MDC1 (mediator of DNA damage checkpoint 1)

Gene

• Entrez ID: 9656
• Gene name: Mediator of DNA damage checkpoint 1
• Gene symbol: MDC1
• Synonyms: 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

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
MIRT043058	hsa-miR-324-5p	CLASH	23622248
MIRT043058	hsa-miR-324-5p	CLASH	23622248
MIRT041049	hsa-miR-505-3p	CLASH	23622248
MIRT040912	hsa-miR-18a-3p	CLASH	23622248
MIRT040462	hsa-miR-615-3p	CLASH	23622248
MIRT036863	hsa-miR-877-3p	CLASH	23622248
MIRT036863	hsa-miR-877-3p	CLASH	23622248
MIRT625804	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT625803	hsa-miR-188-5p	HITS-CLIP	23824327
MIRT625802	hsa-miR-6866-3p	HITS-CLIP	23824327
MIRT625801	hsa-miR-4729	HITS-CLIP	23824327
MIRT625800	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT625799	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT625798	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT625797	hsa-miR-5696	HITS-CLIP	23824327
MIRT625796	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT625795	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT625794	hsa-miR-4474-3p	HITS-CLIP	23824327
MIRT625793	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT625804	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT625803	hsa-miR-188-5p	HITS-CLIP	23824327
MIRT625802	hsa-miR-6866-3p	HITS-CLIP	23824327
MIRT625801	hsa-miR-4729	HITS-CLIP	23824327
MIRT625800	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT625799	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT625798	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT625797	hsa-miR-5696	HITS-CLIP	23824327
MIRT625796	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT625795	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT625794	hsa-miR-4474-3p	HITS-CLIP	23824327
MIRT625793	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT625804	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT625803	hsa-miR-188-5p	HITS-CLIP	23824327
MIRT625802	hsa-miR-6866-3p	HITS-CLIP	23824327
MIRT625801	hsa-miR-4729	HITS-CLIP	23824327
MIRT625800	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT625799	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT625798	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT625797	hsa-miR-5696	HITS-CLIP	23824327
MIRT625796	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT625795	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT625794	hsa-miR-4474-3p	HITS-CLIP	23824327
MIRT625793	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT625799	hsa-miR-2115-5p	PAR-CLIP	27292025
MIRT625804	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT625803	hsa-miR-188-5p	HITS-CLIP	23824327
MIRT625802	hsa-miR-6866-3p	HITS-CLIP	23824327
MIRT625801	hsa-miR-4729	HITS-CLIP	23824327
MIRT625800	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT625799	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT625798	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT625797	hsa-miR-5696	HITS-CLIP	23824327
MIRT625796	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT625795	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT625794	hsa-miR-4474-3p	HITS-CLIP	23824327
MIRT625793	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT625804	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT625803	hsa-miR-188-5p	HITS-CLIP	23824327
MIRT625802	hsa-miR-6866-3p	HITS-CLIP	23824327
MIRT625801	hsa-miR-4729	HITS-CLIP	23824327
MIRT625800	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT625799	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT625798	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT625797	hsa-miR-5696	HITS-CLIP	23824327
MIRT625796	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT625795	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT625794	hsa-miR-4474-3p	HITS-CLIP	23824327
MIRT625793	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT625804	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT625803	hsa-miR-188-5p	HITS-CLIP	23824327
MIRT625802	hsa-miR-6866-3p	HITS-CLIP	23824327
MIRT625801	hsa-miR-4729	HITS-CLIP	23824327
MIRT625800	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT625799	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT625798	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT625797	hsa-miR-5696	HITS-CLIP	23824327
MIRT625796	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT625795	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT625794	hsa-miR-4474-3p	HITS-CLIP	23824327
MIRT625793	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT1138432	hsa-let-7a	CLIP-seq
MIRT1138433	hsa-let-7b	CLIP-seq
MIRT1138434	hsa-let-7c	CLIP-seq
MIRT1138435	hsa-let-7d	CLIP-seq
MIRT1138436	hsa-let-7e	CLIP-seq
MIRT1138437	hsa-let-7f	CLIP-seq
MIRT1138438	hsa-let-7g	CLIP-seq
MIRT1138439	hsa-let-7i	CLIP-seq
MIRT1138440	hsa-miR-1197	CLIP-seq
MIRT1138441	hsa-miR-3942-5p	CLIP-seq
MIRT1138442	hsa-miR-4257	CLIP-seq
MIRT1138443	hsa-miR-4266	CLIP-seq
MIRT1138444	hsa-miR-4458	CLIP-seq
MIRT1138445	hsa-miR-4481	CLIP-seq
MIRT1138446	hsa-miR-4500	CLIP-seq
MIRT1138447	hsa-miR-4642	CLIP-seq
MIRT1138448	hsa-miR-4695-5p	CLIP-seq
MIRT1138449	hsa-miR-4703-5p	CLIP-seq
MIRT1138450	hsa-miR-4745-5p	CLIP-seq
MIRT1138451	hsa-miR-4758-5p	CLIP-seq
MIRT1138452	hsa-miR-4779	CLIP-seq
MIRT1138453	hsa-miR-98	CLIP-seq
MIRT2039258	hsa-miR-3200-5p	CLIP-seq
MIRT2039259	hsa-miR-382	CLIP-seq
MIRT2039260	hsa-miR-3913-3p	CLIP-seq
MIRT2039261	hsa-miR-425	CLIP-seq
MIRT2039262	hsa-miR-4252	CLIP-seq
MIRT2039263	hsa-miR-4303	CLIP-seq
MIRT2039264	hsa-miR-4436a	CLIP-seq
MIRT2039265	hsa-miR-4716-5p	CLIP-seq
MIRT2039266	hsa-miR-4738-3p	CLIP-seq
MIRT2039267	hsa-miR-489	CLIP-seq
MIRT1138432	hsa-let-7a	CLIP-seq
MIRT1138433	hsa-let-7b	CLIP-seq
MIRT1138434	hsa-let-7c	CLIP-seq
MIRT1138435	hsa-let-7d	CLIP-seq
MIRT1138436	hsa-let-7e	CLIP-seq
MIRT1138437	hsa-let-7f	CLIP-seq
MIRT1138438	hsa-let-7g	CLIP-seq
MIRT1138439	hsa-let-7i	CLIP-seq
MIRT1138440	hsa-miR-1197	CLIP-seq
MIRT2269343	hsa-miR-2115	CLIP-seq
MIRT1138443	hsa-miR-4266	CLIP-seq
MIRT1138444	hsa-miR-4458	CLIP-seq
MIRT1138446	hsa-miR-4500	CLIP-seq
MIRT1138448	hsa-miR-4695-5p	CLIP-seq
MIRT2269344	hsa-miR-4744	CLIP-seq
MIRT1138452	hsa-miR-4779	CLIP-seq
MIRT1138453	hsa-miR-98	CLIP-seq
MIRT1138432	hsa-let-7a	CLIP-seq
