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2025-05-09 20:26:35, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001143985 1122 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens barrier to autointegration factor 1 (BANF1),
transcript variant 2, mRNA.
ACCESSION NM_001143985
VERSION NM_001143985.1 GI:221316572
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1122)
AUTHORS Capanni,C., Squarzoni,S., Cenni,V., D'Apice,M.R., Gambineri,A.,
Novelli,G., Wehnert,M., Pasquali,R., Maraldi,N.M. and Lattanzi,G.
TITLE Familial partial lipodystrophy, mandibuloacral dysplasia and
restrictive dermopathy feature barrier-to-autointegration factor
(BAF) nuclear redistribution
JOURNAL Cell Cycle 11 (19), 3568-3577 (2012)
PUBMED 22935701
REMARK GeneRIF: The accumulation of wild-type prelamin A detected in
restrictive dermopathy as well as the accumulation of mutated forms
identified in familial partial lipodystrophy and mandibuloacral
dysplasia affect the nuclear localization of BAF protein.
REFERENCE 2 (bases 1 to 1122)
AUTHORS Montes de Oca,R., Andreassen,P.R. and Wilson,K.L.
TITLE Barrier-to-Autointegration Factor influences specific histone
modifications
JOURNAL Nucleus 2 (6), 580-590 (2011)
PUBMED 22127260
REMARK GeneRIF: BAF associated in vivo with SET/I2PP2A (protein
phosphatase 2A inhibitor; blocks H3 dephosphorylation) and G9a
(H3-K9 methyltransferase), but showed no detectable association
with HDAC1 or HATs.
REFERENCE 3 (bases 1 to 1122)
AUTHORS Cabanillas,R., Cadinanos,J., Villameytide,J.A., Perez,M., Longo,J.,
Richard,J.M., Alvarez,R., Duran,N.S., Illan,R., Gonzalez,D.J. and
Lopez-Otin,C.
TITLE Nestor-Guillermo progeria syndrome: a novel premature aging
condition with early onset and chronic development caused by BANF1
mutations
JOURNAL Am. J. Med. Genet. A 155A (11), 2617-2625 (2011)
PUBMED 21932319
REMARK GeneRIF: A single copy of normal BANF1 is sufficient to avoid the
development of Nestor-Guillermo progeria syndrome.
REFERENCE 4 (bases 1 to 1122)
AUTHORS Ibrahim,N., Wicklund,A. and Wiebe,M.S.
TITLE Molecular characterization of the host defense activity of the
barrier to autointegration factor against vaccinia virus
JOURNAL J. Virol. 85 (22), 11588-11600 (2011)
PUBMED 21880762
REMARK GeneRIF: The authors demonstrate that the DNA binding and
dimerization capabilities of BAF are essential for its function as
an antipoxviral effector, while the presence of emerin is not
required.
REFERENCE 5 (bases 1 to 1122)
AUTHORS Huang,Y., Cai,M., Clore,G.M. and Craigie,R.
TITLE No interaction of barrier-to-autointegration factor (BAF) with
HIV-1 MA, cone-rod homeobox (Crx) or MAN1-C in absence of DNA
JOURNAL PLoS ONE 6 (9), E25123 (2011)
PUBMED 21966431
REMARK GeneRIF: The absence of direct binding of BAF to MAN1-C eliminates
disruption of this interaction as the cause of the premature aging
phenotype.
REFERENCE 6 (bases 1 to 1122)
AUTHORS Cai,M., Huang,Y., Zheng,R., Wei,S.Q., Ghirlando,R., Lee,M.S.,
Craigie,R., Gronenborn,A.M. and Clore,G.M.
TITLE Solution structure of the cellular factor BAF responsible for
protecting retroviral DNA from autointegration
JOURNAL Nat. Struct. Biol. 5 (10), 903-909 (1998)
PUBMED 9783751
REFERENCE 7 (bases 1 to 1122)
AUTHORS Lynch,R.A., Piper,M., Bankier,A., Bhugra,B., Surti,U., Liu,J.,
Buckler,A., Dear,P.H. and Menon,A.G.
