Barrier to autointegration factor 1

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BANF1
Protein BANF1 PDB 1ci4.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases BANF1, BAF, BCRP1, D14S1460, NGPS, Barrier to autointegration factor 1
External IDs MGI: 1346330 HomoloGene: 2866 GeneCards: BANF1
RNA expression pattern
PBB GE BANF1 210125 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003860
NM_001143985

NM_001038231
NM_001286608
NM_011793

RefSeq (protein)

NP_001137457
NP_003851

Location (UCSC) Chr 11: 66 – 66 Mb Chr 19: 5.36 – 5.37 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Barrier-to-autointegration factor is a protein that in humans is encoded by the BANF1 gene.[3][4] It is a member of the barrier-to-autointegration factor family of proteins.

Function[edit]

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.[4] It also associates with the LEM Domain containing proteins LAP2, Emerin, and MAN1.

Interactions[edit]

Barrier to autointegration factor 1 has been shown to interact with Thymopoietin.[5]

Clinical relevance[edit]

Mutations in this gene have been shown to cause hereditary progeroid syndrome.[6]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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 19075Freely accessible. PMID 9465049. 
  4. ^ a b "Entrez Gene: BANF1 barrier to autointegration factor 1". 
  5. ^ 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. 
  6. ^ 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 3146734Freely accessible. PMID 21549337. 

Further reading[edit]

External links[edit]