| Gene ID | 9656 |
| Symbol | MDC1 |
| Synonymous | NFBD1 |
| Full name | mediator of DNA-damage checkpoint 1 |
| Gene description | 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 |
| Cytoband | 6p21.3 |
| Gene type | protein-coding |
| Synonymous | MIM:607593; HGNC:HGNC:21163; Ensembl:ENSG00000137337; HPRD:16252; Vega:OTTHUMG00000031075 |
Pathways and Diseases | Detail |
|---|---|
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 |
Sequence Information | |
|---|---|
Nucleotide Sequence | >9656 : length: 7651 CGCCCCTCGAAAGGTGGGGACAGCCTTTAAGACAGAGAGCAAACCAGTTTTCTCTGTTCGACTACAGATCTTTAGGATCTTGGATTTAAGAAAATGACCTCAAAATGTCCGTCAGAGACG TATTCCCAGGAAGAAAGATATTACTTCTACTACAAACCAAATCAAAAGGAAATGAAATTCCAATGCAACAGGAGTGAACTGCCACGCCTACGGGCTGTTCTCCAAACTGCAGCCTCCAGC CACGACTGCAACGCGCAACCCACTTTCATTTCTCATGAGTCAGCGGACACCATGTCTAGGAGGACCGAGGAAAGGCGCTCTGGCCTTACCAGACACGTCGGACGTCTATGACACAGCCCC TCTATCCGTTGCCGGCAGCTGGCGCCAGACTCTCTGGTCGCGGTTTGGAACTGCGCGGGAAGTGGGTGGTGGGCGGGCAAGCGGTAGTGGGTTGTCCCTTGGAGCTGCCCAATCGACGTG CATTATTCTGTTGGCGCACGGCGGCCTTCAATTACCGTCTCATTAACTGATCTCAGCAGCCTGGGAGACACCACCTATTTGAACTCTAAGGGGGCGGGGCTTTGGGTGTGCCTCCGCTCG ACTGGCTGCGGTTGTGAAAGACAGCGGCAGAAGCCAATCAGCAAATAAGCTCTTTTTCGGCACACGCAGTCGCTCCACCCGGGTCGCGACCGTTACTGGTGGCGCGCGCGGGGACTTAAA ATCATGGAGGACACCCAGGCTATTGACTGGGATGTTGAAGAAGAGGAGGAGACAGAGCAATCCAGTGAATCCTTGAGGTGTAACGTGGAGCCAGTAGGGCGGCTACATATCTTTAGTGGT GCCCATGGACCAGAAAAAGATTTCCCACTACACCTCGGGAAGAATGTGGTAGGCCGAATGCCTGACTGCTCTGTGGCCCTGCCCTTTCCATCTATCTCCAAACAACATGCAGAGATTGAA ATCTTAGCCTGGGACAAGGCACCTATCCTCCGAGACTGTGGGAGCCTTAATGGTACTCAAATCCTGAGACCTCCTAAGGTTTTGAGCCCTGGGGTGAGTCACCGTCTGAGGGACCAGGAA TTGATTCTCTTTGCTGACTTGCTCTGCCAGTACCATCGCCTGGATGTCTCTCTGCCCTTTGTCTCCCGGGGCCCTCTGACAGTAGAAGAGACACCCAGAGTACAGGGAGAAACTCAACCC CAGAGGCTTCTGTTGGCTGAGGACTCGGAGGAGGAAGTAGATTTTCTTTCTGAAAGGCGTATGGTAAAAAAATCAAGGACCACATCTTCCTCTGTGATAGTTCCAGAGAGTGATGAAGAG GGGCATTCCCCGGTCCTGGGCGGCCTTGGGCCGCCTTTTGCCTTCAATTTGAACAGTGACACAGATGTGGAAGAAGGTCAGCAACCAGCCACAGAGGAGGCCTCCTCAGCTGCCAGAAGA GGTGCCACTGTAGAGGCAAAGCAGTCTGAAGCTGAAGTTGTAACTGAAATCCAGCTTGAAAAGGATCAGCCTTTAGTGAAGGAGAGGGACAATGATACAAAAGTCAAGAGGGGTGCAGGG