MDC1 report

I. Expression across cell types

Insufficient scRNA-seq data for expression of MDC1 at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of MDC1 at tissue level.

III. Associated gene sets

GO_0006325Biological processchromatin organization
GO_1990166Biological processprotein localization to site of double-strand break
GO_0006974Biological processDNA damage response
GO_0031573Biological processmitotic intra-S DNA damage checkpoint signaling
GO_0060261Biological processpositive regulation of transcription initiation by RNA polymerase II
GO_0006281Biological processDNA repair
GO_0000076Biological processDNA replication checkpoint signaling
GO_0005694Cellular componentchromosome
GO_0016604Cellular componentnuclear body
GO_0005654Cellular componentnucleoplasm
GO_0035861Cellular componentsite of double-strand break
GO_0005925Cellular componentfocal adhesion
GO_0005634Cellular componentnucleus
GO_0140566Molecular functionhistone reader activity
GO_0140463Molecular functionchromatin-protein adaptor activity
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameMDC1
Protein nameMediator of DNA damage checkpoint 1 variant 1
Mediator of DNA damage checkpoint 1 (Mediator of DNA damage checkpoint protein 1)
Mediator of DNA damage checkpoint 1 (EC 6.3.2.11)
Mediator of DNA damage checkpoint protein 1
Mediator of DNA damage checkpoint protein 1 (Nuclear factor with BRCT domains 1)
Mediator of DNA damage checkpoint 1 variant 3
Mediator of DNA damage checkpoint 1 variant 4
Alternative protein MDC1
Mediator of DNA damage checkpoint 1
Mediator of DNA damage checkpoint 1 variant 2
SynonymsKIAA0170
NFBD1
DescriptionFUNCTION: 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 . Specifically recognizes and binds histone H2AX phosphorylated at 'Ser-139', a marker of DNA damage, serving as a scaffold for the recruitment of DNA repair and signal transduction proteins to discrete foci of DNA damage sites . Also required for downstream events subsequent to the recruitment of these proteins . These include phosphorylation and activation of the ATM, CHEK1 and CHEK2 kinases, and stabilization of TP53/p53 and apoptosis . ATM and CHEK2 may also be activated independently by a parallel pathway mediated by TP53BP1 . Required for chromosomal stability during mitosis by promoting recruitment of TOPBP1 to DNA double strand breaks (DSBs): TOPBP1 forms filamentous assemblies that bridge MDC1 and tether broken chromosomes during mitosis . .

AccessionsENST00000376406.8 [Q14676-1]
ENST00000441397.5
ENST00000422266.1
ENST00000424638.5
A0A291LM07
ENST00000425790.1
ENST00000422195.5
ENST00000552474.2
ENST00000383566.8
ENST00000547353.2
ENST00000423726.5
A2AB07
ENST00000425029.5
ENST00000417033.1
ENST00000547681.2
L8E828
A1Z5I7
H0Y6Z8
ENST00000450033.5
ENST00000546539.2
ENST00000417228.5
ENST00000444412.1
ENST00000431441.5
ENST00000424437.5
ENST00000447640.5
ENST00000424507.5
ENST00000445764.5
ENST00000432998.5
A2AB05
A0A087X0R2
ENST00000430358.5
ENST00000416368.5
ENST00000435664.6
ENST00000447192.1
ENST00000437759.5
ENST00000445130.1
A1Z5I9
ENST00000416571.5
ENST00000420019.6 [Q14676-1]
ENST00000413973.5
ENST00000419675.1
ENST00000550500.2
Q14676
ENST00000552522.2
ENST00000419172.1
ENST00000427406.6 [Q14676-1]
ENST00000455729.5
ENST00000425072.5
ENST00000420320.6 [Q14676-1]
ENST00000438165.5
ENST00000412395.5
ENST00000550688.2
ENST00000449153.6 [Q14676-1]
A0A291LM21
A2AB06
ENST00000448895.1
A1Z5I6
ENST00000456589.5
ENST00000440369.6 [Q14676-1]
A1Z5I8