This gene encodes a conserved protein that is involved in the repair of DNA interstrand cross-links. DNA cross-links suppress transcription, replication, and DNA segregation. The encoded protein is a regulator of the mitotic cell cycle checkpoint. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Function:
May be required for DNA interstrand cross-link repair. Also required for checkpoint mediated cell cycle arrest in early prophase in response to mitotic spindle poisons.
Subunit:
Binds constitutively to TP53BP1. Binds CDC27, which is itself a component of the anaphase promoting complex (APC). Binds PIAS1.
Subcellular Location:
Nuclear.
Tissue Specificity:
Expressed in brain, heart, kidney, liver, pancreas, placenta and skeletal muscle.
DISEASE:
In some cells it may be found in typically 1 or 2 discrete nuclear aggregates of unknown function which also contain TP53BP1. Also found in multiple discrete nuclear foci which increase in number following treatment with ionizing radiation or interstrand cross-linking agents. These foci overlap with those formed by the MRN complex (composed of MRE11A, RAD50 and NBN) and BRCA1.
Similarity:
Belongs to the DNA repair metallo-beta-lactamase (DRMBL) family.
SWISS:
Q6PJP8
Gene ID:
9937
Database links:
Entrez Gene: 9937 Human
Omim: 609682 Human
SwissProt: Q6PJP8 Human
Unigene: 1560 Human
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