TERT and ATPAF2

		TERT	ATPAF2
Description		telomerase reverse transcriptase	ATP synthase mitochondrial F1 complex assembly factor 2
Image			No pdb structure
GO Annotations	Cellular Component	Telomerase Catalytic Core Complex Chromosome, Telomeric Region Nuclear Telomere Cap Complex Nucleus Nucleoplasm Chromosome Telomerase Holoenzyme Complex Nucleolus Cytoplasm Mitochondrion Cytosol Plasma Membrane PML Body Nuclear Speck RNA-directed RNA Polymerase Complex Mitochondrial Nucleoid TERT-RMRP Complex Ribonucleoprotein Complex	Mitochondrion Mitochondrial Inner Membrane Cytosol Membrane Nuclear Speck
	Molecular Function	TRNA Binding Transcription Coactivator Binding DNA Binding Telomerase Activity RNA Binding RNA-directed DNA Polymerase Activity RNA-directed RNA Polymerase Activity Protein Binding Transferase Activity Nucleotidyltransferase Activity DNA Polymerase Activity Telomeric DNA Binding Identical Protein Binding Protein Homodimerization Activity Metal Ion Binding Protein-folding Chaperone Binding Telomerase RNA Binding Template-free RNA Nucleotidyltransferase	Protein Binding
	Biological Process	Telomere Maintenance Via Recombination Telomere Maintenance RNA-templated Transcription RNA-templated DNA Biosynthetic Process Protein Import Into Nucleus Telomere Maintenance Via Telomerase Mitochondrion Organization Heart Development DNA Strand Elongation Positive Regulation Of Wnt Signaling Pathway SiRNA Processing Regulation Of Protein Stability Positive Regulation Of Hair Cycle Negative Regulation Of Apoptotic Process Negative Regulation Of Neuron Apoptotic Process Positive Regulation Of Angiogenesis Positive Regulation Of D-glucose Import Response To Cadmium Ion Establishment Of Protein Localization To Telomere Cellular Response To Hypoxia DNA Biosynthetic Process Replicative Senescence SiRNA Transcription Positive Regulation Of G1/S Transition Of Mitotic Cell Cycle Positive Regulation Of MiRNA Transcription Positive Regulation Of Transdifferentiation Positive Regulation Of Vascular Associated Smooth Muscle Cell Proliferation Positive Regulation Of Protein Localization To Nucleolus Positive Regulation Of Vascular Associated Smooth Muscle Cell Migration Negative Regulation Of Endothelial Cell Apoptotic Process Positive Regulation Of Stem Cell Proliferation Negative Regulation Of Cellular Senescence Negative Regulation Of Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand	Mitochondrial Proton-transporting ATP Synthase Complex Assembly Proton-transporting ATP Synthase Complex Assembly
Pathways		Telomere Extension By Telomerase Formation of the beta-catenin:TCF transactivating complex Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence
Drugs		Zidovudine Grn163l Tertomotide
Diseases		Cri du chat syndrome; Cat cry syndrome; Chromosme 5p deletion syndrome	Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
GWAS		Adult diffuse glioma (IDH wildtype) ( 32386320) Adult diffuse glioma (TERT mutation only) ( 32386320) Basal cell carcinoma ( 19151717 24403052 25855136 31174203 33549134) Benign prostatic hyperplasia and lower urinary tract symptoms ( 30410027) Bladder cancer ( 20972438 24163127) Breast cancer ( 22037553 23535729 23535733 27117709 28171663 29059683) Breast cancer (estrogen-receptor negative) ( 27117709 28171663 29058716) Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) ( 24325915) Breast Cancer in BRCA1 mutation carriers ( 29058716) Cancer (pleiotropy) ( 27197191) Chronic lymphocytic leukemia ( 26956414 28165464) Chronic lymphocytic leukemia or systemic lupus erythematosus ( 31407831) Colorectal cancer ( 30529582 31826910) Colorectal cancer or advanced adenoma ( 30510241) Cutaneous malignant melanoma ( 32341527) EGFR mutation-positive lung adenocarcinoma ( 27501781) Eosinophil count ( 32888494) Eosinophil percentage of white cells ( 32888494) Epithelial ovarian cancer ( 25581431) Glioblastoma ( 28346443 29743610) Glioblastoma (age-stratified) ( 30152087) Glioma ( 19578367 21531791 21827660 22886559 28346443 29743610 30714141) Glioma (high-grade) ( 24908248) Granulocyte count ( 27863252) HDL cholesterol levels ( 32203549) Hematocrit ( 32888494) Idiopathic pulmonary fibrosis ( 18835860 31710517) Interstitial lung disease ( 23583980) Intrinsic epigenetic age acceleration ( 29374233) Keratinocyte cancer (MTAG) ( 31174203) Leukocyte telomere length ( 31171785 32109421) Lung adenocarcinoma ( 19836008 20700438 20871597 22797724 27393504 28604730) Lung cancer ( 18978790 21725308 23143601 27393504 31577861) Lung cancer in never smokers ( 28604730 31009812) Lymphocyte percentage of white cells ( 32888494) Mean corpuscular hemoglobin ( 27863252 28017375 29403010 32888494) Mean corpuscular volume ( 27863252 28017375 29403010 32888494) Mean platelet volume ( 32888494) Mean reticulocyte volume ( 32888494) Mean spheric corpuscular volume ( 32888494) Melanoma ( 21983787 28212542) Monocyte percentage of white cells ( 32888494) Mosaic loss of chromosome Y (Y chromosome dosage) ( 31624269) Multiple sclerosis ( 31604244) Myeloid white cell count ( 27863252) Myeloproliferative neoplasms ( 33057200) Nasopharyngeal carcinoma ( 26545403 27436580) Neutrophil count ( 27863252 29403010 32888494) Neutrophil percentage of white cells ( 27863252 32888494) Nevus count or cutaneous melanoma ( 30429480) Non-albumin protein levels ( 29403010) Non-glioblastoma glioma ( 28346443 29743610) Non-small cell lung cancer ( 31326317) Pancreatic cancer ( 25086665 27579533 29422604) Platelet count ( 27863252 29403010 32888494) Plateletcrit ( 27863252 32888494) Prostate cancer ( 21743467 25939597 31562322) Prostate-specific antigen levels ( 28139693 30410027) Red blood cell count ( 20139978 27863252 29403010 32888494) Serum prostate-specific antigen levels ( 21160077) Spleen volume ( 34128465) Sum basophil neutrophil counts ( 27863252) Sum neutrophil eosinophil counts ( 27863252) Systemic lupus erythematosus ( 33272962) Systolic blood pressure ( 30224653) Telomere length ( 24465473 29151059) Testicular germ cell cancer ( 20543847) Testicular germ cell tumor ( 23666240 28604728 28604732) Thyroid cancer ( 28195142) Uterine fibroids ( 30194396 31649266) Uveal melanoma ( 28781888) White blood cell count ( 27863252 29403010 32888494)	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) ( 31835028) Schizophrenia ( 25056061 28991256 29483656) Waist circumference adjusted for body mass index ( 34021172) Waist-hip index ( 34021172) Waist-to-hip ratio adjusted for BMI ( 34021172)
