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

Gene ID: 8815, updated on 7-Jun-2020

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
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

Genomic context

See BANF1 in Genome Data Viewer
Location:
11q13.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (66002079..66004149)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65769550..65771617)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes 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 eukaryotic translation initiation factor 1A domain containing Neighboring gene cystatin E/M Neighboring gene cation channel sperm associated 1

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

NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA 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

Homology

Clone Names

  • MGC111161

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
LEM domain binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein C-terminus binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
chromosome condensation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromosome segregation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment of integrated proviral latency TAS
Traceable Author Statement
more info
 
mitotic nuclear envelope reassembly TAS
Traceable Author Statement
more info
 
negative regulation of viral genome replication IDA
Inferred from Direct Assay
more info
PubMed 
nuclear transport TAS
Traceable Author Statement
more info
 
response to virus TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
chromosome IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nuclear envelope IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus HDA PubMed 
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)

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
    O75531
    UniProtKB/TrEMBL
    A0A024R5H0
    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
    O75531
    UniProtKB/TrEMBL
    A0A024R5H0
    Related
    ENSP00000310275.2, ENST00000312175.7
    Conserved Domains (1) summary
    pfam02961
    Location:186
    BAF; Barrier to autointegration factor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017018514.1XP_016874003.1  barrier-to-autointegration factor isoform X1

    UniProtKB/Swiss-Prot
    O75531
    UniProtKB/TrEMBL
    A0A024R5H0
    Related
    ENSP00000433760.1, ENST00000533166.5
    Conserved Domains (1) summary
    pfam02961
    Location:186
    BAF; Barrier to autointegration factor
  2. XM_017018515.2XP_016874004.1  barrier-to-autointegration factor isoform X1

    UniProtKB/Swiss-Prot
    O75531
    UniProtKB/TrEMBL
    A0A024R5H0
    Conserved Domains (1) summary
    pfam02961
    Location:186
    BAF; Barrier to autointegration factor
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