2025-05-09 17:29:44, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_032978 4579 bp mRNA linear PRI 25-JUN-2013 DEFINITION Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 4, mRNA. ACCESSION NM_032978 VERSION NM_032978.6 GI:190684686 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 4579) AUTHORS Navakauskiene,R., Treigyte,G., Borutinskaite,V.V., Matuzevicius,D., Navakauskas,D. and Magnusson,K.E. TITLE Alpha-Dystrobrevin and its associated proteins in human promyelocytic leukemia cells induced to apoptosis JOURNAL J Proteomics 75 (11), 3291-3303 (2012) PUBMED 22507200 REMARK GeneRIF: apoptosis-induction in HL-60 cells involves not only classical markers of apoptosis but also a network alpha-DB-associated proteins at the cell membrane, the cytoplasm and nucleus, affecting key cellular transport processes and cellular structure. REFERENCE 2 (bases 1 to 4579) AUTHORS Borutinskaite,V.V., Magnusson,K.E. and Navakauskiene,R. TITLE alpha-Dystrobrevin distribution and association with other proteins in human promyelocytic NB4 cells treated for granulocytic differentiation JOURNAL Mol. Biol. Rep. 38 (5), 3001-3011 (2011) PUBMED 20111909 REMARK GeneRIF: Results suggest that alpha-dystrobrevin isoforms play a central role in cytoskeleton reorganization via their multiple interactions with actin and actin-associating proteins. REFERENCE 3 (bases 1 to 4579) AUTHORS Lyssand,J.S., Whiting,J.L., Lee,K.S., Kastl,R., Wacker,J.L., Bruchas,M.R., Miyatake,M., Langeberg,L.K., Chavkin,C., Scott,J.D., Gardner,R.G., Adams,M.E. and Hague,C. TITLE Alpha-dystrobrevin-1 recruits alpha-catulin to the alpha1D-adrenergic receptor/dystrophin-associated protein complex signalosome JOURNAL Proc. Natl. Acad. Sci. U.S.A. 107 (50), 21854-21859 (2010) PUBMED 21115837 REMARK GeneRIF: Data show that alpha-dystrobrevin-1 recruits alpha-catulin, which supersensitizes alpha(1D)-AR functional responses by recruiting effector molecules to the signalosome. REFERENCE 4 (bases 1 to 4579) AUTHORS Lanciotti,A., Brignone,M.S., Camerini,S., Serafini,B., Macchia,G., Raggi,C., Molinari,P., Crescenzi,M., Musumeci,M., Sargiacomo,M., Aloisi,F., Petrucci,T.C. and Ambrosini,E. TITLE MLC1 trafficking and membrane expression in astrocytes: role of caveolin-1 and phosphorylation JOURNAL Neurobiol. Dis. 37 (3), 581-595 (2010) PUBMED 19931615 REFERENCE 5 (bases 1 to 4579) AUTHORS Bohm,S.V., Constantinou,P., Tan,S., Jin,H. and Roberts,R.G. TITLE Profound human/mouse differences in alpha-dystrobrevin isoforms: a novel syntrophin-binding site and promoter missing in mouse and rat JOURNAL BMC Biol. 7, 85 (2009) PUBMED 19961569 REMARK GeneRIF: Fundamental functional differences between the alpha-dystrobrevins of mice and humans raises questions about the use of the mouse as a model animal for Duchenne muscular dystrophy. Publication Status: Online-Only REFERENCE 6 (bases 1 to 4579) AUTHORS Sadoulet-Puccio,H.M., Feener,C.A., Schaid,D.J., Thibodeau,S.N., Michels,V.V. and Kunkel,L.M. TITLE The genomic organization of human dystrobrevin JOURNAL Neurogenetics 1 (1), 37-42 (1997) PUBMED 10735273 REFERENCE 7 (bases 1 to 4579) AUTHORS Blake,D.J., Nawrotzki,R., Peters,M.F., Froehner,S.C. and Davies,K.E. TITLE Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein JOURNAL J. Biol. Chem. 271 (13), 7802-7810 (1996) PUBMED 8631824 REFERENCE 8 (bases 1 to 4579) AUTHORS Ahn,A.H., Freener,C.A., Gussoni,E., Yoshida,M., Ozawa,E. and Kunkel,L.M. TITLE The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives JOURNAL J. Biol. Chem. 271 (5), 2724-2730 (1996) PUBMED 8576247 REFERENCE 9 (bases 1 to 4579) AUTHORS Ahn,A.H. and Kunkel,L.M. TITLE Syntrophin binds to an alternatively spliced exon of dystrophin JOURNAL J. Cell Biol. 128 (3), 363-371 (1995) PUBMED 7844150 REFERENCE 10 (bases 1 to 4579) AUTHORS Khurana,T.S., Engle,E.C., Bennett,R.R., Silverman,G.A., Selig,S., Bruns,G.A. and Kunkel,L.M. TITLE (CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein JOURNAL Hum. Mol. Genet. 3 (5), 841 (1994) PUBMED 8081380 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA398530.1, AK291156.1, U46745.1, U26744.1, AI670964.1, AC068506.10 and R45531.1. This sequence is a reference standard in the RefSeqGene project. On Jun 19, 2008 this sequence version replaced gi:189571589. Summary: The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (4), also known as beta transcript, lacks an internal coding exon and multiple exons from the 3' end, and contains an alternate 3' exon, compared to transcript variant 1. This results in a shorter isoform (4) with a distinct C-terminus and missing an internal segment, compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. 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 :: U46745.