TITLE Genomic and functional map of the chromosome 14 t(12;14) breakpoint
cluster region in uterine leiomyoma
JOURNAL Genomics 52 (1), 17-26 (1998)
PUBMED 9740667
REFERENCE 8 (bases 1 to 1122)
AUTHORS Dear,P.H., Bankier,A.T. and Piper,M.B.
TITLE A high-resolution metric HAPPY map of human chromosome 14
JOURNAL Genomics 48 (2), 232-241 (1998)
PUBMED 9521877
REFERENCE 9 (bases 1 to 1122)
AUTHORS Lee,M.S. and Craigie,R.
TITLE A previously unidentified host protein protects retroviral DNA from
autointegration
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 95 (4), 1528-1533 (1998)
PUBMED 9465049
REFERENCE 10 (bases 1 to 1122)
AUTHORS Lee,M.S. and Craigie,R.
TITLE Protection of retroviral DNA from autointegration: involvement of a
cellular factor
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 91 (21), 9823-9827 (1994)
PUBMED 7937898
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AF068235.1, BG748852.1,
BU940708.1 and BC008705.1.
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 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].
Transcript Variant: This variant (2) differs in the 5' UTR,
compared to variant 1. Variants 1 and 2 encode the same protein.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AF044773.1, BM800049.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-219 AF068235.1 1-219
220-260 BG748852.1 3-43
261-847 BU940708.1 78-664
848-1122 BC008705.1 470-744
FEATURES Location/Qualifiers
source 1..1122
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q13.1"
gene 1..1122
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/note="barrier to autointegration factor 1"
/db_xref="GeneID:8815"
/db_xref="HGNC:17397"
/db_xref="MIM:603811"
exon 1..435
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/inference="alignment:Splign:1.39.8"
variation 36..37
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace=""
/replace="ag"
/db_xref="dbSNP:373907315"
variation 44
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:117774800"
variation 50
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:192562438"
variation 155
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="a"
/replace="g"
/db_xref="dbSNP:141605220"
variation 198
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="g"
/replace="t"
/db_xref="dbSNP:78790365"
variation 221
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace=""
/replace="c"
/db_xref="dbSNP:371151326"
variation 231
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="g"
/replace="t"
/db_xref="dbSNP:14157"
variation 260
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1786171"
misc_feature 389..391
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/note="upstream in-frame stop codon"
variation 430
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:11554558"
exon 436..574
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/inference="alignment:Splign:1.39.8"
variation 442
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="g"
/db_xref="dbSNP:377369574"
variation 443
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:373689600"
CDS 452..721
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/note="breakpoint cluster region protein 1"
/codon_start=1
/product="barrier-to-autointegration factor"
/protein_id="NP_001137457.1"
/db_xref="GI:221316573"
/db_xref="CCDS:CCDS8125.1"
/db_xref="GeneID:8815"
/db_xref="HGNC:17397"
/db_xref="MIM:603811"
/translation="
MTTSQKHRDFVAEPMGEKPVGSLAGIGEVLGKKLEERGFDKAYVVLGQFLVLKKDEDLFREWLKDTCGANAKQSRDCFGCLREWCDAFL
"
misc_feature 452..454
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/experiment="experimental evidence, no additional details
recorded"
/note="N-acetylmethionine; propagated from
UniProtKB/Swiss-Prot (O75531.1); acetylation site"
misc_feature 455..715
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/note="Barrier to autointegration factor; Region: BAF;
smart01023"
/db_xref="CDD:198091"
misc_feature 455..457
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphothreonine, by VRK1 and VRK2; propagated from
UniProtKB/Swiss-Prot (O75531.1); phosphorylation site"
misc_feature 458..460
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphothreonine, by VRK1 and VRK2; propagated from
UniProtKB/Swiss-Prot (O75531.1); phosphorylation site"
misc_feature 461..463
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine, by VRK1 and VRK2; propagated from
UniProtKB/Swiss-Prot (O75531.1); phosphorylation site"
