BANF1 (BAF nuclear assembly factor 1)

2019-04-01  

Identity

HGNC
BANF1
LOCATION
11q13.1
LOCUSID
8815
ALIAS
BAF,BCRP1,D14S1460,NGPS

Other Information

Locus ID:

NCBI: 8815
MIM: 603811
HGNC: 17397
Ensembl: ENSG00000175334

Variants:

dbSNP: 8815
ClinVar: 8815
TCGA: ENSG00000175334
COSMIC: BANF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175334ENST00000312175O75531
ENSG00000175334ENST00000312175A0A024R5H0
ENSG00000175334ENST00000445560O75531
ENSG00000175334ENST00000445560A0A024R5H0
ENSG00000175334ENST00000527348O75531
ENSG00000175334ENST00000527348A0A024R5H0
ENSG00000175334ENST00000530204E9PJJ8
ENSG00000175334ENST00000533166O75531
ENSG00000175334ENST00000533166A0A024R5H0

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
HIV Life CycleREACTOMER-HSA-162587
Early Phase of HIV Life CycleREACTOMER-HSA-162594
Integration of provirusREACTOMER-HSA-162592
Integration of viral DNA into host genomic DNAREACTOMER-HSA-175567
2-LTR circle formationREACTOMER-HSA-164843
Autointegration results in viral DNA circlesREACTOMER-HSA-177539
Host Interactions of HIV factorsREACTOMER-HSA-162909
Interactions of Vpr with host cellular proteinsREACTOMER-HSA-176033
Vpr-mediated nuclear import of PICsREACTOMER-HSA-180910
APOBEC3G mediated resistance to HIV-1 infectionREACTOMER-HSA-180689
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
M PhaseREACTOMER-HSA-68886
Mitotic ProphaseREACTOMER-HSA-68875
Nuclear Envelope BreakdownREACTOMER-HSA-2980766
Clearance of Nuclear Envelope Membranes from ChromatinREACTOMER-HSA-2993913
Mitotic Metaphase and AnaphaseREACTOMER-HSA-2555396
Mitotic AnaphaseREACTOMER-HSA-68882
Nuclear Envelope ReassemblyREACTOMER-HSA-2995410
Initiation of Nuclear Envelope ReformationREACTOMER-HSA-2995383

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
379825682024PYCR1, BANF1, and STARD8 Expression in Gastric Carcinoma: A Clinicopathologic, Prognostic, and Immunohistochemical Study.0
381295392024RNA polymerase II promoter-proximal pausing promotes BAF chromatin binding and remodeling.0
382617462024Identification of BANF1 as a novel prognostic biomarker in gastric cancer and validation via in-vitro and in-vivo experiments.0
379825682024PYCR1, BANF1, and STARD8 Expression in Gastric Carcinoma: A Clinicopathologic, Prognostic, and Immunohistochemical Study.0
381295392024RNA polymerase II promoter-proximal pausing promotes BAF chromatin binding and remodeling.0
382617462024Identification of BANF1 as a novel prognostic biomarker in gastric cancer and validation via in-vitro and in-vivo experiments.0
365198462023Hepatitis B Virus X Protein Inhibits the Expression of Barrier To Autointegration factor1 via Upregulating miR-203 Expression in Hepatic Cells.3
367469472023Barrier-to-autointegration factor 1 promotes gammaherpesvirus reactivation from latency.3
365198462023Hepatitis B Virus X Protein Inhibits the Expression of Barrier To Autointegration factor1 via Upregulating miR-203 Expression in Hepatic Cells.3
367469472023Barrier-to-autointegration factor 1 promotes gammaherpesvirus reactivation from latency.3
360397582022The BAF A12T mutation disrupts lamin A/C interaction, impairing robust repair of nuclear envelope ruptures in Nestor-Guillermo progeria syndrome cells.7
360397582022The BAF A12T mutation disrupts lamin A/C interaction, impairing robust repair of nuclear envelope ruptures in Nestor-Guillermo progeria syndrome cells.7
324595682020BAF facilitates interphase nuclear membrane repair through recruitment of nuclear transmembrane proteins.39
327041412020DNA unchained: two assays to discover and study inhibitors of the DNA clustering function of barrier-to-autointegration factor.7
327833692020An additional case of Néstor-Guillermo progeria syndrome diagnosed in early childhood.5

Citation

Dessen P

BANF1 (BAF nuclear assembly factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57801/gene-fusions-explorer/js/haematological-explorer/