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0MDC1_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
DescriptionMediator of dna damage checkpoint protein 1 (nuclear factor with brct domains 1).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005515 protein binding (IPI)
Domain Architecture (Details)
InterPro domains unassigned to SynO:
The forkhead-associated (FHA) domain is a phosphopeptide recognition domain found in many regulatory proteins. It displays specificity for phosphothreonine-containing epitopes but will also recognise phosphotyrosine with relatively high affinity. It spans approximately 80-100 amino acid residues folded into an 11-stranded beta sandwich.hich sometimes contain small helical insertions between the loops connecting the strands . To date.enes encoding FHA-containing proteins have been identified in eubacterial and eukaryotic but not archaeal genomes. The domain is present in a diverse range of proteins.uch as kinases.hosphatases.inesins.ranscription factors.NA-binding proteins and metabolic enzymes which partake in many different cellular processes - DNA repair.ignal transduction.esicular transport and protein degradation are just a few examples.
The BRCT domain (after the C_terminal domain of a breast cancer susceptibility protein) is found predominantly in proteins involved in cell cycle checkpoint functions responsive to DNA damage .or example as found in the breast cancer DNA-repair protein BRCA1. The domain is an approximately 100 amino acid tandem repeat.hich appears to act as a phospho-protein binding domain .A chitin biosynthesis protein from yeast also seems to belong to this group.
FHA and SMAD (MH2) domains share a common structure consisting of a sandwich of eleven beta strands in two sheets with Greek key topology. Forkhead-associated (FHA) domains were originally identified as a sequence profile of about 75 amino acids.hereas the full-length domain is closer to about 150 amino acids. FHA domains are found in transcription factors.inesin motors.nd in a variety of other signalling molecules in organisms ranging from eubacteria to humans. FHA domains are protein-protein interaction domains that are specific for phosphoproteins. FHA-containing proteins function in maintaining cell-cycle checkpoints.NA repair and transcriptional regulation. FHA domain proteins include the Chk2/Rad53/Cds1 family of proteins that contain one or more FHA domains.s well as a Ser/Thr kinase domain . SMAD domain proteins are found in a range of species from nematodes to humans. These highly conserved proteins contain an N-terminal MH1 domain that contacts DNA.nd is separated by a short linker region from the C-terminal MH2 domain.he later showing a striking similarity to FHA domains. SMAD proteins mediate signalling by the TGF-beta/activin/BMP-2/4 cytokines from receptor Ser/Thr protein kinases at the cell surface to the nucleus. SMAD proteins fall into three functional classes: the receptor-regulated SMADs (R-SMADs).ncluding SMAD1.2.3.5.nd -8.ach of which is involved in a ligand-specific signalling pathway ; the comediator SMADs (co-SMADs).ncluding SMAD4.hich interact with R-SMADs to participate in signalling ; and the inhibitory SMADs (I-SMADs).ncluding SMAD6 and -7.hich block the activation of R-SMADs and Co-SMADs.hereby negatively regulating signalling pathways . The SSF signature in this entry is currently under review. Please be aware that some of the protein hits may be false positives.
SequencesProtein: MDC1_HUMAN (2089 aa)
mRNA: NM_014641
Local Annotation
Synapse Ontology
transport of vesicles in the presynaptic neuron
sdb:0017 Mobilization: synapsins, CAM kinase I  (Evidence:keywords)
KO assignmentNot mapped to KEGG