AATGGGGTGGTTCCAGCTGGGGTGATTCTGGAGAGGAGCCAACCTCCTGGAGAGGACAGTGACACAGATGTGGATGATGACAGCAGGCCTCCTGGAAGGCCAGCTGAGGTCCATTTGGAA AGGGCTCAGCCTTTTGGCTTCATCGACAGCGACACTGATGCGGAAGAAGAGAGGATCCCAGCAACCCCAGTTGTCATTCCTATGAAGAAGAGGAAGATCTTCCATGGAGTAGGTACAAGG GGTCCTGGAGCACCAGGCCTGGCCCATCTGCAGGAGAGCCAGGCTGGTAGTGATACAGATGTGGAAGAAGGCAAGGCCCCACAGGCTGTCCCTCTGGAGAAAAGCCAAGCTTCCATGGTT ATCAACAGCGATACAGATGACGAGGAAGAAGTCTCAGCAGCGCTGACTTTGGCACATCTGAAAGAGAGCCAGCCTGCTATATGGAACAGAGATGCAGAAGAGGACATGCCCCAACGTGTG GTCCTTCTGCAGCGAAGCCAAACCACCACTGAGAGAGACAGTGACACAGACGTGGAGGAGGAAGAGCTCCCAGTGGAAAATAGAGAAGCTGTCCTCAAGGATCACACAAAGATTAGAGCC CTTGTTAGAGCACATTCAGAAAAGGACCAACCTCCTTTTGGGGACAGTGATGACAGTGTGGAAGCAGATAAGAGCTCACCTGGGATCCACCTGGAGAGAAGCCAAGCCTCCACCACAGTG GACATCAACACACAAGTGGAGAAGGAAGTCCCGCCAGGGTCAGCCATTATACATATAAAGAAGCATCAGGTGTCTGTGGAGGGGACAAATCAAACAGATGTGAAAGCAGTTGGGGGACCA GCAAAGCTGCTTGTGGTATCTCTAGAGGAAGCCTGGCCTCTGCATGGGGACTGTGAAACAGATGCAGAGGAGGGCACCTCCCTAACAGCCTCAGTAGTTGCAGATGTAAGAAAGAGCCAG CTTCCAGCAGAAGGGGATGCTGGGGCAGAGTGGGCTGCAGCTGTTCTTAAGCAGGAGAGAGCTCATGAGGTGGGGGCCCAGGGTGGGCCACCTGTGGCACAAGTGGAGCAGGACCTCCCT ATCTCAAGAGAGAACCTCACAGATCTGGTGGTGGACACAGACACTCTAGGGGAATCCACCCAGCCACAGAGAGAGGGAGCCCAGGTCCCCACAGGAAGGGAGAGAGAACAACATGTGGGT GGGACCAAGGACTCTGAAGACAACTATGGTGATTCTGAAGATCTGGACCTACAAGCTACCCAGTGCTTTCTGGAGAATCAGGGCCTGGAAGCAGTCCAGAGCATGGAGGATGAACCTACC CAGGCCTTCATGTTGACTCCACCCCAAGAGCTTGGCCCTTCCCATTGCAGCTTCCAGACAACAGGTACCCTAGATGAACCATGGGAGGTCCTGGCTACACAGCCATTCTGTCTGAGAGAG TCTGAGGACTCTGAGACCCAGCCTTTTGACACGCACCTTGAGGCCTATGGACCTTGCCTGTCTCCACCTAGGGCAATACCAGGAGACCAACATCCAGAGAGCCCAGTTCACACAGAGCCA ATGGGGATTCAAGGCAGAGGGAGGCAGACTGTGGATAAAGTCATGGGTATACCAAAAGAAACAGCAGAGAGGGTGGGCCCTGAGAGAGGGCCATTGGAGAGAGAAACTGAGAAACTGCTA CCAGAAAGACAGACAGATGTGACAGGAGAGGAAGAATTAACCAAGGGGAAACAGGACAGAGAACAAAAACAGTTGTTAGCTAGAGACACCCAGAGACAAGAATCTGACAAAAATGGGGAA AGTGCAAGTCCTGAAAGAGATAGGGAGAGTTTGAAGGTAGAAATTGAGACATCTGAGGAAATACAAGAGAAACAAGTACAGAAGCAGACCCTTCCAAGCAAAGCATTTGAGAGAGAAGTA GAGAGACCAGTAGCAAACAGAGAGTGCGATCCAGCCGAGTTAGAAGAGAAGGTGCCCAAAGTGATCCTGGAGAGAGATACACAGAGAGGGGAGCCAGAGGGAGGGAGCCAGGACCAGAAA