DOCSLIB.ORG

Supplementary Table 1. a Full List of Cancer Genes

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Supplementary Table 1. a Full List of Cancer Genes Supplementary Table 1. A full list of cancer genes. Tumour Tumour Other Gene Gene full Entrez Chr Somat Germli Cancer Tissue Molecular Mut Translocati Other Chr Types Types Germline Syn Symbol name Gene ID Band ic ne Synd Type Genetics Types on Partner Synd (Somatic) (Germline) Mut Abl-interactor 10p11. ABI1; E3B1; ABI-1; ABI1 10006 10 yes AML L Dom T MLL 1 2 SSH3BP1; 10006 V-abl Abelson ABL1; p150; ABL; c- murine BCR; CML; ALL; ABL; JTK7; bcr/abl; v- ABL1 leukemia viral 25 9 9q34.1 yes L Dom T; Mis ETV6; T-ALL abl; P00519; 25; oncogene NUP214 ENSG00000097007 homolog 1 C-abl ABL2; ARG; RP11- oncogene 2; 1q24- 177A2_3; ABLL; ABL2 non-receptor 27 1 yes AML L Dom T ETV6 q25 ENSG00000143322; tyrosine P42684; 27 kinase Acyl-coa 2181; ASPM; synthetase PRO2194; ACS3; ACSL3 long-chain 2181 2 2q36 yes Prostate E Dom T ETV1 FACL3; O95573; family ENSG00000123983; member 3 ACSL3 CASC5; AF15Q14; AF15q14 Q8NG31; D40; AF15Q14 57082 15 15q14 yes AML L Dom T MLL protein ENSG00000137812; 57082 ALL1-fused MLLT11; Q13015; gene from AF1Q; AF1Q 10962 1 1q21 yes ALL L Dom T MLL chromosome ENSG00000213190; 1q 10962 SH3 protein Q9NZQ3; AF3P21; interacting WISH; ORF1; with Nck; 90 AF3p21 51517 3 3p21 yes ALL L Dom T MLL WASLBP; SPIN90; kda (ALL1 ENSG00000213672; fused gene NCKIPSD; 51517 from 3p21) 27125; Q9UHB7; ALL1 fused MCEF; AF5Q31; AF5q31 gene from 27125 5 5q31 yes ALL L Dom T MLL ENSG00000072364; 5q31 AFF4 KIAA0803; AKAP350; CG-NAP; MU-RMS- A kinase 40_16A; PRKA9; (PRKA) 7q21- Papillary AKAP9 10142 7 yes E Dom T BRAF YOTIAO; HYPERION; anchor protein q22 thyroid AKAP450; Q99996; (yotiao) 9 ENSG00000127914; 10142; AKAP9 P31749; AKT1_NEW; 207; V-akt murine Breast; ENSG00000142208; thymoma viral 14q32. colorectal; AKT1 207 14 yes E Dom Mis AKT; MGC99656; oncogene 32 ovarian; PKB; PKB-ALPHA; homolog 1 NSCLC PRKBA; RAC; RAC- ALPHA V-akt murine AKT2; PRKBB; thymoma viral 19q13. Ovarian; P31751; RAC-BETA; AKT2 208 19 yes E Dom A oncogene 1-q13.2 pancreatic ENSG00000105221; homolog 2 208; PKBBETA Aldehyde ALDH2; ALDHI; dehydrogenase ALDM; MGC1806; 12q24. ALDH2 2 family 217 12 yes Leiomyoma M Dom T HMGA2 P05091; ALDH-E2; 2 (mitochondrial ENSG00000111275; ) 217 NPM1; TPM3; TFG; TPM4; ALCL; ATIC; Anaplastic Familial ENSG00000171094; NSCLC; CLTC; ALK lymphoma 238 2 2p23 yes yes Neuroblastoma neuroblast L; E; M Dom T; Mis; A CD246; TFG/ALK; neuroblasto MSN; kinase (Ki-1) oma Q9UM73; ALK; 238 ma ALO17; CARS; EML4; KIF5B; C2orf22 57674; KIAA1618 17q25. ENSG00000173821; ALO17 57674 17 yes ALCL L Dom T ALK protein 3 C17orf27; KIAA1554; Q63HN8; RNF213 AMER1; RP11- APC 403E24_2; WTX; membrane Wilms F; D; N; AMER1 139285 X Xq11.2 yes O Rec FLJ39827; recruitment tumour Mis ENSG00000184675; protein 1 FAM123B; 139285 Colorectal; Colorectal; Adenomat pancreatic; pancreatic; ous 324; DP2; DP2_5; DP3; Adenomatous desmoid; desmoid; polyposis D; Mis; GS; FPC; FAP; APC polyposis of 324 5 5q21 yes yes E; M; O Rec hepatoblasto hepatoblastom coli; N; F; S ENSG00000134982; the colon gene ma; glioma; a; glioma; Turcot P25054; APC other CNS other CNS syndrome 23365; Q9NZN5; RHO guanine PRO2792; nucleotide ARHGE 11q23. DKFZp686O2372; exchange 23365 11 yes AML L Dom T MLL F12 3 LARG; KIAA0382; factor (GEF) ENSG00000196914; 12 (LARG) ARHGEF12 RAS homolog RHOH; TTF; RhoH; gene family; ARHH; ARHH 399 4 4p13 yes NHL L Dom