BROMI_MOUSE
ID BROMI_MOUSE Reviewed; 1296 AA.
AC Q3URV1;
DT 20-APR-2010, integrated into UniProtKB/Swiss-Prot.
DT 20-APR-2010, sequence version 2.
DT 03-AUG-2022, entry version 107.
DE RecName: Full=Protein broad-minded;
DE AltName: Full=TBC1 domain family member 32;
GN Name=Tbc1d32; Synonyms=Bromi;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 584-1296 (ISOFORM 2).
RC STRAIN=C57BL/6J;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [3]
RP FUNCTION, DISRUPTION PHENOTYPE, INTERACTION WITH CDK20, SUBCELLULAR
RP LOCATION, AND DEVELOPMENTAL STAGE.
RX PubMed=20159594; DOI=10.1016/j.devcel.2009.12.014;
RA Ko H.W., Norman R.X., Tran J., Fuller K.P., Fukuda M., Eggenschwiler J.T.;
RT "Broad-minded links cell cycle-related kinase to cilia assembly and
RT hedgehog signal transduction.";
RL Dev. Cell 18:237-247(2010).
CC -!- FUNCTION: Required for high-level Shh responses in the developing
CC neural tube. Together with CDK20, controls the structure of the primary
CC cilium by coordinating assembly of the ciliary membrane and axoneme,
CC allowing GLI2 to be properly activated in response to Shh signaling.
CC {ECO:0000269|PubMed:20159594}.
CC -!- SUBUNIT: Interacts with CDK20, which promotes CDK20 stability and
CC function (PubMed:20159594). Interacts with FAM149B1; may play a role in
CC cilium assembly. {ECO:0000250|UniProtKB:Q96NH3,
CC ECO:0000269|PubMed:20159594}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20159594}. Cell
CC projection, cilium {ECO:0000269|PubMed:20159594}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q3URV1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q3URV1-2; Sequence=VSP_039021;
CC -!- DEVELOPMENTAL STAGE: Present at 10.5 dpc (at protein level).
CC {ECO:0000269|PubMed:20159594}.
CC -!- DISRUPTION PHENOTYPE: Mice exhibit exencephaly, poorly developed eyes
CC and preaxial polydactyly, due to defects in ventral patterning.
CC {ECO:0000269|PubMed:20159594}.
CC -!- CAUTION: The Rab-GAP TBC domain appears to be inactive, probably due to
CC a lack of the essential Arg and Gln in the catalytic finger motifs.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAE24586.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC153518; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC153521; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC155829; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK141206; BAE24586.1; ALT_INIT; mRNA.
DR CCDS; CCDS48562.1; -. [Q3URV1-1]
DR RefSeq; NP_001028557.2; NM_001033385.3. [Q3URV1-1]
DR AlphaFoldDB; Q3URV1; -.
DR BioGRID; 243551; 1.
DR STRING; 10090.ENSMUSP00000097328; -.
DR PhosphoSitePlus; Q3URV1; -.
DR MaxQB; Q3URV1; -.
DR PaxDb; Q3URV1; -.
DR PRIDE; Q3URV1; -.
DR ProteomicsDB; 265235; -. [Q3URV1-1]
DR ProteomicsDB; 265236; -. [Q3URV1-2]
DR Antibodypedia; 35180; 58 antibodies from 14 providers.
DR Ensembl; ENSMUST00000099739; ENSMUSP00000097328; ENSMUSG00000038122. [Q3URV1-1]
DR GeneID; 544696; -.
DR KEGG; mmu:544696; -.
DR UCSC; uc007fca.1; mouse. [Q3URV1-1]
DR CTD; 221322; -.
DR MGI; MGI:2442827; Tbc1d32.
DR VEuPathDB; HostDB:ENSMUSG00000038122; -.
DR eggNOG; ENOG502QR93; Eukaryota.
DR GeneTree; ENSGT00940000153528; -.
DR HOGENOM; CLU_260246_0_0_1; -.
DR InParanoid; Q3URV1; -.
DR OMA; RLHISKY; -.
DR OrthoDB; 74051at2759; -.
DR PhylomeDB; Q3URV1; -.
DR TreeFam; TF329092; -.
DR BioGRID-ORCS; 544696; 5 hits in 70 CRISPR screens.
DR PRO; PR:Q3URV1; -.
DR Proteomes; UP000000589; Chromosome 10.
DR RNAct; Q3URV1; protein.
DR Bgee; ENSMUSG00000038122; Expressed in pineal body and 216 other tissues.
DR Genevisible; Q3URV1; MM.
DR GO; GO:0005929; C:cilium; IEA:UniProtKB-SubCell.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0035082; P:axoneme assembly; ISO:MGI.
DR GO; GO:0043010; P:camera-type eye development; IMP:MGI.
DR GO; GO:0060271; P:cilium assembly; IGI:MGI.
DR GO; GO:0007368; P:determination of left/right symmetry; IMP:MGI.
DR GO; GO:0042733; P:embryonic digit morphogenesis; IMP:MGI.
DR GO; GO:0007507; P:heart development; IMP:MGI.
DR GO; GO:0001822; P:kidney development; IMP:MGI.
DR GO; GO:0002088; P:lens development in camera-type eye; IMP:MGI.