GGGCAGGCCTCCAGCCCAACACCAGAGCCTGGGGTGGGGGCGGGGGACCTTCCGGGACCTACCTCAGCCCCCGTACCTTCTGGGAGCCAGTCAGGTGGAAGGGGATCCCCAGTGAGCCCC AGGAGGCATCAGAAAGGCCTCCTGAATTGCAAGATGCCACCTGCTGAGAAGGCTTCCAGGATCAGAGCTGCTGAGAAGGTTTCCAGGGGCGATCAGGAATCTCCAGATGCTTGTCTGCCT CCTACAGTACCTGAAGCCCCAGCCCCACCCCAAAAGCCCCTTAACTCTCAGAGCCAGAAACATCTTGCACCTCCGCCCCTTCTTTCTCCCCTTTTACCTTCTATCAAGCCAACCGTTCGT AAGACCAGGCAAGATGGGAGTCAGGAAGCTCCAGAGGCTCCCTTGTCCTCAGAGCTGGAGCCTTTCCACCCAAAGCCTAAAATTAGAACTCGGAAGTCCTCCAGAATGACACCCTTTCCA GCTACCTCTGCTGCCCCTGAGCCCCACCCTTCCACCTCCACAGCCCAGCCAGTCACTCCCAAGCCCACATCTCAGGCCACTAGGAGCAGGACAAATAGGTCCTCTGTCAAGACCCCTGAA CCAGTTGTCCCCACAGCCCCTGAGCTCCAGCCTTCCACCTCCACAGACCAGCCTGTCACCTCTGAGCCCACATCTCAGGTTACTAGGGGAAGAAAAAGTAGATCCTCTGTCAAGACCCCT GAAACAGTTGTGCCCACAGCCCTTGAGCTCCAGCCTTCCACCTCCACCGACCGACCTGTCACCTCTGAACCCACCTCTCAGGCTACTAGGGGAAGAAAAAATAGATCCTCTGTCAAGACC CCTGAACCAGTTGTCCCCACAGCCCCTGAGCTCCAGCCTTCCACCTCCACAGACCAGCCTGTCACTTCTGAGCCCACATATCAGGCTACTAGGGGAAGAAAAAATAGATCCTCTGTCAAG ACCCCTGAACCAGTTGTGCCCACAGCCCCTGAGCTCCGGCCTTCCACCTCCACAGACCGACCTGTCACCCCCAAGCCCACATCTCGGACCACTAGGAGCAGGACAAATATGTCCTCTGTC AAGACCCCTGAAACAGTTGTCCCCACAGCCCCTGAGCTCCAGATTTCCACCTCCACAGACCAACCTGTCACCCCTAAGCCCACATCTCGGACCACTAGGAGCAGGACAAATATGTCCTCT GTGAAGAACCCTGAATCAACTGTCCCTATAGCCCCTGAGCTCCCACCTTCCACCTCCACAGAGCAGCCTGTCACCCCTGAGCCCACATCTCGGGCTACTAGGGGAAGAAAAAATAGATCC TCTGGCAAGACCCCTGAAACACTTGTCCCCACAGCCCCTAAGCTCGAGCCTTCCACTTCCACAGACCAACCTGTCACTCCTGAGCCCACATCTCAGGCCACCAGGGGCAGGACAAATAGG TCCTCTGTGAAGACCCCTGAAACAGTTGTCCCCACAGCCCCTGAGCTCCAGCCTTCCACCTCCACAGACCAGCCTGTTACCCCTGAGCCTACGTCTCAGGCTACTAGGGGAAGAACAGAT AGATCCTCTGTCAAGACTCCTGAAACAGTTGTCCCCACAGCCCCTGAGCTACAGGCTTCCGCCTCCACAGACCAGCCTGTCACCTCTGAGCCCACATCTCGGACCACTAGGGGAAGAAAA AATCGGTCCTCTGTCAAGACCCCTGAAACAGTTGTGCCCGCAGCCCCTGAGCTCCAGCCTTCCACCTCCACAGACCAACCTGTCACCCCTGAGCCCACATCTCGGGCCACTAGGGGCAGG ACAAATAGGTCCTCTGTCAAGACCCCTGAATCAATTGTCCCTATAGCCCCTGAGCTTCAGCCTTCCACCTCCAGAAACCAGCTTGTCACCCCTGAGCCCACATCTCGGGCCACTAGGTGC AGGACAAATAGGTCCTCTGTCAAGACCCCTGAGCCAGTTGTCCCCACAGCCCCTGAGCCCCATCCTACCACCTCCACAGACCAGCCTGTCACCCCCAAGCTCACATCTAGGGCCACTAGG