BANF1 - BAF nuclear assembly factor 1 Gene

Also Known as BAF; NGPS; BCRP1; D14S1460

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8815

About BANF1

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:66,002,079-66,004,149 (from NCBI)

This gene has 8 transcripts (splice variants), 235 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in endometrium (RPKM 38.4), ovary (RPKM 38.3) and 25 other tissues.

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 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]

BANF1 Products (2)

mRNA	Protein	Name
NM_001143985.1	NP_001137457.1	barrier-to-autointegration factor
NM_003860.4	NP_003851.1	barrier-to-autointegration factor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables double-stranded DNA binding	IDA IDA: Inferred from direct assay	28841419	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16155580	GOA
enables protein binding	IDA IDA: Inferred from direct assay	31796734	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12163176	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	22399800	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in chromatin organization	IDA IDA: Inferred from direct assay	28841419	GOA
involved in mitotic nuclear membrane reassembly	IDA IDA: Inferred from direct assay	28841419	GOA
involved in negative regulation of cGAS/STING signaling pathway	IDA IDA: Inferred from direct assay	32792394	GOA
involved in negative regulation of innate immune response	IDA IDA: Inferred from direct assay	32792394	GOA
involved in negative regulation of protein ADP-ribosylation	IDA IDA: Inferred from direct assay	31796734	GOA
involved in negative regulation of type I interferon production	IDA IDA: Inferred from direct assay	32792394	GOA
involved in negative regulation of viral genome replication	IDA IDA: Inferred from direct assay	18005698	GOA
involved in response to oxidative stress	IDA IDA: Inferred from direct assay	31796734	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in chromatin	IDA IDA: Inferred from direct assay	31796734	GOA
is active in condensed chromosome	IDA IDA: Inferred from direct assay	28841419	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	18005698	GOA
located in nucleus	IDA IDA: Inferred from direct assay	18005698	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BANF1 Protein Structure

BAF

0
89 a.a.

Protein Preferred Names	Protein Names
barrier-to-autointegration factor	barrier to autointegration factor 1

BANF1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BANF1	O75531	EMD	Homo sapiens	P50402	Lumier	32814053
Intra	BANF1	O75531	EMD	Homo sapiens	P50402	Y2H Array	25502805
Intra	BANF1	O75531	TMIGD1	Homo sapiens	Q6UXZ0	Confocal	37542259
Intra	BANF1	O75531	BANF1	Homo sapiens	O75531	Solution Sedimentation	16155580
Intra	BANF1	O75531	BANF2	Homo sapiens	Q9H503-2	Y2H Prey Pooling	32296183
Intra	BANF1	O75531	TMIGD1	Homo sapiens	Q6UXZ0	Pull Down	37542259
Intra	BANF1	O75531	BANF1	Homo sapiens	O75531	X-Ray Diffraction	16155580
Intra	BANF1	O75531	BANF1	Homo sapiens	O75531	GMS	16155580
Intra	BANF1	O75531	EMD	Homo sapiens	P50402	Far-WB	12163176
Intra	BANF1	O75531	EMD	Homo sapiens	P50402	Validated Y2H	32296183
Intra	BANF1	O75531	BANF2	Homo sapiens	Q9H503-2	Y2H Array	32296183
Intra	BANF1	O75531	EMD	Homo sapiens	P50402	Pull Down	22399800
Intra	BANF1	O75531	EMD	Homo sapiens	P50402	Y2H Array	31515488
Intra	BANF1	O75531	TMIGD1	Homo sapiens	Q6UXZ0	Anti Bait CoIP	37542259
Intra	BANF1	O75531	BANF2	Homo sapiens	Q9H503-2	Validated Y2H	32296183
Intra	BANF1	O75531	ANKLE1	Homo sapiens	Q8NAG6-2	Pull Down	22399800
Intra	BANF1	O75531	RELA	Homo sapiens	Q04206	Anti Bait CoIP	37542259
Intra	BANF1	O75531	RELA	Homo sapiens	Q04206	Confocal	37542259

Cross: Cross-species interaction Intra: Intraspecies interaction

BANF1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81995	BANF1 Antibody (YA1740)	WB	Human
HY-P81995A	BANF1 Antibody (YA1740)(PBS only)	WB	Human

Related Diseases

Diseases	Alias
Nestor-Guillermo Progeria Syndrome	NGPS Pscoo Progeria Syndrome, Childhood-Onset, With Osteolysis Progeria Syndrome Childhood-Onset With Osteolysis Progeria Syndrome, Nestor-Guillermo
Progeroid Syndrome
Vaccinia
Familial Partial Lipodystrophy	Lipodystrophy, Familial Partial Fpld Kobberling-Dunnigan Syndrome Dunnigan Syndrome Koberling-Dunnigan Syndrome Dunnigan-Kobberling Syndrome Fpl Familial Partial Lipodystrophy, Type 2
Emery-Dreifuss Muscular Dystrophy	Edmd Emery-Dreifuss Syndrome Muscular Dystrophy, Emery-Dreifuss Humeroperoneal Neuromuscular Disease Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures Scapuloperoneal Syndrome, X-Linked Benign Scapuloperoneal Muscular Dystrophy With Early Contractures Muscular Dystrophy, Emery-Dreifuss Type Muscular Dystrophy Emery-Dreifuss Dystrophy, Muscular, Emery-Dreifuss Emd - [Emery-Dreifuss Muscular Dystrophy]
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
Clark-Baraitser Syndrome	CLABARS Baraitser Syndrome Autosomal Dominant Intellectual Disability 49 Mental Retardation, Autosomal Dominant 49, Formerly Mrd49, Formerly Intellectual Developmental Disorder, Autosomal Dominant 49 Autosomal Dominant Mental Retardation 49 Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features Mrd49 Progeria Short Stature Pigmented Nevi
Autosomal Dominant Intellectual Developmental Disorder	Autosomal Dominant Mental Retardation Autosomal Dominant Non-Syndromic Mental Retardation Autosomal Dominant Non-Syndromic Intellectual Disability Mental Retardation, Autosomal Dominant
Smarca4-Deficient Sarcoma Of Thorax	Smarca4-Dts Smarca4-Deficient Thoracic Sarcoma
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Malouf Syndrome Najjar Syndrome Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome Cardiogenital Syndrome Genital Anomaly With Cardiomyopathy Cardiomyopathy With Primary Testicular Failure Dilated Cardiomyopathy With Hypergonadotropic Hypogonadism Cardiomyopathy, Congestive, With Hypergonadotropic Hypogonadism Cardiomyopathy, Dilated, With Premature Ovarian Failure Cardiomyopathy Eith Primary Testicular Failure Congestive Cardiomyopathy With Hypergonadotropic Hypogonadism Dilated Cardiomyopathy With Premature Ovarian Failure CMDHH Cardiomyopathy Congestive With Hypergonadotropic Hypogonadism Cardiomyopathy Dilated With Premature Ovarian Failure
Lipodystrophy, Familial Partial, Type 2	FPLD2 Lipoatrophic Diabetes Familial Partial Lipodystrophy Type 2 Familial Partial Lipodystrophy, Dunnigan Type Fpl2 Lipoatrophic Diabetes Mellitus Lipodystrophy, Familial Partial, Dunnigan Type Lipodystrophy, Familial, Of Limbs And Lower Trunk Lipodystrophy, Reverse Partial Familial Partial Lipodystrophy Dunnigan Type Dunnigan Syndrome Familial Lipodystrophy Of Limbs And Lower Trunk Reverse Partial Lipodystrophy Lipodystrophy, Familial Partial, 2 Generalized Lipoatrophy Associated With Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy And Leukomelanodermic Papules Lipodystrophy Familial Of Limbs And Lower Trunk Lipodystrophy Reverse Partial Diabetes Mellitus, Lipoatrophic Familial Partial Lipodystrophy, Type 2 Familial Generalized Lipodystrophy
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	EDMD1 Emd1 Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures X-Linked Emery-Dreifuss Muscular Dystrophy 1 Humeroperoneal Neuromuscular Disease X-Linked Emery-Dreifuss Muscular Dystrophy Scapuloperoneal Syndrome, X-Linked, Formerly Humeroperoneal Neuromuscular Disease, Formerly Scapuloperoneal Syndrome, X-Linked Muscular Dystrophy Tardive Dreifuss-Emery Type With Contractures Scapuloperoneal Syndrome X-Linked X-Edmd Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked
Diamond-Blackfan Anemia 20	DBA20 Rps15a-Related Diamond-Blackfan Anemia
Rhabdoid Cancer	Rhabdoid Tumor Malignant Rhabdoid Tumor Malignant Rhabdoid Tumour Rhabdoid Sarcoma Rhabdoid Tumor Predisposition Syndrome 1 Rhabdoid Tumor Predisposition Syndrome 2 Atypical Teratoid Rhabdoid Tumor Brain Tumor, Posterior Fossa, Of Infancy, Familial Atypical Teratoid/Rhabdoid Tumor
Borjeson-Forssman-Lehmann Syndrome	BFLS Borj Borjeson Syndrome Mrxsbfl Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type Mental Retardation, Epilepsy, And Endocrine Disorders Mental Retardation, Epilepsy, And Endocrine Disorder Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type Mental Deficiency, Epilepsy And Endocrine Disorders Boerjeson-Forssman-Lehmann Syndrome Borjeson-Forssman Syndrome Mental Deficiency-Epilepsy- Endocrine Disorders
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	EDMD2 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy Emd2 Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant Scapuloilioperoneal Atrophy With Cardiopathy Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant Hauptmann-Thannhauser Muscular Dystrophy Cardiomyopathy, Dilated, With Quadriceps Myopathy Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2 Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly Lgmd1b, Formerly Muscular Dystrophy, Proximal, Type 1b, Formerly Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b Lgmd1b Limb-Girdle Muscular Dystrophy 1b Muscular Dystrophy, Proximal, Type 1b Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant
Helsmoortel-Van Der Aa Syndrome	HVDAS Mrd28 Adnp Syndrome Adnp-Related Syndromic Intellectual Disability-Autism Spectrum Disorder Mental Retardation, Autosomal Dominant 28 Adnp-Related Multiple Congenital Anomalies - Intellectual Disability - Autism Spectrum Disorder Mental Retardation, Autosomal Dominant 28, Formerly Mrd28, Formerly Autosomal Dominant Mental Retardation 28 Adnp-Related Intellectual Disability And Autism Spectrum Disorder Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder
Synovium Cancer	Malignant Tumor Of Synovium Synovial Neoplasm
Large Cell Carcinoma With Rhabdoid Phenotype	Large Cell Lung Carcinoma With Rhabdoid Phenotype
Neurilemmomatosis	Schwannomatosis Neurofibromatosis Type 3 Nf3 Neurilemmomatosis Congenital Cutaneous Neurinomatosis Congenital Cutaneous Neurilemmomatosis Multiple Neurilemmomas Multiple Schwannomas Neurilemmomatosis, Congenital Cutaneous Schwannomatosis 1 Neurofibromatosis 3 Mixed Central And Peripheral Neurofibromatosis Nf3 - [Neurofibromatosis Type 3]
Buschke-Ollendorff Syndrome	BOS Dermatoosteopoikilosis Dermatofibrosis Lenticularis Disseminata With Osteopoikilosis Osteopathia Condensans Disseminata Dermatofibrosis Lenticularis Disseminata Disseminated Dermatofibrosis With Osteopoikilosis Dermatofibrosis, Disseminated, With Osteopoikilosis Osteopoikilosis With Or Without Melorheostosis Dermatofibrosis, Disseminated With Osteopoikilosis Dermatofibrosis Disseminata Lenticularis Isolated Osteopoikilosis Osteopoikilosis, Isolated
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Ovarian Clear Cell Carcinoma	Clear-Cell Ovarian Carcinoma
Atypical Teratoid Rhabdoid Tumor	Rhabdoid Tumor Predisposition Syndrome Rtps Atypical Teratoid/Rhabdoid Tumor Rhabdoid Predisposition Syndrome Familial Posterior Fossa Brain Tumor Of Infancy Familial Rhabdoid Tumor At/Rt Atypical Teratoid Rhabdoid Tumour Atypical Teratoid/Rhabdoid Tumour Rhabdoid Tumor Of The Cns Rhabdoid Tumour Of The Cns Familial Posterior Fossa Brain Tumor Syndrome Hereditary Swi/Snf Deficiency Syndrome Atrt
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Hutchinson-Gilford Progeria Syndrome	Progeria HGPS Hutchinson-Gilford Syndrome Hutchinson-Gilford Progeria Hutchinson Gilford Syndrome Hutchinson Gilford Progeria Syndrome Hutchinson-Gilford Disease Progeria Of Childhood Hutchinson-Gilford-Progeria Syndrome
Sarcoma, Synovial	Synovial Sarcoma Synovialosarcoma Synovial Cell Sarcoma Sarcoma Synovial
Immune Deficiency Disease	Immunodeficiency Primary Immunodeficiency Primary Immunodeficiency Disease Immunologic Deficiency Syndromes Hypoimmunity Immune Deficiency Disorder Immunodeficiency Syndrome Immune Disorder Primary Immune Deficiency Disorder Immune System Diseases Human Immunodeficiency Virus Infection Hiv - [Human Immunodeficiency Virus Infection] Hiv Positive Nos Hiv Disease Acquired Immune Deficiency Syndrome-Related Complex Aids-Like Syndrome Aids-Related Complex Nos Arc - [Aids-Related Complex] Immunodeficiency Due To Human Immunodeficiency Virus Infection Unspecified Human Immunodeficiency Virus Disease Hiv Disease Nos Human Immunodeficiency Virus Positive Nos Hiv Nos Deficiency Of Complement Initial Pathway Deficiency Of Complement Terminal Pathway Cfdd - [Complement Factor D Deficiency] Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency Nonfamilial Hypogammaglobulinaemia Common Variable Immune Deficiency Nonfamilial Agammaglobulinaemia Common Variable Agammaglobulinaemia Agammaglobulinaemia Nos Agammaglobulinaemia Antibody Deficiency Syndrome Hypogammaglobulinaemia Antibody Deficiency Syndrome Acquired Agammaglobulinaemia Nos Hypogammaglobulinaemia Nos Hyper Igm
Hypertrichosis
Charge Syndrome	Charge Association Hall-Hittner Syndrome Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies Hhs Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome CHARGES
Cornelia De Lange Syndrome	De Lange Syndrome Brachmann De Lange Syndrome Brachmann-De Lange Syndrome Cdls Bdls Typus Degenerativus Amstelodamensis
Syndromic Intellectual Disability
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01361	BANF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21494	Banf1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28012	Banf1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	BANF1	VGNC	VGNC:54634
Mus musculus	BANF1	MGD	MGI:1346330
Canis familiaris	BANF1	VGNC	VGNC:51841
Felis catus	BANF1	VGNC	VGNC:102740
Rattus norvegicus	BANF1	RGD	RGD:620662
Others	BANF1	NCBI