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025083, ERS025084 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-65 DA398530.1 1-65 66-1155 AK291156.1 1-1090 1156-1934 U46745.1 1212-1990 1935-2738 U26744.1 1616-2419 2739-3163 AI670964.1 93-517 3164-4375 AC068506.10 71246-72457 c 4376-4579 R45531.1 1-204 c FEATURES Location/Qualifiers source 1..4579 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="18" /map="18q12" gene 1..4579 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="dystrobrevin, alpha" /db_xref="GeneID:1837" /db_xref="HGNC:3057" /db_xref="HPRD:03141" /db_xref="MIM:601239" exon 1..214 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 31 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="t" /db_xref="dbSNP:182714659" variation 93 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:185182295" variation 103 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="t" /db_xref="dbSNP:12605957" misc_feature 159..161 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="upstream in-frame stop codon" exon 215..282 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" CDS 216..1919 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="isoform 4 is encoded by transcript variant 4; dystrophin-related protein 3" /codon_start=1 /product="dystrobrevin alpha isoform 4" /protein_id="NP_116760.2" /db_xref="GI:42718001" /db_xref="CCDS:CCDS11908.1" /db_xref="GeneID:1837" /db_xref="HGNC:3057" /db_xref="HPRD:03141" /db_xref="MIM:601239" /translation="
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSRLEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSGVMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHPVECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMFPDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRSSPPKDSEVEQNKLLARAAPAFLKGKGIQYSLNVADRLADEHVLIGLYVNMLRNNPSCMLESSNRLDEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKEEELKQGVSYVPYCRS
" misc_feature 216..1079 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9Y4J8.2); Region: Interaction with MAGEE1 (By similarity)" misc_feature 255..635 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="EF hand; Region: efhand_1; pfam09068" /db_xref="CDD:149945" misc_feature 645..911 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="EF-hand; Region: efhand_2; pfam09069" /db_xref="CDD:149946" misc_feature 936..1082 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane...; Region: ZZ_dystrophin; cd02334" /db_xref="CDD:30238" misc_feature order(942..944,951..953,987..989,996..998,1014..1016, 1023..1025,1053..1055,1065..1067) /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="Zinc-binding sites [ion binding]; other site" /db_xref="CDD:30238" misc_feature order(942..944,951..953,1014..1016,1023..1025) /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="zinc cluster 1 [ion binding]; other site" /db_xref="CDD:30238" misc_feature order(945..947,978..980,984..986,1002..1004,1008..1010) /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="putative charged binding surface; other site" /db_xref="CDD:30238" misc_feature order(981..983,1026..1028,1071..1073,1080..1082) /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="putative hydrophobic binding surface; other site" /db_xref="CDD:30238" misc_feature order(987..989,996..998,1053..1055,1065..1067) /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="zinc cluster 2 [ion binding]; other site" /db_xref="CDD:30238" misc_feature 1404..1556 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9Y4J8.2); Region: Syntrophin-binding region" misc_feature <1632..1835 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="Seryl-tRNA synthetase N-terminal domain; Region: Seryl_tRNA_N; pfam02403" /db_xref="CDD:202232" variation 222 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:200021359" variation 266 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:368000651" exon 283..363 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 307 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:202046233" variation 314 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:200882383" variation 327 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:200256996" variation 341 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:376001633" variation 350 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:1071632" exon 364..577 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 389 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:145335092" variation 421 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:148805060" variation 425 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:117571555" variation 441 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:113870126" variation 444 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:147782267" variation 446 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:147759402" variation 458 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:146923532" variation 507 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:150961489" variation 510 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:200736432" variation 531 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:140768365" variation 568 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:141141892" variation 577 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:104894654" exon 578..663 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 586 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:150147476" variation 603 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:375175495" variation 