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] See more...

Aliases for DRC1 Gene

Aliases for DRC1 Gene

  • Dynein Regulatory Complex Subunit 1 2 3 5
  • Coiled-Coil Domain-Containing Protein 164 3 4
  • Dynein Regulatory Complex Protein 1 3 4
  • C2orf39 3 4
  • CCDC164 3 4
  • Dynein Regulatory Complex Subunit 1 Homolog (Chlamydomonas) 2
  • Chromosome 2 Open Reading Frame 39 2
  • Coiled-Coil Domain Containing 164 2
  • CILD21 3

External Ids for DRC1 Gene

Previous HGNC Symbols for DRC1 Gene

  • C2orf39
  • CCDC164

Previous GeneCards Identifiers for DRC1 Gene

  • GC02P026626

Summaries for DRC1 Gene

Entrez Gene Summary for DRC1 Gene

  • 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]

GeneCards Summary for DRC1 Gene

DRC1 (Dynein Regulatory Complex Subunit 1) is a Protein Coding gene. Diseases associated with DRC1 include Ciliary Dyskinesia, Primary, 21 and Primary Ciliary Dyskinesia. An important paralog of this gene is CCDC65.

UniProtKB/Swiss-Prot Summary for DRC1 Gene

  • Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes (By similarity). Plays a critical role in the assembly of N-DRC and also stabilizes the assembly of multiple inner dynein arms and radial spokes. Coassembles with CCDC65/DRC2 to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet microtubules (PubMed:23354437).

Additional gene information for DRC1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DRC1 Gene

Genomics for DRC1 Gene

GeneHancer (GH) Regulatory Elements for DRC1 Gene

Promoters and enhancers for DRC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J026401 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +0.2 150 1.5 ZNF121 ZBTB8A RFX1 POLR2A ZNF692 ZFX ZBTB48 BMI1 ZBTB17 ZNF217 DRC1 ADGRF3 piR-50437-363
GH02J026298 Promoter/Enhancer 1.9 EPDnew FANTOM5 ENCODE CraniofacialAtlas dbSUPER 10.7 -102.1 -102103 3.4 ETV6 MAX ZNF652 SP1 BCL6B PRDM1 EGR1 IKZF1 RFX1 IKZF2 ENSG00000286707 LOC105374334 lnc-SELENOI-1 SELENOI HADHB HADHA ADGRF3 ASXL2 ATRAID CAD
GH02J026454 Enhancer 1.1 Ensembl ENCODE 11.4 +56.7 56685 11.2 CTCF LCORL RBPJ NR2F1 NR2F6 ZNF362 MIXL1 NFYC RAD21 DACH1 DRC1 ADGRF3 SELENOI HADHB lnc-ADGRF3-4 piR-57460-365 OTOF
GH02J026490 Enhancer 1.2 FANTOM5 Ensembl ENCODE 10.1 +92.6 92585 7.8 SMARCE1 L3MBTL2 TEAD4 SP1 SMARCA4 MTA1 IKZF1 PKNOX1 RXRA ZNF512 OTOF FAM166C DRC1 DPYSL5 RAB10 MPV17 KRTCAP3 GAREM2 lnc-ADGRF3-4 lnc-CIB4-3
GH02J026410 Enhancer 1.2 FANTOM5 ENCODE 6.1 +10.0 10001 2.5 ZBTB40 SMARCE1 MYC CC2D1A HLF L3MBTL2 MAX TEAD4 ZKSCAN8 ZNF148 piR-50437-363 ATRAID EMILIN1 HADHA OST4 RAB10 SELENOI DRC1 ADGRF3 CENPA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DRC1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for DRC1 Gene

Genomic Locations for DRC1 Gene
chr2:26,401,916-26,456,713
(GRCh38/hg38)
Size:
54,798 bases
Orientation:
Plus strand
chr2:26,624,784-26,679,579
(GRCh37/hg19)
Size:
54,796 bases
Orientation:
Plus strand

Genomic View for DRC1 Gene

Genes around DRC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DRC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DRC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DRC1 Gene

Proteins for DRC1 Gene

  • Protein details for DRC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MC2-DRC1_HUMAN
    Recommended name:
    Dynein regulatory complex protein 1
    Protein Accession:
    Q96MC2
    Secondary Accessions:
    • A8K1N8
    • Q53R91
    • Q53TA3
    • Q8NDI5

    Protein attributes for DRC1 Gene

    Size:
    740 amino acids
    Molecular mass:
    87134 Da
    Quaternary structure:
    • Component of the nexin-dynein regulatory complex (N-DRC).

neXtProt entry for DRC1 Gene

Post-translational modifications for DRC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DRC1 Gene

No data available for DME Specific Peptides for DRC1 Gene

Domains & Families for DRC1 Gene

Gene Families for DRC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for DRC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DRC1 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 164 (CC164_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96MC2

UniProtKB/Swiss-Prot:

DRC1_HUMAN :
  • Belongs to the DRC1 family.
Family:
  • Belongs to the DRC1 family.
genes like me logo Genes that share domains with DRC1: view

Function for DRC1 Gene

Molecular function for DRC1 Gene

UniProtKB/Swiss-Prot Function:
Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes (By similarity). Plays a critical role in the assembly of N-DRC and also stabilizes the assembly of multiple inner dynein arms and radial spokes. Coassembles with CCDC65/DRC2 to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet microtubules (PubMed:23354437).

