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    BANF1 BAF nuclear assembly factor 1 [ Homo sapiens (human) ]

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

    Summary

    Official Symbol
    BANF1provided by HGNC
    Official Full Name
    BAF 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BANF1 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66002079..66004149)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65996213..65998283)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    Component Evidence Code Pubs
    part_of 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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001143985.1NP_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:186
      BAF; Barrier to autointegration factor
    2. NM_003860.4NP_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:186
      BAF; Barrier to autointegration factor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_017018515.3XP_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:186
      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_054370364.1XP_054226339.1  barrier-to-autointegration factor isoform X1

      UniProtKB/Swiss-Prot
      O60558, O75531, Q6FGG7