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FLASH GENE
Symbol BANF1 contributors: mct - updated : 28-09-2018
HGNC name barrier to autointegration factor 1
HGNC id 17397
Corresponding disease
PRO2 progeroid syndrome, BANF1 related
Location 11q13.1      Physical location : 65.769.549 - 65.771.616
Synonym name DNA segment, single copy, with homology to a C elegans protein
Synonym symbol(s) BAF, BCRP1, D14S1460E, NGPS
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
text localized in the uterine leiomyoma cluster regional chromosome 14
STRUCTURE 2.07 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Physical map
RELA 11q13 v-rel reticuloendotheliosis viral oncogene homolog A, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3, p65 (avian) SIPA1 11q13.3 signal-induced proliferation-associated gene 1 LOC387782 11 LOC387782 HTATIP 11q13 HIV-1 Tat interactive protein, 60kDa AYP1 11q13.1 AYP1 protein LOC390211 11 similar to Keratin, type II cytoskeletal 8 (Cytokeratin 8) (K8) (CK 8) LOC91056 11q13.1 hypothetical protein BC004895 OVOL1 11q13 ovo-like 1(Drosophila) FLJ30934 11q13.1 hypothetical protein FLJ30934 CFL1 11q13 cofilin 1 (non-muscle) MUS81 11q13 MUS81 endonuclease homolog (yeast) EFEMP2 11q13 EGF-containing fibulin-like extracellular matrix protein 2 CTSW 11q13.1 cathepsin W (lymphopain) FIBP 11q13.1 fibroblast growth factor (acidic) intracellular binding protein DIPA 11q12.1 hepatitis delta antigen-interacting protein A FOSL1 11q13 FOS-like antigen 1 P5326 11q13.1 hypothetical protein p5326 DRAP1 11q13.3 DR1-associated protein 1 (negative cofactor 2 alpha) FLJ32880 11q13.1 hypothetical protein FLJ32880 SART1 11q12-q13 squamous cell carcinoma antigen recognised by T cells MGC11102 11q13.1 hypothetical protein MGC11102 BANF1 11q13.1 barrier to autointegration factor 1 CST6 11q13.2 cystatin E/M CATSPER1 11q12.1 cation channel, sperm associated 1 GAL3ST2 11q13 cation channel, sperm associated 1 SF3B2 11cen-q23 splicing factor 3b, subunit 2, 145kDa PACS1 11q13.1 phosphofurin acidic cluster sorting protein 1 KLC2 11q13.1 phosphofurin acidic cluster sorting protein 1 RAB1B 11q12 RAB1B, member RAS oncogene family MGC50896 11q13.1 hypothetical protein MGC50896 YIF1 11q13 Yip1 interacting factor homolog (S. cerevisiae) MGC33486 11q13.1 hypothetical protein MGC33486
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 1179 - 89 - 2000 10924106
3 - 1122 - 89 - 2000 10924106
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    
Reproductivefemale systemuterus   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularsmooth   
Muscularstriatumcardiac  
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer homomer , heteromer , dimer
HOMOLOGY
interspecies homolog to C.elegans protein (genbank 465711)
homolog to murine Bcrp1
Homologene
FAMILY BAF family
CATEGORY DNA associated
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,vault
intracellular,cytoplasm,cytosolic
intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
intracellular,nucleus,nucleoplasm
intracellular,nucleus,chromatin/chromosome
intracellular,nuclear envelope,lamina
text
  • accumulation of progerin, a truncated form of farnesylated and carboxymethylated prelamin A identified in Hutchinson-Gilford progeria syndrome cells, induces BANF1 recruitment in the nucleus
  • essential component of the nuclear lamina
  • nuclear periphery proteins LMNA, TMPO and BANF1 relocate to the spindle and the cell cortex in mitosis
  • presence of the EMD fraction which associates with mitotic spindle microtubules and centrosomes during mitosis and colocalizes during early mitosis with LMNA, BANF1, and membranes at the mitotic spindle
  • basic FUNCTION
  • protect retroviral DNA from autointegration
  • required for the integrity of the nuclear lamina and normal progression of S phase in human cells
  • BANF1 and emerin have dynamic roles in genome integrity and might help couple DNA damage responses to the nuclear lamina network
  • DNA-binding protein that interacts directly with histones, lamins and LEM-domain proteins and has roles in chromatin structure, mitosis and gene regulation
  • could mediate prelamin A-induced chromatin effects
  • required to maintain the self-renewal of both mouse and human embryonic stem cells
  • prelamin A involvement in BANF1 nuclear recruitment, suggesting BANF1-prelamin A complex as a protein platform usually activated in prelamin A-accumulating diseases
  • is an essential player of nuclear reformation at the end of mitosis
  • essential component of the nuclear lamina
  • possible roles of BANF1 in regulation of keratinocyte differentiation and proliferation
  • new role for BANF1: remodeling intracellular membranes upon detection of double-stranded DNA (dsDNA) in mammalian cells
  • abundant, highly conserved DNA binding protein
  • LMNA, TMPO and BANF1 are assembled into a protein complex during mitosis in order to regulate assembly and positioning of the mitotic spindle
  • is involved in multiple pathways including mitosis, nuclear assembly, viral infection, chromatin and gene regulation and the DNA damage response
  • contributes to multiple aspects of genome maintenance and intercepts retrovirus, poxvirus, and herpesvirus genomes during infection
  • CELLULAR PROCESS nucleotide, chromatin organization, remodeling
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component homodimer soluble anf heterododecamer DNA binding
    INTERACTION
    DNA binding in non specific manner
    RNA
    small molecule
    protein
  • lamina-associated polypeptide 2
  • assembled first at the distinct core' region of the telophase chromosome and formed an immobile complex by directly binding with other core-localizing nuclear envelope proteins, such as lamin A and emerin (
  • ANKLE2 is required for BANF1 dephosphorylation
  • VRK1 is the major kinase responsible for phosphorylation of BANF1
  • BANF1 interaction with LMNA plays an essential role, and mutations associated with progeroid syndromes leads to a dysregulation of BANF1-mediated chromatin organization and gene expression
  • LMNA domain both directly binds self-assembled EMD and interacts with monomeric EMD LEM domain through the dimeric BANF1 protein
  • TMEM201 binds EMD, which in turn binds to the chromatin protein barrier-to-autointergration factor (BANF1)
  • through its N-terminal LAP2-emerin-MAN1 (LEM)-domain, EMD interacts with the DNA-binding protein barrier-to-autointegration BANF1
  • cell & other
    REGULATION
    Phosphorylated by VRK3 that phosphorylates the nuclear envelope protein barrier-to-autointegration factor (BANF1) on Ser4
    ASSOCIATED DISORDERS
    corresponding disease(s) PRO2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS