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BANF1 barrier to autointegration nuclear assembly factor 1 [ Homo sapiens (human) ]

Gene ID: 8815, updated on 3-Nov-2024

Summary

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Official Symbol
BANF1provided by HGNC
Official Full Name
barrier to autointegration nuclear assembly factor 1provided by HGNC
Primary source
HGNC:HGNC:17397
See related
Ensembl:ENSG00000175334 MIM:603811; AllianceGenome:HGNC:17397
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BAF; NGPS; BCRP1; D14S1460
Summary
The protein encoded by this gene was first identified by its ability to protect retroviruses from intramolecular integration and therefore promote intermolecular integration into the host cell genome. The protein forms a homodimer which localizes to both the nucleus and cytoplasm and is specifically associated with chromosomes during mitosis. This protein binds to double stranded DNA in a non-specific manner and also binds to LEM-domain containing proteins of the nuclear envelope. This protein is thought to facilitate nuclear reassembly by binding with both DNA and inner nuclear membrane proteins and thereby recruit chromatin to the nuclear periphery. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Jan 2009]
Expression
Ubiquitous expression in endometrium (RPKM 38.4), ovary (RPKM 38.3) and 25 other tissues See more
Orthologs
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Genomic context

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See BANF1 in Genome Data Viewer
Location:
11q13.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66002079..66004149)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65996213..65998283)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65769550..65771620)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:65729063-65729850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65733572-65734072 Neighboring gene spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP Neighboring gene phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65767725-65768224 Neighboring gene eukaryotic translation initiation factor 1A domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65770703-65771509 Neighboring gene Sharpr-MPRA regulatory region 5067 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65775781-65776575 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65780961-65781536 Neighboring gene cystatin E/M Neighboring gene cation channel sperm associated 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65790121-65790622

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The Barrier to Autointegration Factor: Interlocking Antiviral Defense with Genome Maintenance. Wiebe MS, et al. J Virol, 2016 Apr. PMID 26842478, Free PMC Article
  2. Structural basis of DNA bridging by barrier-to-autointegration factor. Umland TC, et al. Biochemistry, 2000 Aug 8. PMID 10924106
  3. Both the structure and DNA binding function of the barrier-to-autointegration factor contribute to reconstitution of HIV type 1 integration in vitro. Harris D, et al. J Biol Chem, 2000 Dec 15. PMID 11005805
  4. Molecular characterization of the host defense activity of the barrier to autointegration factor against vaccinia virus. Ibrahim N, et al. J Virol, 2011 Nov. PMID 21880762, Free PMC Article
  5. Néstor-Guillermo Progeria Syndrome: a biochemical insight into Barrier-to-Autointegration Factor 1, alanine 12 threonine mutation. Paquet N, et al. BMC Mol Biol, 2014 Dec 12. PMID 25495845, Free PMC Article

