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2024-03-28 18:59:37, 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:

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

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