T BCL6 member H ENSG00000168421; (TTF) 399 8289; BAF250; BAF250a; P270; RP1- AT rich Clear cell 50O24_1; B120; interactive ovarian Mis; N; ARID1A 8289 1 1p35.3 yes E Rec BM029; C1orf4; domain 1A carcinoma; F; S; D SMARCF1; (SWI-like) RCC ENSG00000117713; ARID1A 196528; ENSG00000189079; AT rich Hepatocellul BAF200; ARID2 interactive 196528 12 12q12 yes ar E Rec N; S; F DKFZp686G052; domain 2 carcinoma DKFZp779P0222; FLJ30619; KIAA1557; p200; Q68CP9; ARID2 Aryl ARNT; HIF1BETA; hydrocarbon TANGO; HIF1B; HIF- ARNT receptor 405 1 1q21 yes AML L Dom T ETV6 1beta; P27540; nuclear ENSG00000143437; translocator 405 Alveolar soft part sarcoma Alveolar 79058; Q9BZE9; ASPSCR chromosome 79058 17 17q25 yes soft part M Dom T TFE3 ENSG00000169696; 1 region; sarcoma ASPSCR1 candidate 1 171023; KIAA0978; MGC117280; Additional sex 20q11. MDS; ASXL1 171023 20 yes L Rec F; N; Mis MGC71111; Q8IXJ9; combs like 1 1 CMML ENSG00000171456; ASXL1 Malignant melanoma Activating of soft parts; 466; TREB36; P18846; EWSR1; ATF1 transcription 466 12 12q13 yes angiomatoid E; M Dom T ENSG00000123268; FUS factor 1 fibrous ATF1 histiocytom a 5- Aminoimidaz ole-4- P31939; IMPCHASE; carboxamide PURH; AICARFT; ATIC ribonucleotide 471 2 2q35 yes ALCL L Dom T ALK ENSG00000138363; formyltransfer 471; ATIC ase/IMP cyclohydrolas e 472; TELO1; ATA; ATC; ATDC; Leukaemia; MGC74674; Q13315; Ataxia Ataxia- 11q22. lymphoma; D; Mis; AT1; ATM telangiectasia 472 11 yes yes T-PLL telangiecta L; O Rec 3 medulloblasto N; F; S DKFZp781A0353; mutated sia ma; glioma ATE; ATD; TEL1; ENSG00000149311; ATM ATPase; Adrenal Na+/K+ P05023; ATP1A1; 476; aldosterone ATP1A1 transporting; 476 1 p21 yes E Dom Mis; O ENSG00000163399; producing alpha 1 MGC3285; MGC51750 adenoma polypeptide ATPase; Ca++ Adrenal ATP2B3; PMCA3; transporting; aldosterone ATP2B3 492 X q28 yes E Dom O ENSG00000067842; plasma producing 492 membrane 3 adenoma ATR-X P46100; Alpha Pancreatic (alpha ATRX_ENST00000373 thalassemia/m neuroendocr thalassem 344; 546; ATR2; ental ATRX 546 X Xq21.1 yes ine tumours; E Rec Mis; F; N yes ia/mental MGC2094; MRXHF1; retardation paediatric retardatio RAD54; RAD54L; syndrome X- GBM n) SFM1; SHS; XH2; linked syndrome XNP; ZNF-HX Colorectal; endometrial; prostate and hepatocellul 8312; LA16c-314G4_3; ar 16p13. D; Mis; MGC52315; AXIN; AXIN1 Axin 1 8312 16 yes yes carcinomas; E; O Rec 3 N; F; S ENSG00000103126; hepatoblasto O15169; AXIN1 ma; sporadic medulloblast oma BRCA1 8314; associated Uveal DKFZp686N04275; protein-1 melanoma; Mesothelioma; FLJ37180; HUCEP-13; 3p21.3 N; Mis; BAP1 (ubiquitin 8314 3 yes breast; uveal E Rec hucep-6; KIAA0272; 1-p21.2 F; S; O carboxy- NSCLC; melanoma ENSG00000163930; terminal RCC BAP1; FLJ35406; hydrolase) Q92560 BCL10; CIPER; CLAP; B-cell mE10; CARMEN; c- BCL10 CLL/lymphom 8915 1 1p22 yes MALT L Dom T IGH@ E10; a 10 ENSG00000142867; 8915 KIAA1809; BCL11A-L; FLJ10173; EVI9; B-cell Q9H165; BCL11A-XL; BCL11A CLL/lymphom 53335 2 2p13 yes B-CLL L Dom T IGH@ BCL11A-S; CTIP1; a 11A FLJ34997; ENSG00000119866; 53335; BCL11A BCL11B; RIT1; CTIP- B-cell 14q32. 