See all (189) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of BANF1 as a novel prognostic biomarker in gastric cancer and validation via in-vitro and in-vivo experiments.
    Title: Identification of BANF1 as a novel prognostic biomarker in gastric cancer and validation via in-vitro and in-vivo experiments.
  2. PYCR1, BANF1, and STARD8 Expression in Gastric Carcinoma: A Clinicopathologic, Prognostic, and Immunohistochemical Study.
    Title: PYCR1, BANF1, and STARD8 Expression in Gastric Carcinoma: A Clinicopathologic, Prognostic, and Immunohistochemical Study.
  3. RNA polymerase II promoter-proximal pausing promotes BAF chromatin binding and remodeling.
    Title: RNA polymerase II promoter-proximal pausing promotes BAF chromatin binding and remodeling.
  4. Hepatitis B Virus X Protein Inhibits the Expression of Barrier To Autointegration factor1 via Upregulating miR-203 Expression in Hepatic Cells.
    Title: Hepatitis B Virus X Protein Inhibits the Expression of Barrier To Autointegration factor1 via Upregulating miR-203 Expression in Hepatic Cells.
  5. Barrier-to-autointegration factor 1 promotes gammaherpesvirus reactivation from latency.
    Title: Barrier-to-autointegration factor 1 promotes gammaherpesvirus reactivation from latency.
  6. The BAF A12T mutation disrupts lamin A/C interaction, impairing robust repair of nuclear envelope ruptures in Nestor-Guillermo progeria syndrome cells.
    Title: The BAF A12T mutation disrupts lamin A/C interaction, impairing robust repair of nuclear envelope ruptures in Nestor-Guillermo progeria syndrome cells.
  7. An additional case of Nestor-Guillermo progeria syndrome diagnosed in early childhood.
    Title: An additional case of Néstor-Guillermo progeria syndrome diagnosed in early childhood.
  8. BAF facilitates interphase nuclear membrane repair through recruitment of nuclear transmembrane proteins.
    Title: BAF facilitates interphase nuclear membrane repair through recruitment of nuclear transmembrane proteins.
  9. DNA unchained: two assays to discover and study inhibitors of the DNA clustering function of barrier-to-autointegration factor.
    Title: DNA unchained: two assays to discover and study inhibitors of the DNA clustering function of barrier-to-autointegration factor.
  10. BAF restricts cGAS on nuclear DNA to prevent innate immune activation.
    Title: BAF restricts cGAS on nuclear DNA to prevent innate immune activation.
Submit: New GeneRIF Correction See all GeneRIFs (57)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Nestor-Guillermo progeria syndrome
MedGen: C3151446 OMIM: 614008 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag Barrier-to-autointegration factor binds directly to HIV-1 Gag and is a host component of HIV-1 virions PubMed
integrase gag-pol Barrier-to-autointegration factor (BAF) is required for the association of viral cDNA with emerin and for chromatin engagement by viral cDNA before integration, indicating potential interactions between BAF, emerin and HIV-1 integrase PubMed
gag-pol The barrier-to-autointegration factor (BAF) is a component of HIV-1 preintegration complexes that functions as an integration cofactor that protects retroviral DNA from autointegration PubMed
matrix gag BANF1 and HIV-1 MA can simultaneously bind to very short DNAs such as a 16 mer duplex oligonucleotide) PubMed
gag Barrier-to-autointegration factor binds directly to HIV-1 Matrix and is hypothesized to contribute to the assembly or activity of HIV-1 pre-integration complexes through its interaction with Matrix PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC111161

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA integration IEA
Inferred from Electronic Annotation
more info
  
involved_in chromatin organization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in chromosome organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitotic nuclear membrane reassembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of cGAS/STING signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of innate immune response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of protein ADP-ribosylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of type I interferon production IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of viral genome replication IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to oxidative stress IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to virus TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in chromatin IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in condensed chromosome IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in condensed chromosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nuclear envelope IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus HDA PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
barrier-to-autointegration factor
Names
BAF nuclear assembly factor 1
barrier to autointegration factor 1
breakpoint cluster region protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031874.1 RefSeqGene

    Range
    5425..7071
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001143985.1 → NP_001137457.1  barrier-to-autointegration factor

    See identical proteins and their annotated locations for NP_001137457.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AF068235, BC008705, BG748852, BU940708
    Consensus CDS
    CCDS8125.1
    UniProtKB/Swiss-Prot
    O60558, O75531, Q6FGG7
    UniProtKB/TrEMBL
    B2R4V4
    Related
    ENSP00000416128.2, ENST00000445560.6
    Conserved Domains (1) summary
    pfam02961
    Location:1 → 86
    BAF; Barrier to autointegration factor

  2. NM_003860.4 → NP_003851.1  barrier-to-autointegration factor

    See identical proteins and their annotated locations for NP_003851.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AP006287, BC005942, BC008705
    Consensus CDS
    CCDS8125.1
    UniProtKB/Swiss-Prot
    O60558, O75531, Q6FGG7
    UniProtKB/TrEMBL
    B2R4V4
    Related
    ENSP00000310275.2, ENST00000312175.7
    Conserved Domains (1) summary
    pfam02961
    Location:1 → 86
    BAF; Barrier to autointegration factor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    66002079..66004149
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018515.3 → XP_016874004.1  barrier-to-autointegration factor isoform X1

    UniProtKB/Swiss-Prot
    O60558, O75531, Q6FGG7
    UniProtKB/TrEMBL
    B2R4V4
    Related
    ENSP00000433760.1, ENST00000533166.5
    Conserved Domains (1) summary
    pfam02961
    Location:1 → 86
    BAF; Barrier to autointegration factor

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    65996213..65998283
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370364.1 → XP_054226339.1  barrier-to-autointegration factor isoform X1

    UniProtKB/Swiss-Prot
    O60558, O75531, Q6FGG7
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75531.1 GenPept UniProtKB/Swiss-Prot:O75531

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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