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Aliases for DRC3 Gene

Aliases for DRC3 Gene

  • Dynein Regulatory Complex Subunit 3 2 3 3 5
  • Leucine-Rich Repeat-Containing Protein 48 3 4
  • Leucine Rich Repeat Containing 48 2 3
  • LRRC48 3 4
  • CFAP134 3

External Ids for DRC3 Gene

Previous HGNC Symbols for DRC3 Gene

  • LRRC48

Summaries for DRC3 Gene

GeneCards Summary for DRC3 Gene

DRC3 (Dynein Regulatory Complex Subunit 3) is a Protein Coding gene. An important paralog of this gene is LRGUK.

UniProtKB/Swiss-Prot for DRC3 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.

Gene Wiki entry for DRC3 Gene

Additional gene information for DRC3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DRC3 Gene

Genomics for DRC3 Gene

GeneHancer (GH) Regulatory Elements for DRC3 Gene

Promoters and enhancers for DRC3 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
GH17J017970 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 661.3 -0.7 -717 3.1 HDGF PKNOX1 FOXA2 ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B YY1 SLC30A9 TOM1L2 DRC3 SMCR8 FOXO3B FLII ZNF286B USP32P2 SMCR5 MPRIP RAI1
GH17J017817 Promoter/Enhancer 2 Ensembl ENCODE dbSUPER 13.5 -149.8 -149792 10.7 HDGF PKNOX1 SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 GC17M017823 GC17M017824 LOC100419436 ENSG00000264885 DRG2 CCDC144B TOM1L2 ENSG00000197815 ZNF286B ENSG00000273018
GH17J018087 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.3 +115.4 115436 1.9 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 DRG2 ENSG00000264885 ZNF286B RAI1 FOXO3B SMCR8 LOC100419436 ENSG00000265511 SMCR5 ACTG1P24
GH17J018037 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.8 +66.4 66446 3.9 HDGF PKNOX1 MLX ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF207 ZNF143 GID4 ATPAF2 LOC100419436 TOM1L2 ZNF286B ENSG00000273018 ENSG00000264885 MPRIP-AS1 MPRIP RAI1
GH17J018780 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.4 +808.5 808529 2.2 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 POLR2B TVP23B MAPK7 FOXO3B SMCR8 DRG2 ENSG00000262202 ENSG00000264885 ENSG00000264932 TOP3A ZNF286B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DRC3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for DRC3 Gene

Genomic Locations for DRC3 Gene
chr17:17,972,780-18,016,889
(GRCh38/hg38)
Size:
44,110 bases
Orientation:
Plus strand
chr17:17,876,127-17,920,203
(GRCh37/hg19)
Size:
44,077 bases
Orientation:
Plus strand

Genomic View for DRC3 Gene

Genes around DRC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DRC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DRC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DRC3 Gene

Proteins for DRC3 Gene

  • Protein details for DRC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H069-DRC3_HUMAN
    Recommended name:
    Dynein regulatory complex subunit 3
    Protein Accession:
    Q9H069
    Secondary Accessions:
    • A8KAE6
    • Q86SF9
    • Q86W73
    • Q8IWG0

    Protein attributes for DRC3 Gene

    Size:
    523 amino acids
    Molecular mass:
    61054 Da
    Quaternary structure:
    • Component of the nexin-dynein regulatory complex (N-DRC). Interacts with TCTE1/DRC5.

    Alternative splice isoforms for DRC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DRC3 Gene

Post-translational modifications for DRC3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Boster Bio Antibodies for DRC3
  • Santa Cruz Biotechnology (SCBT) Antibodies for DRC3

No data available for DME Specific Peptides for DRC3 Gene

Domains & Families for DRC3 Gene

Gene Families for DRC3 Gene

Protein Domains for DRC3 Gene

Suggested Antigen Peptide Sequences for DRC3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H069

UniProtKB/Swiss-Prot:

DRC3_HUMAN :
  • Belongs to the DRC3 family.
Family:
  • Belongs to the DRC3 family.
genes like me logo Genes that share domains with DRC3: view

Function for DRC3 Gene

Molecular function for DRC3 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.

Phenotypes From GWAS Catalog for DRC3 Gene

genes like me logo Genes that share phenotypes with DRC3: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DRC3 Gene

Localization for DRC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DRC3 Gene

Cytoplasm, cytoskeleton, cilium axoneme. Cell projection, cilium. 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 DRC3 gene
Compartment Confidence
cytoskeleton 5
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for DRC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005856 cytoskeleton IEA --
GO:0005930 axoneme IDA 26387594
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with DRC3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DRC3 Gene

Pathways & Interactions for DRC3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DRC3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DRC3 Gene

Drugs & Compounds for DRC3 Gene

No Compound Related Data Available

Transcripts for DRC3 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DRC3 Gene

No ASD Table

Relevant External Links for DRC3 Gene

GeneLoc Exon Structure for
DRC3
ECgene alternative splicing isoforms for
DRC3

Expression for DRC3 Gene

NURSA nuclear receptor signaling pathways regulating expression of DRC3 Gene:

DRC3

Evidence on tissue expression from TISSUES for DRC3 Gene

  • Nervous system(4.3)
  • Lung(4.2)
  • Intestine(4)
genes like me logo Genes that share expression patterns with DRC3: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DRC3 Gene

Orthologs for DRC3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DRC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRRC48 34 33
  • 99.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LRRC48 34 33
  • 85.92 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LRRC48 34 33
  • 85.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lrrc48 34 33
  • 83.43 (n)
OneToOne
Drc3 16
rat
(Rattus norvegicus)
Mammalia Lrrc48 33
  • 82.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LRRC48 34
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRRC48 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRRC48 34 33
  • 62.94 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRRC48 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc48 33
  • 64.41 (n)
zebrafish
(Danio rerio)
Actinopterygii lrrc48 34 33
  • 59.21 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ppr-Y 34 33
  • 46 (n)
OneToMany
TbCMF46 34
  • 30 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010129 33
  • 45.69 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SDS22 34
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 52 (a)
OneToOne
Species where no ortholog for DRC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 DRC3 Gene

ENSEMBL:
Gene Tree for DRC3 (if available)
TreeFam:
Gene Tree for DRC3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DRC3: view image

Paralogs for DRC3 Gene

Paralogs for DRC3 Gene

genes like me logo Genes that share paralogs with DRC3: view

Variants for DRC3 Gene

Sequence variations from dbSNP and Humsavar for DRC3 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000170772 -- 18,011,005(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000190314 -- 18,011,876(+) G/T genic_downstream_transcript_variant, intron_variant
rs1000347638 -- 18,004,737(+) C/T downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000470998 -- 18,009,746(+) C/A downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000490206 -- 18,004,551(+) T/C downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DRC3 Gene

Variant ID Type Subtype PubMed ID
esv2668379 CNV deletion 23128226
esv3640139 CNV loss 21293372
nsv1132448 CNV duplication 24896259
nsv155 OTHER inversion 15895083
nsv499114 OTHER inversion 21111241
nsv510701 CNV deletion 20534489
nsv960428 CNV duplication 23825009

Variation tolerance for DRC3 Gene

Residual Variation Intolerance Score: 86.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.29; 62.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DRC3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DRC3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DRC3 Gene

Disorders for DRC3 Gene

No disorders were found for DRC3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DRC3 Gene

Publications for DRC3 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 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (PMID: 11997338) Bi W … Lupski JR (Genome research 2002) 2 3 58
  5. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 58

Products for DRC3 Gene

Sources for DRC3 Gene

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