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Aliases for BANF1 Gene

Aliases for BANF1 Gene

  • Barrier To Autointegration Factor 1 2 3 5
  • Breakpoint Cluster Region Protein 1 3 4
  • BAF 3 4
  • Barrier-To-Autointegration Factor 3
  • 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 Progeria. Among its related pathways are Transport of the SLBP independent Mature mRNA and Nuclear Envelope Reassembly. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BANF1 Gene

Genomics for BANF1 Gene

Regulatory Elements for BANF1 Gene

Enhancers for BANF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G065886 1.9 FANTOM5 ENCODE dbSUPER 12.3 -106.6 -106621 18.4 CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 SNX32 CTSW MUS81 EIF1AD ENSG00000254461 KAT5 ZFPL1 RBM4B EFEMP2 ENSG00000258297
GH11G066078 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +79.7 79731 7.5 HDGF PKNOX1 FOXA2 AGO1 SIN3A YBX1 FEZF1 ZNF121 GATA2 CBX5 EIF1AD ENSG00000255320 SF3B2 SIPA1 RBM14 PACS1 ENSG00000258297 ZFPL1 PCNX3 KAT5
GH11G066135 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +135.1 135091 2.4 HDGF PKNOX1 FOXA2 ATF1 WRNIP1 ARID4B GLIS2 CBX5 ZNF143 ZNF207 ENSG00000255038 PACS1 KLC2 ENSG00000254461 ENSG00000255320 SF3B2 CST6 EIF1AD BANF1 TMEM151A
GH11G065927 1.6 FANTOM5 Ensembl ENCODE 11.2 -73.8 -73835 2.4 HDGF FOXA2 TCF12 ZNF766 ZNF143 ZNF592 ZNF579 NFIL3 CREB3 SMARCA4 EIF1AD CST6 FIBP CCDC85B CTSW SART1 FOSL1 CFL1 MUS81 BANF1
GH11G066111 1.7 Ensembl ENCODE dbSUPER 10.3 +114.1 114087 10.3 HNRNPUL1 HDGF PKNOX1 FOXA2 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 EIF1AD RBM14 ENSG00000255320 ENSG00000258297 SF3B2 ENSG00000255038 PACS1 LOC105369352 RBM4B KLC2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BANF1 on UCSC Golden Path with GeneCards custom track

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

Genes around BANF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BANF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:16337940, PubMed:22399800). Heterodimerizes with BAFL (PubMed:16337940). Interacts with ANKLE2/LEM4, leading to decreased phosphorylation by VRK1 and promoting dephosphorylation by protein phosphatase 2A (PP2A) (PubMed:22770216). 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) (PubMed:11792822, PubMed:15681850). Interacts with ANKLE1 (via LEM domain); the interaction may favor BANF1 dimerization (PubMed:22399800). Interacts with CRX and LMNA (lamin-A). Binds linker histone H1.1 and core histones H3 (PubMed:16203725). Interacts with HIV-1 pre-integration complex in cytoplasm by binding to viral matrix protein and Gag polyprotein (PubMed:12663813, PubMed:14645565).
    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

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 Lys32
  • Modification sites at PhosphoSitePlus

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 12163176
GO:0008022 protein C-terminus binding IMP 22399800
GO:0019899 enzyme binding IPI 22399800
GO:0042803 protein homodimerization activity IPI 22399800
genes like me logo Genes that share ontologies with BANF1: view
genes like me logo Genes that share phenotypes with BANF1: view

Human Phenotype Ontology for BANF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BANF1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
lysosome 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
golgi apparatus 1
endosome 1

Gene Ontology (GO) - Cellular Components for BANF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000793 condensed chromosome IEA --
GO:0005634 nucleus IDA,IEA 18005698
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IDA,IEA 18005698
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

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: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 --
GO:0016032 viral process 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
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:

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for BANF1 Gene

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



Protein tissue co-expression partners for BANF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of BANF1 Gene:

BANF1

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.