2; Q9C0K0; hRIT1- BCL11B CLL/lymphom 64919 14 yes T-ALL L Dom T TLX3 1 alpha; CTIP2; 64919; a 11B (CTIP2) ENSG00000127152 B-cell BCL2; Bcl-2; 18q21. BCL2 CLL/lymphom 596 18 yes NHL; CLL L Dom T IGH@ ENSG00000171791; 3 a 2 596 BCL3; P20749; BCL4; B-cell D19S37; BCL3 CLL/lymphom 602 19 19q13 yes CLL L Dom T IGH@ ENSG00000069399; a 3 602 B-cell BCL5 CLL/lymphom 603 17 17q22 yes CLL L Dom T MYC a 5 IG loci; ZNFN1A1; LCP1; PIM1; TFRC; CIITA; BCL6A; BCL5; ZNF51; B-cell NACA; LAZ3; P41182; BCL6 CLL/lymphom 604 3 3q27 yes NHL; CLL L Dom T; Mis HSPCB; ZBTB27; a 6 HSPCA; ENSG00000113916; HIST1H4I; 604; BCL6 IL21R; POU2AF1; ARHH; EIF4A2; SFRS3 B-cell BCL7A; BCL7; 12q24. BCL7A CLL/lymphom 605 12 yes BNHL L Dom T MYC ENSG00000110987; 1 a 7A 605 607; LGS; B-cell IGH@; MGC131591; BCL9 CLL/lymphom 607 1 1q21 yes B-ALL L Dom T IGL@ ENSG00000116128; a 9 BCL9 ANOP2; MGC71031; FLJ20285; Retinoblasto oculo- MGC131961; ma; AML; facio- BCL6 F; N; S; KIAA1575; MCOPS2; BCOR 54880 X Xp11.4 yes APL Rec RARA yes cardio- corepressor T MAA2; (translocatio dental ENSG00000183337; n) genetic BCOR; 54880; FLJ38041 P11274; FLJ16453; PHL; ALL; D22S662; ABL1; Breakpoint 22q11. CML; ALL; CML; D22S11; BCR1; BCR 613 22 yes L Dom T FGFR1; cluster region 21 AML BCR; JAK2 ENSG00000186716; 613 201163; BHD; FLCL; Folliculin; Renal; Birt-Hogg- MGC17998; Birt-Hogg- 17p11. fibrofolliculom BHD 201163 17 yes Dube E; M Rec? Mis. N; F MGC23445; Dube 2 as; syndrome ENSG00000154803; syndrome trichodiscomas FLCN BIRC3; AIP1; HAIP1; hiap-1; RNF49; Baculoviral CLL; D; F; N; MALT2; cIAP2; API2; BIRC3 IAP repeat- 330 11 11q22 yes MALT; L Dom MALT1 T; Mis Q13489; HIAP1; containing 3 MCL; MM ENSG00000023445; 330; CIAP2; MIHC RECQL3; Leukaemia; MGC131620; BS; lymphoma; MGC126616; Bloom 15q26. Bloom BLM 641 15 yes skin squamous L; E Rec Mis; N; F RECQL2; RECQ2; syndrome 1 syndrome cell; other MGC131618; tumour types ENSG00000197299; BLM; 641 Bone 657; ACVRLK3; morphogeneti 10q22. gastrointestinal Juvenile CD292; ALK3; P36894; BMPR1A c protein 657 10 yes E Rec Mis; N; F 3 polyps polyposis ENSG00000107779; receptor; type BMPR1A IA Melanoma; colorectal; papillary thyroid; P15056; MGC126806; V-raf murine Cardio- borderline BRAF1; B-raf 1; sarcoma viral AKAP9; facio- BRAF 673 7 7q34 yes ovarian; E Dom Mis; T; O yes RAFB1; MGC138284; oncogene KIAA1549 cutaneous NSCLC; ENSG00000157764; homolog B1 syndrome cholangioca 673; BRAF; B-raf1 rcinoma; pilocytic astrocytoma IRIS; BRCAI; PSCP; Familial Hereditary D; Mis; RNF53; BRCC1; BRCA1 breast/ovarian 672 17 17q21 yes yes Ovarian Breast; ovarian breast/ovar E Rec N; F; S ENSG00000012048; cancer gene 1 ian cancer 672; BRCA1 Breast; BRCA2; FAD; RP11- ovarian; 298P3_4; FANCB; Familial Breast; Hereditary pancreatic; D; Mis; BRCC2; FANCD1; BRCA2 breast/ovarian 675 13 13q12 yes yes ovarian; breast/ovar L; E Rec leukaemia N; F; S FANCD; FAD1; FACD; cancer gene 2 pancreatic ian cancer (FANCB; ENSG00000139618; FANCD1) 675 Lethal 8019; KIAA0043; midline Bromodomain RING3L; ORFX; BRD3 8019 9 9q34 yes carcinoma E Dom T C15orf55 containing 3 Q15059; BRD3; of young ENSG00000169925 people Lethal 23476; MCAP; midline Bromodomain 19p13. O60885; CAP; HUNKI; BRD4 23476 19 yes carcinoma E Dom T C15orf55 containing 4 1 ENSG00000141867; of young BRD4 people Fanconi 83990; MGC126521; BRCA1 anaemia J; OF; MGC126523; interacting AML; breast Q9BX63; FLJ90232; BRIP1 protein C- 83990 17 17q22 yes leukaemia; L; E Rec F; N; Mis cancer FANCJ; BACH1; terminal breast susceptibli ENSG00000136492; helicase 1 ty BRIP1 B-cell BTG1; P62324; translocation BTG1 694 12 12q22 yes BCLL L Dom T MYC ENSG00000133639; gene 1; anti- 694 proliferative BUB1 BUB1B; Bub1A; budding Mosaic hBUBR1; O60566; uninhibited by Rhabdomyosar Mis; N; BUB1B 701 15 15q15 yes variegated M Rec BUB1beta; SSK1; benzimidazole coma F; S aneuploidy ENSG00000156970; s 1 homolog 701; BUBR1; MAD3L beta (yeast) Chromosome 12 open 12q14.
