Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Dync2h1. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of February 2, 2006. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

---

Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]

---

Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Dync2h1
  • is located in the following cellular components:
    • apical part of cell ^[6]
    • cilium axoneme ^[6]
    • motile primary cilium ^[6]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Dync2h1
  • participates in the following biological processes:
    • asymmetric protein localization ^[4]
    • cilium assembly ^{[2, 4]}
    • cilium morphogenesis ^[3]
    • determination of left/right symmetry ^{[1, 2, 4]}
    • dorsal/ventral pattern formation ^{[1, 2, 4]}
    • embryonic limb morphogenesis ^[4]
    • forebrain development ^[4]
    • neuron differentiation ^[5]
    • protein processing ^{[2, 4]}
• Researchers have inferred, based on genetic interactions, that the gene product of Dync2h1
  • participates in the following biological processes:
    • dorsal/ventral pattern formation based on interactions with Gli3, Ptch1, Shh ^[5]
    • spinal cord motor neuron differentiation based on interactions with Gli3, Ptch1, Shh ^[5]

---

Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Dync2h1:
  • participates in the following biological processes:
    • Golgi organization
  • is located in the following cellular components:
    • Golgi apparatus
    • microtubule

---

Summary text based on GO annotations supported by structural data

• Dync2h1 encodes a protein or proteins that contain the following InterPro domains: AAA+ ATPase domain, ATPase, dynein-related, AAA domain, Cytoplasmic dynein 2 heavy chain 1, Dynein heavy chain, Dynein heavy chain domain, Dynein heavy chain, coiled coil stalk, Dynein heavy chain, domain-1, Dynein heavy chain, domain-2, Dynein heavy chain, P-loop containing D4 domain, indicating that the gene product:
  • participates in the following biological processes:
    • cell projection assembly
    • ciliary or flagellar motility
    • microtubule-based movement
  • performs the following molecular functions:
    • ATP binding
    • ATPase activity
    • microtubule motor activity
    • nucleoside-triphosphatase activity
    • nucleotide binding
  • is located in the following cellular components:
    • dynein complex

---

Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Dync2h1 indicates that it:
  • participates in the following biological processes:
    • cell projection organization
    • multicellular organismal development
  • performs the following molecular functions:
    • ATP binding
    • motor activity
    • nucleotide binding
  • is located in the following cellular components:
    • cell projection
    • cilium
    • cytoplasm
    • cytoskeleton
    • dynein complex
    • membrane
    • plasma membrane

---

References

1. Garcia-Garcia MJ et al. (2005) Inaugural Article: Analysis of mouse embryonic patterning and morphogenesis by forward genetics. Proc Natl Acad Sci U S A, 102:5913-9. (PubMed:15755804)
2. Huangfu D et al. (2005) Cilia and Hedgehog responsiveness in the mouse. Proc Natl Acad Sci U S A, 102:11325-30. (PubMed:16061793)
3. Liem KF Jr et al. (2012) The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking. J Cell Biol, 197:789-800. (PubMed:22689656)
4. May SR et al. (2005) Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli. Dev Biol, 287:378-89. (PubMed:16229832)
5. Ocbina PJ et al. (2011) Complex interactions between genes controlling trafficking in primary cilia. Nat Genet, 43:547-53. (PubMed:21552265)
6. Perrone CA et al. (2003) A novel dynein light intermediate chain colocalizes with the retrograde motor for intraflagellar transport at sites of axoneme assembly in chlamydomonas and Mammalian cells. Mol Biol Cell, 14:2041-56. (PubMed:12802074)

---

---

Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

---