BROMI_DANRE
ID BROMI_DANRE Reviewed; 1298 AA.
AC Q5RHR6;
DT 20-JAN-2009, integrated into UniProtKB/Swiss-Prot.
DT 10-JUL-2007, sequence version 2.
DT 03-AUG-2022, entry version 99.
DE RecName: Full=Protein broad-minded;
DE AltName: Full=TBC1 domain family member 32;
GN Name=tbc1d32; Synonyms=bromi; ORFNames=si:dkey-233p4.1;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [2]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
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. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell projection, cilium
CC {ECO:0000250}.
CC -!- DISRUPTION PHENOTYPE: Fish are viable during embryogenesis and early
CC larval stages, but exhibit curvature of the body axis and
CC hydrocephalus, and curled cilia in distal kidney tubules.
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}.
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DR EMBL; BX470129; CAI11664.2; -; Genomic_DNA.
DR EMBL; BX470071; CAI11664.2; JOINED; Genomic_DNA.
DR EMBL; CT955964; CAI11664.2; JOINED; Genomic_DNA.
DR EMBL; BX470071; CAI20996.2; -; Genomic_DNA.
DR EMBL; BX470129; CAI20996.2; JOINED; Genomic_DNA.
DR EMBL; CT955964; CAI20996.2; JOINED; Genomic_DNA.
DR EMBL; CT955964; CAN88284.1; -; Genomic_DNA.
DR EMBL; BX470071; CAN88284.1; JOINED; Genomic_DNA.
DR EMBL; BX470129; CAN88284.1; JOINED; Genomic_DNA.
DR RefSeq; NP_001093493.1; NM_001100023.1.
DR AlphaFoldDB; Q5RHR6; -.
DR SMR; Q5RHR6; -.
DR STRING; 7955.ENSDARP00000122813; -.
DR PaxDb; Q5RHR6; -.
DR Ensembl; ENSDART00000061168; ENSDARP00000061167; ENSDARG00000041734.
DR Ensembl; ENSDART00000144401; ENSDARP00000122813; ENSDARG00000041734.
DR GeneID; 566474; -.
DR KEGG; dre:566474; -.
DR CTD; 221322; -.
DR ZFIN; ZDB-GENE-061106-5; tbc1d32.
DR eggNOG; ENOG502QR93; Eukaryota.
DR GeneTree; ENSGT00940000153528; -.
DR HOGENOM; CLU_260246_0_0_1; -.
DR InParanoid; Q5RHR6; -.
DR OMA; RLHISKY; -.
DR PhylomeDB; Q5RHR6; -.
DR TreeFam; TF329092; -.
DR PRO; PR:Q5RHR6; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 20.
DR Bgee; ENSDARG00000041734; Expressed in testis and 16 other tissues.
DR ExpressionAtlas; Q5RHR6; baseline.
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; IMP:MGI.
DR GO; GO:0060271; P:cilium assembly; IMP:ZFIN.
DR GO; GO:1905515; P:non-motile cilium assembly; IBA:GO_Central.
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 3: Inferred from homology;
KW Cell projection; Cilium; Cytoplasm; Developmental protein;
KW Reference proteome.
FT CHAIN 1..1298
FT /note="Protein broad-minded"
FT /id="PRO_0000360032"
FT DOMAIN 1171..1283
FT /note="Rab-GAP TBC"
SQ SEQUENCE 1298 AA; 147547 MW; 47F87FA4895B33C8 CRC64;
MSQFSTEDEA ELQTLLRKLL KSVKDRISGA PSVECAEEIL LHLEETDKNF HNYEFVKYLR
EYVESSLGAV IEVETENFTK GEGHAVGSGQ DTLVHAVTKN TRESTQYKQM MQTLKQTMMM
VVESLINKFE EDQMKREEMD RKIQHQQSIS QYADNCSDSD SSFNQSYAFI KHEQLQVIAE
KLDPGRPREV RWEALQSLCH APPSDVLSCE SWTGLRRNLS TALTDPDPEL SDKVLQFFAK
TFSSSPLNVT KDIYASIGNT KTLEAHFLYH KLSFPSGTTS IDANRPDMAR LLKQMRLMND
FQKEVTTFWI RHPEKYMEEI IENTLSLLAL HSEQGMSSPG SEKSLEPIHL ISLLDIKATW
FKKWMHGYYS RTVVLRLLER KYKSLIVNAL QQCIYYFDSC DALSEETLEM IHSLEHQQIG
PAGRTLYTSK ELEFVYFVHS LCVLGRLVMY TNGRKFFPIK VKKRRDPVTL TDLVVILINI
MYQHPKPSCG ETALADTMSP TNLVMEVLRT LCDRTECAVE CLYQIPVIET LLAPLITLLT
GKLPKLNSME SALTHTADTL ARIATTERGL SLLLYDRNLV SAEGESISAA HLIVQFTQKL
LAKELQVENS SSMSGAFIFV CRQMYNTCEG LQVLRPYSLH ECIAQAWRTT SSMSERVPTP
VPGAPPALAS QELQSVVAWE EMLLDNLLNF AATPKGLLLL QQTGAINECV TYMFSRFTKK
LQVSRCEKFG YGVMVTQVAT TAPGIVALQS SGFVQTIVVE LWSALECGRE DVRVVHPKST
PMDPIDRSCL KSFLSLVNLL SSPHAVWELL GHRALPNKTE YNLREMATSV LDLMDRLIII
NSDAKIHSLF NYEQSHTFGL RLLSVLCCNL DSFLLLESQY KLTDLLLQGQ RDNVTEPPSG
EGEFIIDGLS VERNHILVRI CAVGGPSERK LPPRALQKGN DPYPWPMVST YPLPKYYIFD
VPKILRTKQE SEIGAFLTSS KETERDASWM DDCRRQFCKI MATKSNTLTG YVLADLLEMV
VLHLSSSSND CFFPPAEYKV VDNSVKTRSL SSVEQLGVEI SLRYGKFLKL LREDSEQDLC
LLLKHCQEFL SQQRVKVTSE LCGYPGHDWF ASTVFLLMHG DVGRSLSLLL RFSRLLPSAF
LWPPRLHSSV HLPIEIAQSA IHPIYSCTAH YVEMLLKAEV PLVFSAFRMS GFTPSQICVQ
WLGQCFWNYL DWPEICQYVT TCVIMGPDYQ VYMCVSALRH LQQDILQHTQ TQDLQVFLKE
EPIQGFRVSN YLEYMEGLER SYRSMVLSDM RSILPRSS