FANCB
| FANCB | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process |
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| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr X: 14.69 – 14.87 Mb | Chr X: 163.76 – 163.78 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Fanconi anemia group B protein is a protein that in humans is encoded by the FANCB gene.[5][6][7]
Function
The Fanconi anemia complementation group (FANC) currently includes
Gene
FANCB is the only gene known to cause
Mutation in the FANCB are highly associated with the development of the VACTERL-H constilation of birth defects.[10] In a cohort study of 19 children with FANCB variants, those with deletion of FANCB gene or truncation of FANCB protein demonstrate earlier-than-average onset of bone marrow failure and more severe congenital abnormalities compared with a large series of Fanconi Anemia individuals in published reports. This reflects the indispensable role of FANCB gene in cells. For FANCB missense variants, more variable severity is associated with the extent of residual activity. [11]
Protein
The FANCB gene product is FANCB protein. FANCB is a component of a "core complex" of nine Fanconi Anemia proteins: FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, FAAP100 and FAAP20. The core complex localises to DNA damage sites during DNA replication where it catalyzes transfer of ubiquitin to FANCD2 and FANCI.[12] In particular, this reaction is necessary for the repair of DNA interstrand crosslinks, such as those formed by chemotherapy drugs cisplatin, mitomycin c and melphalan.[13]
Within the Fanconi anemia core complex, FANCB has an obligate interaction with FAAP100 and FANCL, to form a catalytic E3 RING ligase enzyme. FANCB creates a dimer interface within this subcomplex that is required for simultaneous ubiquitination of FANCD2 and FANCI.[14] Electron microscopy imaging of the FANCB-FANCL-FAAP100 complex revealed a symmetry that is centred on FANCB, and biochemical investigation confirmed that the entire complex is a dimer containing two of each subunit.[15] Further imaging reveals the overall architecture of the Fanconi Anemia core complex centres on FANCB protein.[15]
Meiosis
FANCB mutant mice are
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000181544 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000047757 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 9382107.
- PMID 15502827.
- ^ a b "Entrez Gene: FANCB Fanconi anemia, complementation group B".
- PMID 15502827.
- PMID 25594185.
- PMID 31351673.
- PMID 32106311.
- PMID 24773018.
- S2CID 1712640.
- PMID 27986371.
- ^ PMID 27986592.
- ^ PMID 26123487.
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External links
| Other forms of repair |
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| Other/ungrouped proteins | ||
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