MIRT1138433	hsa-let-7b	CLIP-seq
MIRT1138434	hsa-let-7c	CLIP-seq
MIRT1138435	hsa-let-7d	CLIP-seq
MIRT1138436	hsa-let-7e	CLIP-seq
MIRT1138437	hsa-let-7f	CLIP-seq
MIRT1138438	hsa-let-7g	CLIP-seq
MIRT1138439	hsa-let-7i	CLIP-seq
MIRT2568544	hsa-miR-1273f	CLIP-seq
MIRT2568545	hsa-miR-216a	CLIP-seq
MIRT2568546	hsa-miR-3121-3p	CLIP-seq
MIRT2568547	hsa-miR-3187-3p	CLIP-seq
MIRT2039258	hsa-miR-3200-5p	CLIP-seq
MIRT2568548	hsa-miR-3662	CLIP-seq
MIRT2568549	hsa-miR-374c	CLIP-seq
MIRT2039260	hsa-miR-3913-3p	CLIP-seq
MIRT2568550	hsa-miR-3973	CLIP-seq
MIRT2568551	hsa-miR-3976	CLIP-seq
MIRT2039261	hsa-miR-425	CLIP-seq
MIRT2039262	hsa-miR-4252	CLIP-seq
MIRT2568552	hsa-miR-4264	CLIP-seq
MIRT1138443	hsa-miR-4266	CLIP-seq
MIRT2039263	hsa-miR-4303	CLIP-seq
MIRT1138444	hsa-miR-4458	CLIP-seq
MIRT1138446	hsa-miR-4500	CLIP-seq
MIRT2568553	hsa-miR-4529-5p	CLIP-seq
MIRT2568554	hsa-miR-4661-5p	CLIP-seq
MIRT1138448	hsa-miR-4695-5p	CLIP-seq
MIRT2568555	hsa-miR-4735-5p	CLIP-seq
MIRT2039266	hsa-miR-4738-3p	CLIP-seq
MIRT2568556	hsa-miR-4775	CLIP-seq
MIRT1138452	hsa-miR-4779	CLIP-seq
MIRT2568557	hsa-miR-4797-3p	CLIP-seq
MIRT2039267	hsa-miR-489	CLIP-seq
MIRT2568558	hsa-miR-548a-5p	CLIP-seq
MIRT2568559	hsa-miR-548ab	CLIP-seq
MIRT2568560	hsa-miR-548ak	CLIP-seq
MIRT2568561	hsa-miR-548b-5p	CLIP-seq
MIRT2568562	hsa-miR-548c-5p	CLIP-seq
MIRT2568563	hsa-miR-548d-5p	CLIP-seq
MIRT2568564	hsa-miR-548h	CLIP-seq
MIRT2568565	hsa-miR-548i	CLIP-seq
MIRT2568566	hsa-miR-548j	CLIP-seq
MIRT2568567	hsa-miR-548w	CLIP-seq
MIRT2568568	hsa-miR-548y	CLIP-seq
MIRT2568569	hsa-miR-559	CLIP-seq
MIRT2568570	hsa-miR-590-3p	CLIP-seq
MIRT2568571	hsa-miR-655	CLIP-seq
MIRT1138453	hsa-miR-98	CLIP-seq
MIRT2039258	hsa-miR-3200-5p	CLIP-seq
MIRT2039260	hsa-miR-3913-3p	CLIP-seq
MIRT2039261	hsa-miR-425	CLIP-seq
MIRT2039262	hsa-miR-4252	CLIP-seq
MIRT2039263	hsa-miR-4303	CLIP-seq
MIRT2568554	hsa-miR-4661-5p	CLIP-seq
MIRT2039266	hsa-miR-4738-3p	CLIP-seq
MIRT2039267	hsa-miR-489	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BRCA1	Unknown	22942284
STAT3	Unknown	20804538

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12607005, 16186822, 16377563, 17525332, 18001824, 18001825, 18583988, 18678890, 19234442, 19804756, 20159462, 20224574, 21293379, 24240613, 25064736, 29656893
GO:0005634	Component	Nucleus	IDA	15604234, 24217620, 24550317
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	ISS
GO:0005925	Component	Focal adhesion	IDA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	TAS
GO:0008022	Function	Protein C-terminus binding	IPI	17577209
GO:0016604	Component	Nuclear body	IDA
GO:0031573	Process	Intra-S DNA damage checkpoint	TAS	17577209
GO:0042802	Function	Identical protein binding	IPI	21293379, 29656893
GO:0070975	Function	FHA domain binding	IPI	20008512

Other IDs

• MIM: 607593
• HGNC: 21163
• e!Ensembl: ENSG00000137337

Protein

• UniProt ID: 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

• Sequence:

  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

• Sequence length: 2089

Pathways

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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	19503088