Nature 417, 851-854 (2002) Letters to Nature

From supplementary data: "Details for Table 2" (List of human homologs under control of the same operon):

Ataxia telangiectasia (ATM)

B0261.4    Protein of unknown function, has weak similarity over central region to S. cerevisiae mitochondrial ribosomal protein L4 (Mrpl4p), has weak similarity to D. melanogaster RLC1
B0261.2    let-363 (Ce-tor): Member of the phosphatidylinositol kinase protein family
B0261.1    Transcription initiation factor TFIIIB, BdpI subunit


Neurofibromatosis, type 2
Batten's disease

C01G8.5   erm-1 close relative of human RDX, MSN and NF2 Ezrin; regulates cell adhesion and cortical morphogenesis, may link cytoskeleton and plasma membrane; member of a family of proteins that link cytoskeleton and plasma membrane
C01G8.4    dnj-4 related to yeast mdj1 Protein involved in mitochondrial biogenesis and protein folding, member of DnaJ family of protein chaperones
C01G8.3    dhs-1 related to human WWOX WW domain-containing protein; may function in steroid metabolism and interact with other proteins; regional similarity to short-chain dehydrogenase/reductase family
C01G8.2    cln-3.2 related to human cln3 Putative mitochondrial membrane protein, may have a role in chaperoning the folding/unfolding of other proteins


Amyotrophic lateral sclerosis (ALS)

C15F1.7   sod-1 Member of the superoxide dismutase, Cu/Zn protein family with strong similarity to human SOD1; appears to control an important determinant of aging in C. elegans
C15F1.6   art-1 Ortholog of human GPSN2, a protein with low similarity to a region of steroid 5 alpha-reductases
C15F1.5    Similar to human CHFR, May bind phosphotyrosine residues and mediate protein-protein interactions; contains a forkhead associated (FHA) domain, and a C₃HC₄ type (RING) zinc finger


Lowe syndrome

C16C2.3    Putative phosphatidylinositol (4,5) bisphosphate 5-phosphatase
C16C2.4    Protein with similarity to D. melanogaster SAP47 (Synapse-associated protein)
C04F12.10   fce-1 Putative ortholog of S. cerevisiae Ste24p, a prenyl-dependent protease, Prenyl-dependent protease involved both in the first N-terminal proteolytic step and in C-terminal CAAX processing of a-factor


Glaucome primary open angle

C48E7.4   Removed in WP118
C48E7.3   lpd-2 Protein of unknown function that has moderate similarity to H. sapiens CEBPG gene product (C/EBP), CCAAT/enhancer binding protein gamma
C48E7.2    Protein with similarity to human RPC62, RNA polymerase III subunit


Hereditary multiple exostoses

F12F6.5   tag-13 similar to ARHGAP4, Similar to GTPase-activating proteins; may function as a GTPase for the rho subfamily of GTP binding proteins; has an SH3 (Src homology 3) binding domain
F12F6.3    rib-1 Member of the EXT protein family (human multiple exostoses syndrome, a disease affecting bone morphogenesis), putative ortholog of human EXT1 and D. melanogaster TTV (tout-velu), Type II transmembrane glycoprotein in ER, dimer with EXT2 has glycosyltransferase activity, has role in cell surface heparan sulfate glycosaminoglycan synthesis


Werner's syndrome

F18C5.3    Protein with strong similarity to human DRIM, which is down-regulated in metastasis; Has a positively charged region and several HEAT repeats
F18C5.2    wrn-1 Putative ortholog of H. sapiens WRN gene product; DNA helicase of DEAD/DEAH family, has similarity to the human Werner's and Bloom's syndromes genes and to E. coli RecQ 3'-5' DNA helicase


Hermansky-Pudlak syndrome

F53H8.1    apt-7 Mu3 subunit of the heterotetrameric AP-3 adaptor complex; involved in targeting tyrosine-based proteins to lysosomes
C44C1.2    Predicted member of glycosyl hydrolase family 18


