*  The role of retrograde intraflagellar transport in flagellar assembly, maintenance, and function.
2 A; Engel et al., 2009a,b), immunofluorescence data showing that FLA10 remains concentrated at the peri-basal body region of ... 2011Complex interactions between genes controlling trafficking in primary cilia. Nat. Genet.43:547-55310.1038/ng.83221552265. ... 1 A) and appeared to have no ultrastructural defects in the axoneme or basal body (Fig. 1 D). However, after incubation for a ... D1bLIC was also displaced from the basal bodies of many dhc1b-3 cells, localizing to punctate spots throughout the cytoplasm. ...
  http://www.biomedsearch.com/nih/role-retrograde-intraflagellar-transport-in/23027906.html
*  Pathology Flashcards by John DeWaard | Brainscape
Gene products present in primary cilia, basal bodies attached to these cilia, or the centrosome organelles form which the basal ... Affected children may have hypertension in upper body and hypotension in lower body ... Mutations in genes which code for important structural components of basement mebranes of kidney, inner ear, and eye ... Enlargement of body organs, hemihypertrophy, renal medually cysts, and abnormal large cells in adrenal cortex (cytomegaly) ...
  https://www.brainscape.com/flashcards/pathology-6828613/packs/10860859
*  Knockdown of the Zebrafish Ortholog of the Retinitis Pigmentosa 2 (RP2) Gene Results in Retinal Degeneration | IOVS | ARVO...
Many ciliopathy-associated genes encode functional or structural components of primary cilia or basal bodies. Patients carrying ... RP2 is also a component of the basal bodies and binds the N-ethylmaleimide-sensitive factor, which supports a role in vesicular ... It showed there is one copy of this gene on chromosome 6. The genomic sequence around the putative zebrafish RP2 gene was used ... 12 Recent work has demonstrated that RP2 also localizes to the basal body, the Golgi complex, and the periciliary ridge of ...
  http://iovs.arvojournals.org/article.aspx?articleid=2165509
*  EVC2 Gene - GeneCards | LBN Protein | LBN Antibody
Complete information for EVC2 gene (Protein Coding), EvC Ciliary Complex Subunit 2, including: function, proteins, disorders, ... Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Cell projection, cilium membrane. Nucleus. Note=The EvC ... No data available for DME Specific Peptides for EVC2 Gene Domains & Families for EVC2 Gene Gene Families for EVC2 Gene. Human ... Summaries for EVC2 Gene Entrez Gene Summary for EVC2 Gene. * This gene encodes a protein that functions in bone formation and ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=EVC2
*  MKS1 Gene - GeneCards | MKS1 Protein | MKS1 Antibody
Complete information for MKS1 gene (Protein Coding), Meckel Syndrome, Type 1, including: function, proteins, disorders, ... The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated ... Subcellular locations from UniProtKB/Swiss-Prot for MKS1 Gene. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, ... No data available for DME Specific Peptides for MKS1 Gene Domains & Families for MKS1 Gene Gene Families for MKS1 Gene. HGNC:. ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKS1
*  IFT88 Gene - GeneCards | IFT88 Protein | IFT88 Antibody
Complete information for IFT88 gene (Protein Coding), Intraflagellar Transport 88, including: function, proteins, disorders, ... Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia. (PMID: 11251073) Taulman PD … ... No data available for DME Specific Peptides for IFT88 Gene Domains & Families for IFT88 Gene Gene Families for IFT88 Gene. HGNC ... Summaries for IFT88 Gene Entrez Gene Summary for IFT88 Gene. * This gene encodes a member of the tetratrico peptide repeat (TPR ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFT88
*  CC2D2A Gene - GeneCards | C2D2A Protein | C2D2A Antibody
Complete information for CC2D2A gene (Protein Coding), Coiled-Coil And C2 Domain Containing 2A, including: function, proteins, ... Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes at the transition zone, a region between the basal body and the ... No data available for DME Specific Peptides for CC2D2A Gene Domains & Families for CC2D2A Gene Gene Families for CC2D2A Gene. ... Summaries for CC2D2A Gene Entrez Gene Summary for CC2D2A Gene. * This gene encodes a coiled-coil and calcium binding domain ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=CC2D2A
*  LCA5 Gene - GeneCards | LCA5 Protein | LCA5 Antibody
Complete information for LCA5 gene (Protein Coding), LCA5, Lebercilin, including: function, proteins, disorders, pathways, ... Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule ... No data available for DME Specific Peptides for LCA5 Gene Domains & Families for LCA5 Gene Gene Families for LCA5 Gene. Human ... Summaries for LCA5 Gene Entrez Gene Summary for LCA5 Gene. * This gene encodes a protein that is thought to be involved in ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=LCA5
