Table 2

Yeast genes comprising the Haploproficient Genome-Integrity (HPGI) set, along with their unique human orthologs, and functional annotations
Yeast gene Unique human ortholog Human ortholog function & OMIM cancer association (where applicable) Yeast gene product cell cycle-related function
BUB2 - - Mitotic exit network regulator; blocks cell cycle progression before anaphase in response to spindle and kinetochore damage
CCR4 CNOT6 CCR4-NOT transcription complex, subunit 6 Component of the CCR4-NOT transcriptional complex
CDC34 UBE2R2 Ubiquitin-conjugating enzyme E2R 2 Ubiquitin-conjugating enzyme (E2) and catalytic subunit of SCF ubiquitin-protein ligase complex that regulates cell cycle progression by targeting key substrates for degradation
CHK1 CHEK1 Serine/threonine kinase and DNA damage checkpoint effector Serine/threonine kinase and DNA damage checkpoint effector
CLB1 CCNB1 Cyclin B1 B-type cyclin involved in cell cycle progression; activates Cdc28p to promote the transition from G2 to M phase
CTF8 CHTF8 Subunit of a complex with Ctf18p that shares some subunits with Replication Factor C and is required for sister chromatid cohesion Subunit of a complex with Ctf18p that shares some subunits with Replication Factor C and is required for sister chromatid cohesion
DBF2 - - Ser/Thr kinase involved in transcription and stress response; functions as part of a network of genes in exit from mitosis.
DNL4 LIG4 DNA ligase required for non-homologous end-joining; OMIM: Lig4 syndrome DNA ligase required for nonhomologous end-joining (NHEJ)
IDP1 IDH1 Isocitrate dehydrogenase 1 (NADP+); OMIM: Oligodendroglioma; piloytic astrocytoma Mitochondrial NADP-specific isocitrate dehydrogenase, catalyzes the oxidation of isocitrate to alpha-ketoglutarate
IRR1 STAG1 Stromal antigen 1 Subunit of the cohesin complex, required for sister chromatid cohesion during mitosis and meiosis
MAD1 MAD1L1 Component of the spindle-assembly checkpoint Coiled-coil protein involved in the spindle-assembly checkpoint; forms a complex with Mad2p
MEU1 MTAP Methylthioadenosine phosphorylase; OMIM: Glioma Methylthioadenosine phosphorylase
MLH1 MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 Protein required for mismatch repair in mitosis
MSH2 MSH2 mutS homolog 2, colon cancer, nonpolyposis type 1; OMIM: colorectal cancer Protein required for mismatch repair in mitosis
MUS81 MUS81 MUS81 endonuclease homolog; OMIM: Bloom syndrome (predisposition to leukemias, lymphomas & carcinomas) Subunit of the Mms4p-Mus81p endonuclease that cleaves branched DNA; involved in DNA repair, replication fork stability
RAD1 ERCC4 Excision repair cross-complementing rodent repair deficiency, complementation group 4; OMIM: Xeroderma pigmentosum (predisposition to basal cell carcinoma & melanoma) Single-stranded DNA endonuclease (with Rad10p), cleaves single-stranded DNA during nucleotide excision repair and double-strand break repair
RAD54 RAD54L RAD54-like; OMIM: Lymphoma, non-Hodgkin DNA-dependent ATPase, stimulates strand exchange by modifying the topology of double-stranded DNA; recombinational repair of double-strand breaks in DNA
RAD61 - - Subunit of a complex (Scc3p, Pds5p, Rad61p) that inhibits sister chromatid cohesion
RAD9 RAD9 - DNA damage-dependent checkpoint protein, required for cell-cycle arrest in G1/S, intra-S, and G2/M; transmits checkpoint signal by activating Rad53p and Chk1p
SMC2 SMC2 Structural maintenance of chromosomes 2 Subunit of the condensin complex
STP22 TSG101 Tumor susceptibility gene 101; OMIM: Breast cancer Component of the ESCRT-I complex
TOP1 TOP1 Topoisomerase (DNA) I Topoisomerase I
TOP2 TOP2B Topoisomerase (DNA) II beta 180kDa Topoisomerase II
TPD3 PPP2R1B Protein phosphatase 2, regulatory subunit A, beta; OMIM: Lung cancer Regulatory subunit A of the heterotrimeric protein phosphatase 2A (PP2A)
TUM1 TST Thiosulfate sulfurtransferase (rhodanese); OMIM: Tumours Rhodanese domain sulfur transferase
UBX4 ASPSCR1 Alveolar soft part sarcoma chromosome region, candidate 1; OMIM: Alveolar soft-part sarcoma UBX (ubiquitin regulatory X) domain-containing protein that interacts with Cdc48p
YCG1 NCAPG non-SMC condensin I complex, subunit G Subunit of the condensin complex
RIM11 GSK3A Glycogen synthase kinase 3 alpha Protein kinase required for signal transduction during entry into meiosis
NBP2 SH3GL1 SH3-domain GRB2-like 1; OMIM: Acute myeloid leukemia Protein involved in the HOG (high osmolarity glycerol) pathway, contains an SH3 domain that binds Pbs2p
PBS2 MAP2K1 MAP kinase kinase MAP kinase kinase of the HOG signaling pathway; mediates cell cycle arrest

de Clare and Oliver

de Clare and Oliver BMC Biology 2013 11:24   doi:10.1186/1741-7007-11-24

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