Q8NCM8 (DYHC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 79.
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: Cytoplasmic dynein 2 heavy chain 1 Alternative name(s): Cytoplasmic dynein 2 heavy chain Dynein cytoplasmic heavy chain 2 Dynein heavy chain 11 Short name=hDHC11 Dynein heavy chain isotype 1B | ||||
| 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 | 4307 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells By similarity. |
| Subunit structure | The cytoplasmic dynein complex 2 is probably composed by a heavy chain DYNC2H1 homodimer and a number of DYNC2LI1 light intermediate chains By similarity. |
| Subcellular location | Cytoplasm › cytoskeleton › cilium axoneme By similarity. Cell membrane; Peripheral membrane protein By similarity. Cytoplasm By similarity. Note: Localizes to the apical cytoplasm By similarity. According to Ref.4, it localizes to Golgi apparatus, cytoplasmic vesicle and endoplasmic reticulum. Ref.4 |
| Involvement in disease | Asphyxiating thoracic dystrophy 3 (ATD3) [MIM:613091]: An autosomal recessive chondrodysplasia characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often leads to death in infancy because of respiratory insufficiency. Retinal degeneration, cystic renal disease and hepatic disease can be present in affected individuals who survive early childhood. Short rib-polydactyly syndrome 3 (SRPS3) [MIM:263510]: A lethal skeletal dysplasia characterized by markedly short ribs, short limbs, polydactyly, narrow thorax, and multiple anomalies of major organs, including heart, intestines, genitalia, kidney, liver, and pancreas. |
| Sequence similarities | Belongs to the dynein heavy chain family. |
| Sequence caution | The sequence BAB13905.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAC04578.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAD18598.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8NCM8-1) 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: Q8NCM8-2) The sequence of this isoform differs from the canonical sequence as follows: 3273-3273: Q → QIIGLKSW | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q8NCM8-3) The sequence of this isoform differs from the canonical sequence as follows: 736-4122: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 4307 | 4307 | Cytoplasmic dynein 2 heavy chain 1 | PRO_0000318743 | |||||
Regions | |||||||||
| Nucleotide binding | 145 – 152 | 8 | ATP Potential | ||||||
| Nucleotide binding | 1689 – 1696 | 8 | ATP Potential | ||||||
| Nucleotide binding | 1979 – 1986 | 8 | ATP Potential | ||||||
| Nucleotide binding | 2291 – 2298 | 8 | ATP Potential | ||||||
| Nucleotide binding | 2655 – 2662 | 8 | ATP Potential | ||||||
| Region | 1 – 1650 | 1650 | Stem By similarity | ||||||
| Region | 1651 – 1875 | 225 | AAA 1 By similarity | ||||||
| Region | 1938 – 2161 | 224 | AAA 2 By similarity | ||||||
| Region | 2251 – 2505 | 255 | AAA 3 By similarity | ||||||
| Region | 2617 – 2863 | 247 | AAA 4 By similarity | ||||||
| Region | 2881 – 3169 | 289 | Stalk By similarity | ||||||
| Region | 3244 – 3473 | 230 | AAA 5 By similarity | ||||||
| Region | 3690 – 3905 | 216 | AAA 6 By similarity | ||||||
| Coiled coil | 1074 – 1103 | 30 | Potential | ||||||
| Coiled coil | 2897 – 2982 | 86 | Potential | ||||||
| Coiled coil | 3109 – 3200 | 92 | Potential | ||||||
| Coiled coil | 3408 – 3442 | 35 | Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 736 – 4122 | 3387 | Missing in isoform 3. | VSP_031282 | |||||
| Alternative sequence | 3273 | 1 | Q → QIIGLKSW in isoform 2. | VSP_031283 | |||||
| Natural variant | 209 | 1 | F → I in SRPS3. Ref.12 | VAR_063242 | |||||
| Natural variant | 302 | 1 | T → P. Corresponds to variant rs12803695 [ dbSNP | Ensembl ]. | VAR_038862 | |||||
| Natural variant | 304 | 1 | Q → L. Corresponds to variant rs12146610 [ dbSNP | Ensembl ]. | VAR_038863 | |||||
| Natural variant | 341 | 1 | H → Y. Corresponds to variant rs17301182 [ dbSNP | Ensembl ]. | VAR_038864 | |||||
| Natural variant | 456 | 1 | R → Q. Corresponds to variant rs17099969 [ dbSNP | Ensembl ]. | VAR_038865 | |||||
| Natural variant | 587 | 1 | R → C in SRPS3. Ref.12 | VAR_063243 | |||||
| Natural variant | 789 | 1 | R → K. Corresponds to variant rs7358374 [ dbSNP | Ensembl ]. | VAR_038866 | |||||
| Natural variant | 1221 | 1 | R → K. Corresponds to variant rs12794914 [ dbSNP | Ensembl ]. | VAR_038867 | |||||
| Natural variant | 1240 | 1 | I → T in ATD3. Ref.13 | VAR_063244 | |||||
| Natural variant | 1288 | 1 | T → A. Corresponds to variant rs17301750 [ dbSNP | Ensembl ]. | VAR_038868 | |||||
| Natural variant | 1413 | 1 | K → R. Ref.4 Corresponds to variant rs688906 [ dbSNP | Ensembl ]. | VAR_038869 | |||||
| Natural variant | 1537 | 1 | Q → R in ATD3. | VAR_063245 | |||||
| Natural variant | 1987 | 1 | T → A in SRPS3. Ref.13 | VAR_063246 | |||||
| Natural variant | 1991 | 1 | M → L in ATD3. Ref.13 | VAR_063247 | |||||
| Natural variant | 2205 | 1 | R → H in SRPS3. Ref.12 | VAR_063248 | |||||
| Natural variant | 2461 | 1 | G → V in SRPS3. Ref.13 | VAR_063249 | |||||
| Natural variant | 2871 | 1 | R → Q. Ref.7 Ref.8 Corresponds to variant rs589623 [ dbSNP | Ensembl ]. | VAR_038870 | |||||
| Natural variant | 3015 | 1 | D → G in ATD3. Ref.13 | VAR_063250 | |||||
| Natural variant | 3680 | 1 | A → V. Ref.8 Corresponds to variant rs10895391 [ dbSNP | Ensembl ]. | VAR_038871 | |||||
| Natural variant | 3762 | 1 | L → V in ATD3. Ref.13 | VAR_063251 | |||||
| Natural variant | 3976 | 1 | S → N. Corresponds to variant rs4754914 [ dbSNP | Ensembl ]. | VAR_038872 | |||||
| Natural variant | 4139 | 1 | Q → P. Corresponds to variant rs1793493 [ dbSNP | Ensembl ]. | VAR_038873 | |||||
Experimental info | |||||||||
| Sequence conflict | 174 | 1 | D → G in BAE17138. Ref.1 | ||||||
| Sequence conflict | 178 | 1 | F → L in BAE17138. Ref.1 | ||||||
| Sequence conflict | 594 | 1 | F → L in BAE17138. Ref.1 | ||||||
| Sequence conflict | 1120 | 1 | I → N in AAB09728. Ref.4 | ||||||
| Sequence conflict | 1168 | 1 | D → V in AAB09728. Ref.4 | ||||||
| Sequence conflict | 1784 | 1 | N → H in CAB06054. Ref.6 | ||||||
| Sequence conflict | 1864 | 1 | W → Y in CAB06054. Ref.6 | ||||||
| Sequence conflict | 1866 – 1867 | 2 | LR → FS in CAB06054. Ref.6 | ||||||
| Sequence conflict | 1930 | 1 | E → K in BAE46899. Ref.1 | ||||||
| Sequence conflict | 3095 | 1 | A → V in CAD98012. Ref.7 | ||||||
| Sequence conflict | 3665 | 1 | L → P in CAD98012. Ref.7 | ||||||
| Sequence conflict | 4258 | 1 | C → R in BAB13905. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification of novel human genes predicted by combining multiple gene finders." Totoki Y., Yada T., Sakaki Y., Takeda T. Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1911-2004 (ISOFORM 1). |
| [2] | "Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. Sakaki Y.Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "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] OF 1-1088 AND 2955-4307 (ISOFORM 1). Tissue: Brain, Embryo, Placenta and Testis. |
| [4] | "Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles." Vaisberg E.A., Grissom P.M., McIntosh J.R. J. Cell Biol. 133:831-842(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1091-1745 (ISOFORM 1), VARIANT ARG-1413, TOPOLOGY, SUBCELLULAR LOCATION. |
| [5] | "Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins." Gibbons B.H., Asai D.J., Tang W.-J.Y., Hays T.S., Gibbons I.R. Mol. Biol. Cell 5:57-70(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1671-1831 (ISOFORM 1). Tissue: Liver. |
| [6] | "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 1689-1867 (ISOFORM 1). Tissue: Testis. |
| [7] | "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 2583-4307 (ISOFORM 2), VARIANT GLN-2871. Tissue: Retina. |
| [8] | "Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method." Ohara O., Nagase T., Mitsui G., Kohga H., Kikuno R., Hiraoka S., Takahashi Y., Kitajima S., Saga Y., Koseki H. DNA Res. 9:47-57(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2623-4307 (ISOFORM 1), VARIANTS GLN-2871 AND VAL-3680. Tissue: Brain. |
| [9] | Ohara O., Nagase T., Yamakawa H., Kikuno R. Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION. |