Phenotypes From GWAS Catalog for DRC1 Gene

genes like me logo Genes that share phenotypes with DRC1: view

Human Phenotype Ontology for DRC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DRC1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DRC1 Gene

Localization for DRC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DRC1 Gene

Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, flagellum axoneme.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DRC1 gene
Compartment Confidence
cytoskeleton 4
nucleus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for DRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005858 axonemal dynein complex IEA --
GO:0005929 cilium IEA --
GO:0005930 axoneme IBA,ISS --
genes like me logo Genes that share ontologies with DRC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DRC1 Gene

Pathways & Interactions for DRC1 Gene

PathCards logo

SuperPathways for DRC1 Gene

No Data Available

Interacting Proteins for DRC1 Gene

Gene Ontology (GO) - Biological Process for DRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003352 regulation of cilium movement IBA 21873635
GO:0007368 determination of left/right symmetry IEA --
GO:0007507 heart development IEA --
GO:0060285 cilium-dependent cell motility IMP,IBA 23354437
GO:0070286 axonemal dynein complex assembly IEA,IMP 23354437
genes like me logo Genes that share ontologies with DRC1: view

No data available for Pathways by source and SIGNOR curated interactions for DRC1 Gene

Drugs & Compounds for DRC1 Gene

No Compound Related Data Available

Transcripts for DRC1 Gene

mRNA/cDNA for DRC1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DRC1

Alternative Splicing Database (ASD) splice patterns (SP) for DRC1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
SP1: - - -
SP2: - -
SP3: - - -
SP4:
SP5:
SP6:

Relevant External Links for DRC1 Gene

GeneLoc Exon Structure for
DRC1
ECgene alternative splicing isoforms for
DRC1

Expression for DRC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DRC1 Gene

mRNA differential expression in normal tissues according to GTEx for DRC1 Gene

This gene is overexpressed in Testis (x17.8) and Brain - Hypothalamus (x4.9).

Protein differential expression in normal tissues from HIPED for DRC1 Gene

This gene is overexpressed in Adipocyte (67.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DRC1 Gene



Protein tissue co-expression partners for DRC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DRC1 Gene:

DRC1

SOURCE GeneReport for Unigene cluster for DRC1 Gene:

Hs.393714

Evidence on tissue expression from TISSUES for DRC1 Gene

  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DRC1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • lung
  • trachea
Abdomen:
  • spleen
Pelvis:
  • ovary
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns with DRC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for DRC1 Gene

Orthologs for DRC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DRC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC164 33 32
  • 99.5 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC164 32
  • 86.29 (n)
DRC1 33
  • 86 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DRC1 33 32
  • 85.02 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Drc1 17 33 32
  • 79.21 (n)
rat
(Rattus norvegicus)
Mammalia Drc1 32
  • 79.09 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 77 (a)
OneToMany
-- 33
  • 68 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia DRC1 33
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC164 32
  • 63.47 (n)
DRC1 33
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DRC1 33
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia drc1 32
  • 62.1 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68877 32
zebrafish
(Danio rerio)
Actinopterygii drc1 33 32
  • 59.23 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9642 32
fruit fly
(Drosophila melanogaster)
Insecta CG10958 33 32
  • 44.64 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002143 32
  • 42.53 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 47 (a)
OneToOne
Species where no ortholog for DRC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DRC1 Gene

ENSEMBL:
Gene Tree for DRC1 (if available)
TreeFam:
Gene Tree for DRC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DRC1: view image

Paralogs for DRC1 Gene

Paralogs for DRC1 Gene

genes like me logo Genes that share paralogs with DRC1: view

Variants for DRC1 Gene

Sequence variations from dbSNP and Humsavar for DRC1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1060501406 uncertain-significance, Ciliary dyskinesia 26,440,474(+) G/A coding_sequence_variant, intron_variant, missense_variant
rs114106015 benign, Ciliary dyskinesia 26,455,137(+) C/G/T coding_sequence_variant, synonymous_variant
rs115095929 benign, Ciliary dyskinesia 26,455,214(+) A/C coding_sequence_variant, missense_variant
rs1160786100 uncertain-significance, Ciliary dyskinesia 26,429,703(+) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs116119084 benign, Ciliary dyskinesia 26,454,728(+) A/G coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for DRC1 Gene

Variant ID Type Subtype PubMed ID
esv2657536 CNV deletion 23128226
esv33316 CNV loss 17666407
esv3583675 CNV loss 25503493
esv3590122 CNV loss 21293372
nsv517800 CNV loss 19592680

Variation tolerance for DRC1 Gene

Residual Variation Intolerance Score: 97.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.63; 95.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DRC1 Gene

Human Gene Mutation Database (HGMD)
DRC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DRC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DRC1 Gene

Disorders for DRC1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DRC1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DRC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DRC1_HUMAN
  • Ciliary dyskinesia, primary, 21 (CILD21) [MIM:615294]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269 PubMed:23354437, ECO:0000269 PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DRC1

genes like me logo Genes that share disorders with DRC1: view

No data available for Genatlas for DRC1 Gene

Publications for DRC1 Gene

  1. The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. (PMID: 23354437) Wirschell M … Omran H (Nature genetics 2013) 2 3 4 56
  2. Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. (PMID: 25186273) Raidt J … Werner C (The European respiratory journal 2014) 3 4 56
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 56

Products for DRC1 Gene

Sources for DRC1 Gene