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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Nestor-Guillermo progeria syndrome Uncertain significance; Likely benign; Benign; no classifications from unflagged records ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Atherosclerosis Atherosclerosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 25169753
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Inherited Blood coagulation disorder Pubtator 21549337 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 40664994 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 31392992 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 29397868 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 25370573
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 37432996 Associate
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 25658920
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 25658920
★☆☆☆☆
Found in Text Mining only