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Aliases for BANF1 Gene

Aliases for BANF1 Gene

  • Barrier To Autointegration Factor 1 2 3
  • Breakpoint Cluster Region Protein 1 3 4
  • BAF 3 4
  • D14S1460 3
  • BCRP1 3
  • BCRG1 4
  • NGPS 3

External Ids for BANF1 Gene

Previous GeneCards Identifiers for BANF1 Gene

  • GC11P067450
  • GC11P065544
  • GC11P065526
  • GC11P065769
  • GC11P062095

Summaries for BANF1 Gene

Entrez Gene Summary for BANF1 Gene

  • 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]

GeneCards Summary for BANF1 Gene

BANF1 (Barrier To Autointegration Factor 1) is a Protein Coding gene. Diseases associated with BANF1 include nestor-guillermo progeria syndrome and pericholangitis. Among its related pathways are Infectious disease and Cell Cycle, Mitotic. An important paralog of this gene is BANF2.

UniProtKB/Swiss-Prot for BANF1 Gene

  • Plays fundamental roles in nuclear assembly, chromatin organization, gene expression and gonad development. May potently compress chromatin structure and be involved in membrane recruitment and chromatin decondensation during nuclear assembly. Contains 2 non-specific dsDNA-binding sites which may promote DNA cross-bridging. Exploited by retroviruses for inhibiting self-destructing autointegration of retroviral DNA, thereby promoting integration of viral DNA into the host chromosome. EMD and BAF are cooperative cofactors of HIV-1 infection. Association of EMD with the viral DNA requires the presence of BAF and viral integrase. The association of viral DNA with chromatin requires the presence of BAF and EMD.

Gene Wiki entry for BANF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BANF1 Gene

Genomics for BANF1 Gene

Regulatory Elements for BANF1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for BANF1 Gene

Chromosome:
11
Start:
66,002,079 bp from pter
End:
66,004,149 bp from pter
Size:
2,071 bases
Orientation:
Plus strand

Genomic View for BANF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BANF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BANF1 Gene

Proteins for BANF1 Gene

  • Protein details for BANF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75531-BAF_HUMAN
    Recommended name:
    Barrier-to-autointegration factor
    Protein Accession:
    O75531
    Secondary Accessions:
    • O60558
    • Q6FGG7

    Protein attributes for BANF1 Gene

    Size:
    89 amino acids
    Molecular mass:
    10059 Da
    Quaternary structure:
    • Homodimer. Heterodimerizes with BAFL. Interacts with ANKLE2/LEM4, leading to decreased phosphorylation by VRK1 and promoting dephosphorylation by protein phosphatase 2A (PP2A). Binds non-specifically to double-stranded DNA, and is found as a hexamer or dodecamer upon DNA binding. Binds to LEM domain-containing nuclear proteins such as LEMD3/MAN1, TMPO/LAP2 and EMD (emerin). Interacts with CRX and LMNA (lamin-A). Binds linker histone H1.1 and core histones H3 with in vitro affinities of 500-900 and 100-200 nM. Interacts with HIV-1 pre-integration complex in cytoplasm by binding to viral matrix protein and Gag polyprotein.
    SequenceCaution:
    • Sequence=AAC08964.1; Type=Frameshift; Positions=87; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BANF1 Gene

neXtProt entry for BANF1 Gene

Proteomics data for BANF1 Gene at MOPED

Post-translational modifications for BANF1 Gene

  • Ser-4 is the major site of phosphorylation as compared to Thr-2 and Thr-3. Phosphorylation on Thr-2; Thr-3 and Ser-4 disrupts its ability to bind DNA and reduces its ability to bind LEM domain-containing proteins. Non phosphorylated BAF seems to enhance binding between EMD and LMNA. Dephosphorylated by protein phosphatase 2A (PP2A) following interaction with ANKLE2/LEM4 during mitotic exit, leading to mitotic nuclear envelope reassembly.
  • Ubiquitination at Lys 32
  • Modification sites at PhosphoSitePlus

Other Protein References for BANF1 Gene

Antibody Products

No data available for DME Specific Peptides for BANF1 Gene

Domains & Families for BANF1 Gene

Protein Domains for BANF1 Gene

Suggested Antigen Peptide Sequences for BANF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75531

UniProtKB/Swiss-Prot:

