LOCUS       NM_016561               2903 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens bifunctional apoptosis regulator (BFAR), transcript
            variant 1, mRNA.
ACCESSION   NM_016561
VERSION     NM_016561.3
KEYWORDS    RefSeq; MANE Select.
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 2903)
  AUTHORS   Mrowiec,K., Chadalski,M., Paszek,A., Vydra,N., Janus,P.,
            Pietrowska,M., Toma-Jonik,A., Gramatyka,M. and Widlak,W.
  TITLE     The periphilin 1-like BFAR isoform 3 is highly expressed in
            transcriptionally silent oocytes and involved in RNA metabolism
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1868 (10), 119086 (2021)
   PUBMED   34175335
  REMARK    GeneRIF: The periphilin 1-like BFAR isoform 3 is highly expressed
            in transcriptionally silent oocytes and involved in RNA metabolism.
REFERENCE   2  (bases 1 to 2903)
  AUTHORS   Pei,S., Huang,M., Huang,J., Zhu,X., Wang,H., Romano,S., Deng,X.,
            Wang,Y., Luo,Y., Hao,S., Xu,J., Yu,T., Zhu,Q., Yuan,J., Shen,K.,
            Liu,Z., Hu,G., Peng,C., Luo,Q., Wen,Z., Dai,D. and Xiao,Y.
  TITLE     BFAR coordinates TGFbeta signaling to modulate Th9-mediated cancer
            immunotherapy
  JOURNAL   J Exp Med 218 (7) (2021)
   PUBMED   33914044
  REMARK    GeneRIF: BFAR coordinates TGFbeta signaling to modulate
            Th9-mediated cancer immunotherapy.
REFERENCE   3  (bases 1 to 2903)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2903)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2903)
  AUTHORS   Li,H., Shi,H. and Huo,K.
  TITLE     p75NTR signal transduction suppressed by BFAR and p75NTR
            interactions
  JOURNAL   Sci China Life Sci 55 (4), 367-374 (2012)
   PUBMED   22566094
  REMARK    GeneRIF: Data show that p75NTR and BFAR co-localized within the
            cytoplasm.
REFERENCE   6  (bases 1 to 2903)
  AUTHORS   Rong,J., Chen,L., Toth,J.I., Tcherpakov,M., Petroski,M.D. and
            Reed,J.C.
  TITLE     Bifunctional apoptosis regulator (BAR), an endoplasmic reticulum
            (ER)-associated E3 ubiquitin ligase, modulates BI-1 protein
            stability and function in ER Stress
  JOURNAL   J Biol Chem 286 (2), 1453-1463 (2011)
   PUBMED   21068390
  REMARK    GeneRIF: post-translational regulation of the BI-1 protein by E3
            ligase BAR contributes to the dynamic control of IRE1 signaling
            during endoplasmic reticulum stress
REFERENCE   7  (bases 1 to 2903)
  AUTHORS   Liu,X., Zhao,P., Tang,S., Lu,F., Hu,J., Lei,C., Yang,X., Lin,Y.,
            Ma,S., Yang,J., Zhang,D., Shi,Y., Li,T., Chen,Y., Fan,Y. and
            Yang,Z.
  TITLE     Association study of complement factor H, C2, CFB, and C3 and
            age-related macular degeneration in a Han Chinese population
  JOURNAL   Retina 30 (8), 1177-1184 (2010)
   PUBMED   20523265
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2903)
  AUTHORS   Chua,C.C., Gao,J., Ho,Y.S., Xu,X., Kuo,I.C., Chua,K.Y., Wang,H.,
            Hamdy,R.C., Reed,J.C. and Chua,B.H.
  TITLE     Over-expression of a modified bifunctional apoptosis regulator
            protects against cardiac injury and doxorubicin-induced
            cardiotoxicity in transgenic mice
  JOURNAL   Cardiovasc Res 81 (1), 20-27 (2009)
   PUBMED   18805781
  REMARK    GeneRIF: Over-expression of BFAR Delta RING renders the heart more
            resistant to I/R injury and DOX-induced cardiotoxicity, and this
            protection correlates with reduced cardiomyocyte apoptosis.
REFERENCE   9  (bases 1 to 2903)
  AUTHORS   Roth,W., Kermer,P., Krajewska,M., Welsh,K., Davis,S., Krajewski,S.
            and Reed,J.C.
  TITLE     Bifunctional apoptosis inhibitor (BAR) protects neurons from
            diverse cell death pathways
  JOURNAL   Cell Death Differ 10 (10), 1178-1187 (2003)
   PUBMED   14502241
REFERENCE   10 (bases 1 to 2903)
  AUTHORS   Zhang,H., Xu,Q., Krajewski,S., Krajewska,M., Xie,Z., Fuess,S.,
            Kitada,S., Pawlowski,K., Godzik,A. and Reed,J.C.
  TITLE     BAR: An apoptosis regulator at the intersection of caspases and
            Bcl-2 family proteins
  JOURNAL   Proc Natl Acad Sci U S A 97 (6), 2597-2602 (2000)
   PUBMED   10716992
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI912683.1, BC003054.1, AF173003.1 and BU621058.1.
