Family

Fanconi anemia-associated protein of 24kDa (IPR026985)

Short name: FAAP24

Overlapping homologous superfamilies

None.

Family relationships

None.

Description

Fanconi anemia-associated protein of 24kDa (FAAP24) plays a role in DNA repair through recruitment of the FA core complex to damaged DNA. It regulates FANCD2 monoubiquitination upon DNA damage. When repressed, it induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents. It targets FANCM/FAAP24 complex to the DNA, preferentially to single strand DNA [PMID: 17289582].

Fanconi anemia (FA) is a human disorder characterized by cancer susceptibility and cellular sensitivity to DNA crosslinks and other damages. The FA complex repairs the interstrand cross-linking (ICL) lesions and coordinates activities of the downstream DNA repair pathway including nucleotide excision repair, translesion synthesis, and homologous recombination. It is required for the monoubiquitylation of FANCD2 and FANCI heterodimer. The FA core complex consists of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, FANCM, FANCT (UBET2), FAAP100 and FAAP24 [PMID: 29017571, PMID: 20347428].

GO terms

Biological Process

GO:0036297 interstrand cross-link repair

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0043240 Fanconi anaemia nuclear complex

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER