| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 9656 |
Name | MDC1 |
Synonym | NFBD1;mediator of DNA-damage checkpoint 1;MDC1;mediator of DNA-damage checkpoint 1 |
Definition | homologue to Drosophila photoreceptor protein calphotin|mediator of DNA damage checkpoint 1|mediator of DNA damage checkpoint protein 1|nuclear factor with BRCT domains 1 |
Position | 6p21.3 |
Gene Type | protein-coding |
|
TSG scores |
Description |
| TUSON ranking | 10417 |
TUSON P-value | 1 |
|
Pathways and Diseases |
|
Pathway | Recruitment of repair and signaling proteins to double-strand breaks;PID Reactome;500044 |
Pathway | ATM mediated phosphorylation of repair proteins;PID Reactome;500043 |
Pathway | DNA Repair;Reactome;REACT:216 |
Disease | Carcinoma;FunDO |
Disease | Testicular dysfunction;FunDO |
Disease | Germ cell tumor;FunDO |
|
External Links |
|
Links to Entrez Gene | 9656 |
Links to all GeneRIF Items | 9656 |
Links to iHOP | 9656 |
|
Sequence Information |
The sequences provided here are only the longest representative sequences, not covering all the isoforms. |
Nucleotide Sequence |
>9656 : length: 6270 atggaggacacccaggctattgactgggatgttgaagaagaggaggagacagagcaatcc agtgaatccttgaggtgtaacgtggagccagtagggcggctacatatctttagtggtgcc catggaccagaaaaagatttcccactacacctcgggaagaatgtggtaggccgaatgcct gactgctctgtggccctgccctttccatctatctccaaacaacatgcagagattgaaatc ttagcctgggacaaggcacctatcctccgagactgtgggagccttaatggtactcaaatc ctgagacctcctaaggttttgagccctggggtgagtcaccgtctgagggaccaggaattg attctctttgctgacttgctctgccagtaccatcgcctggatgtctctctgccctttgtc tcccggggccctctgacagtagaagagacacccagagtacagggagaaactcaaccccag aggcttctgttggctgaggactcggaggaggaagtagattttctttctgaaaggcgtatg gtaaaaaaatcaaggaccacatcttcctctgtgatagttccagagagtgatgaagagggg cattccccggtcctgggcggccttgggccgccttttgccttcaatttgaacagtgacaca gatgtggaagaaggtcagcaaccagccacagaggaggcctcctcagctgccagaagaggt gccactgtagaggcaaagcagtctgaagctgaagttgtaactgaaatccagcttgaaaag gatcagcctttagtgaaggagagggacaatgatacaaaagtcaagaggggtgcagggaat ggggtggttccagctggggtgattctggagaggagccaacctcctggagaggacagtgac acagatgtggatgatgacagcaggcctcctggaaggccagctgaggtccatttggaaagg gctcagccttttggcttcatcgacagcgacactgatgcggaagaagagaggatcccagca accccagttgtcattcctatgaagaagaggaagatcttccatggagtaggtacaaggggt cctggagcaccaggcctggcccatctgcaggagagccaggctggtagtgatacagatgtg gaagaaggcaaggccccacaggctgtccctctggagaaaagccaagcttccatggttatc aacagcgatacagatgacgaggaagaagtctcagcagcgctgactttggcacatctgaaa gagagccagcctgctatatggaacagagatgcagaagaggacatgccccaacgtgtggtc cttctgcagcgaagccaaaccaccactgagagagacagtgacacagacgtggaggaggaa gagctcccagtggaaaatagagaagctgtcctcaaggatcacacaaagattagagccctt gttagagcacattcagaaaaggaccaacctccttttggggacagtgatgacagtgtggaa gcagataagagctcacctgggatccacctggagagaagccaagcctccaccacagtggac atcaacacacaagtggagaaggaagtcccgccagggtcagccattatacatataaagaag catcaggtgtctgtggaggggacaaatcaaacagatgtgaaagcagttgggggaccagca aagctgcttgtggtatctctagaggaagcctggcctctgcatggggactgtgaaacagat gcagaggagggcacctccctaacagcctcagtagttgcagatgtaagaaagagccagctt ccagcagaaggggatgctggggcagagtgggctgcagctgttcttaagcaggagagagct catgaggtgggggcccagggtgggccacctgtggcacaagtggagcaggacctccctatc tcaagagagaacctcacagatctggtggtggacacagacactctaggggaatccacccag ccacagagagagggagcccaggtccccacaggaagggagagagaacaacatgtgggtggg accaaggactctgaagacaactatggtgattctgaagatctggacctacaagctacccag tgctttctggagaatcagggcctggaagcagtccagagcatggaggatgaacctacccag gccttcatgttgactccaccccaagagcttggcccttcccattgcagcttccagacaaca ggtaccctagatgaaccatgggaggtcctggctacacagccattctgtctgagagagtct gaggactctgagacccagccttttgacacgcaccttgaggcctatggaccttgcctgtct ccacctagggcaataccaggagaccaacatccagagagcccagttcacacagagccaatg gggattcaaggcagagggaggcagactgtggataaagtcatgggtataccaaaagaaaca gcagagagggtgggccctgagagagggccattggagagagaaactgagaaactgctacca gaaagacagacagatgtgacaggagaggaagaattaaccaaggggaaacaggacagagaa caaaaacagttgttagctagagacacccagagacaagaatctgacaaaaatggggaaagt gcaagtcctgaaagagatagggagagtttgaaggtagaaattgagacatctgaggaaata caagagaaacaagtacagaagcagacccttccaagcaaagcatttgagagagaagtagag agaccagtagcaaacagagagtgcgatccagccgagttagaagagaaggtgcccaaagtg atcctggagagagatacacagagaggggagccagagggagggagccaggaccagaaaggg caggcctccagcccaacaccagagcctggggtgggggcgggggaccttccgggacctacc tcagcccccgtaccttctgggagccagtcaggtggaaggggatccccagtgagccccagg aggcatcagaaaggcctcctgaattgcaagatgccacctgctgagaaggcttccaggatc agagctgctgagaaggtttccaggggcgatcaggaatctccagatgcttgtctgcctcct acagtacctgaagccccagccccaccccaaaagccccttaactctcagagccagaaacat cttgcacctccgccccttctttctccccttttaccttctatcaagccaaccgttcgtaag accaggcaagatgggagtcaggaagctccagaggctcccttgtcctcagagctggagcct ttccacccaaagcctaaaattagaactcggaagtcctccagaatgacaccctttccagct acctctgctgcccctgagccccacccttccacctccacagcccagccagtcactcccaag cccacatctcaggccactaggagcaggacaaataggtcctctgtcaagacccctgaacca gttgtccccacagcccctgagctccagccttccacctccacagaccagcctgtcacctct gagcccacatctcaggttactaggggaagaaaaagtagatcctctgtcaagacccctgaa acagttgtgcccacagcccttgagctccagccttccacctccaccgaccgacctgtcacc