Friedreich ataxia

F59G1.2    tsp-18 tetraspanin, a trans-membrane protein
F59G1.8    Membrane coat complex Retromer, subunit VPS35
F59G1.3    vps-35 Putative ortholog of S. cerevisiae Vps35p, which is involved in vacuolar sorting
F59G1.1    Protein with strong similarity to human UDP-glucose ceramide glucosyltransferase UGCG, (glucosylceramide synthase, UDP-glucose:N-acylsphingosine D-glucosyltransferase); synthesizes glucosylceramide, functions in keratinocyte differentiation
F59G1.7    frh-1 Mitochondrial matrix protein frataxin, with strong similarity to human FRDA (Friedreich ataxia 1), involved in Fe/S protein biosynthesis
F59G1.5    stp-1, ptp-2 Protein tyrosine phosphatase Corkscrew and related SH2 domain enzymes
F28B12.3    Serine/threonine/tyrosine protein kinase of the casein kinase I subfamily, has similarity to human vaccinia-related kinases and casein kinase I isoforms, has similarity to S. cerevisiae Hrr25p casein kinase I


Hereditary non-polyposis colon cancer

H26D21.2    msh-2 Protein with similarity to the MutS family of DNA mismatch repair proteins
D1037.5    similar to human PLA2G6 Cytosolic calcium-independent phospholipase_a2; hydrolyzes the phospholipid sn-2 ester bond; member of the phospholipase family


Parkinson's disease, juvenile 2

K08E3.7    pdr-1 Ortholog of human parkin (PARK2, associated with Parkinson's disease), contains a C-terminal RING-type zinc finger domain
K08E3.8    mdt-29 protein of unknown function, Mitochondrial energy transfer proteins (carrier protein) has polyglutamine domain


Coffin-Lowry syndrome

T01H8.1    Serine/threonine protein kinase with strong similarity to human and D. melanogaster ribosomal S6 protein kinases
T01H8.2    Serine racemase, a member of the threonine/serine dehydratase protein family; catalyzes the first step in the isoleucine biosynthesis pathway, the conversion of threonine to alpha-ketobutyrate
T01H8.4    Removed in WP76


Myotubular myopathy

Y110A7A.8    Putative snoRNA binding domain
Y110A7A.7    6-Phosphofructo-2-kinase, Lipase, Zinc carboxypeptidases, carboxypeptidase A metalloprotease (M14) family, Lipases, serine active site, Zinc carboxypeptidases, zinc-binding region 2 signature
Y110A7A.6    phosphofructokinase
Y110A7A.5    mtm-1 Orthologous to human myotubularin (MTM1), negative regulator of let-512 (a phosphatidylinositol 3-kinase orthologous to yeast Vps34)
Y110A7A.4    thymidylate synthase


Fragile histidine triad

Y56A3A.21    Translocon-associated complex TRAP, delta subunit; translocates newly synthesized polypeptides across the endoplasmic reticulum membrane
Y56A3A.22    protein of unknown function (Pfam: DUF1279)
Y56A3A.13    nft-1 Protein with similarity to both nitrilase and FHIT (a tumor suppressor) from mammals, member of the Nit and NitFhit branch of the nitrilase superfamily, which also includes human NIT1 and NIT2, M. musculus Nit1 and Nit2, S. cerevisiae, Dinucleoside 5',5'-P1,P3-triphosphate (Ap3A) hydrolase


Menkes syndrome
Wilson's disease

Y76A2A.2    cua-1 Putative E1-E2 ATPase orthologous to human gene KIAA1347 [Copper-transporting P-type ATPase]
F45G2.10    rhr-1 protein of unknown function (Pfam: DUF59)
F45G2.9    homolog of human FJH1 Contains an FtsJ cell division protein domain
F45G2.8    homolog of mitochondrial precursor of granulocyte macrophage CSF signaling molecule; also shows 81% homology with myosin heavy chain
F45G2.7    protein of unknown function


Nevoid basal cell carcinoma syndrome

ZK675.1   ptc-1 Orthologous to Drosphila and human PTC; transmembrane glycoprotein family Patched/PTCH involved in sphingolipid metabolism
ZK675.2    Putative ortholog of S. cerevisiae Rev1p, a deoxycytidyl transferase involved in mutagenic translesion DNA synthesis

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