PCOSBase

Protein Description

Gene Symbol	MDC1
Entrez ID	9656
Uniprot ID	Q14676
Description	mediator of DNA damage checkpoint 1
Chromosomal Location	chr6: 30,699,807-30,717,889

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Ontology	GO ID	GO Term	Definition	Evidence
BP	GO:0006303	double-strand break repair via nonhomologous end joining	The repair of a double-strand break in DNA in which the two broken ends are rejoined with little or no sequence complementarity. Information at the DNA ends may be lost due to the modification of broken DNA ends. This term covers instances of separate pathways, called classical (or canonical) and alternative nonhomologous end joining (C-NHEJ and A-NHEJ). These in turn may further branch into sub-pathways, but evidence is still unclear.	TAS
BP	GO:0016925	protein sumoylation	The process in which a SUMO protein (small ubiquitin-related modifier) is conjugated to a target protein via an isopeptide bond between the carboxyl terminus of SUMO with an epsilon-amino group of a lysine residue of the target protein.	TAS
BP	GO:0031573	intra-S DNA damage checkpoint	A mitotic cell cycle checkpoint that slows DNA synthesis in response to DNA damage by the prevention of new origin firing and the stabilization of slow replication fork progression.	TAS
CC	GO:0005634	nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.	IDA
CC	GO:0005654	nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.	IDA\|TAS
CC	GO:0005694	chromosome	A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.	ISS
CC	GO:0005925	focal adhesion	Small region on the surface of a cell that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments.	IDA
MF	GO:0005515	protein binding	Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules).	IPI
MF	GO:0008022	protein C-terminus binding	Interacting selectively and non-covalently with a protein C-terminus, the end of any peptide chain at which the 1-carboxy function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.	IPI
MF	GO:0070975	FHA domain binding	Interacting selectively and non-covalently with a FHA domain of a protein. The FHA domain is a phosphopeptide recognition domain found in many regulatory proteins, and consists of approximately 80-100 amino acid residues folded into an 11-stranded beta sandwich.	IPI

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Domain ID	Description
IPR000253	Forkhead-associated (FHA) domain
IPR001357	BRCT domain
IPR008984	SMAD/FHA domain

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Pathway ID	Pathway Term	Pathway Source
WP2516	ATM Signaling Pathway	WikiPathways
WP3878	ATM Signaling Network in Development and Disease	WikiPathways
WP3959	DNA IR-Double Strand Breaks (DSBs) and cellular response via ATM	WikiPathways

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No diseases found.

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Tissue	Cell Type
adrenal gland	glandular cells
appendix	glandular cells
appendix	lymphoid tissue
bone marrow	hematopoietic cells
breast	glandular cells
bronchus	respiratory epithelial cells
caudate	glial cells
cerebellum	cells in molecular layer
cerebellum	Purkinje cells
cerebral cortex	glial cells
cerebral cortex	neuronal cells
colon	glandular cells
colon	peripheral nerve/ganglion
endometrium	glandular cells
esophagus	squamous epithelial cells
gallbladder	glandular cells
kidney	cells in tubules
lung	pneumocytes
lymph node	germinal center cells
nasopharynx	respiratory epithelial cells
oral mucosa	squamous epithelial cells
pancreas	exocrine glandular cells
placenta	decidual cells
placenta	trophoblastic cells
rectum	glandular cells
skeletal muscle	myocytes
skin	keratinocytes
skin	melanocytes
small intestine	glandular cells
smooth muscle	smooth muscle cells
spleen	cells in white pulp
testis	cells in seminiferous ducts
thyroid gland	glandular cells
urinary bladder	urothelial cells

No databases found.

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Pubmed ID	Author	Year	Title
22617121	Ouandaogo et al.	2012	Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation

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Gene Symbol	Entrez ID	Uniprot ID	Score
HNRNPU	3192	Q00839	0.49
SMARCC1	6599	Q92922	0.49
SMARCD2	6603	Q92925	0.49
SSBP3	23648	Q9BWW4	0.49
CCNA2	890	P20248	0.52
CCNB1	891	P14635	0.52
NCL	4691	P19338	0.56
MDC1	9656	Q14676	0.62
ATP2A2	488	P16615	0.63
CAPZA1	829	P52907	0.63
CAPZB	832	P47756	0.63
CDC5L	988	Q99459	0.63
CENPC	1060	Q03188	0.63
CSRP2	1466	Q16527	0.63
EMD	2010	P50402	0.63
ENO1	2023	P06733	0.63
EPS8	2059	Q12929	0.63
FLNA	2316	P21333	0.63
FLNB	2317	O75369	0.63
GATA4	2626	P43694	0.63
HNRNPC	3183	P07910	0.63
KPNB1	3837	Q14974	0.63
LOX	4015	P28300	0.63
MKI67	4288	P46013	0.63
MPG	4350	P29372	0.63
MYO1D	4642	O94832	0.63
NDUFA10	4705	O95299	0.63
NUMA1	4926	Q14980	0.63
PDHB	5162	P11177	0.63
PLRG1	5356	O43660	0.63
POLR2B	5431	P30876	0.63
POLR2C	5432	P19387	0.63
POLR2E	5434	P19388	0.63
PPP1CA	5499	P62136	0.63
PPP2CA	5515	P67775	0.63
PRIM1	5557	P49642	0.63
ABCD3	5825	P28288	0.63
PYCR1	5831	P32322	0.63
RFC2	5982	P35250	0.63
RFC4	5984	P35249	0.63
RFC5	5985	P40937	0.63
ATXN2	6311	Q99700	0.63
SRSF1	6426	Q07955	0.63
SNRPB	6628	P14678	0.63
SSR1	6745	P43307	0.63
STAU1	6780	O95793	0.63
SUPT6H	6830	Q7KZ85	0.63
TPM1	7168	P09493	0.63
TPM3	7170	P06753	0.63
VDAC1	7416	P21796	0.63
VDAC2	7417	P45880	0.63
WRN	7486	Q14191	0.63
YWHAZ	7534	P63104	0.63
SLC25A11	8402	Q02978	0.63
TAGLN2	8407	P37802	0.63
PRKRA	8575	O75569	0.63
SRSF9	8683	Q13242	0.63
CDC23	8697	Q9UJX2	0.63
HERC2	8924	O95714	0.63
TRIP13	9319	Q15645	0.63
RECQL5	9400	O94762	0.63
SNRNP40	9410	Q96DI7	0.63
BRE	9577	Q9NXR7	0.63
RBM39	9584	Q14498	0.63
FEZ1	9638	Q99689	0.63
THRAP3	9967	Q9Y2W1	0.63
SF3A1	10291	Q15459	0.63
ANAPC10	10393	Q9UM13	0.63
RACK1	10399	P63244	0.63
MYL12A	10627	P19105	0.63
VAMP5	10791	O95183	0.63
CPSF4	10898	O95639	0.63
COPS5	10987	Q92905	0.63
IMMT	10989	Q16891	0.63
CPSF6	11052	Q16630	0.63
COPE	11316	O14579	0.63
PHB2	11331	Q99623	0.63
CBX3	11335	Q13185	0.63
EXOSC8	11340	Q96B26	0.63
POGZ	23126	Q7Z3K3	0.63
U2SURP	23350	O15042	0.63
EXOSC2	23404	Q13868	0.63
RAI14	26064	Q9P0K7	0.63
SERBP1	26135	Q8NC51	0.63
PHGDH	26227	O43175	0.63
BABAM1	29086	Q9NWV8	0.63
ANAPC2	29882	Q9UJX6	0.63
PYCR2	29920	Q96C36	0.63
SEC61A1	29927	P61619	0.63
ANAPC4	29945	Q9UJX5	0.63
PDZD11	51248	Q5EBL8	0.63
FZR1	51343	Q9UM11	0.63
CPSF3	51692	Q9UKF6	0.63
PELO	53918	Q9BRX2	0.63
CPSF2	53981	Q9P2I0	0.63
PAF1	54623	Q8N7H5	0.63
CHCHD3	54927	Q9NX63	0.63
