BOCKS_DROME
ID BOCKS_DROME Reviewed; 399 AA.
AC Q709R6; Q8SZZ5; Q9VHA7;
DT 06-JUL-2016, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=LEM domain-containing protein Bocksbeutel {ECO:0000305};
GN Name=bocks {ECO:0000312|FlyBase:FBgn0037719};
GN ORFNames=CG9424 {ECO:0000312|FlyBase:FBgn0037719};
OS Drosophila melanogaster (Fruit fly).
OC Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota;
OC Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea;
OC Drosophilidae; Drosophila; Sophophora.
OX NCBI_TaxID=7227 {ECO:0000312|Proteomes:UP000000803};
RN [1] {ECO:0000312|EMBL:CAE54810.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B), FUNCTION, SUBCELLULAR
RP LOCATION (ISOFORMS A AND B), DEVELOPMENTAL STAGE (ISOFORMS A AND B), AND
RP DISRUPTION PHENOTYPE.
RX PubMed=15035436; DOI=10.1078/0171-9335-00350;
RA Wagner N., Schmitt J., Krohne G.;
RT "Two novel LEM-domain proteins are splice products of the annotated
RT Drosophila melanogaster gene CG9424 (Bocksbeutel).";
RL Eur. J. Cell Biol. 82:605-616(2004).
RN [2] {ECO:0000312|Proteomes:UP000000803}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Berkeley {ECO:0000312|Proteomes:UP000000803};
RX PubMed=10731132; DOI=10.1126/science.287.5461.2185;
RA Adams M.D., Celniker S.E., Holt R.A., Evans C.A., Gocayne J.D.,
RA Amanatides P.G., Scherer S.E., Li P.W., Hoskins R.A., Galle R.F.,
RA George R.A., Lewis S.E., Richards S., Ashburner M., Henderson S.N.,
RA Sutton G.G., Wortman J.R., Yandell M.D., Zhang Q., Chen L.X., Brandon R.C.,
RA Rogers Y.-H.C., Blazej R.G., Champe M., Pfeiffer B.D., Wan K.H., Doyle C.,
RA Baxter E.G., Helt G., Nelson C.R., Miklos G.L.G., Abril J.F., Agbayani A.,
RA An H.-J., Andrews-Pfannkoch C., Baldwin D., Ballew R.M., Basu A.,
RA Baxendale J., Bayraktaroglu L., Beasley E.M., Beeson K.Y., Benos P.V.,
RA Berman B.P., Bhandari D., Bolshakov S., Borkova D., Botchan M.R., Bouck J.,
RA Brokstein P., Brottier P., Burtis K.C., Busam D.A., Butler H., Cadieu E.,
RA Center A., Chandra I., Cherry J.M., Cawley S., Dahlke C., Davenport L.B.,
RA Davies P., de Pablos B., Delcher A., Deng Z., Mays A.D., Dew I.,
RA Dietz S.M., Dodson K., Doup L.E., Downes M., Dugan-Rocha S., Dunkov B.C.,
RA Dunn P., Durbin K.J., Evangelista C.C., Ferraz C., Ferriera S.,
RA Fleischmann W., Fosler C., Gabrielian A.E., Garg N.S., Gelbart W.M.,
RA Glasser K., Glodek A., Gong F., Gorrell J.H., Gu Z., Guan P., Harris M.,
RA Harris N.L., Harvey D.A., Heiman T.J., Hernandez J.R., Houck J., Hostin D.,
RA Houston K.A., Howland T.J., Wei M.-H., Ibegwam C., Jalali M., Kalush F.,
RA Karpen G.H., Ke Z., Kennison J.A., Ketchum K.A., Kimmel B.E., Kodira C.D.,
RA Kraft C.L., Kravitz S., Kulp D., Lai Z., Lasko P., Lei Y., Levitsky A.A.,
RA Li J.H., Li Z., Liang Y., Lin X., Liu X., Mattei B., McIntosh T.C.,
RA McLeod M.P., McPherson D., Merkulov G., Milshina N.V., Mobarry C.,
RA Morris J., Moshrefi A., Mount S.M., Moy M., Murphy B., Murphy L.,
RA Muzny D.M., Nelson D.L., Nelson D.R., Nelson K.A., Nixon K., Nusskern D.R.,
RA Pacleb J.M., Palazzolo M., Pittman G.S., Pan S., Pollard J., Puri V.,
RA Reese M.G., Reinert K., Remington K., Saunders R.D.C., Scheeler F.,
RA Shen H., Shue B.C., Siden-Kiamos I., Simpson M., Skupski M.P., Smith T.J.,
RA Spier E., Spradling A.C., Stapleton M., Strong R., Sun E., Svirskas R.,
RA Tector C., Turner R., Venter E., Wang A.H., Wang X., Wang Z.-Y.,
RA Wassarman D.A., Weinstock G.M., Weissenbach J., Williams S.M., Woodage T.,
RA Worley K.C., Wu D., Yang S., Yao Q.A., Ye J., Yeh R.-F., Zaveri J.S.,
RA Zhan M., Zhang G., Zhao Q., Zheng L., Zheng X.H., Zhong F.N., Zhong W.,
RA Zhou X., Zhu S.C., Zhu X., Smith H.O., Gibbs R.A., Myers E.W., Rubin G.M.,
RA Venter J.C.;
RT "The genome sequence of Drosophila melanogaster.";
RL Science 287:2185-2195(2000).