Evidence on tissue expression from TISSUES for BANF1 Gene

  • Nervous system(4.7)
  • Intestine(3.3)
  • Muscle(3.3)
  • Lung(3.1)
  • Heart(2.6)
  • Kidney(2.5)
  • Liver(2.5)
  • Blood(2.2)
  • Adrenal gland(2.1)
  • Bone marrow(2.1)
  • Skin(2.1)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BANF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with BANF1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia BANF1 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia BANF1 34 35
  • 95.51 (n)
cow
(Bos Taurus)
Mammalia BANF1 34 35
  • 93.63 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 93 (a)
OneToMany
-- 35
  • 88 (a)
OneToMany
-- 35
  • 85 (a)
OneToMany
-- 35
  • 58 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Banf1 34 16 35
  • 92.88 (n)
rat
(Rattus norvegicus)
Mammalia Banf1 34
  • 92.13 (n)
lizard
(Anolis carolinensis)
Reptilia BANF1 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia banf1 34
  • 75.38 (n)
Str.6576 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.23149 34
zebrafish
(Danio rerio)
Actinopterygii banf1 34 35
  • 75.76 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.309 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008753 34
  • 67.42 (n)
fruit fly
(Drosophila melanogaster)
Insecta baf 34 35
  • 64.37 (n)
worm
(Caenorhabditis elegans)
Secernentea baf-1 34
  • 58.8 (n)
Species where no ortholog for BANF1 was found in the sources mined by GeneCards:
  • 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
rs387906871 Pathogenic, Nestor-Guillermo progeria syndrome (NGPS) [MIM:614008] 66,003,284(+) TCGTG(A/G)CAGAG upstream-variant-2KB, reference, missense
rs78790365 Likely benign 66,002,276(+) AGGAA(G/T)TCCTC upstream-variant-2KB, utr-variant-5-prime
rs117774800 Uncertain significance 66,002,122(+) TGCGA(C/T)GTGAG upstream-variant-2KB, utr-variant-5-prime
rs141605220 Uncertain significance 66,002,233(+) GTCAA(A/G)CCTAA upstream-variant-2KB, utr-variant-5-prime
rs142270527 Uncertain significance 66,004,045(+) ACCCC(C/G)ACCCT upstream-variant-2KB, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv832191 CNV loss 17160897
nsv975942 CNV duplication 23825009

Variation tolerance for BANF1 Gene

Residual Variation Intolerance Score: 50.7% 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

Human Gene Mutation Database (HGMD)
BANF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
progeria
  • hutchinson-gilford progeria syndrome
vaccinia
hiv-1
  • aids, slow progression to
mandibuloacral dysplasia
  • mandibuloacral dysplasia with type a lipodystrophy
- elite association - COSMIC cancer census association via MalaCards
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. Barrier-to-autointegration factor-like (BAF-L): a proposed regulator of BAF. (PMID: 16337940) Tifft K.E. … Wilson K.L. (Exp. Cell Res. 2006) 3 4 22 64
  2. Barrier-to-autointegration factor phosphorylation on Ser-4 regulates emerin binding to lamin A in vitro and emerin localization in vivo. (PMID: 16371512) Bengtsson L. … Wilson K.L. (Mol. Biol. Cell 2006) 3 4 22 64
  3. The inner-nuclear-envelope protein emerin regulates HIV-1 infectivity. (PMID: 16680152) Jacque J.-M. … Stevenson M. (Nature 2006) 3 4 22 64
  4. Direct binding of nuclear membrane protein MAN1 to emerin in vitro and two modes of binding to barrier-to-autointegration factor. (PMID: 15681850) Mansharamani M. … Wilson K.L. (J. Biol. Chem. 2005) 3 4 22 64
  5. Binding of barrier to autointegration factor (BAF) to histone H3 and selected linker histones including H1.1. (PMID: 16203725) de Oca R.M. … Wilson K.L. (J. Biol. Chem. 2005) 3 4 22 64

Products for BANF1 Gene

Sources for BANF1 Gene

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