Load more

Recommended publications
  • Supplementary Materials
    DEPs in osteosarcoma cells comparing to osteoblastic cells Biological Process Protein Percentage of Hits metabolic process (GO:0008152) 29.3 29.3% cellular process (GO:0009987) 20.2 20.2% localization (GO:0051179) 9.4 9.4% biological regulation (GO:0065007) 8 8.0% developmental process (GO:0032502) 7.8 7.8% response to stimulus (GO:0050896) 5.6 5.6% cellular component organization (GO:0071840) 5.6 5.6% multicellular organismal process (GO:0032501) 4.4 4.4% immune system process (GO:0002376) 4.2 4.2% biological adhesion (GO:0022610) 2.7 2.7% apoptotic process (GO:0006915) 1.6 1.6% reproduction (GO:0000003) 0.8 0.8% locomotion (GO:0040011) 0.4 0.4% cell killing (GO:0001906) 0.1 0.1% 100.1% Genes 2179Hits 3870 biological adhesion apoptotic process … reproduction (GO:0000003) , 0.8% (GO:0022610) , 2.7% locomotion (GO:0040011) ,… immune system process cell killing (GO:0001906) , 0.1% (GO:0002376) , 4.2% multicellular organismal process (GO:0032501) , metabolic process 4.4% (GO:0008152) , 29.3% cellular component organization (GO:0071840) , 5.6% response to stimulus (GO:0050896), 5.6% developmental process (GO:0032502) , 7.8% biological regulation (GO:0065007) , 8.0% cellular process (GO:0009987) , 20.2% localization (GO:0051179) , 9.
    [Show full text]
  • ACOX3 Antibody
    Product Datasheet ACOX3 antibody Catalog No: #22136 Orders: [email protected] Description Support: [email protected] Product Name ACOX3 antibody Host Species Rabbit Clonality Polyclonal Purification Purified by antigen-affinity chromatography. Applications WB IHC Species Reactivity Hu Immunogen Type Recombinant protein Immunogen Description Recombinant protein fragment contain a sequence corresponding to a region within amino acids 408 and 613 of ACOX3 Target Name ACOX3 Accession No. Swiss-Prot:O15254Gene ID:8310 Concentration 1mg/ml Formulation Supplied in 0.1M Tris-buffered saline with 20% Glycerol (pH7.0). 0.01% Thimerosal was added as a preservative. Storage Store at -20°C for long term preservation (recommended). Store at 4°C for short term use. Application Details Predicted MW: 70kd Western blotting: 1:500-1:3000 Immunohistochemistry: 1:100-1:500 Images Sample (30 ug of whole cell lysate) A: A549 7.5% SDS PAGE Primary antibody diluted at 1: 1000 Address: 8400 Baltimore Ave., Suite 302, College Park, MD 20740, USA http://www.sabbiotech.com 1 Immunohistochemical analysis of paraffin-embedded H441 xenograft, using ACOX3 antibody at 1: 500 dilution. Background Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined.