RN [3] {ECO:0000312|Proteomes:UP000000803}
RP GENOME REANNOTATION.
RC STRAIN=Berkeley {ECO:0000312|Proteomes:UP000000803};
RX PubMed=12537572; DOI=10.1186/gb-2002-3-12-research0083;
RA Misra S., Crosby M.A., Mungall C.J., Matthews B.B., Campbell K.S.,
RA Hradecky P., Huang Y., Kaminker J.S., Millburn G.H., Prochnik S.E.,
RA Smith C.D., Tupy J.L., Whitfield E.J., Bayraktaroglu L., Berman B.P.,
RA Bettencourt B.R., Celniker S.E., de Grey A.D.N.J., Drysdale R.A.,
RA Harris N.L., Richter J., Russo S., Schroeder A.J., Shu S.Q., Stapleton M.,
RA Yamada C., Ashburner M., Gelbart W.M., Rubin G.M., Lewis S.E.;
RT "Annotation of the Drosophila melanogaster euchromatic genome: a systematic
RT review.";
RL Genome Biol. 3:RESEARCH0083.1-RESEARCH0083.22(2002).
RN [4] {ECO:0000312|EMBL:AAL39830.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
RC STRAIN=Berkeley {ECO:0000312|EMBL:AAL39830.1};
RA Stapleton M., Brokstein P., Hong L., Agbayani A., Carlson J., Champe M.,
RA Chavez C., Dorsett V., Farfan D., Frise E., George R., Gonzalez M.,
RA Guarin H., Li P., Liao G., Miranda A., Mungall C.J., Nunoo J., Pacleb J.,
RA Paragas V., Park S., Phouanenavong S., Wan K., Yu C., Lewis S.E.,
RA Rubin G.M., Celniker S.;
RL Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases.
RN [5] {ECO:0000305}
RP SUBCELLULAR LOCATION, AND DEVELOPMENTAL STAGE.
RX PubMed=16439308; DOI=10.1016/j.ejcb.2005.10.002;
RA Wagner N., Kagermeier B., Loserth S., Krohne G.;
RT "The Drosophila melanogaster LEM-domain protein MAN1.";
RL Eur. J. Cell Biol. 85:91-105(2006).
RN [6] {ECO:0000305}
RP SUBCELLULAR LOCATION.
RX PubMed=18723885; DOI=10.1534/genetics.108.091371;
RA Pinto B.S., Wilmington S.R., Hornick E.E., Wallrath L.L., Geyer P.K.;
RT "Tissue-specific defects are caused by loss of the Drosophila MAN1 LEM
RT domain protein.";
RL Genetics 180:133-145(2008).
RN [7] {ECO:0000305}
RP FUNCTION, SUBCELLULAR LOCATION, AND DISRUPTION PHENOTYPE.
RX PubMed=24700158; DOI=10.1534/genetics.114.162941;
RA Barton L.J., Wilmington S.R., Martin M.J., Skopec H.M., Lovander K.E.,
RA Pinto B.S., Geyer P.K.;
RT "Unique and shared functions of nuclear lamina LEM domain proteins in
RT Drosophila.";
RL Genetics 197:653-665(2014).