CXorf57	55086	Q6NSI4	0.63
RMDN3	55177	Q96TC7	0.63
WDR33	55339	Q9C0J8	0.63
CDKN2AIP	55602	Q9NXV6	0.63
LYAR	55646	Q9NX58	0.63
DEPDC1B	55789	Q8WUY9	0.63
HDAC8	55869	Q9BY41	0.63
WDR18	57418	Q9BV38	0.63
MICAL3	57553	Q7RTP6	0.63
METTL17	64745	Q9H7H0	0.63
COA7	65260	Q96BR5	0.63
C2orf49	79074	Q9BVC5	0.63
BRCC3	79184	P46736	0.63
HMBOX1	79618	Q6NT76	0.63
ZNF768	79724	Q9H5H4	0.63
SLC25A22	79751	Q9H936	0.63
MYH14	79784	Q7Z406	0.63
LPCAT1	79888	Q8NF37	0.63
LAS1L	81887	Q9Y4W2	0.63
HDAC10	83933	Q969S8	0.63
FAM175A	84142	Q6UWZ7	0.63
RBM17	84991	Q96I25	0.63
ZNF251	90987	Q9BRH9	0.63
DTX2	113878	Q86UW9	0.63
OSBPL8	114882	Q9BZF1	0.63
ANAPC16	119504	Q96DE5	0.63
LSM12	124801	Q3MHD2	0.63
PGAM5	192111	Q96HS1	0.63
HNRNPUL2	221092	Q1KMD3	0.63
CHAMP1	283489	Q96JM3	0.63
LOC729324	729324	N/A	0.63
SMN1; SMN2	6606	Q16637	0.63
RAD51	5888	Q06609	0.68
XRCC5	7520	P13010	0.68
PRKDC	5591	P78527	0.70
AMFR	267	Q9UKV5	0.72
AUP1	550	Q9Y679	0.72
CLU	1191	P10909	0.72
FANCD2	2177	Q9BXW9	0.72
RPL29	6159	P47914	0.72
TP53	7157	P04637	0.73
SMC1A	8243	Q14683	0.73
ANAPC5	51433	Q9UJX4	0.73
ANAPC7	51434	Q9UJX3	0.73
CDC16	8881	Q13042	0.74
CDC27	996	P30260	0.79
ANAPC1	64682	Q9H1A4	0.79
CDC20	991	Q12834	0.80
MDM2	4193	Q00987	0.82
POLR2A	5430	P24928	0.82
TP53BP1	7158	Q12888	0.87
ATM	472	Q13315	0.88
BRCA1	672	P38398	0.88
RAD50	10111	Q92878	0.89
H2AFX	3014	P16104	0.90
MRE11A	4361	P49959	0.90
NBN	4683	O60934	0.90
LMNA	4000	P02545	0.49
SMARCA4	6597	P51532	0.49
SMARCC2	6601	Q8TAQ2	0.49
SMARCD1	6602	Q96GM5	0.49
CASP3	836	P42574	0.52
SRPK2	6733	P78362	0.52
SUMO1	7341	P63165	0.52
PIAS1	8554	O75925	0.52
PIAS4	51588	Q8N2W9	0.52
MCPH1	79648	Q8NEM0	0.52
BIRC5	332	O15392	0.63
ELAVL1	1994	Q15717	0.63
JUN	3725	P05412	0.63
PSMD4	5710	P55036	0.63
RAG1	5896	P15918	0.63
RPA1	6117	P27694	0.63
RPA2	6118	P15927	0.63
RPA3	6119	P35244	0.63
STAT1	6772	P42224	0.63
TFAP4	7023	Q01664	0.63
WHSC1	7468	O96028	0.63
EED	8726	O75530	0.63
BANF1	8815	O75531	0.63
AIM2	9447	O14862	0.63
CUL7	9820	Q14999	0.63
PAXIP1	22976	Q6ZW49	0.63
OBSL1	23363	O75147	0.63
HINFP	25988	Q9BQA5	0.63
SIRT7	51547	Q9NRC8	0.63
TERF2IP	54386	Q9NYB0	0.63
WRAP53	55135	Q9BUR4	0.63
PYHIN1	149628	Q6K0P9	0.63
BARD1	580	Q99728	0.65
RNF4	6047	P78317	0.65
USP28	57646	Q96RU2	0.65
EP300	2033	Q09472	0.67
CSNK2A1	1457	P68400	0.70
TOPBP1	11073	Q92547	0.78
CREBBP	1387	Q92793	0.81
SUMO2	6613	P61956	0.81
UIMC1	51720	Q96RL1	0.81
CHEK2	11200	O96017	0.88
RNF8	9025	O76064	0.90