    [Show full text]
  • Implications in Parkinson's Disease
    Journal of Clinical Medicine Review Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson’s Disease Silvia Paciotti 1,2 , Elisabetta Albi 3 , Lucilla Parnetti 1 and Tommaso Beccari 3,* 1 Laboratory of Clinical Neurochemistry, Department of Medicine, University of Perugia, Sant’Andrea delle Fratte, 06132 Perugia, Italy; [email protected] (S.P.); [email protected] (L.P.) 2 Section of Physiology and Biochemistry, Department of Experimental Medicine, University of Perugia, Sant’Andrea delle Fratte, 06132 Perugia, Italy 3 Department of Pharmaceutical Sciences, University of Perugia, Via Fabretti, 06123 Perugia, Italy; [email protected] * Correspondence: [email protected] Received: 29 January 2020; Accepted: 20 February 2020; Published: 21 February 2020 Abstract: Ceramides are a family of bioactive lipids belonging to the class of sphingolipids. Sphingolipidoses are a group of inherited genetic diseases characterized by the unmetabolized sphingolipids and the consequent reduction of ceramide pool in lysosomes. Sphingolipidoses include several disorders as Sandhoff disease, Fabry disease, Gaucher disease, metachromatic leukodystrophy, Krabbe disease, Niemann Pick disease, Farber disease, and GM2 gangliosidosis. In sphingolipidosis, lysosomal lipid storage occurs in both the central nervous system and visceral tissues, and central nervous system pathology is a common hallmark for all of them. Parkinson’s disease, the most common neurodegenerative movement disorder, is characterized by the accumulation and aggregation of misfolded α-synuclein that seem associated to some lysosomal disorders, in particular Gaucher disease. This review provides evidence into the role of ceramide metabolism in the pathophysiology of lysosomes, highlighting the more recent findings on its involvement in Parkinson’s disease. Keywords: ceramide metabolism; Parkinson’s disease; α-synuclein; GBA; GLA; HEX A-B; GALC; ASAH1; SMPD1; ARSA * Correspondence [email protected] 1.
    [Show full text]
  • UCSD MOLECULE PAGES Doi:10.6072/H0.MP.A002549.01 Volume 1, Issue 2, 2012 Copyright UC Press, All Rights Reserved
    UCSD MOLECULE PAGES doi:10.6072/H0.MP.A002549.01 Volume 1, Issue 2, 2012 Copyright UC Press, All rights reserved. Review Article Open Access WAVE2 Tadaomi Takenawa1, Shiro Suetsugu2, Daisuke Yamazaki3, Shusaku Kurisu1 WASP family verprolin-homologous protein 2 (WAVE2, also called WASF2) was originally identified by its sequence similarity at the carboxy-terminal VCA (verprolin, cofilin/central, acidic) domain with Wiskott-Aldrich syndrome protein (WASP) and N-WASP (neural WASP). In mammals, WAVE2 is ubiquitously expressed, and its two paralogs, WAVE1 (also called suppressor of cAMP receptor 1, SCAR1) and WAVE3, are predominantly expressed in the brain. The VCA domain of WASP and WAVE family proteins can activate the actin-related protein 2/3 (Arp2/3) complex, a major actin nucleator in cells. Proteins that can activate the Arp2/3 complex are now collectively known as nucleation-promoting factors (NPFs), and the WASP and WAVE families are a founding class of NPFs. The WAVE family has an amino-terminal WAVE homology domain (WHD domain, also called the SCAR homology domain, SHD) followed by the proline-rich region that interacts with various Src-homology 3 (SH3) domain proteins. The VCA domain located at the C-terminus. WAVE2, like WAVE1 and WAVE3, constitutively forms a huge heteropentameric protein complex (the WANP complex), binding through its WHD domain with Abi-1 (or its paralogs, Abi-2 and Abi-3), HSPC300 (also called Brick1), Nap1 (also called Hem-2 and NCKAP1), Sra1 (also called p140Sra1 and CYFIP1; its paralog is PIR121 or CYFIP2). The WANP complex is recruited to the plasma membrane by cooperative action of activated Rac GTPases and acidic phosphoinositides.
    [Show full text]
  • ACOX3 Human Shrna Plasmid Kit (Locus ID 8310) Product Data
    OriGene Technologies, Inc. 9620 Medical Center Drive, Ste 200 Rockville, MD 20850, US Phone: +1-888-267-4436 [email protected] EU: [email protected] CN: [email protected] Product datasheet for TL314988 ACOX3 Human shRNA Plasmid Kit (Locus ID 8310) Product data: Product Type: shRNA Plasmids Product Name: ACOX3 Human shRNA Plasmid Kit (Locus ID 8310) Locus ID: 8310 Vector: pGFP-C-shLenti (TR30023) Format: Lentiviral plasmids Components: ACOX3 - Human, 4 unique 29mer shRNA constructs in lentiviral GFP vector(Gene ID = 8310). 5µg purified plasmid DNA per construct Non-effective 29-mer scrambled shRNA cassette in pGFP-C-shLenti Vector, TR30021, included for free. RefSeq: NM_001101667, NM_003501, NM_003501.1, NM_003501.2, NM_001101667.1, BC017053, NM_003501.3, NM_001101667.2 Summary: Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq, Jul 2008] shRNA Design: These shRNA constructs were designed against multiple splice variants at this gene locus. To be certain that your variant of interest is targeted, please contact [email protected].