BAF_HUMAN :
  • Has a helix-hairpin-helix (HhH) structural motif conserved among proteins that bind non-specifically to DNA
  • Belongs to the BAF family.
Domain:
  • Has a helix-hairpin-helix (HhH) structural motif conserved among proteins that bind non-specifically to DNA
  • LEM domain proteins bind centrally on the BAF dimer, whereas DNA binds to the left and right sides
Family:
  • Belongs to the BAF family.
genes like me logo Genes that share domains with BANF1: view

No data available for Gene Families for BANF1 Gene

Function for BANF1 Gene

Molecular function for BANF1 Gene

UniProtKB/Swiss-Prot Function:
Plays fundamental roles in nuclear assembly, chromatin organization, gene expression and gonad development. May potently compress chromatin structure and be involved in membrane recruitment and chromatin decondensation during nuclear assembly. Contains 2 non-specific dsDNA-binding sites which may promote DNA cross-bridging. Exploited by retroviruses for inhibiting self-destructing autointegration of retroviral DNA, thereby promoting integration of viral DNA into the host chromosome. EMD and BAF are cooperative cofactors of HIV-1 infection. Association of EMD with the viral DNA requires the presence of BAF and viral integrase. The association of viral DNA with chromatin requires the presence of BAF and EMD.

Gene Ontology (GO) - Molecular Function for BANF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 22770216
genes like me logo Genes that share ontologies with BANF1: view
genes like me logo Genes that share phenotypes with BANF1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BANF1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BANF1 Gene

Localization for BANF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BANF1 Gene

Nucleus. Cytoplasm. Chromosome. Note=Significantly enriched at the nuclear inner membrane, diffusely throughout the nucleus during interphase and concentrated at the chromosomes during the M-phase. May be included in HIV-1 virions via its interaction with viral GAG polyprotein. The phosphorylated form (by VRK1) shows a cytoplasmic localization.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BANF1 Gene COMPARTMENTS Subcellular localization image for BANF1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 4
lysosome 2
vacuole 2
cytoskeleton 1
endosome 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for BANF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IDA 22194607
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with BANF1: view

Pathways & Interactions for BANF1 Gene

genes like me logo Genes that share pathways with BANF1: view

Pathways by source for BANF1 Gene

23 Reactome pathways for BANF1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • HIV Host Response in human,mouse,rat

SIGNOR curated interactions for BANF1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for BANF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS --
GO:0007077 mitotic nuclear envelope disassembly TAS --
GO:0007084 mitotic nuclear envelope reassembly TAS --
GO:0009615 response to virus TAS 9465049
GO:0015074 DNA integration IEA --
genes like me logo Genes that share ontologies with BANF1: view

Drugs & Compounds for BANF1 Gene

(1) Drugs for BANF1 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bafilomycin A1 Experimental Pharma H+-ATPase (vacuolar) inhibitor 0
genes like me logo Genes that share compounds with BANF1: view

Transcripts for BANF1 Gene

Unigene Clusters for BANF1 Gene

Barrier to autointegration factor 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BANF1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BANF1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d
SP1: - - -
SP2: - -
SP3: -
SP4:

Relevant External Links for BANF1 Gene

GeneLoc Exon Structure for
BANF1
ECgene alternative splicing isoforms for
BANF1

Expression for BANF1 Gene

mRNA expression in normal human tissues for BANF1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for BANF1 Gene



SOURCE GeneReport for Unigene cluster for BANF1 Gene Hs.433759

mRNA Expression by UniProt/SwissProt for BANF1 Gene

O75531-BAF_HUMAN
Tissue specificity: Widely expressed. Expressed in colon, brain, heart, kidney, liver, lung, ovary, pancreas, placenta, prostate, skeletal muscle, small intestine, spleen and testis. Not detected in thymus and peripheral blood leukocytes
genes like me logo Genes that share expression patterns with BANF1: view

Protein tissue co-expression partners for BANF1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein differential expression in normal tissues for BANF1 Gene