AGAAAGACAAATAGGTCCTCTGTCAAGACTCCCAAACCAGTTGAACCAGCAGCGTCTGATCTTGAGCCTTTTACCCCCACAGACCAGTCCGTCACCCCTGAGGCCATAGCTCAGGGTGGT CAGAGCAAAACACTGAGGTCTTCCACAGTAAGAGCTATGCCGGTTCCTACCACCCCTGAATTCCAATCTCCTGTCACCACAGACCAGCCTATTTCCCCTGAGCCTATTACTCAACCCAGT TGCATCAAGAGGCAGAGAGCCGCTGGGAACCCTGGCTCCCTCGCAGCTCCCATTGACCATAAGCCTTGCTCTGCACCCTTGGAACCTAAATCCCAGGCCTCAAGGAACCAAAGATGGGGA GCAGTGAGAGCAGCTGAATCCCTTACAGCCATTCCTGAGCCTGCCTCTCCCCAGCTTCTTGAGACACCAATTCATGCCTCCCAGATCCAAAAGGTGGAACCAGCAGGTAGATCTAGGTTC ACCCCGGAGCTCCAGCCTAAGGCCTCTCAAAGCCGCAAGAGGTCTTTAGCTACCATGGATTCACCACCACATCAAAAACAGCCCCAAAGAGGGGAAGTCTCCCAGAAGACAGTGATTATC AAGGAAGAGGAAGAAGATACTGCAGAGAAGCCAGGGAAGGAAGAGGATGTCGTGACTCCAAAACCAGGCAAGAGAAAGAGAGACCAGGCAGAGGAGGAGCCCAACAGAATACCAAGCCGC AGCCTCCGACGGACCAAACTTAACCAAGAATCAACAGCCCCCAAAGTGCTCTTCACAGGAGTGGTGGATGCTCGGGGAGAGCGGGCTGTGCTGGCACTGGGGGGAAGTCTGGCTGGTTCA GCGGCAGAGGCTTCCCACCTGGTCACTGATCGCATCCGCCGGACAGTCAAGTTCCTGTGTGCCCTGGGGCGGGGAATCCCCATTCTGTCCCTGGACTGGCTGCATCAGTCCCGCAAGGCT GGTTTCTTCTTACCCCCGGATGAATATGTGGTGACCGACCCTGAGCAAGAGAAGAACTTTGGCTTTAGCCTTCAAGACGCACTGAGCAGGGCTCGGGAGCGAAGGCTGCTAGAGGGCTAT GAGATCTATGTGACCCCTGGAGTCCAGCCACCACCACCTCAGATGGGAGAGATTATTAGCTGCTGTGGAGGCACATACCTACCCAGCATGCCTCGGTCCTATAAGCCTCAGAGAGTTGTG ATCACATGCCCTCAGGACTTCCCTCATTGCTCCATTCCACTACGGGTTGGGCTGCCCCTCCTCTCGCCTGAGTTCCTGCTGACTGGAGTGCTGAAGCAGGAAGCCAAGCCAGAGGCCTTT GTCCTCTCCCCTTTGGAGATGTCATCCACCTGAGAACTCCACTACCCTTTTCCCTCCCAGACCACGAATTAGAAGATATGTGGAAGAAAGAACTCAGGGCGTTAGAAAGGATTGGGGTAT ATTGATACAACTTGTCCTGGAACATGGGTGGGACCAGAAATCTTTATGAATAAATGAAAAGATAAGGGATTTGGAAGCCACAGGTTGTTTTTTGTTTGTTTGTTTGTTTTTTTAATGGCC ATTTTATTTTATTTGTATTTATAGTTTTTTATTTGTATAGATTTAGGGGATACAAGATTTCTTACATGCATGTATTAAATGGCCATTTTAAAATTAGCTAGTTTCATGCTCAGATGTCAT AAGTGGCAGCTATCTTTAGCCAGACTGTTGCAGTTATTGCTCGATGCCACTCATGGTGTCCTACCTCCTATTTGGAAACCATCTCTATTTTTTTCTTACTGAGATTCTTACTTTGGGGTC AGGAACTTGAAGGGATGCTTGGAGTGAGTAGATTTGAGGGTCCAGTTATGGAGTGCTACTAAAACATTTTCTTCTCTCCTGGCCTCTGGAAGCATCTTTAGCTTTGACTTTGGGCAAGTC TCTGTACTTTTCTGGCCAGCTTTTCCAGGATTTATAAAATTAGAGCTTCGGCTTGACCTCTGTGATAAATAAATATTCACTCTGTGCCTTA |