| [10] | "Genetic analysis of the cytoplasmic dynein subunit families." Pfister K.K., Shah P.R., Hummerich H., Russ A., Cotton J., Annuar A.A., King S.M., Fisher E.M.C. PLoS Genet. 2:11-26(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NOMENCLATURE. |
| [11] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [12] | "Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome." Merrill A.E., Merriman B., Farrington-Rock C., Camacho N., Sebald E.T., Funari V.A., Schibler M.J., Firestein M.H., Cohn Z.A., Priore M.A., Thompson A.K., Rimoin D.L., Nelson S.F., Cohn D.H., Krakow D. Am. J. Hum. Genet. 84:542-549(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SRPS3 ILE-209; CYS-587 AND HIS-2205. |
| [13] | "DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III." Dagoneau N., Goulet M., Genevieve D., Sznajer Y., Martinovic J., Smithson S., Huber C., Baujat G., Flori E., Tecco L., Cavalcanti D., Delezoide A.-L., Serre V., Le Merrer M., Munnich A., Cormier-Daire V. Am. J. Hum. Genet. 84:706-711(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ATD3 THR-1240; LEU-1991; GLY-3015 AND VAL-3762, VARIANTS SRPS3 ALA-1987 AND VAL-2461. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB231765 mRNA. Translation: BAE46899.1. AB231766 mRNA. Translation: BAE17138.1. AP000817 Genomic DNA. No translation available. AP001486 Genomic DNA. No translation available. AP002829 Genomic DNA. No translation available. AP002961 Genomic DNA. No translation available. AP003382 Genomic DNA. No translation available. AP003461 Genomic DNA. No translation available. AK021818 mRNA. Translation: BAB13905.1. Different initiation. AK095579 mRNA. Translation: BAC04578.1. Different initiation. AK125524 mRNA. Translation: BAC86194.1. AK131453 mRNA. Translation: BAD18598.1. Different initiation. U53531 mRNA. Translation: AAB09728.1. U20552 mRNA. Translation: AAB50020.1. Z83800 mRNA. Translation: CAB06054.1. BX538093 mRNA. Translation: CAD98012.1. AB082528 mRNA. Translation: BAC02706.2. |
| IPI | IPI00171494. IPI00788188. IPI00885216. |
| RefSeq | NP_001073932.1. NM_001080463.1. NP_001368.2. NM_001377.2. |
| UniGene | Hs.503721. |
3D structure databases | |
| ProteinModelPortal | Q8NCM8. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8NCM8. 4 interactions. |
| MINT | MINT-8188622. |
PTM databases | |
| PhosphoSite | Q8NCM8. |
Polymorphism databases | |
| DMDM | 311033479. |
Proteomic databases | |
| PaxDb | Q8NCM8. |
| PRIDE | Q8NCM8. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000334267; ENSP00000334021; ENSG00000187240. ENST00000375735; ENSP00000364887; ENSG00000187240. ENST00000398093; ENSP00000381167; ENSG00000187240. |
| GeneID | 79659. |
| KEGG | hsa:79659. |
| UCSC | uc001phn.1. human. uc001pho.2. human. uc009yxe.1. human. |
Organism-specific databases | |
| CTD | 79659. |
| GeneCards | GC11P102980. |
| HGNC | HGNC:2962. DYNC2H1. |
| HPA | HPA039016. |
| MIM | 263510. phenotype. 603297. gene. 613091. phenotype. |
| neXtProt | NX_Q8NCM8. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5245. |
| HOVERGEN | HBG107832. |
| KO | K10414. |
| OMA | FLSDEDT. |
Enzyme and pathway databases | |
| Reactome | REACT_6900. Immune System. |
Gene expression databases | |
| ArrayExpress | Q8NCM8. |
| Bgee | Q8NCM8. |
| Genevestigator | Q8NCM8. |
Family and domain databases | |
| InterPro | IPR003593. AAA+_ATPase. IPR011704. ATPase_dyneun-rel_AAA. IPR026983. DHC_fam. IPR026815. DYNC2H1. IPR024743. Dynein_HC_stalk. IPR024317. Dynein_heavy_chain_D4_dom. IPR004273. Dynein_heavy_dom. IPR013594. Dynein_heavy_dom-1. IPR013602. Dynein_heavy_dom-2. IPR027417. P-loop_NTPase. [Graphical view] |
| PANTHER | PTHR10676. PTHR10676. 1 hit. PTHR10676:SF34. PTHR10676:SF34. 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] |
| SUPFAM | SSF52540. SSF52540. 4 hits. |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 79659. |
| NextBio | 68838. |
| SOURCE | Search... |
Entry information
| Entry name | DYHC2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NCM8 Secondary accession number(s): O00432 Q9HAE4 | ||||||||
| 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 11 Human chromosome 11: 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