tctgaacccacctctcaggctactaggggaagaaaaaatagatcctctgtcaagacccct gaaccagttgtccccacagcccctgagctccagccttccacctccacagaccagcctgtc acttctgagcccacatatcaggctactaggggaagaaaaaatagatcctctgtcaagacc cctgaaccagttgtgcccacagcccctgagctccggccttccacctccacagaccgacct gtcacccccaagcccacatctcggaccactaggagcaggacaaatatgtcctctgtcaag acccctgaaacagttgtccccacagcccctgagctccagatttccacctccacagaccaa cctgtcacccctaagcccacatctcggaccactaggagcaggacaaatatgtcctctgtg aagaaccctgaatcaactgtccctatagcccctgagctcccaccttccacctccacagag cagcctgtcacccctgagcccacatctcgggctactaggggaagaaaaaatagatcctct ggcaagacccctgaaacacttgtccccacagcccctaagctcgagccttccacttccaca gaccaacctgtcactcctgagcccacatctcaggccaccaggggcaggacaaataggtcc tctgtgaagacccctgaaacagttgtccccacagcccctgagctccagccttccacctcc acagaccagcctgttacccctgagcctacgtctcaggctactaggggaagaacagataga tcctctgtcaagactcctgaaacagttgtccccacagcccctgagctacaggcttccgcc tccacagaccagcctgtcacctctgagcccacatctcggaccactaggggaagaaaaaat cggtcctctgtcaagacccctgaaacagttgtgcccgcagcccctgagctccagccttcc acctccacagaccaacctgtcacccctgagcccacatctcgggccactaggggcaggaca aataggtcctctgtcaagacccctgaatcaattgtccctatagcccctgagcttcagcct tccacctccagaaaccagcttgtcacccctgagcccacatctcgggccactaggtgcagg acaaataggtcctctgtcaagacccctgagccagttgtccccacagcccctgagccccat cctaccacctccacagaccagcctgtcacccccaagctcacatctagggccactaggaga aagacaaataggtcctctgtcaagactcccaaaccagttgaaccagcagcctctgatctt gagccttttacccccacagaccagtccgtcacccctgaggccatagctcagggtggtcag agcaaaacactgaggtcttccacagtaagagctatgccggttcctaccacccctgaattc caatctcctgtcaccacagaccagcctatttcccctgagcctattactcaacccagttgc atcaagaggcagagagccgctgggaaccctggctccctcgcagctcccattgaccataag ccttgctctgcacccttggaacctaaatcccaggcctcaaggaaccaaagatggggagca gtgagagcagctgaatcccttacagccattcctgagcctgcctctccccagcttcttgag acaccaattcatgcctcccagatccaaaaggtggaaccagcaggtagatctaggttcacc ccggagctccagcctaaggcctctcaaagccgcaagaggtctttagctaccatggattca ccaccacatcaaaaacagccccaaagaggggaagtctcccagaagacagtgattatcaag gaagaggaagaagatactgcagagaagccagggaaggaagaggatgtcgtgactccaaaa ccaggcaagagaaagagagaccaggcagaggaggagcccaacagaataccaagccgcagc ctccgacggaccaaacttaaccaagaatcaacagcccccaaagtgctcttcacaggagtg gtggatgctcggggagagcgggctgtgctggcactggggggaagtctggctggttcagcg gcagaggcttcccacctggtcactgatcgcatccgccggacagtcaagttcctgtgtgcc ctggggcggggaatccccattctgtccctggactggctgcatcagtcccgcaaggctggt ttcttcttacccccggatgaatatgtggtgaccgaccctgagcaagagaagaactttggc tttagccttcaagacgcactgagcagggctcgggagcgaaggctgctagagggctatgag atctatgtgacccctggagtccagccaccaccacctcagatgggagagattattagctgc tgtggaggcacatacctacccagcatgcctcggtcctataagcctcagagagttgtgatc acatgccctcaggacttccctcattgctccattccactacgggttgggctgcccctcctc tcgcctgagttcctgctgactggagtgctgaagcaggaagccaagccagaggcctttgtc ctctcccctttggagatgtcatccacctga |