Protein Sequence | >9656 : length: 2110 MGHPTFPTCQQFPSRVAYFQIMEDTQAIDWDVEEEEETEQSSESLRCNVEPVGRLHIFSGAHGPEKDFPLHLGKNVVGRMPDCSVALPFPSISKQHAEIEILAWDKAPILRDCGSLNGTQ ILRPPKVLSPGVSHRLRDQELILFADLLCQYHRLDVSLPFVSRGPLTVEETPRVQGETQPQRLLLAEDSEEEVDFLSERRMVKKSRTTSSSVIVPESDEEGHSPVLGGLGPPFAFNLNSD TDVEEGQQPATEEASSAARRGATVEAKQSEAEVVTEIQLEKDQPLVKEKDNDTKVKRGAGNGVVPAGVILERSQPPGEDSDTDVDDDSRPPGRPAEVHLERAQPFGFIDSDTDAEEERIP ATPVVIPMKKRKIFHGVGTRGPGAPGLAHLQESQAGSDTDVEEGKAPQAVPLEKSQASMVINSDTDDEEEVSAALTLAHLKESQPAIWNRDAEEDMPQRVVLLQRSQTTTERDSDTDVEE EELPVENREAVLKDHTKIRALVRAHSEKDQPPFGDSDDSVEADKSSPGIHLERSQASTTVDINTQVEKEVPPGSAIIHIKKHQVSVEGTNQTDVKAVGGPAKLLVVSLEEAWPLHGDCET DAEEGTSLTASVVADVRKSQLPAEGDAGAEWAAAVLKQERAHEVGAQGGPPVAQVEQDLPISRENLTDLVVDTDTLGESTQPQREGAQVPTGREREQHVGGTKDSEDNYGDSEDLDLQAT QCFLENQGLEAVQSMEDEPTQAFMLTPPQELGPSHCSFQTTGTLDEPWEVLATQPFCLRESEDSETQPFDTHLEAYGPCLSPPRAIPGDQHPESPVHTEPMGIQGRGRQTVDKVMGIPKE TAERVGPERGPLERETEKLLPERQTDVTGEEELTKGKQDREQKQLLARDTQRQESDKNGESASPERDRESLKVEIETSEEIQEKQVQKQTLPSKAFEREVERPVANRECDPAELEEKVPK VILERDTQRGEPEGGSQDQKGQASSPTPEPGVGAGDLPGPTSAPVPSGSQSGGRGSPVSPRRHQKGLLNCKMPPAEKASRIRAAEKVSRGDQESPDACLPPTVPEAPAPPQKPLNSQSQK HLAPPPLLSPLLPSIKPTVRKTRQDGSQEAPEAPLSSELEPFHPKPKIRTRKSSRMTPFPATSAAPEPHPSTSTAQPVTPKPTSQATRSRTNRSSVKTPEPVVPTAPELQPSTSTDQPVT SEPTSQVTRGRKSRSSVKTPETVVPTALELQPSTSTDRPVTSEPTSQATRGRKNRSSVKTPEPVVPTAPELQPSTSTDQPVTSEPTYQATRGRKNRSSVKTPEPVVPTAPELRPSTSTDR PVTPKPTSRTTRSRTNMSSVKTPETVVPTAPELQISTSTDQPVTPKPTSRTTRSRTNMSSVKNPESTVPIAPELPPSTSTEQPVTPEPTSRATRGRKNRSSGKTPETLVPTAPKLEPSTS TDQPVTPEPTSQATRGRTNRSSVKTPETVVPTAPELQPSTSTDQPVTPEPTSQATRGRTDRSSVKTPETVVPTAPELQASASTDQPVTSEPTSRTTRGRKNRSSVKTPETVVPAAPELQP STSTDQPVTPEPTSRATRGRTNRSSVKTPESIVPIAPELQPSTSRNQLVTPEPTSRATRCRTNRSSVKTPEPVVPTAPEPHPTTSTDQPVTPKLTSRATRRKTNRSSVKTPKPVEPAASD LEPFTPTDQSVTPEAIAQGGQSKTLRSSTVRAMPVPTTPEFQSPVTTDQPISPEPITQPSCIKRQRAAGNPGSLAAPIDHKPCSAPLEPKSQASRNQRWGAVRAAESLTAIPEPASPQLL ETPIHASQIQKVEPAGRSRFTPELQPKASQSRKRSLATMDSPPHQKQPQRGEVSQKTVIIKEEEEDTAEKPGKEEDVVTPKPGKRKRDQAEEEPNRIPSRSLRRTKLNQESTAPKVLFTG VVDARGERAVLALGGSLAGSAAEASHLVTDRIRRTVKFLCALGRGIPILSLDWLHQSRKAGFFLPPDEYVVTDPEQEKNFGFSLQDALSRARERRLLEGYEIYVTPGVQPPPPQMGEIIS CCGGTYLPSMPRSYKPQRVVITCPQDFPHCSIPLRVGLPLLSPEFLLTGVLKQEAKPEAFVLSPLEMSST |