Barrier to autointegration factor 1

BANF1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1QCK, 2ODG, 1CI4, 2BZF, 2EZY, 2EZZ, 2EZX
Identifiers
Aliases	BANF1 , BAF, BCRP1, D14S1460, NGPS, Barrier to autointegration factor 1, BAF nuclear assembly factor 1
External IDs	OMIM: 603811 MGI: 1346330 HomoloGene: 2866 GeneCards: BANF1
Gene location (Human)
Chr.	Chromosome 11 (human)
End	66,004,149 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	5,417,196 bp
RNA expression pattern
	Top expressed in
	ganglionic eminence; ; right uterine tube; ; gastrocnemius muscle; ; ascending aorta; ; right coronary artery; ; Right adrenal gland; ; left uterine tube; ; canal of the cervix; ; left coronary artery; ; Left adrenal gland;
	Top expressed in
	somite; ; medial ganglionic eminence; ; maxillary prominence; ; thymus; ; hand; ; morula; ; atrium; ; abdominal wall; ; yolk sac; ; otic placode;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	DNA binding ; protein binding ; protein C-terminus binding ; enzyme binding ; protein homodimerization activity ; protein N-terminus binding ; LEM domain binding ; identical protein binding ;
Cellular component	cytoplasm ; extracellular exosome ; condensed chromosome ; nucleus ; chromosome ; nucleoplasm ; cytosol ; nuclear envelope ;
Biological process	mitotic nuclear membrane reassembly ; response to virus ; mitotic nuclear membrane disassembly ; DNA integration ; establishment of integrated proviral latency ; viral process ; nuclear transport ; negative regulation of viral genome replication ; chromosome segregation ; chromosome condensation ;
	Sources:Amigo / QuickGO
Orthologs
	8815
	23825
	ENSG00000175334
	ENSMUSG00000024844
	O75531
	O54962
	NM_003860 ; NM_001143985
	NM_001038231 ; NM_001286608 ; NM_011793
	NP_001137457 ; NP_003851
	NP_001033320 ; NP_001273537 ; NP_035923
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated October 14, 2022

Barrier-to-autointegration factor is a protein that in humans is encoded by the BANF1 gene.^[5]^[6] 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.^[6] It also associates with the LEM Domain containing proteins LAP2, Emerin, and MAN1. The protein's DNA binding ability is modulated by ATP concentration.^[7]

Interactions

Barrier to autointegration factor 1 has been shown to interact with Thymopoietin.^[8]

Clinical relevance

Mutations in this gene have been shown to cause hereditary progeroid syndrome.^[9]

Related Research Articles

In molecular biology, SWI/SNF, is a subfamily of ATP-dependent chromatin remodeling complexes, which is found in eukaryotes. In other words, it is a group of proteins that associate to remodel the way DNA is packaged. This complex is composed of several proteins – products of the SWI and SNF genes, as well as other polypeptides. It possesses a DNA-stimulated ATPase activity that can destabilize histone-DNA interactions in reconstituted nucleosomes in an ATP-dependent manner, though the exact nature of this structural change is unknown. The SWI/SNF subfamily provides crucial nucleosome rearrangement, which is seen as ejection and/or sliding. The movement of nucleosomes provides easier access to the chromatin, allowing genes to be activated or repressed.

Ran also known as GTP-binding nuclear protein Ran is a protein that in humans is encoded by the RAN gene. Ran is a small 25 kDa protein that is involved in transport into and out of the cell nucleus during interphase and also involved in mitosis. It is a member of the Ras superfamily.

Emerin is a protein that in humans is encoded by the EMD gene, also known as the STA gene. Emerin, together with LEMD3, is a LEM domain-containing integral protein of the inner nuclear membrane in vertebrates. Emerin is highly expressed in cardiac and skeletal muscle. In cardiac muscle, emerin localizes to adherens junctions within intercalated discs where it appears to function in mechanotransduction of cellular strain and in beta-catenin signaling. Mutations in emerin cause X-linked recessive Emery–Dreifuss muscular dystrophy, cardiac conduction abnormalities and dilated cardiomyopathy.

