, 13 genes

Gene list file name:Blumenthal2002_table2
Type of gene identifier:Cosmid name
Description:Operons containing human disease gone orthologues, an expandedlist can be found in Blumenthal2002_suppDGO.txt, the Disease Gene Orthologue supplimentary file  
Organism:Caenorhabditis elegans (nematode)
Gene list type:Experimental

Gene name             Source Gene ID          Annotation                                                  Date       Added by    

B0261.2 B0261.2 P W All gene names: CE-TOR; let-363; B0261.2; 1F831; CE32559; CE32560; CeTor; NM_059148; NM_059151; WBGene00002583; WP:CE32559; WP:CE32560 WormBase description: let-363 encodes, by alternative splicing, two large (>2600-residue) proteins with C-terminal similarity to phosphatidylinositol kinase (PIK); LET-363 proteins are orthologous to S. cerevisiae Tor1p and Tor2p and human FRAP1 (OMIM:601231, mammalian target of FKBP12-rapamycin); LET-363 proteins are required for progression through the L3 stage of larval development and are thought to generally stimulate translation of most or all mRNAs ('global translation'); LET-363 activity is also necessary for normal development and physiology of the intestine; LET-363 proteins are expressed ubiquitously, including a maternal contribution to the early embryo.
C01G8.5 C01G8.5 P W All gene names: erm-1; C01G8.5; 1F852; CE07805; CE07806; NM_059158; NM_059159; P91016_CAEEL; WBGene00001333; WP:CE07805; WP:CE07806 WormBase description: The erm-1 gene encodes an ortholog of the ERM family of cytoskeletal linkers with approximately equal similarity to ezrin, radixin and moesin. WormBase CDS description: membrane protein
C15F1.7 C15F1.7 P W All gene names: sod-1; C15F1.7; C15F1.B; 2H264; CE20508; CE23550; NM_063030; WBGene00004930; WP:CE20508; WP:CE23550 WormBase description: The sod-1 gene encodes an ortholog of human SOD1 (OMIM:147450), which when mutated leads to amyotrophic lateral sclerosis (OMIM:105400).
C16C2.3 C16C2.3 P W All gene names: ocrl-1; C16C2.3; 1K292; CE17405; NM_060183; WBGene00007620; WP:CE17405 WormBase description: The C16C2.3 gene encodes an inositol-1,4,5-triphosphate 5-phosphatase homolog that is homologous to human OCRL. WormBase CDS description: inositol-1,4,5-triphosphate 5-phosphatase
C48E7.4 C48E7.4 P W
F12F6.3 F12F6.3 P W All gene names: rib-1; F12F6.3; 4M347; CE24898; NM_069779; WBGene00004360; WP:CE24898 WormBase description: The rib-1 gene encodes an ortholog of human EXT1, which when mutated leads to hereditary multiple exostoses, type I (OMIM:133700). WormBase CDS description: MULTIPLE EXOSTOSES HOMOLOG 1
F53H8.1 F53H8.1 P W All gene names: apm-3; apt-7; F53H8.1; CE35723; NM_075783; WBGene00000164; WP:CE35723; XB573 WormBase description: apt-7 gene encodes an adaptin, orthologous to the mu3 subunit of adaptor protein complex 3 (AP-3); APT-7 is also orthologous to human HPS, which when mutated leads to Hermansky-Pudlak syndrome (OMIM:203300); based on structural similarity, APT-7 may be involved in the formation of intracellular transport vesicles. WormBase CDS description: clathrin coat assembly protein
F59G1.7 F59G1.7 P W All gene names: frh-1; F59G1.7; 2G207; CE19476; NM_062782; WBGene00001486; WP:CE19476 WormBase description: frh-1 encodes the C. elegans frataxin ortholog;, by homology, FRH-1 is predicted to be a mitochondrial protein required for biogenesis of iron-sulfur clusters, co-factors necessary for proper function of electron transport chain proteins; in C. elegans, loss of frh-1 activity via RNAi results in small body size, pale coloration, reduced egg-laying and fertility, altered responses to oxidative stress, and a significant lifespan extension.
K08E3.7 K08E3.7 P W All gene names: pdr-1; K08E3.7; 3O861; CE31713; NM_067445; Q9XUS3_CAEEL; WBGene00003967; WP:CE31713 WormBase description: pdr-1 encodes an ortholog of human parkin (PARK2; OMIM:602544), which when mutated leads to the juvenile 2 form of Parkinson disease (OMIM:600116).
Y110A7A.5 Y110A7A.5 P W All gene names: mtm-1; Y110A7A.5; 1F705; CE30707; NM_059130; WBGene00003475; WP:CE30707 WormBase description: mtm-1 encodes an ortholog of human myotubularin (MTM1), which when mutated leads to myotubular myopathy (OMIM:310400); mtm-1(RNAi)suppresses the endocytosis defect of let-512 mutants, indicating that MTM-1 negatively regulates LET-512 (a phosphatidylinositol 3-kinase orthologous to yeast Vps34). WormBase CDS description: myotubularin-like protein
Y56A3A.13 Y56A3A.13 P W All gene names: nft-1; Y56A3A.13; 3N17; CE22580; NFT1_CAEEL; NM_067155; NitFhit; WBGene00003594; WP:CE22580 WormBase description: The nft-1 gene encodes an ortholog of human FHIT, which when mutated is associated with head and neck cancers (OMIM:601153).
Y76A2A.2 Y76A2A.2 P W All gene names: cua-1; tag-21; Y76A2A.2; 3O530; CE26305; NM_067377; WBGene00000834; WP:CE26305 WormBase description: The cua-1 gene encodes a putative E1-E2 ATPase orthologous to the human gene KIAA1347 (ATP7A; OMIM:604384), which when mutated leads to Hailey-Hailey disease. WormBase CDS description: Heavy-metal-associated domain containing proteins (2 domains), E1-E2 ATPases (2 domains)
ZK675.1 ZK675.1 P W All gene names: ptc-1; ZK675.1; 2I189; CE01720; NM_063261; WBGene00004208; WP:CE01720 WormBase description: ptc-1 encodes an ortholog of Drosophila PATCHED (PTC) and human PTCH (OMIM:601309, mutated in basal cell nevus syndrome), which defines one of seven paralogous families of sterol sensing domain (SSD) proteins; PTC-1 is required for cytokinesis in the germline, but not in somatic cells (the converse of PTR-2's function, and a role conserved in C. briggsae); PTC-1 is also required to isolate meiotic germline nuclei from one another so that their nuclear divisions are asynchronous; PTC-1 is (very weakly) required for normal molting; PTC-1 protein is found in the membranes of all germline cells except sperm; ptc-1 transcripts are present in germline, very early (2- and 4-cell) embryos, and in the germline precursor P4; ptc-1 null mutants have normal somatic tissues, but are sterile with multinucleate oocytes; murine PTCH is found in midbodies by mass tandem spectroscopy, indicating that PTC-1's function in cytokinesis may be conserved among metazoa; since PTC-1 has an SSD, PTC-1's core function may be to transport proteins, lipids, or sterols. WormBase CDS description: membrane protein patched