            
            On Nov 22, 2018 this sequence version replaced NM_016561.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: SRR1803611.98700.1,
                                           SRR1803617.184720.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261658.7/ ENSP00000261658.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-29                BI912683.1         141-169
            30-1803             BC003054.1         1-1774
            1804-2518           AF173003.1         1816-2530
            2519-2903           BU621058.1         18-402              c
FEATURES             Location/Qualifiers
     source          1..2903
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.12"
     gene            1..2903
                     /gene="BFAR"
                     /gene_synonym="BAR; RNF47"
                     /note="bifunctional apoptosis regulator"
                     /db_xref="GeneID:51283"
                     /db_xref="HGNC:HGNC:17613"
                     /db_xref="MIM:619516"
     exon            1..68
                     /gene="BFAR"
                     /gene_synonym="BAR; RNF47"
                     /inference="alignment:Splign:2.1.0"
     exon            69..404
                     /gene="BFAR"
                     /gene_synonym="BAR; RNF47"
                     /inference="alignment:Splign:2.1.0"
     CDS             142..1494
                     /gene="BFAR"
                     /gene_synonym="BAR; RNF47"
                     /EC_number="2.3.2.27"
                     /note="isoform 1 is encoded by transcript variant 1; RING
                     finger protein 47; bifunctional apoptosis inhibitor"
                     /codon_start=1
                     /product="bifunctional apoptosis regulator isoform 1"
                     /protein_id="NP_057645.1"
                     /db_xref="CCDS:CCDS10554.1"
                     /db_xref="GeneID:51283"
                     /db_xref="HGNC:HGNC:17613"
                     /db_xref="MIM:619516"
                     /translation="MEEPQKSYVNTMDLERDEPLKSTGPQISVSEFSCHCCYDILVNP
                     TTLNCGHSFCRHCLALWWASSKKTECPECREKWEGFPKVSILLRDAIEKLFPDAIRLR
                     FEDIQQNNDIVQSLAAFQKYGNDQIPLAPNTGRANQQMGGGFFSGVLTALTGVAVVLL
                     VYHWSSRESEHDLLVHKAVAKWTAEEVVLWLEQLGPWASLYRERFLSERVNGRLLLTL
                     TEEEFSKTPYTIENSSHRRAILMELERVKALGVKPPQNLWEYKAVNPGRSLFLLYALK
                     SSPRLSLLYLYLFDYTDTFLPFIHTICPLQEDSSGEDIVTKLLDLKEPTWKQWREFLV
                     KYSFLPYQLIAEFAWDWLEVHYWTSRFLIINAMLLSVLELFSFWRIWSRSELKTVPQR
                     MWSHFWKVSTQGLFVAMFWPLIPQFVCNCLFYWALYFNPIINIDLVVKELRRLETQVL
                     "
     exon            405..609
                     /gene="BFAR"
                     /gene_synonym="BAR; RNF47"
                     /inference="alignment:Splign:2.1.0"
     exon            610..779
                     /gene="BFAR"
                     /gene_synonym="BAR; RNF47"
                     /inference="alignment:Splign:2.1.0"
     exon            780..924
                     /gene="BFAR"
                     /gene_synonym="BAR; RNF47"
                     /inference="alignment:Splign:2.1.0"
     exon            925..1098
                     /gene="BFAR"
                     /gene_synonym="BAR; RNF47"
                     /inference="alignment:Splign:2.1.0"
     exon            1099..1301
                     /gene="BFAR"
                     /gene_synonym="BAR; RNF47"
                     /inference="alignment:Splign:2.1.0"
     exon            1302..2903
                     /gene="BFAR"
                     /gene_synonym="BAR; RNF47"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2529..2534
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BFAR"
                     /gene_synonym="BAR; RNF47"
                     /note="hexamer: AATAAA"
     polyA_site      2558
                     /gene="BFAR"
                     /gene_synonym="BAR; RNF47"
                     /note="major polyA site"
     regulatory      2654..2659
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BFAR"
                     /gene_synonym="BAR; RNF47"
                     /note="hexamer: TATAAA"