Lamina-associated polypeptide 2 (LAP2), isoforms beta/gamma is a protein that in humans is encoded by the TMPO gene. LAP2 is an inner nuclear membrane (INM) protein.

Transcriptional repressor CTCF also known as 11-zinc finger protein or CCCTC-binding factor is a transcription factor that in humans is encoded by the CTCF gene. CTCF is involved in many cellular processes, including transcriptional regulation, insulator activity, V(D)J recombination and regulation of chromatin architecture.

Sorting nexin-1 is a protein that in humans is encoded by the SNX1 gene. The protein encoded by this gene is a sorting nexin. SNX1 is a component of the retromer complex.

CDT1 is a protein that in humans is encoded by the CDT1 gene. It is a licensing factor that functions to limit DNA from replicating more than once per cell cycle.

Chromatin assembly factor 1 subunit A is a protein that in humans is encoded by the CHAF1A gene.

SWI/SNF complex subunit SMARCC2 is a protein that in humans is encoded by the SMARCC2 gene.

Periplakin is a protein that in humans is encoded by the PPL gene.

Nuclear factor 1 C-type is a protein that in humans is encoded by the NFIC gene.

Envoplakin is a protein that in humans is encoded by the EVPL gene.

Bcl-2-associated transcription factor 1 is a Bcl-2 family protein in humans that is encoded by the BCLAF1 gene.

Charged multivesicular body protein 5 is a protein that in humans is encoded by the CHMP5 gene.

Charged multivesicular body protein 6 is a protein that in humans is encoded by the CHMP6 gene.

Charged multivesicular body protein 2a is a protein that in humans is encoded by the CHMP2A gene.

It is a reference gene.

Cell division cycle-associated 7-like protein is a protein that in humans is encoded by the CDCA7L gene.

Charged multivesicular body protein 1b is a protein that in humans is encoded by the CHMP1B gene.

Myosin-Ib is a protein that in humans is encoded by the MYO1B gene.

In molecular biology, barrier-to-autointegration factor (BAF) is a family of essential proteins that is highly conserved in metazoan evolution, and which may act as DNA-bridging proteins. BAF binds directly to double-stranded DNA, to transcription activators, and to inner nuclear membrane proteins, including lamin A filaments that anchor nuclear pore complexes in place, and nuclear LEM-domain proteins that bind to laminin filaments and chromatin. New findings suggest that BAF has structural roles in nuclear assembly and chromatin organization, represses gene expression and might interlink chromatin structure, nuclear architecture and gene regulation in metazoans.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000175334 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024844 - 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.
↑ 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. Bibcode:1998PNAS...95.1528L. doi: 10.1073/pnas.95.4.1528 . PMC 19075 . PMID 9465049.
1 2 "Entrez Gene: BANF1 barrier to autointegration factor 1".
↑ Sridharan S, Kurzawa N, Werner T, Günthner I, Helm D, Huber W, Bantscheff M, Savitski MM (March 2019). "Proteome-wide solubility and thermal stability profiling reveals distinct regulatory roles for ATP". Nature Communications. 10 (1): 1155. Bibcode:2019NatCo..10.1155S. doi:10.1038/s41467-019-09107-y. PMC 6411743 . PMID 30858367.
↑ 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. doi:10.1242/jcs.112.15.2485. PMID 10393804.
↑ 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.

External links

Human BANF1 genome location and BANF1 gene details page in the UCSC Genome Browser .

This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000175334 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024844 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9465049-5] 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. Bibcode:1998PNAS...95.1528L. doi: 10.1073/pnas.95.4.1528 . PMC 19075 . PMID 9465049.

[entrez-6] 1 2 "Entrez Gene: BANF1 barrier to autointegration factor 1".

[7] Sridharan S, Kurzawa N, Werner T, Günthner I, Helm D, Huber W, Bantscheff M, Savitski MM (March 2019). "Proteome-wide solubility and thermal stability profiling reveals distinct regulatory roles for ATP". Nature Communications. 10 (1): 1155. Bibcode:2019NatCo..10.1155S. doi:10.1038/s41467-019-09107-y. PMC 6411743 . PMID 30858367.

[pmid10393804-8] 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. doi:10.1242/jcs.112.15.2485. PMID 10393804.

[pmid21549337-9] 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.

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