    [Show full text]
  • Datasheet: VMA00439 Product Details
    Datasheet: VMA00439 Description: MOUSE ANTI ACBD3 Specificity: ACBD3 Format: Purified Product Type: PrecisionAb™ Monoclonal Clone: 5F9 Isotype: IgG1 Quantity: 100 µl Product Details Applications This product has been reported to work in the following applications. This information is derived from testing within our laboratories, peer-reviewed publications or personal communications from the originators. Please refer to references indicated for further information. For general protocol recommendations, please visit www.bio-rad-antibodies.com/protocols. Yes No Not Determined Suggested Dilution Western Blotting 1/1000 PrecisionAb antibodies have been extensively validated for the western blot application. The antibody has been validated at the suggested dilution. Where this product has not been tested for use in a particular technique this does not necessarily exclude its use in such procedures. Further optimization may be required dependant on sample type. Target Species Human Species Cross Reacts with: Rat Reactivity N.B. Antibody reactivity and working conditions may vary between species. Product Form Purified IgG - liquid Preparation Mouse monoclonal antibody purified by affinity chromatography from ascites Buffer Solution Phosphate buffered saline Preservative 0.09% Sodium Azide (NaN3) Stabilisers 1% Bovine Serum Albumin 50% Glycerol Immunogen Full length recombinant human ACBD3 (NP_073572) produced in HEK293T cells External Database Links UniProt: Q9H3P7 Related reagents Entrez Gene: 64746 ACBD3 Related reagents Page 1 of 2 Synonyms GCP60, GOCAP1, GOLPH1 Specificity Mouse anti Human ACBD3 antibody recognizes ACBD3, also known as PBR- and PKA-associated protein 7, PKA (RIalpha)-associated protein, acyl-Coenzyme A binding domain containing 3, golgi complex associated protein 1 60kDa, golgi phosphoprotein 1 and peripheral benzodiazepine receptor-associated protein PAP7.
    [Show full text]
  • Defining Functional Interactions During Biogenesis of Epithelial Junctions
    ARTICLE Received 11 Dec 2015 | Accepted 13 Oct 2016 | Published 6 Dec 2016 | Updated 5 Jan 2017 DOI: 10.1038/ncomms13542 OPEN Defining functional interactions during biogenesis of epithelial junctions J.C. Erasmus1,*, S. Bruche1,*,w, L. Pizarro1,2,*, N. Maimari1,3,*, T. Poggioli1,w, C. Tomlinson4,J.Lees5, I. Zalivina1,w, A. Wheeler1,w, A. Alberts6, A. Russo2 & V.M.M. Braga1 In spite of extensive recent progress, a comprehensive understanding of how actin cytoskeleton remodelling supports stable junctions remains to be established. Here we design a platform that integrates actin functions with optimized phenotypic clustering and identify new cytoskeletal proteins, their functional hierarchy and pathways that modulate E-cadherin adhesion. Depletion of EEF1A, an actin bundling protein, increases E-cadherin levels at junctions without a corresponding reinforcement of cell–cell contacts. This unexpected result reflects a more dynamic and mobile junctional actin in EEF1A-depleted cells. A partner for EEF1A in cadherin contact maintenance is the formin DIAPH2, which interacts with EEF1A. In contrast, depletion of either the endocytic regulator TRIP10 or the Rho GTPase activator VAV2 reduces E-cadherin levels at junctions. TRIP10 binds to and requires VAV2 function for its junctional localization. Overall, we present new conceptual insights on junction stabilization, which integrate known and novel pathways with impact for epithelial morphogenesis, homeostasis and diseases. 1 National Heart and Lung Institute, Faculty of Medicine, Imperial College London, London SW7 2AZ, UK. 2 Computing Department, Imperial College London, London SW7 2AZ, UK. 3 Bioengineering Department, Faculty of Engineering, Imperial College London, London SW7 2AZ, UK. 4 Department of Surgery & Cancer, Faculty of Medicine, Imperial College London, London SW7 2AZ, UK.
    [Show full text]
  • A Computational Approach for Defining a Signature of Β-Cell Golgi Stress in Diabetes Mellitus
    Page 1 of 781 Diabetes A Computational Approach for Defining a Signature of β-Cell Golgi Stress in Diabetes Mellitus Robert N. Bone1,6,7, Olufunmilola Oyebamiji2, Sayali Talware2, Sharmila Selvaraj2, Preethi Krishnan3,6, Farooq Syed1,6,7, Huanmei Wu2, Carmella Evans-Molina 1,3,4,5,6,7,8* Departments of 1Pediatrics, 3Medicine, 4Anatomy, Cell Biology & Physiology, 5Biochemistry & Molecular Biology, the 6Center for Diabetes & Metabolic Diseases, and the 7Herman B. Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202; 2Department of BioHealth Informatics, Indiana University-Purdue University Indianapolis, Indianapolis, IN, 46202; 8Roudebush VA Medical Center, Indianapolis, IN 46202. *Corresponding Author(s): Carmella Evans-Molina, MD, PhD ([email protected]) Indiana University School of Medicine, 635 Barnhill Drive, MS 2031A, Indianapolis, IN 46202, Telephone: (317) 274-4145, Fax (317) 274-4107 Running Title: Golgi Stress Response in Diabetes Word Count: 4358 Number of Figures: 6 Keywords: Golgi apparatus stress, Islets, β cell, Type 1 diabetes, Type 2 diabetes 1 Diabetes Publish Ahead of Print, published online August 20, 2020 Diabetes Page 2 of 781 ABSTRACT The Golgi apparatus (GA) is an important site of insulin processing and granule maturation, but whether GA organelle dysfunction and GA stress are present in the diabetic β-cell has not been tested. We utilized an informatics-based approach to develop a transcriptional signature of β-cell GA stress using existing RNA sequencing and microarray datasets generated using human islets from donors with diabetes and islets where type 1(T1D) and type 2 diabetes (T2D) had been modeled ex vivo. To narrow our results to GA-specific genes, we applied a filter set of 1,030 genes accepted as GA associated.
