Gene Gene information from NCBI Gene database.
Entrez ID 8815
Gene name Barrier to autointegration nuclear assembly factor 1
Gene symbol BANF1
Synonyms (NCBI Gene)
BAFBCRP1D14S1460NGPS
Chromosome 11
Chromosome location 11q13.1
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
miRNA miRNA information provided by mirtarbase database.
243
miRTarBase ID miRNA Experiments Reference
MIRT815729 hsa-miR-1226 CLIP-seq
MIRT815730 hsa-miR-1255a CLIP-seq
MIRT815731 hsa-miR-1255b CLIP-seq
MIRT815732 hsa-miR-1289 CLIP-seq
MIRT815733 hsa-miR-150 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 31796734
GO:0000793 Component Condensed chromosome IBA
GO:0000793 Component Condensed chromosome IDA 28841419
GO:0000793 Component Condensed chromosome IEA
GO:0003677 Function DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603811 17397 ENSG00000175334
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75531
Protein name Barrier-to-autointegration factor (Breakpoint cluster region protein 1) [Cleaved into: Barrier-to-autointegration factor, N-terminally processed]
Protein function Non-specific DNA-binding protein that plays key roles in mitotic nuclear reassembly, chromatin organization, DNA damage response, gene expression and intrinsic immunity against foreign DNA (PubMed:10908652, PubMed:11792822, PubMed:12163470, PubM
PDB 1CI4 , 1QCK , 2BZF , 2EZX , 2EZY , 2EZZ , 2ODG , 6GHD , 6RPR , 6UNT , 6URE , 6URJ , 6URK , 6URL , 6URN , 6URR , 6URZ , 6US0 , 6US1 , 6US7 , 6USB , 6USD , 6USI , 7ABM , 7NDY , 7Z21 , 9J8M , 9J8N , 9J8O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02961 BAF 1 88 Barrier to autointegration factor Domain
Tissue specificity 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. {ECO:0000269|Pub
Sequence
Sequence length 89
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
28
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Nestor-Guillermo progeria syndrome Uncertain significance; Likely benign; Benign; no classifications from unflagged records rs886048511, rs373907315, rs117774800, rs78790365, rs781260209, rs1786171, rs886048514, rs150372514, rs148797275, rs142270527, rs886048513, rs886048515, rs886048516, rs144367403, rs886048519
View all (13 more)
RCV000306436
RCV000305201
RCV000357516
RCV000320141
RCV000372439
RCV000333092
RCV000389669
RCV000291630
RCV000343190
RCV000303532
RCV000266406
RCV000293232
RCV000384007
RCV000304578
RCV000394318
RCV000265206
RCV000261504
RCV000350471
RCV000363414
RCV000344282
RCV000402630
RCV000023343
RCV001107494
RCV001107492
RCV001103861
RCV001103862
RCV001103863
RCV001107493
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aging Premature Associate 33660778, 36980188
Blood Coagulation Disorders Inherited Associate 21549337
Breast Neoplasms Stimulate 40664994
Carcinogenesis Associate 31392992
Carcinoma Hepatocellular Associate 29397868
Carcinoma Pancreatic Ductal Associate 37432996
Cataract Age Related Nuclear Associate 21549337
Coffin Siris syndrome Associate 33799280, 36352633
Developmental Disabilities Associate 33799280, 34753942, 34906496
Disease Associate 36980188