variation 460
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:150372514"
variation 470
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:371140896"
variation 476
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="a"
/replace="g"
/db_xref="dbSNP:373827318"
variation 485
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="a"
/replace="g"
/db_xref="dbSNP:387906871"
variation 502
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="g"
/db_xref="dbSNP:34305777"
variation 523
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="g"
/replace="t"
/db_xref="dbSNP:137937738"
variation 570
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="a"
/replace="c"
/db_xref="dbSNP:11604921"
exon 575..1095
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/inference="alignment:Splign:1.39.8"
variation 616
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370432107"
variation 622
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:143413856"
variation 655
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:140057395"
variation 661
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:374456907"
variation 666
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="a"
/replace="g"
/db_xref="dbSNP:140412018"
variation 756
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:181035066"
STS 819..1093
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/standard_name="G06903"
/db_xref="UniSTS:1421"
variation 821
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:145574018"
STS 827..971
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/standard_name="RH69702"
/db_xref="UniSTS:85705"
variation 849
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="a"
/replace="c"
/db_xref="dbSNP:144367403"
variation 898
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="a"
/replace="g"
/db_xref="dbSNP:148797275"
variation 956
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1802221"
variation 977
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1802220"
variation 994
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="g"
/db_xref="dbSNP:142270527"
polyA_signal 1076..1081
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
polyA_site 1095
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
ORIGIN
ccagtgttcccagttcccaccagtccaactgcgaggagtgcgacgtgagtctgagtctgatccctccgaaaaccgtacttccggcgctgtctcggaggcctcccgtcccctcccttgtccgtcttctaactcttccccacgccaggtccgtcaagcctaagtccttgagttccgggtccgggcagcagagaaaggaagtcctctccctggaggcctatctccctcagaactgcgcgagaagcgagaccttagaaggcagggcttcccgcgaaggaccggaaaggagcgcctactaaggacgccgtcgaggtccggggcgcctcaactctatagctctaactggctagaagtgcccaacgtggaatgtttcttttttaaaggcggctcttgaagcgacccggaagcggaagtggaagaaagttctagtggcttgagattaagcctgatcaagatgacaacctcccaaaagcaccgagacttcgtggcagagcccatgggggagaagccagtggggagcctggctgggattggtgaagtcctgggcaagaagctggaggaaaggggttttgacaaggcctatgttgtccttggccagtttctggtgctaaagaaagatgaagacctcttccgggaatggctgaaagacacttgtggcgccaacgccaagcagtcccgggactgcttcggatgccttcgagagtggtgcgacgccttcttgtgatgctctctgggaagctctcaatccccagccctcatccagagtttgcagccgagtagggactcctcccctgtcctctacgaaggaaaagattgctattgtcgtactcacctccgacgtactccggggtcttttgggagttttctcccctaaccatttcaacttttttttggattctcgctcttgcatgcctcccccgtcctttttcccttgccagttccctggtgacagttaccagctttcctgaatggattcccggccccatccctcacccccaccctcactttcaatccgtttgataccatttggctccttttttggcagaacagtcactgtccttgtaaagttttttagatcaataaagtcagtggctttcaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:8815 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA
GeneID:8815 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:8815 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS
GeneID:8815 -> Biological process: GO:0007077 [mitotic nuclear envelope disassembly] evidence: TAS
GeneID:8815 -> Biological process: GO:0007084 [mitotic nuclear envelope reassembly] evidence: TAS
GeneID:8815 -> Biological process: GO:0009615 [response to virus] evidence: TAS
GeneID:8815 -> Biological process: GO:0015074 [DNA integration] evidence: IEA
GeneID:8815 -> Biological process: GO:0016032 [viral process] evidence: TAS
GeneID:8815 -> Biological process: GO:0075713 [establishment of integrated proviral latency] evidence: TAS
GeneID:8815 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
GeneID:8815 -> Cellular component: GO:0005694 [chromosome] evidence: IEA
GeneID:8815 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
by
@meso_cacase at
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