Interacting Genes		81 interacting genes: ABL1 ACAA2 AKT1 ANXA2 ATP5F1B BECN1 BRAF CBLC CCND2 CCNE1 CCT5 CDK4 CDK6 CDKN2A CDKN2B CIB1 DACH1 DDX51 DYNLL1 DYRK2 EIF2S1 ENO1 FAAP24 FGFR4 FOXO3 FZR1 GLA GLIS2 GRM1 HSP90AA1 HSPA4 IREB2 MAP2K3 MAP2K5 MAP3K5 MCRS1 MET MTOR MYC NCL NF2 NSD3 PABPC1 PBK PDGFRA PFDN1 PHF20L1 PINX1 PPIA PRKCA PTGES3 PTPA RAF1 RASSF1 RELA RPS6KB1 RUVBL1 RUVBL2 SERBP1 SLC7A11 SMG5 SMG6 SOX3 SOX4 SRC STEAP4 STK11 TEAD2 TEP1 TERF1 TGFBR2 TIMM21 TPP1 TUBA1B U2SURP USP7 XPO1 XRCC5 XRCC6 YWHAQ YWHAZ	72 interacting genes: AKAP8L APP ATP5F1A ATP5F1B BEGAIN CDC14A CDK2AP1 CEP57 CFAP206 CFAP68 CIMIP2B CRTC2 CTIF CYSRT1 DDIT3 DLGAP4 EBF1 EBF3 EIF4G1 EWSR1 FCHSD2 FNTB GOLGA6L9 IKZF3 INCA1 KRT34 KRT40 KRTAP19-5 KRTAP19-6 KRTAP19-7 KRTAP6-2 KRTAP6-3 LGALS9B LNX1 LRRFIP2 LURAP1L LZTS2 MAGEA6 MEDAG MIF4GD NME4 PAK5 PKP4 POLR2J3 POLR3F POLR3H PPP1R16B PRDM14 PRDM6 RAD54B RBM48 RCN1 REL RPH3AL RPIA SAXO4 SORBS2 SPATC1L TCHP TFIP11 TP53BP2 TRIM23 TRIM27 UBAP2 VWC2 WASHC1 ZFP90 ZNF19 ZNF23 ZNF35 ZNF426 ZNF655
Entrez ID		7015	91647
HPRD ID		01754	10599
Ensembl ID		ENSG00000164362	ENSG00000171953
Uniprot IDs		O14746	Q8N5M1
PDB IDs		2BCK 4B18 4MNQ 5MEN 5MEO 5MEP 5MEQ 5MER 5UGW 7BG9 7QXA 7QXB 7QXS 7TRD 7TRE 7TRF 7V99
Enriched GO Terms of Interacting Partners?		Regulation Of Primary Metabolic Process Cellular Response To Stress Regulation Of Telomere Maintenance Regulation Of Protein Metabolic Process Negative Regulation Of Metabolic Process Regulation Of Metabolic Process Regulation Of Macromolecule Metabolic Process Regulation Of Programmed Cell Death Regulation Of Apoptotic Process Positive Regulation Of Metabolic Process Regulation Of Nucleobase-containing Compound Metabolic Process Nucleus Positive Regulation Of Macromolecule Metabolic Process Regulation Of Cell Population Proliferation Regulation Of Macromolecule Biosynthetic Process Negative Regulation Of Macromolecule Metabolic Process Protein Kinase Activity ATP Binding Regulation Of Chromosome Organization Telomere Maintenance Kinase Activity Regulation Of DNA Metabolic Process Positive Regulation Of Macromolecule Biosynthetic Process Positive Regulation Of Protein Metabolic Process Regulation Of Protein Localization Regulation Of Protein Localization To Nucleus Regulation Of Organelle Organization Organelle Organization Positive Regulation Of Biosynthetic Process Negative Regulation Of Signal Transduction Nucleotide Binding Telomere Organization Regulation Of Cellular Component Organization Positive Regulation Of Nucleobase-containing Compound Metabolic Process Negative Regulation Of Programmed Cell Death Protein Serine/threonine Kinase Activity Negative Regulation Of Signaling Negative Regulation Of Cell Communication Protein-containing Complex Negative Regulation Of Intracellular Signal Transduction Regulation Of Telomere Maintenance Via Telomere Lengthening Intracellular Signaling Cassette Cytoplasm Nucleoplasm Negative Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of Intracellular Signal Transduction Regulation Of DNA Biosynthetic Process Regulation Of RNA Metabolic Process Apoptotic Process Regulation Of Signal Transduction	Protein Binding Intermediate Filament
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