Protein Sequence |
>9656 : length: 2089 MEDTQAIDWDVEEEEETEQSSESLRCNVEPVGRLHIFSGAHGPEKDFPLHLGKNVVGRMP DCSVALPFPSISKQHAEIEILAWDKAPILRDCGSLNGTQILRPPKVLSPGVSHRLRDQEL ILFADLLCQYHRLDVSLPFVSRGPLTVEETPRVQGETQPQRLLLAEDSEEEVDFLSERRM VKKSRTTSSSVIVPESDEEGHSPVLGGLGPPFAFNLNSDTDVEEGQQPATEEASSAARRG ATVEAKQSEAEVVTEIQLEKDQPLVKERDNDTKVKRGAGNGVVPAGVILERSQPPGEDSD TDVDDDSRPPGRPAEVHLERAQPFGFIDSDTDAEEERIPATPVVIPMKKRKIFHGVGTRG PGAPGLAHLQESQAGSDTDVEEGKAPQAVPLEKSQASMVINSDTDDEEEVSAALTLAHLK ESQPAIWNRDAEEDMPQRVVLLQRSQTTTERDSDTDVEEEELPVENREAVLKDHTKIRAL VRAHSEKDQPPFGDSDDSVEADKSSPGIHLERSQASTTVDINTQVEKEVPPGSAIIHIKK HQVSVEGTNQTDVKAVGGPAKLLVVSLEEAWPLHGDCETDAEEGTSLTASVVADVRKSQL PAEGDAGAEWAAAVLKQERAHEVGAQGGPPVAQVEQDLPISRENLTDLVVDTDTLGESTQ PQREGAQVPTGREREQHVGGTKDSEDNYGDSEDLDLQATQCFLENQGLEAVQSMEDEPTQ AFMLTPPQELGPSHCSFQTTGTLDEPWEVLATQPFCLRESEDSETQPFDTHLEAYGPCLS PPRAIPGDQHPESPVHTEPMGIQGRGRQTVDKVMGIPKETAERVGPERGPLERETEKLLP ERQTDVTGEEELTKGKQDREQKQLLARDTQRQESDKNGESASPERDRESLKVEIETSEEI QEKQVQKQTLPSKAFEREVERPVANRECDPAELEEKVPKVILERDTQRGEPEGGSQDQKG QASSPTPEPGVGAGDLPGPTSAPVPSGSQSGGRGSPVSPRRHQKGLLNCKMPPAEKASRI RAAEKVSRGDQESPDACLPPTVPEAPAPPQKPLNSQSQKHLAPPPLLSPLLPSIKPTVRK TRQDGSQEAPEAPLSSELEPFHPKPKIRTRKSSRMTPFPATSAAPEPHPSTSTAQPVTPK PTSQATRSRTNRSSVKTPEPVVPTAPELQPSTSTDQPVTSEPTSQVTRGRKSRSSVKTPE TVVPTALELQPSTSTDRPVTSEPTSQATRGRKNRSSVKTPEPVVPTAPELQPSTSTDQPV TSEPTYQATRGRKNRSSVKTPEPVVPTAPELRPSTSTDRPVTPKPTSRTTRSRTNMSSVK TPETVVPTAPELQISTSTDQPVTPKPTSRTTRSRTNMSSVKNPESTVPIAPELPPSTSTE QPVTPEPTSRATRGRKNRSSGKTPETLVPTAPKLEPSTSTDQPVTPEPTSQATRGRTNRS SVKTPETVVPTAPELQPSTSTDQPVTPEPTSQATRGRTDRSSVKTPETVVPTAPELQASA STDQPVTSEPTSRTTRGRKNRSSVKTPETVVPAAPELQPSTSTDQPVTPEPTSRATRGRT NRSSVKTPESIVPIAPELQPSTSRNQLVTPEPTSRATRCRTNRSSVKTPEPVVPTAPEPH PTTSTDQPVTPKLTSRATRRKTNRSSVKTPKPVEPAASDLEPFTPTDQSVTPEAIAQGGQ SKTLRSSTVRAMPVPTTPEFQSPVTTDQPISPEPITQPSCIKRQRAAGNPGSLAAPIDHK PCSAPLEPKSQASRNQRWGAVRAAESLTAIPEPASPQLLETPIHASQIQKVEPAGRSRFT PELQPKASQSRKRSLATMDSPPHQKQPQRGEVSQKTVIIKEEEEDTAEKPGKEEDVVTPK PGKRKRDQAEEEPNRIPSRSLRRTKLNQESTAPKVLFTGVVDARGERAVLALGGSLAGSA AEASHLVTDRIRRTVKFLCALGRGIPILSLDWLHQSRKAGFFLPPDEYVVTDPEQEKNFG FSLQDALSRARERRLLEGYEIYVTPGVQPPPPQMGEIISCCGGTYLPSMPRSYKPQRVVI TCPQDFPHCSIPLRVGLPLLSPEFLLTGVLKQEAKPEAFVLSPLEMSST |