638 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:376651004" exon 664..818 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 686..687 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="t" /db_xref="dbSNP:11417127" variation 691 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:147115867" variation 694 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:201550119" variation 697 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:199960642" variation 712 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:376007740" variation 721 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:201674479" variation 722 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:367763240" variation 752 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:11877640" variation 754 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:1048081" variation 767 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:201461820" variation 768 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:200306991" exon 819..924 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 829 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:201071018" variation 872 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:140446215" variation 890 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:376519672" exon 925..1091 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 999 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:369043538" variation 1034 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:199617326" variation 1039 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:373047659" variation 1050 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:111611922" exon 1092..1216 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1119 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:199983981" variation 1148 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:114170541" variation 1159 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:138085660" variation 1170 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:141981161" variation 1184 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:201472116" variation 1193 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:200830541" variation 1214 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:61737438" variation 1215 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:148123045" exon 1217..1300 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" STS 1236..1533 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="D6S1400E" /db_xref="UniSTS:147378" variation 1239 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:374704854" variation 1245 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:374347283" exon 1301..1378 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1340 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:192673085" exon 1379..1471 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1395 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:150679265" variation 1414 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:375890182" variation 1422 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:139872140" variation 1433 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:368913791" variation 1434 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:373427602" variation 1441 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:186573363" variation 1455 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:199867593" variation 1467..1468 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="g" /db_xref="dbSNP:34056668" variation 1470 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:377526715" exon 1472..1559 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1480 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:374916548" variation 1529 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:144776465" variation 1549 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:147541731" variation 1556 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:202088347" exon 1560..1657 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1563 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:77320474" variation 1579 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:190619495" variation 1604 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:145061501" variation 1605 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:144880521" exon 1658..1771 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1691 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:149071180" variation 1717 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:199828427" variation 1761 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:371363393" exon 1772..1868 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1777 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:142108185" variation 1845 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:376207145" variation 1854 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:370629863" exon 1869..4570 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1926 