    [Show full text]
  • Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but Unaffected Mitochondrial Functions in HEK293 and Hela Cells
    International Journal of Molecular Sciences Article Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but Unaffected Mitochondrial Functions in HEK293 and HeLa Cells Tereza Da ˇnhelovská 1 , Lucie Zdražilová 1 , Hana Štufková 1, Marie Vanišová 1, Nikol Volfová 1, Jana Kˇrížová 1 , OndˇrejKuda 2 , Jana Sládková 1 and Markéta Tesaˇrová 1,* 1 Department of Paediatrics and Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and General University Hospital in Prague, 128 01 Prague, Czech Republic; [email protected] (T.D.); [email protected] (L.Z.); [email protected] (H.Š.); [email protected] (M.V.); [email protected] (N.V.); [email protected] (J.K.); [email protected] (J.S.) 2 Institute of Physiology, Academy of Sciences of the Czech Republic, 142 00 Prague, Czech Republic; [email protected] * Correspondence: [email protected] Abstract: The Acyl-CoA-binding domain-containing protein (ACBD3) plays multiple roles across the cell. Although generally associated with the Golgi apparatus, it operates also in mitochondria. In steroidogenic cells, ACBD3 is an important part of a multiprotein complex transporting cholesterol into mitochondria. Balance in mitochondrial cholesterol is essential for proper mitochondrial protein biosynthesis, among others. We generated ACBD3 knock-out (ACBD3-KO) HEK293 and HeLa cells and characterized the impact of protein absence on mitochondria, Golgi, and lipid profile. In ACBD3- Citation: Daˇnhelovská,T.; KO cells, cholesterol level and mitochondrial structure and functions are not altered, demonstrating Zdražilová, L.; Štufková, H.; that an alternative pathway of cholesterol transport into mitochondria exists. However, ACBD3- Vanišová, M.; Volfová, N.; Kˇrížová,J.; Kuda, O.; Sládková, J.; Tesaˇrová,M.
    [Show full text]
  • Profiling Data
    Compound Name DiscoveRx Gene Symbol Entrez Gene Percent Compound Symbol Control Concentration (nM) JNK-IN-8 AAK1 AAK1 69 1000 JNK-IN-8 ABL1(E255K)-phosphorylated ABL1 100 1000 JNK-IN-8 ABL1(F317I)-nonphosphorylated ABL1 87 1000 JNK-IN-8 ABL1(F317I)-phosphorylated ABL1 100 1000 JNK-IN-8 ABL1(F317L)-nonphosphorylated ABL1 65 1000 JNK-IN-8 ABL1(F317L)-phosphorylated ABL1 61 1000 JNK-IN-8 ABL1(H396P)-nonphosphorylated ABL1 42 1000 JNK-IN-8 ABL1(H396P)-phosphorylated ABL1 60 1000 JNK-IN-8 ABL1(M351T)-phosphorylated ABL1 81 1000 JNK-IN-8 ABL1(Q252H)-nonphosphorylated ABL1 100 1000 JNK-IN-8 ABL1(Q252H)-phosphorylated ABL1 56 1000 JNK-IN-8 ABL1(T315I)-nonphosphorylated ABL1 100 1000 JNK-IN-8 ABL1(T315I)-phosphorylated ABL1 92 1000 JNK-IN-8 ABL1(Y253F)-phosphorylated ABL1 71 1000 JNK-IN-8 ABL1-nonphosphorylated ABL1 97 1000 JNK-IN-8 ABL1-phosphorylated ABL1 100 1000 JNK-IN-8 ABL2 ABL2 97 1000 JNK-IN-8 ACVR1 ACVR1 100 1000 JNK-IN-8 ACVR1B ACVR1B 88 1000 JNK-IN-8 ACVR2A ACVR2A 100 1000 JNK-IN-8 ACVR2B ACVR2B 100 1000 JNK-IN-8 ACVRL1 ACVRL1 96 1000 JNK-IN-8 ADCK3 CABC1 100 1000 JNK-IN-8 ADCK4 ADCK4 93 1000 JNK-IN-8 AKT1 AKT1 100 1000 JNK-IN-8 AKT2 AKT2 100 1000 JNK-IN-8 AKT3 AKT3 100 1000 JNK-IN-8 ALK ALK 85 1000 JNK-IN-8 AMPK-alpha1 PRKAA1 100 1000 JNK-IN-8 AMPK-alpha2 PRKAA2 84 1000 JNK-IN-8 ANKK1 ANKK1 75 1000 JNK-IN-8 ARK5 NUAK1 100 1000 JNK-IN-8 ASK1 MAP3K5 100 1000 JNK-IN-8 ASK2 MAP3K6 93 1000 JNK-IN-8 AURKA AURKA 100 1000 JNK-IN-8 AURKA AURKA 84 1000 JNK-IN-8 AURKB AURKB 83 1000 JNK-IN-8 AURKB AURKB 96 1000 JNK-IN-8 AURKC AURKC 95 1000 JNK-IN-8
    [Show full text]
  • 5' Untranslated Region Elements Show High Abundance and Great
