00000185842. ENST00000439375; ENSP00000392061; ENSG00000185842. ENST00000445597; ENSP00000409472; ENSG00000185842. |
| GeneID | 127602. |
| KEGG | hsa:127602. |
| UCSC | uc001hot.4. human. uc001hov.4. human. uc001how.2. human. |
Organism-specific databases | |
| CTD | 127602. |
| GeneCards | GC01P225083. |
| HGNC | HGNC:2945. DNAH14. |
| HPA | HPA027718. |
| MIM | 603341. gene. |
| neXtProt | NX_Q0VDD8. |
| PharmGKB | PA27399. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5245. |
| OMA | MIFPRFY. |
Gene expression databases | |
| ArrayExpress | Q0VDD8. |
| Bgee | Q0VDD8. |
| Genevestigator | Q0VDD8. |
Family and domain databases | |
| InterPro | IPR026983. DHC_fam. IPR024743. Dynein_HC_stalk. IPR024317. Dynein_heavy_chain_D4_dom. IPR004273. Dynein_heavy_dom. [Graphical view] |
| PANTHER | PTHR10676. PTHR10676. 1 hit. |
| Pfam | PF12780. AAA_8. 1 hit. PF03028. Dynein_heavy. 3 hits. PF12777. MT. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 127602. |
| NextBio | 82137. |
| SOURCE | Search... |
Entry information
| Entry name | DYH14_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q0VDD8 Secondary accession number(s): A6NG62 Q5VU34 | ||||||||
| 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 1 Human chromosome 1: 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
