BANF1 - BAF nuclear assembly factor 1 Gene

Homo sapiens

Also known as BAF; NGPS; BCRP1; D14S1460

Gene ID: 8815 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01361	BANF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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