*  TMEM216 Gene - GeneCards | TM216 Protein | TM216 Antibody
Complete information for TMEM216 gene (Protein Coding), Transmembrane Protein 216, including: function, proteins, disorders, ... Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes at the transition zone, a region between the basal body and the ... No data available for DME Specific Peptides for TMEM216 Gene Domains & Families for TMEM216 Gene Gene Families for TMEM216 Gene ... Evolution for TMEM216 Gene. ENSEMBL:. Gene Tree for TMEM216 (if available). TreeFam:. Gene Tree for TMEM216 (if available). ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM216
*  TTLL6 Gene - GeneCards | TTLL6 Protein | TTLL6 Antibody
Complete information for TTLL6 gene (Protein Coding), Tubulin Tyrosine Ligase Like 6, including: function, proteins, disorders ... Cytoplasm, cytoskeleton, cilium basal body. Note=CEP41 is required for its transport between the basal body and the cilium. { ... No data available for DME Specific Peptides for TTLL6 Gene Domains & Families for TTLL6 Gene Gene Families for TTLL6 Gene. HGNC ... Evolution for TTLL6 Gene. ENSEMBL:. Gene Tree for TTLL6 (if available). TreeFam:. Gene Tree for TTLL6 (if available). ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL6
*  CEP131 Gene - GeneCards | CP131 Protein | CP131 Antibody
Complete information for CEP131 gene (Protein Coding), Centrosomal Protein 131, including: function, proteins, disorders, ... Cytoplasm, cytoskeleton, cilium basal body. Cytoplasmic vesicle, secretory vesicle, acrosome. Note=Colocalized with ... No data available for DME Specific Peptides for CEP131 Gene Domains & Families for CEP131 Gene Gene Families for CEP131 Gene. ... Evolution for CEP131 Gene. ENSEMBL:. Gene Tree for CEP131 (if available). TreeFam:. Gene Tree for CEP131 (if available). ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP131
*  B9D1 Gene - GeneCards | B9D1 Protein | B9D1 Antibody
Complete information for B9D1 gene (Protein Coding), B9 Domain Containing 1, including: function, proteins, disorders, pathways ... cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Note=Localizes at the transition zone, a region between the basal ... No data available for DME Specific Peptides for B9D1 Gene Domains & Families for B9D1 Gene Gene Families for B9D1 Gene. HGNC:. ... Summaries for B9D1 Gene Entrez Gene Summary for B9D1 Gene. * This gene encodes a B9 domain-containing protein, one of several ...
  http://www.genecards.org/cgi-bin/carddisp.pl?id=27077&id_type=entrezgene
*  KIAA0586 is mutated in Joubert syndrome - Zurich Open Repository and Archive
Biallelic mutations in one of 28 genes, all encoding proteins localizing to the primary cilium or basal body, can cause JS. ... Biallelic mutations in one of 28 genes, all encoding proteins localizing to the primary cilium or basal body, can cause JS. ... Despite this large number of genes, the genetic cause can currently be determined in about 62% of individuals with JS. To ... Despite this large number of genes, the genetic cause can currently be determined in about 62% of individuals with JS. To ...
  http://www.zora.uzh.ch/id/eprint/116191/
*  Prickle3 - Prickle planar cell polarity protein 3 - Mus musculus (Mouse) - Prickle3 gene & protein
Involved in the organization of the basal body (By similarity). Involved in cilia growth and positioning (By similarity). ... Involved in the organization of the basal body (By similarity). Involved in cilia growth and positioning (By similarity).By ... WTIP is involved in the recruitment of PRICKLE3 to the basal body (By similarity).By similarity. ,p>Manually curated ... This polarity is controlled by Wnt proteins (By similarity). WTIP is involved in the recruitment of PRICKLE3 to the basal body ...
  http://www.uniprot.org/uniprot/Q80VL3
*  poc1a TaqMan SNP Genotyping Assays
They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. ... Entrez Gene IDs. Gene Symbols. Gene Name. Assay IDs. Entrez Gene IDs. Gene Symbols. RefSeq Accession numbers. GenBank mRNA ... RNAdb IDs and Gene Symbols. Supported Keywords:. Gene Symbol. RefSeq mRNA Accession. Entrez Gene ID. UniGene ID. Gene Alias. ... Entrez Gene ID: e.g. "6262. Gene Symbol: e.g. "JAK2". Gene Name: e.g. "Janus kinase 2". RefSeq Accession #: e.g. "NM_007294". ...
  https://www.thermofisher.com/order/genome-database/browse/genotyping/keyword/POC1A
*  New Tetrahymena basal body protein components identify basal body domain structure | JCB
Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis. Cell. 117:527-539. ... with basal bodies) and cells depleted of γ-tubulin (without basal bodies) for 24 h. An enrichment of basal bodies in the γ- ... Each domain fulfills a role for basal bodies and their attached cilia. These poorly defined functions include basal body ... they migrate to the cell cortex to function as basal bodies for primary cilia formation. Like centrioles, basal bodies consist ...