Orthologs for BANF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BANF1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BANF1 35
  • 93.63 (n)
  • 100 (a)
BANF1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BANF1 35
  • 95.51 (n)
  • 100 (a)
BANF1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Banf1 35
  • 92.88 (n)
  • 96.63 (a)
Banf1 16
Banf1 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BANF1 35
  • 100 (n)
  • 100 (a)
BANF1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Banf1 35
  • 92.13 (n)
  • 96.63 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 85 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia BANF1 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia banf1 35
  • 75.38 (n)
  • 86.36 (a)
Str.6576 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.23149 35
zebrafish
(Danio rerio)
Actinopterygii banf1 35
  • 75.76 (n)
  • 82.95 (a)
banf1 36
  • 81 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.309 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008753 35
  • 67.42 (n)
  • 71.59 (a)
fruit fly
(Drosophila melanogaster)
Insecta baf 35
  • 64.37 (n)
  • 64.37 (a)
baf 36
  • 61 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea baf-1 35
  • 58.8 (n)
  • 59.55 (a)
Species with no ortholog for BANF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BANF1 Gene

ENSEMBL:
Gene Tree for BANF1 (if available)
TreeFam:
Gene Tree for BANF1 (if available)

Paralogs for BANF1 Gene

Paralogs for BANF1 Gene

(1) SIMAP similar genes for BANF1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with BANF1: view

Variants for BANF1 Gene

Sequence variations from dbSNP and Humsavar for BANF1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs522553 -- 66,004,198(+) CTCCT(C/T)CAGGG downstream-variant-500B
rs619701 -- 66,004,609(-) GTACT(C/T)CCCTC downstream-variant-500B
rs72930974 -- 66,004,442(+) CAGTG(G/T)GAGTC downstream-variant-500B
rs111347959 -- 66,004,594(+) CAGCT(A/G)GAAGG downstream-variant-500B
rs185542523 -- 66,004,196(+) CTCTC(C/T)TTCAG downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for BANF1 Gene

Variant ID Type Subtype PubMed ID
nsv832191 CNV Loss 17160897
dgv1186n71 CNV Loss 21882294

Variation tolerance for BANF1 Gene

Residual Variation Intolerance Score: 50.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.04; 0.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BANF1 Gene

HapMap Linkage Disequilibrium report
BANF1
Human Gene Mutation Database (HGMD)
BANF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BANF1 Gene

Disorders for BANF1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for BANF1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nestor-guillermo progeria syndrome
  • ngps
pericholangitis
progeria
  • hutchinson-gilford progeria syndrome
anthracosis
  • coal workers' lung
restrictive dermopathy
  • hyperkeratosis-contracture syndrome
- elite association
Search BANF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BAF_HUMAN
  • Nestor-Guillermo progeria syndrome (NGPS) [MIM:614008]: An atypical progeroid syndrome characterized by normal development in the first years of life, later followed by the emergence of generalized lipoatrophy, severe osteoporosis, and marked osteolysis. The atrophic facial subcutaneous fat pad and the marked osteolysis of the maxilla and mandible result in a typical pseudosenile facial appearance with micrognathia, prominent subcutaneous venous patterning, a convex nasal ridge, and proptosis. Cognitive development is completely normal. Patients do not have cardiovascular dysfunction, atherosclerosis, or metabolic anomalies. {ECO:0000269 PubMed:21549337}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BANF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BANF1
genes like me logo Genes that share disorders with BANF1: view

No data available for Genatlas for BANF1 Gene

Publications for BANF1 Gene

  1. Cell cycle-dependent phosphorylation of MAN1. (PMID: 19166343) Hirano Y. … Takeyasu K. (Biochemistry 2009) 23 67
  2. Barrier-to-autointegration factor proteome reveals chromatin-regulatory partners. (PMID: 19759913) Montes de Oca R. … Wilson K.L. (PLoS ONE 2009) 23 67
  3. Barrier-to-autointegration factor (BAF) condenses DNA by looping. (PMID: 19805345) Skoko D. … Mizuuchi K. (Proc. Natl. Acad. Sci. U.S.A. 2009) 23 67
  4. Live cell imaging and electron microscopy reveal dynamic processes of BAF-directed nuclear envelope assembly. (PMID: 18628300) Haraguchi T. … Hiraoka Y. (J. Cell. Sci. 2008) 23 67
  5. Tissue-specific defects are caused by loss of the Drosophila MAN1 LEM domain protein. (PMID: 18723885) Pinto B.S. … Geyer P.K. (Genetics 2008) 23 67

Products for BANF1 Gene

Sources for BANF1 Gene

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