     polyA_site      2675
                     /gene="BFAR"
                     /gene_synonym="BAR; RNF47"
                     /note="major polyA site"
     regulatory      2875..2880
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BFAR"
                     /gene_synonym="BAR; RNF47"
                     /note="hexamer: AATAAA"
     polyA_site      2903
                     /gene="BFAR"
                     /gene_synonym="BAR; RNF47"
                     /note="major polyA site"
ORIGIN      
        1 ctcttcctct gctcccgcgg ggtctgtgct gagaataatg gcccggttgg cccgggacga
       61 gtggaatgat taatgatgtt ttgcagcagt tttctacgtc tgaaattttt tatgtctctg
      121 gaacccagaa tttgctaaga gatggaggaa cctcagaaaa gctatgtgaa cacaatggac
      181 cttgagagag atgaacctct caaaagcacc ggccctcaga tttctgttag tgaattttct
      241 tgccactgct gctacgacat cctggttaac cccaccacct tgaactgtgg gcacagcttc
      301 tgccgtcact gccttgcttt atggtgggca tcttcaaaga aaacagaatg tccagaatgc
      361 agagaaaaat gggaaggttt ccccaaagtc agtattctcc tcagggatgc cattgaaaag
      421 ttatttcctg atgccattag actgagattt gaagacattc agcagaataa tgacatagtc
      481 caaagtcttg cagcctttca gaaatatggg aatgatcaga ttcctttagc tcctaacaca
      541 ggccgagcga atcagcagat gggaggggga ttcttttccg gtgtgctcac agctttaact
      601 ggagtggcag tggtcctgct cgtctatcac tggagcagca gggaatctga acacgacctc
      661 ctggtccaca aggctgtggc caaatggacg gcggaagaag ttgtcctctg gctggagcag
      721 ctgggccctt gggcatctct ttacagggaa aggtttttat ctgaacgagt aaatggaagg
      781 ttgcttttaa ctttgacaga ggaagaattt tccaagacgc cctataccat agaaaacagc
      841 agccacagga gagccatcct catggagcta gaacgtgtca aagcattagg cgtgaagccc
      901 ccccagaatc tctgggaata taaggctgtg aacccaggca ggtccctgtt cctgctatac
      961 gccctcaaga gctcccccag gctgagtctg ctctacctgt acctgtttga ctacaccgac
     1021 accttcctac ctttcatcca caccatctgc cctctgcaag aagacagctc tggggaggac
     1081 atcgtcacca agcttctgga tcttaaggag cctacgtgga agcagtggag agagttcctg
     1141 gtcaaatact ccttccttcc ataccagctg attgctgagt ttgcttggga ctggttggag
     1201 gtccattact ggacatcacg gtttctcatc atcaatgcta tgttactctc agttctggaa
     1261 ttattctcct tttggagaat ctggtcgaga agtgaactga agaccgtgcc tcagaggatg
     1321 tggagccatt tctggaaagt atcaacgcag gggctttttg tggccatgtt ctggcccctc
     1381 atccctcagt ttgtttgcaa ctgtttgttt tactgggccc tgtactttaa cccaattatt
     1441 aacattgatc ttgtggtcaa ggaactccgg cggctggaaa cccaggtgtt gtgactggca
     1501 ctgcccaggc tgagactctt caagtcccgc tgacgtctga gctttgatgc ttaagagggg
     1561 tgaggcaggg agcggacttc ctattttcta ccctcagtaa aacaaggtgc tgctttgtat
     1621 atcaaaagct ccaaccatgt cctctccccc tcagcctgtg ggtggcacga gcaaggactg
     1681 acatccgcac agggaggatt gtctgtttgg ctgacacagc agcagccctt cccacccagc
     1741 caccttcctc acagggacta ggaggctcag tccccaacgg ctggcaagac tcagggtcct
     1801 cagtggacat ggtgtgggtg acatcagaag ggtgccacat cagtcccctc cccaacctca
     1861 gtgactgaca gaggatccgg atctcagagc ctgagaccag gtttattggg gcctggcctg
     1921 tcctctaagt caagtttagg aaaacaagga taagattctg tcataggcat agagagttgc
     1981 acataaaaaa taccgaagaa aacccaaaat tcaatcaaca attctgtctt attgaagagt
     2041 tgctaggatt cagagtaaaa ctcaaaggat tcagtttgag cctagaatga tggttagact
     2101 tgtagtcact gggcttttgt tttgctttat ggaaatcatt gaaggtctgg atccctttct
     2161 ctgaatggag agattgagag ggatgtcggg cagttcccat tagatttagt ggccttcatg
     2221 ttattcagaa ttgttttggt gatacctcac ccctgtaatc ccagcacttt gggtgggtga
     2281 ggcaggcgga tcacttgaag ccaggacttc aagaccagct tggccaacat ggtgaaacct
     2341 catctctact aaaaatacaa aaattagcca agtgtgatgg cacatacctg taatcccagc
     2401 tacttggaat tggaaatcgc ctgaacccag gaggcggagg ttgcagggag ggagactgca
     2461 ccactgcact tcagcctggg tgacagaggg agactctgtc ttaaaaaaaa aaaaaaaatc
     2521 atctgtaaaa taaattccgg gatagtcgtt ttgttcaagg aaatgttttg taaattgagc
     2581 tcacactata taatctttat tgtcctatcc tgatgtataa tacagcaggt ataattacac
     2641 caagcgctat agttataaat atggcatgaa gtgaactatg gccttttatt tccttccagt
     2701 gtgaacacag caggtgtgag atgtcatctt ggaagacagg ccttgcagaa ataggcctac
     2761 atccaaaata ttatcttgtg actccatgaa ccattcatta accctttgta tctttgagtg
     2821 aaaattttac tcaaaagttg catctggaag ttcgaagaaa ttacttgaaa taaaaataaa
     2881 gatttctata tagataaaac cta
//
