Gene Gene information from NCBI Gene database.
Entrez ID 9656
Gene name Mediator of DNA damage checkpoint 1
Gene symbol MDC1
Synonyms (NCBI Gene)
NFBD1
Chromosome 6
Chromosome location 6p21.33
Summary The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 13 repetitions of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase
miRNA miRNA information provided by mirtarbase database.
191
miRTarBase ID miRNA Experiments Reference
MIRT023516 hsa-miR-1-3p Proteomics 18668040
MIRT024535 hsa-miR-215-5p Microarray 19074876
MIRT050762 hsa-miR-17-3p CLASH 23622248
MIRT050697 hsa-miR-18a-5p CLASH 23622248
MIRT044086 hsa-miR-361-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
BRCA1 Unknown 22942284
STAT3 Unknown 20804538
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000076 Process DNA replication checkpoint signaling IDA 21482717
GO:0005515 Function Protein binding IPI 12607005, 16186822, 16377563, 17525332, 17577209, 18001824, 18001825, 18583988, 18678890, 19234442, 19804756, 20008512, 20159462, 20224574, 21293379, 24240613, 25064736, 29656893
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 15604234, 24217620, 24550317
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607593 21163 ENSG00000137337
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14676
Protein name Mediator of DNA damage checkpoint protein 1 (Nuclear factor with BRCT domains 1)
Protein function Histone reader protein required for checkpoint-mediated cell cycle arrest in response to DNA damage within both the S phase and G2/M phases of the cell cycle (PubMed:12475977, PubMed:12499369, PubMed:12551934, PubMed:12607003, PubMed:12607004, P
PDB 2ADO , 2AZM , 2ETX , 3K05 , 3UEO , 3UMZ , 3UN0 , 3UNM , 3UNN , 3UOT , 9IF9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00498 FHA 54 124 FHA domain Family
PF16770 RTT107_BRCT_5 1877 1970 Regulator of Ty1 transposition protein 107 BRCT domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis. {ECO:0000269|PubMed:12499369}.
Sequence
MEDTQAIDWDVEEEEETEQSSESLRCNVEPVGRLHIFSGAHGPEKDFPLHLGKNVVGRMP
DCSVALPFPSISKQHAEIEILAWDKAPILRDCGSLNGTQILRPPKVLSPGVSHRLRDQEL
ILFA
DLLCQYHRLDVSLPFVSRGPLTVEETPRVQGETQPQRLLLAEDSEEEVDFLSERRM
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
AEASHLVTDRIRRTVKFLCALGRGIPILSLDWLHQSRKAGFFLPPDEYVV
TDPEQEKNFG
FSLQDALSRARERRLLEGYEIYVTPGVQPPPPQMGEIISCCGGTYLPSMPRSYKPQRVVI
TCPQDFPHCSIPLRVGLPLLSPEFLLTGVLKQEAKPEAFVLSPLEMSST
Sequence length 2089
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    SUMOylation of DNA damage response and repair proteins
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Nonhomologous End-Joining (NHEJ)
Processing of DNA double-strand break ends
TP53 Regulates Transcription of DNA Repair Genes
G2/M DNA damage checkpoint