AutismKB 2.0

Annotation Detail for SMURF1


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Basic Information Top
Gene Symbol:SMURF1 ( KIAA1625 )
Gene Full Name: SMAD specific E3 ubiquitin protein ligase 1
Band: 7q22.1
Quick LinksEntrez ID:57154; OMIM: 605568; Uniprot ID:SMUF1_HUMAN; ENSEMBL ID: ENSG00000198742; HGNC ID: 16807
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04144Endocytosis
hsa04120Ubiquitin mediated proteolysis
hsa04350TGF-beta signaling pathway
Pathway IDPathway Name
Signaling by TGF beta
Signaling by BMP
Pathway IDPathway Name
200123BMP receptor signaling
200070Signaling events mediated by HDAC Class I
200195TGF-beta receptor signaling
Pathway IDPathway Name
P00060Ubiquitin proteasome pathway
P00052TGF-beta signaling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1818Systemic scleroderma
2106Pancreas cancer
2157Scleroderma
Desease Name
ulcerative colitis
IMMUNE
Desease Name
Ulcerative colitis
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of SMURF1 mRNAdecreases expression 19150397
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of SMURF1 mRNAaffects expression 17484886
D016572 Cyclosporine Cyclosporine results in increased expression of SMURF1 mRNAincreases expression 20106945
D005472 Fluorouracil Fluorouracil results in increased expression of SMURF1 mRNAincreases expression 16557594
C051890 irinotecan irinotecan analog affects the expression of SMURF1 mRNAaffects expression 18927307
D012643 Selenium Selenium results in increased expression of SMURF1 mRNAincreases expression 19244175
C066075 vanadium pentoxide vanadium pentoxide results in decreased expression of SMURF1 mRNAdecreases expression 17459161
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Fluorouracil 2.4817638652
MESH:D000740 Anemia Fluorouracil 3.9816511603 17963324 15504547
MESH:D001943 Breast Neoplasms Fluorouracil 2.4416595493 15136595 16557594 16110121 19217205 18357371 18608205
MESH:D001991 Bronchitis vanadium pentoxide 6.6817459161
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.1416097048 3786805 18705752 15673190 15721981 16011737 15700767 10355542 16124888 16192424 16227642 16050911
MESH:D002276 Carcinoid Tumor Fluorouracil 5.1116051944
MESH:D002277 Carcinoma Fluorouracil 3.7917121937
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 3.2118788625
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 3.2117971768 16332177 17045692 18930000 17088986 16799960
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.1318695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5518986760 17066447 16280240 16757204
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.1720889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.1712371664
MESH:D002779 Cholestasis Cyclosporine 3.1219486331
MESH:D003092 Colitis Selenium 4.1417936198
MESH:D003110 Colonic Neoplasms Fluorouracil 4.1016510598 17287894 15001691 17169374 17725105 17018589 18772588 17172411 17016597 16340194
MESH:D003110 Colonic Neoplasms irinotecan 4.1017725105 17287894
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.7817255274 17695437 17016601 20501625 18949393 18802399 15289873 18383874 17594712 16391804 18288408 16303861 14970324 18509181 17094418 16331619 15148649 18448328 17401013 17454858 16524972 16282729
MESH:D015179 Colorectal Neoplasms irinotecan 2.7817159606 18259882 15273666 16391804 18509181 17454858 16303861
MESH:D007644 Darier Disease Fluorouracil 5.1916733453
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 4.1817522070 21278145 7179309 16177239 15027814 10915739 4309450 2869522 19336974 6884620 9327722 15998439 16227642 11566570 7440962 19085960 3786805 6623471 10092053 3732212 7120509 15968718
MESH:D056486 Drug-Induced Liver Injury Selenium 4.1815131321
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.7120426865
MESH:D004938 Esophageal Neoplasms Fluorouracil 4.7116785472 15173087 17638652 16337965 16481741
MESH:D005234 Fatty Liver Carbon Tetrachloride 8.6615959796 16239168 12795759 19224547 16045604 17595544 12631006 61145
MESH:D005234 Fatty Liver Cyclosporine 8.6619224547
MESH:D005355 Fibrosis Carbon Tetrachloride 9.8918705752
MESH:D005355 Fibrosis Cyclosporine 9.8912168785 12639820
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.628708960
MESH:D005910 Glioma Fluorouracil 2.9616145905
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.5618337622 15162350 15102660
MESH:D006333 Heart Failure Selenium 3.2317162251
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8215720958