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:201502860" variation 1940 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:201973957" variation 1941 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:374013340" variation 1944 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:200632760" variation 1948 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:187308097" variation 1969 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:370551009" variation 1994 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:191713661" variation 2091 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:507645" variation 2092 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:112639757" variation 2093 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:582352" variation 2133 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:184443681" variation 2229 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:506619" variation 2385 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:140811874" variation 2431 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:114527015" variation 2436 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:188534215" variation 2456 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="t" /db_xref="dbSNP:1048106" variation 2457 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:1048107" variation 2481 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:16966107" STS 2505..2629 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="RH12493" /db_xref="UniSTS:89864" variation 2700 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:144656869" variation 2701 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:374561605" STS 2728..2902 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="RH78470" /db_xref="UniSTS:75515" variation 2738 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:200490886" variation 2739 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="a" /db_xref="dbSNP:11287036" variation 2749 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:201233097" variation 2824 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:189321935" STS 2909..3048 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="HSC03H042" /db_xref="UniSTS:10976" variation 2919 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:377416046" variation 2925 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:193107858" variation 3017 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:185505712" polyA_signal 3074..3079 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" polyA_site 3096 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" variation 3159 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:190377237" variation 3182 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:181666942" variation 3536 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:142960774" variation 3611 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:185801837" variation 3638 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:188656537" variation 3639 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:74443670" variation 3645 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:151110663" variation 3675 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:7236860" variation 3696 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:141463558" variation 3801 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:71363471" variation 3914 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="a" /db_xref="dbSNP:34776092" variation 3939 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:143789015" variation 3972 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:181092486" variation 4045 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:611603" variation 4050 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:117671748" variation 4145 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:146862556" variation 4267 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:140264339" variation 4298 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:367960043" STS 4316..4472 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="RH66177" /db_xref="UniSTS:53884" variation 4332 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:371645269" STS 4360..4523 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="RH26327" /db_xref="UniSTS:86395" variation 4368 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:186007310" variation 4394 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:112386664" polyA_signal 4544..4549 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" polyA_site 4570 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" ORIGIN
