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Aliases for DRC7 Gene

Aliases for DRC7 Gene

  • Dynein Regulatory Complex Subunit 7 2 3 5
  • Coiled-Coil Domain-Containing Protein Lobo Homolog 3 4
  • Coiled-Coil Domain-Containing Protein 135 3 4
  • Coiled-Coil Domain Containing 135 2 3
  • C16orf50 3 4
  • CCDC135 3 4
  • Chromosome 16 Open Reading Frame 50 2
  • CFAP50 3
  • FAP50 3

External Ids for DRC7 Gene

Previous HGNC Symbols for DRC7 Gene

  • C16orf50
  • CCDC135

Summaries for DRC7 Gene

GeneCards Summary for DRC7 Gene

DRC7 (Dynein Regulatory Complex Subunit 7) is a Protein Coding gene. Diseases associated with DRC7 include meckel syndrome 1 and joubert syndrome 1.

UniProtKB/Swiss-Prot for DRC7 Gene

  • Key component of the nexin-dynein regulatory complex (N-DRC), essential for N-DRC integrity. Involved in the regulation of flagellar motility.

Gene Wiki entry for DRC7 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DRC7 Gene

Genomics for DRC7 Gene

Regulatory Elements for DRC7 Gene

Promoters for DRC7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DRC7 on UCSC Golden Path with GeneCards custom track

Genomic Location for DRC7 Gene

Chromosome:
16
Start:
57,694,793 bp from pter
End:
57,731,805 bp from pter
Size:
37,013 bases
Orientation:
Plus strand

Genomic View for DRC7 Gene

Genes around DRC7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DRC7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DRC7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DRC7 Gene

Proteins for DRC7 Gene

  • Protein details for DRC7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IY82-DRC7_HUMAN
    Recommended name:
    Dynein regulatory complex subunit 7
    Protein Accession:
    Q8IY82
    Secondary Accessions:
    • A8K943
    • Q8NAA0
    • Q9H080

    Protein attributes for DRC7 Gene

    Size:
    874 amino acids
    Molecular mass:
    103497 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DRC7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DRC7 Gene

Proteomics data for DRC7 Gene at MOPED

Post-translational modifications for DRC7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DRC7 Gene

Domains & Families for DRC7 Gene

Gene Families for DRC7 Gene

Protein Domains for DRC7 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for DRC7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IY82

UniProtKB/Swiss-Prot:

DRC7_HUMAN :
  • Belongs to the DRC7 family.
Family:
  • Belongs to the DRC7 family.
genes like me logo Genes that share domains with DRC7: view

Function for DRC7 Gene

Molecular function for DRC7 Gene

UniProtKB/Swiss-Prot Function:
Key component of the nexin-dynein regulatory complex (N-DRC), essential for N-DRC integrity. Involved in the regulation of flagellar motility.
genes like me logo Genes that share phenotypes with DRC7: view

Animal Model 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 DRC7 Gene

Localization for DRC7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DRC7 Gene

Cell projection, cilium, flagellum. Cytoplasm, cytoskeleton, cilium axoneme. Note=Associated with the outer doublet microtubules (OD). {ECO:0000250 UniProtKB:A8JAM0}.

Gene Ontology (GO) - Cellular Components for DRC7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with DRC7: view

No data available for Subcellular locations from COMPARTMENTS for DRC7 Gene

Pathways & Interactions for DRC7 Gene

SuperPathways for DRC7 Gene

No Data Available

Interacting Proteins for DRC7 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000353942%0d%0a9606.ENSP00000399718%0d%0a
Selected Interacting proteins: Q8IY82-DRC7_HUMAN ENSP00000353942 for DRC7 Gene via I2D UniProtKB STRING

Gene Ontology (GO) - Biological Process for DRC7 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DRC7 Gene

Drugs & Compounds for DRC7 Gene

No Compound Related Data Available

Transcripts for DRC7 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for DRC7 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20
SP1: -
SP2: - -
SP3:
SP4:

Relevant External Links for DRC7 Gene

GeneLoc Exon Structure for
DRC7
ECgene alternative splicing isoforms for
DRC7

Expression for DRC7 Gene

mRNA expression in normal human tissues for DRC7 Gene

Protein differential expression in normal tissues from HIPED for DRC7 Gene

This gene is overexpressed in Plasma (24.4), Pancreas (20.6), Skin (16.2), and Platelet (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DRC7 Gene



genes like me logo Genes that share expression patterns with DRC7: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for DRC7 Gene

Orthologs for DRC7 Gene

This gene was present in the common ancestor of animals.

Orthologs for DRC7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CCDC135 35
  • 87.77 (n)
  • 87.04 (a)
CCDC135 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC135 35
  • 86.84 (n)
  • 85.11 (a)
CCDC135 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc135 35
  • 83.56 (n)
  • 83.18 (a)
Drc7 16
Ccdc135 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CCDC135 35
  • 94.28 (n)
  • 92.92 (a)
CCDC135 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc135 35
  • 83.66 (n)
  • 84.19 (a)
oppossum
(Monodelphis domestica)
Mammalia CCDC135 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC135 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC135 35
  • 64.25 (n)
  • 58.16 (a)
CCDC135 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 64 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc135 35
  • 60.15 (n)
  • 57.26 (a)
Str.5324 35
zebrafish
(Danio rerio)
Actinopterygii LOC555782 35
  • 54.63 (n)
  • 47.44 (a)
ccdc135 36
  • 47 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002677 35
  • 49.75 (n)
  • 34.12 (a)
fruit fly
(Drosophila melanogaster)
Insecta lobo 35
  • 45.55 (n)
  • 31.48 (a)
lobo 36
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToOne
Species with no ortholog for DRC7:
  • 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)
  • 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)
  • 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 DRC7 Gene

ENSEMBL:
Gene Tree for DRC7 (if available)
TreeFam:
Gene Tree for DRC7 (if available)

Paralogs for DRC7 Gene

No data available for Paralogs for DRC7 Gene

Variants for DRC7 Gene

Sequence variations from dbSNP and Humsavar for DRC7 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs7196016 - 57,701,988(+) GAACT(C/G)CTTTG intron-variant, reference, missense
rs3809611 - 57,722,731(-) CGTTC(A/C/G)GGCAG intron-variant, reference, missense
rs2923144 - 57,724,820(+) TCAAA(A/C)CCCCG reference, missense
rs2923147 - 57,728,489(+) TAACA(C/T)GCTGG reference, missense
rs11649000 - 57,699,004(+) ACCCC(A/C)TGAAC reference, missense

Variation tolerance for DRC7 Gene

Residual Variation Intolerance Score: 89.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 20.04; 99.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DRC7 Gene

HapMap Linkage Disequilibrium report
DRC7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DRC7 Gene

Disorders for DRC7 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DRC7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
meckel syndrome 1
  • meckel syndrome
joubert syndrome 1
  • joubert syndrome
- elite association - COSMIC cancer census association via MalaCards
Search DRC7 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DRC7

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DRC7
genes like me logo Genes that share disorders with DRC7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DRC7 Gene

Publications for DRC7 Gene

  1. Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment. (PMID: 22983010) Zhang D. … Aravind L. (Cell Cycle 2012) 2 3 67
  2. Regulation of flagellar motility by the conserved flagellar protein CG34110/Ccdc135/FAP50. (PMID: 21289096) Yang Y. … Lu X. (Mol. Biol. Cell 2011) 2 3
  3. Promyelocytic Leukemia protein (PML) interacts with ASC to limit Inflammasome Activation. (PMID: 24407287) Dowling J.K. … O'Neill L.A. (J. Biol. Chem. 2014) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for DRC7 Gene

Sources for DRC7 Gene

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