    International Journal of Molecular Sciences Article 0 5 Untranslated Region Elements Show High Abundance and Great Variability in Homologous ABCA Subfamily Genes Pavel Dvorak 1,2,* , Viktor Hlavac 2,3 and Pavel Soucek 2,3 1 Department of Biology, Faculty of Medicine in Pilsen, Charles University, 32300 Pilsen, Czech Republic 2 Biomedical Center, Faculty of Medicine in Pilsen, Charles University, 32300 Pilsen, Czech Republic; [email protected] (V.H.); [email protected] (P.S.) 3 Toxicogenomics Unit, National Institute of Public Health, 100 42 Prague, Czech Republic * Correspondence: [email protected]; Tel.: +420-377593263 Received: 7 October 2020; Accepted: 20 November 2020; Published: 23 November 2020 Abstract: The 12 members of the ABCA subfamily in humans are known for their ability to transport cholesterol and its derivatives, vitamins, and xenobiotics across biomembranes. Several ABCA genes are causatively linked to inborn diseases, and the role in cancer progression and metastasis is studied intensively. The regulation of translation initiation is implicated as the major mechanism in the processes of post-transcriptional modifications determining final protein levels. In the current bioinformatics study, we mapped the features of the 50 untranslated regions (50UTR) known to have the potential to regulate translation, such as the length of 50UTRs, upstream ATG codons, upstream open-reading frames, introns, RNA G-quadruplex-forming sequences, stem loops, and Kozak consensus motifs, in the DNA sequences of all members of the subfamily. Subsequently, the conservation of the features, correlations among them, ribosome profiling data as well as protein levels in normal human tissues were examined. The 50UTRs of ABCA genes contain above-average numbers of upstream ATGs, open-reading frames and introns, as well as conserved ones, and these elements probably play important biological roles in this subfamily, unlike RG4s.
    [Show full text]
  • Functional Significance of the Two ACOX1 Isoforms and Their
    Laboratory Investigation (2010) 90, 696–708 & 2010 USCAP, Inc All rights reserved 0023-6837/10 $32.00 Functional significance of the two ACOX1 isoforms and their crosstalks with PPARa and RXRa Aurore Vluggens1,2,3, Pierre Andreoletti1,2, Navin Viswakarma3, Yuzhi Jia3, Kojiro Matsumoto3, Wim Kulik4, Mushfiquddin Khan5, Jiansheng Huang3, Dongsheng Guo3, Sangtao Yu3, Joy Sarkar3, Inderjit Singh5, M Sambasiva Rao3, Ronald J Wanders4, Janardan K Reddy3 and Mustapha Cherkaoui-Malki1,2 Disruption of the peroxisomal acyl-CoA oxidase 1 (Acox1) gene in the mouse results in the development of severe microvesicular hepatic steatosis and sustained activation of peroxisome proliferator-activated receptor-a (PPARa). These mice manifest spontaneous massive peroxisome proliferation in regenerating hepatocytes and eventually develop hepatocellular carcinomas. Human ACOX1, the first and rate-limiting enzyme of the peroxisomal b-oxidation pathway, has two isoforms including ACOX1a and ACOX1b, transcribed from a single gene. As ACOX1a shows reduced activity toward palmitoyl-CoA as compared with ACOX1b, we used adenovirally driven ACOX1a and ACOX1b to investigate their efficacy in the reversal of hepatic phenotype in Acox1(À/À) mice. In this study, we show that human ACOX1b is markedly effective in reversing the ACOX1 null phenotype in the mouse. In addition, expression of human ACOX1b was found to restore the production of nervonic (24:1) acid and had a negative impact on the recruitment of coactivators to the PPARa-response unit, which suggests that nervonic acid might well be an endogenous PPARa antagonist, with nervonoyl-CoA probably being the active form of nervonic acid. In contrast, restoration of docosahexaenoic (22:6) acid level, a retinoid-X-receptor (RXRa) agonist, was dependent on the concomitant hepatic expression of both ACOX1a and ACOX1b isoforms.
    [Show full text]