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BANF1 Gene

protein-coding   GIFtS: 60
GCID: GC11P065769

Barrier To Autointegration Factor 1

  See BANF1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Barrier To Autointegration Factor 11 2     BCRP12
BAF2 3 5     D14S14602
Breakpoint Cluster Region Protein 12 3     Barrier-To-Autointegration Factor2
NGPS2 5     BCRG13

External Ids:    HGNC: 173971   Entrez Gene: 88152   Ensembl: ENSG000001753347   OMIM: 6038115   UniProtKB: O755313   
ORGUL members:         

Export aliases for BANF1 gene to outside databases

Previous GC identifers: GC11P067450 GC11P066019 GC11P065544 GC11P065526 GC11P062095


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 familial partial lipodystrophy. An important paralog of this gene is BANF2.

UniProtKB/Swiss-Prot: BAF_HUMAN, O75531
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 Wiki entry for BANF1 (Barrier to autointegration factor 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BANF1 gene promoter:
         NF-1   NF-1/L   NF-kappaB   Roaz   RORalpha1   HSF2   NF-kappaB2   STAT3   c-Myb   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBANF1 promoter sequence
   Search Chromatin IP Primers for BANF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BANF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13.1   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13.1

BANF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BANF1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P065769:  view genomic region     (about GC identifiers)

Start:
65,769,550 bp from pter      End:
65,771,620 bp from pter
Size:
2,071 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: BAF_HUMAN, O75531 (See protein sequence)
Recommended Name: Barrier-to-autointegration factor  
Size: 89 amino acids; 10059 Da
Subunit: 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
Sequence caution: Sequence=AAC08964.1; Type=Frameshift; Positions=87;
Selected PDB 3D structures from and Proteopedia for BANF1 (see all 7):
1CI4 (3D)        1QCK (3D)        2BZF (3D)        2EZX (3D)        2EZY (3D)        2EZZ (3D)    
Secondary accessions: O60558 Q6FGG7

Explore the universe of human proteins at neXtProt for BANF1: NX_O75531

Explore proteomics data for BANF1 at MOPED

Post-translational modifications: 

  • 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 reassembly1
  • Ubiquitination2 at Lys32
  • Modification sites at PhosphoSitePlus

  • See BANF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001137457.1  NP_003851.1  

    ENSEMBL proteins: 
     ENSP00000310275   ENSP00000416128   ENSP00000431785   ENSP00000433760   ENSP00000432867  
    Reactome Protein details: O75531

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR004122 BAF_prot

    Graphical View of Domain Structure for InterPro Entry O75531

    ProtoNet protein and cluster: O75531

    1 Blocks protein domain: IPB004122 Barrier to autointegration factor

    UniProtKB/Swiss-Prot: BAF_HUMAN, O75531
    Domain: Has a helix-hairpin-helix (HhH) structural motif conserved among proteins that bind non-specifically to
    DNA
    Domain: LEM domain proteins bind centrally on the BAF dimer, whereas DNA binds to the left and right sides
    Similarity: Belongs to the BAF family


    Find genes that share domains with BANF1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BAF_HUMAN, O75531
    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): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with BANF1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for BANF1:
     G0/1 arrest  Increased G1 DNA content 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidBANF1 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BAF_HUMAN, O75531: 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: 

    CompartmentConfidence
    nucleus5
    cytosol4
    extracellular2
    lysosome2
    vacuole2
    cytoskeleton1
    endosome1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005694chromosome IEA--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with BANF1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BANF1 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1HIV Life Cycle
    HIV Life Cycle0.91
    APOBEC3G mediated resistance to HIV-1 infection0.00
    HIV Infection0.62
    Integration of provirus0.00
    Host Interactions of HIV factors0.60
    2-LTR circle formation0.00
    Early Phase of HIV Life Cycle0.00
    2Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    3Regulation of Glucokinase by Glucokinase Regulatory Protein
    Vpr-mediated nuclear import of PICs0.91
    Nuclear Envelope Breakdown0.77
    Interactions of Vpr with host cellular proteins0.91
    4Nuclear Envelope Reassembly
    Nuclear Envelope Reassembly
    Initiation of Nuclear Envelope Reformation0.00
    Clearance of Nuclear Envelope Membranes from Chromatin0.00
    5Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93


    Find genes that share SuperPaths with BANF1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    Selected Reactome Pathways for BANF1 (see all 8)
        APOBEC3G mediated resistance to HIV-1 infection
    Initiation of Nuclear Envelope Reformation
    Clearance of Nuclear Envelope Membranes from Chromatin
    2-LTR circle formation
    Integration of viral DNA into host genomic DNA


        Pathway & Disease-focused RT2 Profiler PCR Array including BANF1: 
              HIV Host Response in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BANF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BANF1 (O755313 ENSP000003102754) via UniProtKB, MINT, STRING, and/or I2D (see all 123)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000232804P081073, ENSP000003930874I2D: score=1 STRING: ENSP00000393087
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0007077mitotic nuclear envelope disassembly TAS--
    GO:0007084mitotic nuclear envelope reassembly TAS--
    GO:0009615response to virus TAS9465049
    GO:0015074DNA integration IEA--

    Find genes that share ontologies with BANF1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BANF1 (BAF)

    1 Novoseek inferred chemical compound relationship for BANF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bafilomycin a1 70 14 7642700 (7), 17638544 (2), 10951226 (1)



    Find genes that share compounds with BANF1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BANF1 gene (2 alternative transcripts): 
    NM_001143985.1  NM_003860.3  

    Unigene Cluster for BANF1:

    Barrier to autointegration factor 1
    Hs.433759  [show with all ESTs]
    Unigene Representative Sequence: BM474651
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000312175(uc001ogo.3 uc001ogp.3) ENST00000445560 ENST00000530204
    ENST00000524663 ENST00000524628 ENST00000533166 ENST00000527348 ENST00000528648

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    hsa-miR-320a hsa-miR-203 hsa-miR-320b hsa-miR-4252 hsa-miR-320d hsa-miR-181a-2*
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    Additional mRNA sequence: 

    AF044773.1 AF068235.1 AF070447.1 AK311961.1 BC005942.1 BC008705.1 BC107702.1 CR542140.1 

    17 DOTS entries:

    DT.449005  DT.95135076  DT.95366550  DT.120962331  DT.91772050  DT.95211261  DT.100806424  DT.120729757 
    DT.100880501  DT.100880503  DT.120729756  DT.100880499  DT.120729766  DT.95209324  DT.95366646  DT.120729768 
    DT.95366591 

    Selected AceView cDNA sequences (see all 467):

    AW406459 AV660803 CK819864 AA910979 BQ893554 BF768932 AA400061 BQ002672 
    AA884769 BQ027425 CB139223 CD675061 F37941 AI192338 AI753821 BM704569 
    CD688567 CB140772 BQ052922 BQ054044 BF771934 AI186228 CF129231 AW161592 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for BANF1    About this scheme

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


    ECgene alternative splicing isoforms for BANF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BANF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTCCCCCGT
    BANF1 Expression
    About this image


    BANF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    BANF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BANF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.433759

    UniProtKB/Swiss-Prot: BAF_HUMAN, O75531
    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

        Pathway & Disease-focused RT2 Profiler PCR Array including BANF1: 
              HIV Host Response in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BANF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for BANF1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Banf11 , 5 barrier to autointegration factor 11, 5 92.88(n)1
    96.63(a)1
      19 (4.31 cM)5
    238251  NM_001038231.21  NP_001033320.11 
     53646415 
    lizard
    (Anolis carolinensis)
    Reptilia BANF16
    barrier to autointegration factor 1
    93(a)
    1 ↔ 1
    GL344077.1(2205-2327)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.231492 Xenopus laevis transcribed sequence with moderate similarity more 76.45(n)    48036749 
    zebrafish
    (Danio rerio)
    Actinopterygii banf11 barrier to autointegration factor 1 75.76(n)
    82.95(a)
      334717  NM_205562.1  NP_991125.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta baf1 barrier to autointegration factor 64.37(n)
    64.37(a)
      34095  NM_135332.4  NP_609176.1 
    worm
    (Caenorhabditis elegans)
    Secernentea baf-11 baf-1 58.8(n)
    59.55(a)
      176330  NM_066684.5  NP_499085.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BANF1 gene
    BANF22  
    1 SIMAP similar gene for BANF1 using alignment to 2 protein entries:     BAF_HUMAN (see all proteins):
    BANF2

    Find genes that share paralogs with BANF1           About GenesLikeMe


    5 Pseudogenes.org Pseudogenes for BANF1
    PGOHUM00000238655 PGOHUM00000248215 PGOHUM00000244343 PGOHUM00000240547 PGOHUM00000232957


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BANF1 (see all 125)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0659544
    Nestor-Guillermo progeria syndrome (NGPS)4--see VAR_0659542 A T mis40--------
    rs1827873851,2
    C--65687627(+) TTGGAA/GGGCAT 2 -- us2k10--------
    rs354973701,2
    C,F--65687647(+) GAAGCG/ACTGCC 2 -- us2k14Minor allele frequency- A:0.00NA WA 4750
    rs1409189981,2
    C--65687786(+) CCAGGA/GGCCCT 2 -- us2k10--------
    rs178499191,2
    C,F--65687863(+) CTGGTC/TGGAGG 2 -- us2k14Minor allele frequency- T:0.00NA EU 5127
    rs1497737781,2
    C,F--65687921(+) GTGGCC/TTGAGA 2 -- us2k11Minor allele frequency- T:0.00NA 4520
    rs2011505831,2
    --65687922(+) TGGCCC/TGAGAC 2 -- us2k10--------
    rs1457353891,2
    C--65687955(+) GTTAGA/GAACGA 2 -- us2k10--------
    rs1864856051,2
    C--65687958(+) AGGAAA/C/TGAAGA 2 -- us2k10--------
    rs2009424461,2
    C--65687970(+) ACTGTC/GAACTC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for BANF1 (65769550 - 65771620 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for BANF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1186n71CNV Loss21882294
    nsv832191CNV Loss17160897

    Human Gene Mutation Database (HGMD): BANF1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BANF1
    DNA2.0 Custom Variant and Variant Library Synthesis for BANF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603811   
    OMIM disorders: 614008  
    UniProtKB/Swiss-Prot: BAF_HUMAN, O75531
  • 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 6 diseases for BANF1:    
    About MalaCards
    nestor-guillermo progeria syndrome    familial partial lipodystrophy    mandibuloacral dysplasia    progeria
    vaccinia    collagenous colitis

    2 diseases from the University of Copenhagen DISEASES database for BANF1:
    Emery-Dreifuss muscular dystrophy     Progeria

    Find genes that share disorders with BANF1           About GenesLikeMe

    2 Novoseek inferred disease relationships for BANF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    immunodeficiency 30.2 3 14645565 (1), 12663813 (1), 16203725 (1)
    leukemia 0 2 14645565 (1), 17035312 (1)


    Export disorders for BANF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for BANF1 gene, integrated from 10 sources (see all 89):
    (articles sorted by number of sources associating them with BANF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A previously unidentified host protein protects retroviral DNA from autointegration. (PubMed id 9465049)1, 2, 3 Lee M.S. and Craigie R. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    2. Barrier-to-autointegration factor BAF binds p55 Gag and matrix and is a host component of human immunodeficiency virus type 1 virions. (PubMed id 14645565)1, 2, 9 Mansharamani M.... Wilson K.L. (J. Virol. 2003)
    3. Barrier-to-autointegration factor-like (BAF-L): a proposed regulator of BAF. (PubMed id 16337940)1, 2, 9 Tifft K.E.... Wilson K.L. (Exp. Cell Res. 2006)
    4. Barrier-to-autointegration factor: major roles in chromatin decondensation and nuclear assembly. (PubMed id 12163470)1, 2, 9 Segura-Totten M.... Wilson K.L. (J. Cell Biol. 2002)
    5. Binding of barrier to autointegration factor (BAF) to histone H3 and selected linker histones including H1.1. (PubMed id 16203725)1, 2, 9 de Oca R.M.... Wilson K.L. (J. Biol. Chem. 2005)
    6. Barrier-to-autointegration factor phosphorylation on Ser-4 regulates emerin binding to lamin A in vitro and emerin localization in vivo. (PubMed id 16371512)1, 2, 9 Bengtsson L. and Wilson K.L. (Mol. Biol. Cell 2006)
    7. Structural basis of DNA bridging by barrier-to-autointegration factor. (PubMed id 10924106)1, 2, 9 Umland T.C.... Davies D.R. (Biochemistry 2000)
    8. Both the structure and DNA binding function of the barrier-to- autointegration factor contribute to reconstitution of HIV type 1 integration in vitro. (PubMed id 11005805)1, 2, 9 Harris D. and Engelman A. (J. Biol. Chem. 2000)
    9. BAF: roles in chromatin, nuclear structure and retrovirus integration. (PubMed id 15130582)1, 2, 9 Segura-Totten M. and Wilson K.L. (Trends Cell Biol. 2004)
    10. BAF is required for emerin assembly into the reforming nuclear envelope. (PubMed id 11792822)1, 2, 9 Haraguchi T.... Hiraoka Y. (J. Cell Sci. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8815 HGNC: 17397 AceView: BANF1 Ensembl:ENSG00000175334 euGenes: HUgn8815
    ECgene: BANF1 H-InvDB: BANF1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for BANF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for BANF1 gene:
    Search GeneIP for patents involving BANF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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