Human Gene DRC1 (ENST00000288710.7) from GENCODE V44
  Description: Homo sapiens dynein regulatory complex subunit 1 (DRC1), mRNA. (from RefSeq NM_145038)
RefSeq Summary (NM_145038): This gene encodes a central component of the nexin-dynein complex (N-DRC), which regulates the assembly of ciliary dynein. Mutations in this gene can cause ciliary dyskinesia. [provided by RefSeq, Aug 2015].
Gencode Transcript: ENST00000288710.7
Gencode Gene: ENSG00000157856.12
Transcript (Including UTRs)
   Position: hg38 chr2:26,401,920-26,456,711 Size: 54,792 Total Exon Count: 17 Strand: +
Coding Region
   Position: hg38 chr2:26,401,990-26,456,517 Size: 54,528 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:26,401,920-26,456,711)mRNA (may differ from genome)Protein (740 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CC164_HUMAN
DESCRIPTION: RecName: Full=Coiled-coil domain-containing protein 164;
SIMILARITY: Belongs to the CCDC164 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DRC1
Diseases sorted by gene-association score: ciliary dyskinesia, primary, 21* (919), ciliary dyskinesia, primary, 1, with or without situs inversus* (200), kartagener syndrome* (158), primary ciliary dyskinesia 21: drc1-related primary ciliary dyskinesia* (100), primary ciliary dyskinesia (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 22.64 RPKM in Testis
Total median expression: 37.18 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -26.7070-0.381 Picture PostScript Text
3' UTR -64.80194-0.334 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  ModBase Predicted Comparative 3D Structure on Q96MC2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0007368 determination of left/right symmetry
GO:0007507 heart development
GO:0060285 cilium-dependent cell motility
GO:0070286 axonemal dynein complex assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005929 cilium
GO:0005930 axoneme
GO:0031514 motile cilium
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AK057222 - Homo sapiens cDNA FLJ32660 fis, clone TESTI1000051, weakly similar to CYTADHERENCE HIGH MOLECULAR WEIGHT PROTEIN 2.
AK289953 - Homo sapiens cDNA FLJ78365 complete cds.
AK307094 - Homo sapiens cDNA, FLJ97042.
AL833892 - Homo sapiens mRNA; cDNA DKFZp434F1830 (from clone DKFZp434F1830).
BC009488 - Homo sapiens CG10958-like, mRNA (cDNA clone IMAGE:3929220).
JD466132 - Sequence 447156 from Patent EP1572962.
JD304371 - Sequence 285395 from Patent EP1572962.
JD237246 - Sequence 218270 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: C2orf39, CC164_HUMAN, CCDC164, ENST00000288710.1, ENST00000288710.2, ENST00000288710.3, ENST00000288710.4, ENST00000288710.5, ENST00000288710.6, NM_145038, Q53R91, Q53TA3, Q8NDI5, Q96MC2, uc002rhg.1, uc002rhg.2, uc002rhg.3
UCSC ID: ENST00000288710.7
RefSeq Accession: NM_145038
Protein: Q96MC2 (aka CC164_HUMAN)
CCDS: CCDS1723.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DRC1:
pcd (Primary Ciliary Dyskinesia)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.