Human Gene DYNC2LI1 (ENST00000398823.6) from GENCODE V44
Description: May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis (By similarity). (from UniProt Q8TCX1) RefSeq Summary (NM_015522): This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]. Gencode Transcript: ENST00000398823.6 Gencode Gene: ENSG00000138036.18 Transcript (Including UTRs) Position: hg38 chr2:43,774,064-43,795,183 Size: 21,120 Total Exon Count: 6 Strand: + Coding Region Position: hg38 chr2:43,774,139-43,792,790 Size: 18,652 Coding Exon Count: 6
ID:DC2L1_HUMAN DESCRIPTION: RecName: Full=Cytoplasmic dynein 2 light intermediate chain 1; Short=Dynein 2 light intermediate chain; FUNCTION: May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis (By similarity). SUBUNIT: The cytoplasmic dynein complex 2 is probably composed by a DYNC2H1 homodimer and a number of DYNC2LI1 light intermediate chains (By similarity). SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme (By similarity). Cytoplasm (By similarity). Note=Localizes to the apical cytoplasm (By similarity). SIMILARITY: Belongs to the dynein light intermediate chain family. SEQUENCE CAUTION: Sequence=AAD34055.1; Type=Frameshift; Positions=163, 167;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8TCX1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0003774 motor activity GO:0005515 protein binding GO:0045504 dynein heavy chain binding GO:0008569 ATP-dependent microtubule motor activity, minus-end-directed
Biological Process: GO:0007275 multicellular organism development GO:0007368 determination of left/right symmetry GO:0030030 cell projection organization GO:0035721 intraciliary retrograde transport GO:0035735 intraciliary transport involved in cilium assembly GO:0060271 cilium assembly GO:1902017 regulation of cilium assembly