CC -!- FUNCTION: Inner nuclear membrane protein (PubMed:15035436,
CC PubMed:24700158). May have a role in maintaining the structural
CC integrity of the nuclear lamina (PubMed:24700158). During pupal
CC development, plays essential and redundant functions with the other LEM
CC domain proteins; MAN1 and Ote (PubMed:24700158). Also has a redundant
CC but important role with Ote in larval development (PubMed:24700158).
CC {ECO:0000269|PubMed:15035436, ECO:0000269|PubMed:24700158}.
CC -!- SUBCELLULAR LOCATION: Nucleus inner membrane
CC {ECO:0000269|PubMed:15035436, ECO:0000269|PubMed:16439308,
CC ECO:0000269|PubMed:18723885, ECO:0000269|PubMed:24700158}; Single-pass
CC membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:15035436,
CC ECO:0000269|PubMed:16439308}. Nucleus, nucleoplasm
CC {ECO:0000269|PubMed:16439308}. Note=Detected in the nucleus envelope
CC and cytoplasm. In the cytoplasm, it appears to localize to discrete
CC foci. {ECO:0000269|PubMed:15035436, ECO:0000305|PubMed:15035436}.
CC -!- SUBCELLULAR LOCATION: [Isoform A]: Nucleus, nucleoplasm
CC {ECO:0000269|PubMed:15035436}. Cytoplasm {ECO:0000269|PubMed:15035436}.
CC Note=Predominantly expressed in the nucleoplasm with very low
CC expression levels in the cytoplasm. {ECO:0000269|PubMed:15035436}.
CC -!- SUBCELLULAR LOCATION: [Isoform B]: Nucleus inner membrane
CC {ECO:0000269|PubMed:15035436}; Single-pass membrane protein
CC {ECO:0000255}. Endoplasmic reticulum {ECO:0000269|PubMed:15035436}.
CC Note=Appears to be predominantly expressed in the nucleus envelope but
CC expression is not uniform. Outside of the nucleus it is located to
CC discrete foci which may be the endoplasmic reticulum.
CC {ECO:0000269|PubMed:15035436, ECO:0000305|PubMed:15035436}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=B {ECO:0000312|FlyBase:FBgn0037719}; Synonyms=alpha
CC {ECO:0000303|PubMed:15035436};
CC IsoId=Q709R6-1; Sequence=Displayed;
CC Name=A {ECO:0000312|FlyBase:FBgn0037719}; Synonyms=beta
CC {ECO:0000303|PubMed:15035436};
CC IsoId=Q709R6-2; Sequence=VSP_058424, VSP_058425;
CC -!- DEVELOPMENTAL STAGE: Uniform expression throughout development and in
CC adults (at protein level) (PubMed:16439308). Isoform A: Expressed in
CC larvae (PubMed:15035436). Isoform B: Lower levels of expression in
CC larvae compared to isoform A (PubMed:15035436).
CC {ECO:0000269|PubMed:15035436, ECO:0000269|PubMed:16439308}.
CC -!- DISRUPTION PHENOTYPE: Viable and fertile, with no obvious phenotype
CC (PubMed:15035436, PubMed:24700158). In the salivary gland nuclei of
CC third-instar larvae, there are increased deformities in the nuclear
CC lamina with 1 to 7 abnormal O-shaped Lam-containing structures
CC (PubMed:24700158). No significant decrease in adult survival, however
CC double mutants with either Ote or MAN1 do not survive to the adult
CC stage (PubMed:24700158). Double bocks and Ote mutants larvae have small
CC brains, their imaginal disks are reduced in size or absent, and only
CC 10% of second-instar larvae reach the pupal stage (PubMed:24700158). In
CC bocks and MAN1 double mutants, pupal survival and larvae development is
CC unaffected (PubMed:24700158). {ECO:0000269|PubMed:15035436,
CC ECO:0000269|PubMed:24700158}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AE014297; AAF54412.2; -; Genomic_DNA.
DR EMBL; AE014297; AAX52941.1; -; Genomic_DNA.
DR EMBL; AY069685; AAL39830.1; -; mRNA.
DR EMBL; AJ606681; CAE54810.1; -; mRNA.
DR EMBL; AJ606682; CAE54811.1; -; mRNA.
DR RefSeq; NP_001014611.1; NM_001014611.3. [Q709R6-1]
DR RefSeq; NP_649917.1; NM_141660.4. [Q709R6-2]
DR AlphaFoldDB; Q709R6; -.
