Home |
Help |
Advanced search
2025-05-09 19:09:43, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_003860 1179 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens barrier to autointegration factor 1 (BANF1),
transcript variant 1, mRNA.
ACCESSION NM_003860
VERSION NM_003860.3 GI:221316571
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 1179)
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 1179)
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 1179)
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 1179)
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 1179)
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 1179)
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 1179)
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 1179)
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 1179)
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 1179)
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,
BC005942.1 and BC008705.1.
This sequence is a reference standard in the RefSeqGene project.
On Jan 24, 2009 this sequence version replaced gi:11038645.
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 (1) represents the longer
transcript. 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 :: AF068235.1, BG256286.1 [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
220-422 BG748852.1 3-205
423-1150 BC005942.1 2-729
1151-1179 BC008705.1 716-744
FEATURES Location/Qualifiers
source 1..1179
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q13.1"
gene 1..1179
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/note="barrier to autointegration factor 1"
/db_xref="GeneID:8815"
/db_xref="HGNC:17397"
/db_xref="HPRD:04817"
/db_xref="MIM:603811"
exon 1..492
/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"
variation 430
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:11554558"
variation 439
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="g"
/replace="t"
/db_xref="dbSNP:35208625"
misc_feature 482..484
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/note="upstream in-frame stop codon"
exon 493..631
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/inference="alignment:Splign:1.39.8"
variation 499
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="g"
/db_xref="dbSNP:377369574"
variation 500
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:373689600"
CDS 509..778
/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_003851.1"
/db_xref="GI:4502389"
/db_xref="CCDS:CCDS8125.1"
/db_xref="GeneID:8815"
/db_xref="HGNC:17397"
/db_xref="HPRD:04817"
/db_xref="MIM:603811"
/translation="
MTTSQKHRDFVAEPMGEKPVGSLAGIGEVLGKKLEERGFDKAYVVLGQFLVLKKDEDLFREWLKDTCGANAKQSRDCFGCLREWCDAFL
"
misc_feature 509..511
/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 512..772
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/note="Barrier to autointegration factor; Region: BAF;
smart01023"
/db_xref="CDD:198091"
misc_feature 512..514
/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 515..517
/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 518..520
/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 517
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:150372514"
variation 527
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:371140896"
variation 533
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="a"
/replace="g"
/db_xref="dbSNP:373827318"
variation 542
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="a"
/replace="g"
/db_xref="dbSNP:387906871"
variation 559
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="g"
/db_xref="dbSNP:34305777"
variation 580
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="g"
/replace="t"
/db_xref="dbSNP:137937738"
variation 627
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="a"
/replace="c"
/db_xref="dbSNP:11604921"
exon 632..1152
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/inference="alignment:Splign:1.39.8"
variation 673
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370432107"
variation 679
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:143413856"
variation 712
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:140057395"
variation 718
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:374456907"
variation 723
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="a"
/replace="g"
/db_xref="dbSNP:140412018"
variation 813
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:181035066"
STS 876..1150
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/standard_name="G06903"
/db_xref="UniSTS:1421"
variation 878
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="t"
/db_xref="dbSNP:145574018"
STS 884..1028
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/standard_name="RH69702"
/db_xref="UniSTS:85705"
variation 906
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="a"
/replace="c"
/db_xref="dbSNP:144367403"
variation 955
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="a"
/replace="g"
/db_xref="dbSNP:148797275"
variation 1013
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1802221"
variation 1034
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1802220"
variation 1051
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
/replace="c"
/replace="g"
/db_xref="dbSNP:142270527"
polyA_signal 1133..1138
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
polyA_site 1152
/gene="BANF1"
/gene_synonym="BAF; BCRP1; D14S1460; NGPS"
ORIGIN
ccagtgttcccagttcccaccagtccaactgcgaggagtgcgacgtgagtctgagtctgatccctccgaaaaccgtacttccggcgctgtctcggaggcctcccgtcccctcccttgtccgtcttctaactcttccccacgccaggtccgtcaagcctaagtccttgagttccgggtccgggcagcagagaaaggaagtcctctccctggaggcctatctccctcagaactgcgcgagaagcgagaccttagaaggcagggcttcccgcgaaggaccggaaaggagcgcctactaaggacgccgtcgaggtccggggcgcctcaactctatagctctaactggctagaagtgcccaacgtggaatgtttcttttttaaaggcggctcttgaagcgacccggaagcggaagtggaagaaagttctagtggcttgaggtatccgcaggagcggccgggtggcgggaggaaccgttacgggaactgaagttgcggattaagcctgatcaagatgacaacctcccaaaagcaccgagacttcgtggcagagcccatgggggagaagccagtggggagcctggctgggattggtgaagtcctgggcaagaagctggaggaaaggggttttgacaaggcctatgttgtccttggccagtttctggtgctaaagaaagatgaagacctcttccgggaatggctgaaagacacttgtggcgccaacgccaagcagtcccgggactgcttcggatgccttcgagagtggtgcgacgccttcttgtgatgctctctgggaagctctcaatccccagccctcatccagagtttgcagccgagtagggactcctcccctgtcctctacgaaggaaaagattgctattgtcgtactcacctccgacgtactccggggtcttttgggagttttctcccctaaccatttcaacttttttttggattctcgctcttgcatgcctcccccgtcctttttcccttgccagttccctggtgacagttaccagctttcctgaatggattcccggccccatccctcacccccaccctcactttcaatccgtttgataccatttggctccttttttggcagaacagtcactgtccttgtaaagttttttagatcaataaagtcagtggctttcaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
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
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.