Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9656
Gene name Gene Name - the full gene name approved by the HGNC.	Mediator of DNA damage checkpoint 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MDC1
Synonyms (NCBI Gene) Gene synonyms aliases	NFBD1
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p21.33
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(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
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

Show/Hide all(2)

Transcription factor	Regulation	Reference
BRCA1	Unknown	22942284
STAT3	Unknown	20804538

Show/Hide all(12)

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

MIM	HGNC	e!Ensembl
607593	21163	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

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in testis. {ECO:0000269|PubMed:12499369}.

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

Interactions

View interactions

	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

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	19503088

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text Mining
Aneuploidy	Associate	18635967
Behcet Syndrome	Associate	31223615
Breast Neoplasms	Associate	18635967, 33017027, 33947745
Carcinoma Lobular	Associate	33947745
Disease	Associate	25198518
DNA Virus Infections	Associate	30598506
Endometrial Neoplasms	Associate	31810920
HIV Infections	Associate	33450518
Infertility Male	Associate	34089056
Lung Neoplasms	Associate	25198518
Nasopharyngeal Carcinoma	Associate	30717758
Neoplasms	Inhibit	18635967, 25514464
Neoplasms	Associate	23569343, 24194938, 25198518, 27465548, 30179224, 40626562
Neoplasms Adipose Tissue	Associate	34321534
Ocular Motility Disorders	Associate	34089056
Ovarian Neoplasms	Associate	24752797
Rett Syndrome	Associate	26181491
Stomach Neoplasms	Associate	23569343
Triple Negative Breast Neoplasms	Associate	26577420
Turcot syndrome	Associate	31810920
Urinary Bladder Neoplasms	Associate	25514464
Uterine Cervical Neoplasms	Associate	30179224, 32160908
Uveitis	Associate	25515573

MDC1 (mediator of DNA damage checkpoint 1)