DR SMR; Q709R6; -.
DR IntAct; Q709R6; 2.
DR STRING; 7227.FBpp0099982; -.
DR PaxDb; Q709R6; -.
DR PRIDE; Q709R6; -.
DR DNASU; 41162; -.
DR EnsemblMetazoa; FBtr0082105; FBpp0099981; FBgn0037719. [Q709R6-2]
DR EnsemblMetazoa; FBtr0100537; FBpp0099982; FBgn0037719. [Q709R6-1]
DR GeneID; 41162; -.
DR KEGG; dme:Dmel_CG9424; -.
DR UCSC; CG9424-RA; d. melanogaster.
DR UCSC; CG9424-RB; d. melanogaster. [Q709R6-1]
DR CTD; 41162; -.
DR FlyBase; FBgn0037719; bocks.
DR VEuPathDB; VectorBase:FBgn0037719; -.
DR eggNOG; ENOG502T2WE; Eukaryota.
DR GeneTree; ENSGT00530000067345; -.
DR InParanoid; Q709R6; -.
DR OMA; PQLNDFY; -.
DR PhylomeDB; Q709R6; -.
DR SignaLink; Q709R6; -.
DR BioGRID-ORCS; 41162; 0 hits in 1 CRISPR screen.
DR GenomeRNAi; 41162; -.
DR PRO; PR:Q709R6; -.
DR Proteomes; UP000000803; Chromosome 3R.
DR Bgee; FBgn0037719; Expressed in saliva-secreting gland and 27 other tissues.
DR ExpressionAtlas; Q709R6; baseline and differential.
DR GO; GO:0005737; C:cytoplasm; IDA:FlyBase.
DR GO; GO:0005783; C:endoplasmic reticulum; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IDA:FlyBase.
DR GO; GO:0005635; C:nuclear envelope; IDA:FlyBase.
DR GO; GO:0005637; C:nuclear inner membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005654; C:nucleoplasm; IDA:FlyBase.
DR GO; GO:0007049; P:cell cycle; IEA:UniProtKB-KW.
DR GO; GO:0051301; P:cell division; IEA:UniProtKB-KW.
DR Gene3D; 1.10.720.40; -; 1.
DR InterPro; IPR011015; LEM/LEM-like_dom_sf.
DR InterPro; IPR003887; LEM_dom.
DR Pfam; PF03020; LEM; 1.
DR SMART; SM00540; LEM; 1.
DR SUPFAM; SSF63451; SSF63451; 1.
DR PROSITE; PS50954; LEM; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell cycle; Cell division; Cytoplasm;
KW Endoplasmic reticulum; Membrane; Mitosis; Nucleus; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..399
FT /note="LEM domain-containing protein Bocksbeutel"
FT /id="PRO_0000436842"
FT TRANSMEM 377..397
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 4..48
FT /note="LEM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00313"
FT REGION 49..103
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 119..141
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 233..287
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 67..103
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 119..138
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 233..258
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 350..351
FT /note="VR -> CQ (in isoform A)"
FT /evidence="ECO:0000269|PubMed:15035436"
FT /id="VSP_058424"
FT VAR_SEQ 352..399
FT /note="Missing (in isoform A)"
FT /evidence="ECO:0000269|PubMed:15035436"
FT /id="VSP_058425"
SQ SEQUENCE 399 AA; 44204 MW; A2AE7FD18FFA3BA4 CRC64;
MSDLSYLDTL GNKELLAKCL EHGLPGVPVT DSTRSVIIRR LKAKITGVPL NKSKSASKKA
IPRRETVHGS QVTTPTSEPV RRTPGKSAGR TSSNNNKISE QSRRTIAYGL DNTSISGRSV
QTTTTVSDMS SQSEDDDSYM VDSPVPNYSK DQQPRRYVSL AKSGVLTTSY TREVDQPLYE
QEDIPRSYTY ERPHVPAATL HALPTYEPRI EPSTYRPTDL GFSRPLLTQT NLNSTSYEES
STYNPKLSPI SPRNTFSGSA RPFGGPAPAP APIRQRQSVP VSGSNLARGR LLQPTTAVNT
LYPQLNEFYD QPNDAGEPME TESESEVEEV PINSHFQKNR FSPLARKPLV RHHDQVSPMA
QFRALAVSLD QKYNLKFYLI LVVSVMLATM VYVVLTPNA