DRC3 Gene (Protein Coding)

Dynein Regulatory Complex Subunit 3

GC17P017973
GIFtS:
28
See more...

Aliases for DRC3 Gene

Aliases for DRC3 Gene

  • Dynein Regulatory Complex Subunit 3 2 3 4 5
  • Leucine-Rich Repeat-Containing Protein 48 3 4
  • Leucine Rich Repeat Containing 48 2 3
  • CFAP134 2 3
  • LRRC48 3 4
  • DKFZP586M1120 2
  • DRC3 5

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. Diseases associated with DRC3 include Smith-Magenis Syndrome and Primary Ciliary Dyskinesia. An important paralog of this gene is LRRCC1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for DRC3 Gene

Genomics for DRC3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DRC3 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DRC3

Genomic Locations for DRC3 Gene

Latest Assembly
chr17:17,972,766-18,016,889
(GRCh38/hg38)
Size:
44,124 bases
Orientation:
Plus strand

Previous Assembly
chr17:17,876,127-17,920,203
(GRCh37/hg19 by Entrez Gene)
Size:
44,077 bases
Orientation:
Plus strand

chr17:17,876,127-17,920,203
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for DRC3 Gene

Proteins for DRC3 Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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

Other Protein References for DRC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • 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

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

Protein Domains for DRC3 Gene

InterPro:
Blocks:
  • Leucine-rich repeat signature
ProtoNet:

Suggested Antigen Peptide Sequences for DRC3 Gene

GenScript: Design optimal peptide antigens:
  • Leucine rich repeat containing 48, isoform CRA_a (D3DXC5_HUMAN)
  • Leucine-rich repeat-containing protein 48 (LRC48_HUMAN)

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

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  1. Animal Models for research
  2. CRISPR products for research
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  6. Cell Lines for research

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

Gene Ontology (GO) - Molecular Function for DRC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with DRC3: view
genes like me logo Genes that share phenotypes with DRC3: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DRC3

Clone products for research

No data available for Enzyme Numbers (IUBMB) , 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:0005929 cilium IEA --
GO:0005930 axoneme IDA 26387594
GO:0031514 motile cilium 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

PathCards logo

SuperPathways 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

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  1. Drug products for research
No Compound Related Data Available

Transcripts for DRC3 Gene

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  1. CRISPR products for research
  2. miRNA products for research
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mRNA/cDNA for DRC3 Gene

4 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DRC3

Clone products for research

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

No ASD Table

Relevant External Links for DRC3 Gene

GeneLoc Exon Structure for
DRC3

Expression for DRC3 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30 31
  • 99.04 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia LRRC48 30 31
  • 85.92 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia LRRC48 30 31
  • 85.79 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Lrrc48 30 31
  • 83.43 (n)
 OneToOne
Drc3 17
Rat
(Rattus norvegicus)
 Mammalia Lrrc48 30
  • 82.92 (n)
Oppossum
(Monodelphis domestica)
 Mammalia LRRC48 31
  • 67 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia LRRC48 31
  • 67 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves LRRC48 30 31
  • 62.94 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia LRRC48 31
  • 57 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia lrrc48 30
  • 64.41 (n)
Zebrafish
(Danio rerio)
 Actinopterygii lrrc48 30 31
  • 59.21 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Ppr-Y 30 31
  • 46 (n)
 OneToMany
TbCMF46 31
  • 30 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP010129 30
  • 45.69 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SDS22 31
  • 17 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 52 (a)
 OneToOne
Species where no ortholog for DRC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DRC3 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs11656629 - p.Ala364Val
rs4584886 - p.Arg191Trp
rs8072048 - p.Arg159Gln

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DRC3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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 Assays for research

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

Disorders for DRC3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DRC3 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
smith-magenis syndrome
  • sms
primary ciliary dyskinesia
  • ciliary motility disorder
potocki-lupski syndrome
  • ptls
- elite association - COSMIC cancer census association via MalaCards
Search DRC3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DRC3

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DRC3: view

No data available for 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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
  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
  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

ExternalLinks

View latest publications for DRC3 gene in Mastermind

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