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 276 residues, 30775563-30776388Exon2: 39 residues, 30778308-30778419Exon3: 44 residues, 30778507-30778633Exon4: 63 residues, 30778859-30779042Exon5: 42 residues, 30779173-30779293Exon6: 828 residues, 30779376-30781854Exon7: 25 residues, 30783139-30783210Exon8: 266 residues, 30783321-30784113Exon9: 33 residues, 30787167-30787260Exon10: 22 residues, 30787422-30787482Exon11: 495 residues, 30787629-30789110Exon12: 25 residues, 30789403-30789473Exon13: 129 residues, 30789558-30789939Exon14: 48 residues, 30790795-30790934Exon15: 2 residues, -Jump to MDC1_HUMANLoci index, Chromosomal location, Length, Possible relational loci clusterExon1: 276 residues, 2116160-2116985Exon2: 39 residues, 2118906-2119017Exon3: 44 residues, 2119105-2119231Exon4: 63 residues, 2119457-2119640Exon5: 42 residues, 2119771-2119891Exon6: 828 residues, 2119974-2122452Exon7: 25 residues, 2123736-2123807Exon8: 266 residues, 2123918-2124710Exon9: 33 residues, 2127764-2127857Exon10: 22 residues, 2128019-2128079Exon11: 495 residues, 2128226-2129707Exon12: 25 residues, 2130000-2130070Exon13: 129 residues, 2130155-2130536Exon14: 48 residues, 2131392-2131531Exon15: 2 residues, -Jump to MDC1_HUMANLoci index, Chromosomal location, Length, Possible relational loci clusterExon1: 276 residues, 1914463-1915288Exon2: 39 residues, 1917209-1917320Exon3: 44 residues, 1917408-1917534Exon4: 63 residues, 1917760-1917943Exon5: 42 residues, 1918074-1918194Exon6: 828 residues, 1918277-1920755Exon7: 25 residues, 1922038-1922109Exon8: 266 residues, 1922220-1923012Exon9: 33 residues, 1926066-1926159Exon10: 22 residues, 1926321-1926381Exon11: 495 residues, 1926528-1928009Exon12: 25 residues, 1928302-1928372Exon13: 129 residues, 1928457-1928838Exon14: 48 residues, 1929694-1929833Exon15: 2 residues, -Jump to MDC1_HUMAN  
Loci Cluster (Details)Loci: 3524 30403018-30419484 ~-16K 30623(+)Loci: 4778 30775563-30790934 ~-15K 30651(MDC1)(-)Loci: 3525 30796135-30801172 ~-5K 30654(TUBB2)(+)Loci: 3526 30960305-30975910 ~-16K 30660(DDR1)(+)Loci: 4779 31240107-31246432 ~-6K 30683(POU5F1)(-)Loci: 3527 31651328-31654089 ~-3K 30704(TNF)(+)Loci: 3528 31696575-31713516 ~-17K 30718(BAT2)(+)Loci: 4780 31762714-31779067 ~-16K 30732(BAT5)(-)Loci: 4781 31806338-31812320 ~-6K 30744(CLIC1)(-)Loci: 4782 31934931-31938662 ~-4K 30760(NEU1)(-)Loci: 4783 32027843-32034843 ~-7K 30774(RDBP)(-)Loci: 4784 32116910-32185131 ~-68K 30791(TNXB)(-)Loci: 4785 32191022-32204008 ~-13K 30793(CREBL1)(-)Loci: 4786 32270598-32299822 ~-29K 30822(NOTCH4)(-)Loci: 4777 30229242-30236690 ~-7K 30617(TRIM10)(-)Link out to UCSC  
Loci: 3568 1080116-1095456 ~-15K 32266(MOG)(+)Loci: 4846 1569907-1577353 ~-7K 32295(TRIM10)(-)Loci: 3569 1743552-1760022 ~-16K 32299(+)Loci: 4847 2116160-2131531 ~-15K 32327(MDC1)(-)Loci: 3570 2136731-2141768 ~-5K 32330(TUBB2)(+)Loci: 3571 2300931-2316538 ~-16K 32336(DDR1)(+)Loci: 4848 2583391-2589717 ~-6K 32358(POU5F1)(-)Loci: 3572 2942907-2944177 ~-1K 32370(MCCD1)(+)Loci: 3573 2989472-2992233 ~-3K 32379(TNF)(+)Loci: 3574 3034720-3051660 ~-17K 32394(BAT2)(+)Loci: 4849 3100861-3117213 ~-16K 32408(BAT5)(-)Loci: 4850 3144482-3150469 ~-6K 32420(CLIC1)(-)Loci: 4851 3273206-3276937 ~-4K 32436(NEU1)(-)Loci: 4852 3366127-3373127 ~-7K 32450(RDBP)(-)Loci: 4853 3416089-3484322 ~-68K 32465(TNXB)(-)Loci: 4854 3490215-3503197 ~-13K 32467(CREBL1)(-)Loci: 4855 3569805-3599027 ~-29K 32497(NOTCH4)(-)Loci: 4845 1025321-1056177 ~-31K 32256(GABBR1)(-)Link out to UCSC  
Loci: 3576 882132-897414 ~-15K 32584(MOG)(+)Loci: 4860 1368158-1375605 ~-7K 32610(TRIM10)(-)Loci: 3577 1541880-1558353 ~-16K 32616(+)Loci: 4861 1914463-1929833 ~-15K 32644(MDC1)(-)Loci: 3578 1935034-1940072 ~-5K 32647(TUBB2)(+)Loci: 3579 2099260-2114867 ~-16K 32653(DDR1)(+)Loci: 4862 2381927-2388269 ~-6K 32673(POU5F1)(-)Loci: 3580 2744366-2745636 ~-1K 32685(MCCD1)(+)Loci: 3581 2790934-2793697 ~-3K 32694(TNF)(+)Loci: 3582 2836184-2853121 ~-17K 32708(BAT2)(+)Loci: 4863 2902325-2918686 ~-16K 32722(BAT5)(-)Loci: 4864 2945936-2951926 ~-6K 32734(CLIC1)(-)Loci: 4865 3074690-3078421 ~-4K 32743(NEU1)(-)Loci: 4866 3167604-3174600 ~-7K 32757(RDBP)(-)Loci: 4867 3377585-3406812 ~-29K 32798(NOTCH4)(-)Loci: 4859 827283-858139 ~-31K 32580(GABBR1)(-)Link out to UCSC