DR GO; GO:0021915; P:neural tube development; IMP:MGI.
DR GO; GO:0021532; P:neural tube patterning; IGI:MGI.
DR GO; GO:1905515; P:non-motile cilium assembly; IMP:MGI.
DR GO; GO:0061512; P:protein localization to cilium; IMP:MGI.
DR GO; GO:0060041; P:retina development in camera-type eye; IMP:MGI.
DR GO; GO:0003406; P:retinal pigment epithelium development; IMP:MGI.
DR GO; GO:0060021; P:roof of mouth development; IMP:MGI.
DR GO; GO:0007224; P:smoothened signaling pathway; IMP:MGI.
DR GO; GO:0060831; P:smoothened signaling pathway involved in dorsal/ventral neural tube patterning; IGI:MGI.
DR InterPro; IPR032735; BROMI.
DR InterPro; IPR039156; PHAF1/BROMI.
DR InterPro; IPR035969; Rab-GTPase_TBC_sf.
DR PANTHER; PTHR13465; PTHR13465; 1.
DR PANTHER; PTHR13465:SF3; PTHR13465:SF3; 1.
DR Pfam; PF14961; BROMI; 1.
DR SUPFAM; SSF47923; SSF47923; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium; Cytoplasm;
KW Developmental protein; Reference proteome.
FT CHAIN 1..1296
FT /note="Protein broad-minded"
FT /id="PRO_0000393609"
FT DOMAIN 1158..1281
FT /note="Rab-GAP TBC"
FT VAR_SEQ 1148..1296
FT /note="RYLPVDTLGTGIHPIYFCSAHYIEMLLKAEVPLVFSAFHMSGFAPSQICLQW
FT ITQCFWNYLDWIEICHYIATCVVLGPDYQVYVCIAVLKHLQRDILQHTQTQDLQVFLKE
FT EALHGFRVSNYFEYMENLEQNYRPVLLRDMRSIRVQNT -> VRLKDLVLKES (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_039021"
SQ SEQUENCE 1296 AA; 148061 MW; 579503F9466BF39A CRC64;
MAHFSSEDEV MLQAMLRQLF QSVKEKITGA PSLECAEEIL LRLEETDENF HNYEFVKYLR
QHICNMLGSM IEEEMEKCTS DQNQGEDSGY DTVVQHVTKR TQESKEYKEM MHSLKNIMMV
VVEAMINKFE EDETRSEDRQ RKMQSGSCCT DNCSDSDSSF NQSYKFCQGK LRLILDQLDP
GQPKEVRYEA LQTLCSAPPS DVLSCENWTT LCEKLTTSLS DPDPMFTDRI LKFYAQTFTL
SPLHMTKEIY TSLAKYLEVY FLSRENHLPT LSTGVDITSP NVTRLLKKVR LLNEYQKEAP
SFWIRHPEKY MEEIVESTLS LLSVKHEQSH LVPQKILDPI YFFALVDTKA VWFKKWMHAY
YSRTAVLRLL EKKYKCLITT AVQQCVQYLE LCEAMKADEI LRHPKHCGTK QKSFYYSGQE
LQYIYFIHSL CLLGRLLIYT QGRKLFPIKL KNRKDSVSLT NLLVLFTQLI YYSPSCPKMT
SIMCSENYSP ASMVTDVLRM LCDQKECAVE CLYNSTVTEA LLLPIHNLTK GTAAAPDCSE
TALIHIADIL ARIASVEEGL ILLLYGENMN SSEEESLTGA HIIAKFSKKL LEEDISIFSG
SEMLPVVKGA FISVCRQIYG TCEGLQVLLP YGLHESIAKA WKKTSLLSER IPTPVEGSDS
VSSVSQVSPN SVAWEDNLLD DLLNFAATPK GLLLLQRTGA INECVTFMLS QYAKKPQVNR
QKKFGYEVLV VQVASTAAGA VALQNSGFIS ALITELWSNL ECGRDDVRLT HPRATPVDPI
DRSCQKSFLA LVNLLSYPAV YELTANQELP NKAEYSLREV PTCIIDIMDR LIVLNSEAKI
RSLLNYEQSH TFGLRLLSVV CCDLDALLLL EAQYQVSNML LHAQEENTFE ISENHRNFII
DGLSVERNHV LVRINLIGGP SERILPPRML EKGDDPYPWP MFSSYPLPHC YQSEGPRSAD
LKQDNDIGNL LSCFKMSDKQ TEWIENCRRQ FCKTMKSKPD AVHGSALGEL LEKFVLLLTE
NPSECYFPSV EYTATDANVK NESLSSVQQL GMKMTVRYGR FLNLLKDGAE NELALVLKHC
EKFLKQQQSP VTSSLLCLQG NYAGHDWFVS SLFMIMLGDK GKTFHFLQHF SRLLTSAFLW
VPRLHNSRYL PVDTLGTGIH PIYFCSAHYI EMLLKAEVPL VFSAFHMSGF APSQICLQWI
TQCFWNYLDW IEICHYIATC VVLGPDYQVY VCIAVLKHLQ RDILQHTQTQ DLQVFLKEEA
LHGFRVSNYF EYMENLEQNY RPVLLRDMRS IRVQNT