MESH:D006505 Hepatitis Carbon Tetrachloride 3.9219110552 19900420
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.9316899240
MESH:D006973 Hypertension Cyclosporine 2.1810903974
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.4515338365
MESH:D007251 Influenza, Human Selenium 4.6416624496
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8815604871
MESH:D007674 Kidney Diseases Cyclosporine 2.488314463 10903974 18776723
MESH:D007676 Kidney Failure, Chronic Selenium 4.1716518626
MESH:D007680 Kidney Neoplasms Cyclosporine 8.1812371664
MESH:D007680 Kidney Neoplasms Fluorouracil 8.1816985049
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.9417334410 16943688 16239168 11408273 11903743 16221502 21278145 17157831 17174718
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 1.7518263696 15362042 17565644 18210741 17976157 17698563 15057751 18156304 15052691 15673190 18205269 18277467 17721639 12445418 15893842 14748882 14724832 12667390 18395095 12632512 16097048 15730626 18317297 12389079 15650968 12546737 14716833 18472094 12609069 17525996 16116963 18429990 10355542 17766677 16033810 18418968 12666154 18376398 18481824 17714472 17823541 12741479 18279442 12632514 18705752 15123356 11481614 17708605 18420326 16638106 17944888 18472332 18166357 18006644 20821823 17869086 15959796 16136751 14716496 18054572 16011737 18251166 13678700 15876570 16015684 15370692 17900296 17481882 16027843 15931870 17640975 14512876 14620537 12586293 16192424 17805973 18412020 15338365 12898905 17631135 15925388 17761835 17557913 12958196 18395914 12649538 15996030 15818738 18187930 12445421 17922224 18339082 16248980
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1315830285 17285989 15720792 16964402 16246199
MESH:D017093 Liver Failure Carbon Tetrachloride 4.5215123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.9516899240 14706259
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 4.9719294768
MESH:D008113 Liver Neoplasms Fluorouracil 4.9715113037 17045692 18383874 16603448
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 2.7712014681 15583823
MESH:D008175 Lung Neoplasms Fluorouracil 3.1415246190
MESH:D008175 Lung Neoplasms vanadium pentoxide 3.1412376484
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.1915086387
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.9215318939
MESH:D008654 Mesothelioma Selenium 2.8815107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.2316801185
MESH:D009062 Mouth Neoplasms Fluorouracil 3.8418986760 16757204
MESH:D052016 Mucositis irinotecan 5.4017159606
MESH:D009362 Neoplasm Metastasis irinotecan 3.2618259882
MESH:D009369 Neoplasms Fluorouracil 2.7218239605 16928823 18600527
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5319348381 18481113
MESH:D009447 Neuroblastoma irinotecan 3.608761367
MESH:D017599 Neuroectodermal Tumors irinotecan 5.128761367
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.6116436463
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7415113037 16929163 19003803 16500647
MESH:D010954 Plasmacytoma Selenium 5.3315087411
MESH:D011230 Precancerous Conditions Cyclosporine 3.4712371664
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.3719082440 18626508
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D012004 Rectal Neoplasms Fluorouracil 4.2618722050 18286688 15538739 16160472
MESH:D013274 Stomach Neoplasms Fluorouracil 2.7718567086 18396642 15786421 16951190 17172411 19015929 17498489 17522103 19084572 16424979
MESH:D013274 Stomach Neoplasms irinotecan 2.7715723263
MESH:D014062 Tongue Neoplasms Fluorouracil 4.2516280240
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.1416803524
MESH:D014605 Uveitis Cyclosporine 4.431336536
MESH:D014985 Xerophthalmia Cyclosporine 4.8817120751
Pathway ID Pathway Name
KEGG:04144 Endocytosis
REACT:12034 Signaling by BMP
REACT:6844 Signaling by TGF beta
KEGG:04350 TGF-beta signaling pathway
KEGG:04120 Ubiquitin mediated proteolysis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134987175
    • No data
    No data
    Releated drug ID Related drug Name
    PA164768822chlorotrianisene
    PA164754789conjugated estrogens
    PA164745534dienestrol
    PA449307diethylstilbestrol
    PA449503estradiol
    PA449509estrogens
    PA449512estrone
    PA449527ethinyl estradiol
    Drug Bank Top

    Simple Query:


      (e.g. CHD8)

    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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