attgctaccatggtaacggaccacatgatgaggtgtattagattgctgtgtgttgagcacaaggggaagaatgaacacagctttttattgaagttaaaggttactttggagtttgtttggaaatgtgtaaggtcaaatactatagttttcagcatatgtagtacttcagaggaagaattaaggggcatgttggtgcatttaactacaaaaccagaatgattgaagatagtgggaaaagaggaaataccatggcagaaagaagacagctgtttgcagagatgagggctcaagatctggatcgcatccgactctccacctacagaacagcatgcaagcttaggtttgttcagaagaaatgcaatttgcacctggtggacatatggaatgtcatagaagcattgcgggaaaatgctctgaacaacctggacccaaacactgaactcaacgtgtcccgcttagaggctgtgctctccactattttttaccagctcaacaaacggatgccaaccactcaccaaatccatgtggagcagtccatcagcctcctccttaacttcctgcttgcagcgtttgatccggaaggccatggtaaaatttcagtatttgctgtcaaaatggctttagccacattgtgtggagggaagatcatggacaaattaagatatattttctcaatgatttctgactccagtggggtgatggtttatggacgatatgaccaattccttcgggaagttctcaaactacccacggcagtttttgaaggtccttcatttggttacacagaacagtcagccagatcctgtttctcccaacagaaaaaagtcacgttaaatggtttcttggacacgcttatgtcagatcctcccccgcagtgtctggtctggttgcctcttctgcatcgactagcaaatgtggaaaatgtcttccatccggttgagtgttcctactgccacagtgagagtatgatgggatttcgctaccgatgccaacagtgtcacaattaccagctctgtcaggactgcttctggaggggacatgccggtggttctcatagcaaccagcaccaaatgaaagagtacacgtcatggaaatcacctgctaagaagctgactaatgcattaagcaagtccctgagctgtgcttccagccgtgaacctttgcaccccatgttcccagatcagcctgagaagccactcaacttggctcacatcgtgcctcccagacctgtaaccagcatgaacgacaccctgttctcccactctgttccctcctcaggaagtccttttattaccaggagctctcctcccaaggacagtgaagtagagcagaacaaactgctggctagggctgctccagcttttctgaagggcaaagggatacagtacagcctgaatgtggcagacaggctagctgatgaacatgttctcatcgggttgtatgtcaacatgctccggaacaacccctcatgcatgcttgagagttcaaaccggcttgatgaagaacacaggctaattgccaggtatgcggcaaggctggcagcagagtcctcttcgtctcagccacctcagcagagaagtgctcctgacatctctttcaccatcgatgcgaataagcagcaaaggcagctgattgctgagctagaaaacaagaacagagaaatcttacaggagatccagagacttcggctagagcatgaacaagcttctcagcccacgccagagaaggcacagcaaaaccccaccctgctggcagaactccggctcctcagacagcgcaaagatgagctggaacagagaatgtctgctctccaggagagccggagagagctaatggtccagttggagggtctcatgaagctactaaaggaagaagaactgaagcagggagtaagttatgtcccctactgcaggtcttaactaacagtggaggggcctgccgacctgcggttttctcattgcttttgctctaatgtatgttcatgcttcagtttggaaagagaaaaaagtcatactaatttgcttctttttcaatgtagtgcttgaattgagatatataaatttagcattttttataactatcactactatccacatcaaaagaagaactatgacatcttttagaaaagggaacgaattgtcatttattggaaacattttagatccccagaggtataagtttcaaaccagtcttagcttttcaagttgttgatcagacccttctcttaacagagagataccacagtcactagagataccctgaggttcatgtcatcccaaaacccacagcactcagaagctaacctctacacccactcacactgtgagtattcagttcggtttcattttactgaaaacctgtgaaacctctttttataaaaatcaggcaattaaatcccttttcatcacacaattattgagccttgttccccatggctcaccaaaatgtgctcaattttgtgagagaaagactgtactccataactgactattcacgtcccatctttttggctcttccccaaagcagaatccttactgttggttgacagtaatctctttttaaaaagtaactctcagctttttccttagcaccagagcctttcggctccgggagacgagagggtcattacatacttttttttttttctggaaataggggcattgtgactttatagcctaaactggagctgtctgaacctgtggtcaggctcaagagccagcagggggagcagcaaactcaaaaaaaaaaacaaattaaattaaattaaattaaattaaatagaagcaaaataaaagcagctttaatttcaagtgcatgtaccacgctatgtatgacaatatatcccactcactagcattatttaaaagtttcacattatttccatggatcaattagaaccacaacctgtccaatttcaacgtatctttcatttcttctgtatgctcttttctattattcattatgtgtgtttgtgtgtaacaaagaatgtttggaaaatgctggacacatttttacccttcattcccatggtctgtaaaaaaggaaagtgtaaaatcaatctgtaatgtcagacaataaagataatgtattacattattttgtattttgtgaaaaaaattactttactaaattaaagtcaaattttaacagaagacagtccccctgggtgaaggacacataacacatacagcctgtataattgcccatgaatgcatacatggggtattgctattgtatttccaatacacttagatcatggtaaagaaaaatgccttcttcatgatacttctctgcaaatggcttctttcctctcctgtctcttatttagcatgtgcatagaaaaaggaaataaggttcaattataacctccctcctcctagcagagagagagggcaatcatcctgtcgtcatcagccttgctttagccatttcccttggggatactttccaggccatttcccaggcagcaggatcttgaaaggctcctatggaccaggaagttcgtaaacagatggatgcacagagccaaactgtggcagtgcccccaaggtggcgccactgccccctcaccttccagctcctctccaccaagcccctcagcagcttctgcatctcagggggccaacagcgggtactgcggtgtcggtacccaaggaccagggcccacgtcacccagatgtcagcaatacatcgtctgggtagtggcagagtttgcctatttcacttatttatcttttttgcttttatacacaagcctcttttcaaaaaggacctgaggcagcttacaacaaaagatataaacagtgacttcataaaattgaaatagaaaaatcaaaaactaaagaaaataaaatgtgaatatgctaatcttaagggacaaggatgttactctgcatgttctggcaatgaagcaaaaaaaaaaaaaaaaggaaaattatcggtggttttatcagtacagaaataccacttctcaggggaacaaaatttctgttggcataaaatatgaaagaaagtcttcactgggagctttataggagtactggacgatagaaaaggaaaaaaagcagtcatagatttcatgtggctgtttcttatactgacctcagtcaaaattaaaagcagaaccttatcaatcccagccctatagaggcggttctgcaaggaaataaacaaatgctgtccaaatatagacttctcatggtaaaacatgatctaaggagagaatttagaggttttagactggcatctgcttctaaattctgtttttatttatgagtgtttctcccctttggggacattgtctttgtaaaaccaaacttagaacacccccacacaacaaattgtgctggatttaataacctctacttgctttatcataagtctgtgtggttcaatgtagtgttttattatactggcatatataatttctacttacattgtttcttgttagaggtaatgcatgaatttatccctctcgaggagagaacatgaattaaaaaaaatagtgcctgtaatataatgtgatgattatgatatcacaagcaataaatttttttttacaaaacttgaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:1837 -> Molecular function: GO:0005509 [calcium ion binding] evidence: IEA GeneID:1837 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:1837 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA GeneID:1837 -> Biological process: GO:0006941 [striated muscle contraction] evidence: TAS GeneID:1837 -> Biological process: GO:0007165 [signal transduction] evidence: TAS GeneID:1837 -> Biological process: GO:0007268 [synaptic transmission] evidence: TAS GeneID:1837 -> Biological process: GO:0007274 [neuromuscular synaptic transmission] evidence: TAS GeneID:1837 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA GeneID:1837 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA GeneID:1837 -> Cellular component: GO:0030054 [cell junction] evidence: IEA GeneID:1837 -> Cellular component: GO:0043234 [protein complex] evidence: IDA GeneID:1837 -> Cellular component: GO:0045202 [synapse] evidence: IEA
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