  http://jcb.rupress.org/content/178/6/905
*  SDCCAG8 Gene - GeneCards | SDCG8 Protein | SDCG8 Antibody
Complete information for SDCCAG8 gene (Protein Coding), Serologically Defined Colon Cancer Antigen 8, including: function, ... FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins ... No data available for DME Specific Peptides for SDCCAG8 Gene Domains & Families for SDCCAG8 Gene Gene Families for SDCCAG8 Gene ... Summaries for SDCCAG8 Gene Entrez Gene Summary for SDCCAG8 Gene. * This gene encodes a centrosome associated protein. This ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8
*  Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity | Journal of Medical Genetics
... all of which encode proteins localising to the primary cilium or basal body.3 ,7 Primary cilia are microtubule-based organelles ... Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet ... Gene-specific mutation patterns provide insights into gene function. The observed gene-phenotype correlations, along with the ... Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome. Am J Hum Genet 2008;83:170-9. doi:10.1016/j. ...
  http://jmg.bmj.com/content/52/8/514
*  Cilium - The Web Video Encyclopedia
... the mutant gene products are the components in the basal body and cilia.[9] ... At the base of the cilium where it attaches to the cell body is the microtubule organizing center, the basal body. Some basal ... The ciliary rootlet is a cytoskeleton-like structure that originates from the basal body at the proximal end of a cilium. It ... Cilia can be divided into primary forms and motile forms.[5]. Primary/Immotile cilia[edit]. In animals, primary cilia are found ...
  http://www.mashpedia.com/Ciliated
*  Tuba4a - Tubulin alpha-4A chain - Mus musculus (Mouse) - Tuba4a gene & protein
R-MMU-5617833. Cilium Assembly. R-MMU-5620912. Anchoring of the basal body to the plasma membrane. R-MMU-5620924. ... R-MMU-5617833. Cilium Assembly. R-MMU-5620912. Anchoring of the basal body to the plasma membrane. R-MMU-5620924. ... p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of ... p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source ...
  http://www.uniprot.org/uniprot/P68368
*  TUBB4A - Tubulin beta-4A chain - Homo sapiens (Human) - TUBB4A gene & protein
R-HSA-5617833. Cilium Assembly. R-HSA-5620912. Anchoring of the basal body to the plasma membrane. R-HSA-5620924. ... R-HSA-5617833. Cilium Assembly. R-HSA-5620912. Anchoring of the basal body to the plasma membrane. R-HSA-5620924. ... help/gene_ontology' target='_top'>More...,/a>,/p>GO - Biological processi. *ciliary basal body-plasma membrane docking Source: ... "A de novo mutation in the beta-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ...
  http://www.uniprot.org/uniprot/P04350
*  Bardet-Biedl syndrome - Wikipedia
The gene products encoded by these BBS genes, called BBS proteins, are located in the basal body and cilia of the cell. Using ... Being Cilia Accessible article at Howard Hughes Medical Institute on the importance and extensive use of cilia and basal bodies ... New finding reported in October 2007: "hitherto unrecognized, but essential, role for mammalian basal body proteins in the ... "Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome". Nature. 425 (6958): 628-33. doi:10.1038/ ...
  https://en.wikipedia.org/wiki/Bardet%E2%80%93Biedl_syndrome
*  Peter K. Jackson | Stanford Medicine Profiles
... and basal body homeostasis, which are critical for cilia assembly and function. Recently, mutations in WDR34 or WDR60 ( ... An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium GENES & DEVELOPMENT Wright, K. J., Baye, L. M ... Cilia develop long-lasting contacts, with other cilia. Cilia Jackson, P. K. 2012; 1 (1): 5-? View details for DOI 10.1186/2046- ... which localizes to the basal body and contacts the BBSome. Strikingly, Rab8(GTP) enters the primary cilium and promotes ...
  https://med.stanford.edu/profiles/peter-jackson
*  C2cd3 is required for cilia formation and Hedgehog signaling in mouse | Development
C2cd3 protein is localized to the basal body of cilia. In order to better understand the roles of C2cd3 in cilia formation, we ... The formation of functional cilia is a complex process and requires a wide variety of genes. The lack of common structural ... presumably at the basal body (Fig. 9A). By labeling the two centrioles of the basal body with an anti-γ-tubulin antibody, we ... Basal body. INTRODUCTION. Cilia and flagella are cell surface organelles with microtubule-based axonemal cores. Although these ...
  http://dev.biologists.org/content/135/24/4049
*  Fibrocystin - Wikipedia
... protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in ... FPC associates with the primary cilia of epithelial cells and co-localizes with the Pkd2 gene product polycystin-2 (PC2), ... Mutations of its encoding gene (chromosomal locus 6p12.2) can cause autosomal recessive polycystic kidney disease. Zhang M, Mai ...
  https://en.wikipedia.org/wiki/Fibrocystin