Barrier to autointegration factor 1

Barrier to autointegration factor 1

PDB rendering based on 1ci4.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols BANF1 ; BAF; BCRP1; D14S1460; NGPS
External IDs OMIM: 603811 MGI: 1346330 HomoloGene: 2866 GeneCards: BANF1 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 8815 23825
Ensembl ENSG00000175334 ENSMUSG00000024844
UniProt O75531 O54962
RefSeq (mRNA) NM_001143985 NM_001038231
RefSeq (protein) NP_001137457 NP_001033320
Location (UCSC) Chr 11:
66 – 66 Mb
Chr 19:
5.36 – 5.37 Mb
PubMed search

Barrier-to-autointegration factor is a protein that in humans is encoded by the BANF1 gene.[1][2] It is a member of the barrier-to-autointegration factor family of proteins.

Function

The protein encoded by this gene was identified by its ability to protect retroviruses from intramolecular integration and therefore promote intermolecular integration into the host cell genome. The endogenous function of the protein is unknown. The protein forms a homodimer which localizes to the nucleus and is specifically associated with chromosomes during mitosis. This protein binds to DNA in a non-specific manner and studies in rodents suggest that it also binds to lamina-associated polypeptide 2, a component of the nuclear lamina.[2] It also associates with the LEM Domain containing proteins LAP2, Emerin, and MAN1.

Interactions

Barrier to autointegration factor 1 has been shown to interact with Thymopoietin.[3]

Clinical relevance

Mutations in this gene have been shown to cause hereditary progeroid syndrome.[4]

See also

References

  1. Lee MS, Craigie R (Mar 1998). "A previously unidentified host protein protects retroviral DNA from autointegration". Proc Natl Acad Sci U S A 95 (4): 1528–33. doi:10.1073/pnas.95.4.1528. PMC 19075. PMID 9465049.
  2. 1 2 "Entrez Gene: BANF1 barrier to autointegration factor 1".
  3. Furukawa K (August 1999). "LAP2 binding protein 1 (L2BP1/BAF) is a candidate mediator of LAP2-chromatin interaction". J. Cell. Sci. 112 ( Pt 15): 2485–92. PMID 10393804.
  4. Puente XS, Quesada V, Osorio FG, Cabanillas R, Cadiñanos J, Fraile JM, Ordóñez GR, Puente DA, Gutiérrez-Fernández A, Fanjul-Fernández M, Lévy N, Freije JM, López-Otín C (May 2011). "Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome". Am. J. Hum. Genet. 88 (5): 650–6. doi:10.1016/j.ajhg.2011.04.010. PMC 3146734. PMID 21549337.

Further reading

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