BANF1 BAF nuclear assembly factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BANF1provided by HGNC
Official Full Name: BAF nuclear assembly factor 1provided by HGNC
Primary source: HGNC:HGNC:17397
See related: Ensembl:ENSG00000175334 MIM:603811; AllianceGenome:HGNC:17397
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BAF; NGPS; BCRP1; D14S1460
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]
Expression: Ubiquitous expression in endometrium (RPKM 38.4), ovary (RPKM 38.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (66002079..66004149)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (65996213..65998283)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (65769550..65771620)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

Submit: New GeneRIF Correction See all GeneRIFs (57)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Nestor-Guillermo progeria syndrome MedGen: C3151446 OMIM: 614008 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	Barrier-to-autointegration factor binds directly to HIV-1 Gag and is a host component of HIV-1 virions	PubMed
integrase	gag-pol	Barrier-to-autointegration factor (BAF) is required for the association of viral cDNA with emerin and for chromatin engagement by viral cDNA before integration, indicating potential interactions between BAF, emerin and HIV-1 integrase	PubMed
	gag-pol	The barrier-to-autointegration factor (BAF) is a component of HIV-1 preintegration complexes that functions as an integration cofactor that protects retroviral DNA from autointegration	PubMed
matrix	gag	BANF1 and HIV-1 MA can simultaneously bind to very short DNAs such as a 16 mer duplex oligonucleotide)	PubMed
	gag	Barrier-to-autointegration factor binds directly to HIV-1 Matrix and is hypothesized to contribute to the assembly or activity of HIV-1 pre-integration complexes through its interaction with Matrix	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G06903 (e-PCR)
- UniSTS:1421

RH69702 (e-PCR)
- UniSTS:85705

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA integration	IEA Inferred from Electronic Annotation more info
involved_in chromatin organization	IDA Inferred from Direct Assay more info	PubMed
involved_in chromosome organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic nuclear membrane reassembly	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cGAS/STING signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein ADP-ribosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of type I interferon production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of viral genome replication	IDA Inferred from Direct Assay more info	PubMed
involved_in response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
involved_in response to virus	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of chromatin	IDA Inferred from Direct Assay more info	PubMed
is_active_in condensed chromosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in condensed chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nuclear envelope	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: barrier-to-autointegration factor

Names: barrier to autointegration factor 1; breakpoint cluster region protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_031874.1 RefSeqGene

Range

5425..7071

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001143985.1 → NP_001137457.1 barrier-to-autointegration factor

See identical proteins and their annotated locations for NP_001137457.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AF068235, BC008705, BG748852, BU940708

Consensus CDS

CCDS8125.1

UniProtKB/Swiss-Prot

O60558, O75531, Q6FGG7

UniProtKB/TrEMBL

B2R4V4

Related

ENSP00000416128.2, ENST00000445560.6

Conserved Domains (1) summary

pfam02961
Location:1 → 86

BAF; Barrier to autointegration factor
NM_003860.4 → NP_003851.1 barrier-to-autointegration factor

See identical proteins and their annotated locations for NP_003851.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AP006287, BC005942, BC008705

Consensus CDS

CCDS8125.1

UniProtKB/Swiss-Prot

O60558, O75531, Q6FGG7

UniProtKB/TrEMBL

B2R4V4

Related

ENSP00000310275.2, ENST00000312175.7

Conserved Domains (1) summary

pfam02961
Location:1 → 86

BAF; Barrier to autointegration factor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

66002079..66004149

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017018515.3 → XP_016874004.1 barrier-to-autointegration factor isoform X1

UniProtKB/Swiss-Prot

O60558, O75531, Q6FGG7

UniProtKB/TrEMBL

B2R4V4

Related

ENSP00000433760.1, ENST00000533166.5

Conserved Domains (1) summary

pfam02961
Location:1 → 86

BAF; Barrier to autointegration factor