RHBT1_HUMAN
ID RHBT1_HUMAN Reviewed; 696 AA.
AC O94844;
DT 28-NOV-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 2.
DT 03-AUG-2022, entry version 179.
DE RecName: Full=Rho-related BTB domain-containing protein 1;
GN Name=RHOBTB1; Synonyms=KIAA0740;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RX PubMed=12426103; DOI=10.1016/s0378-1119(02)00980-0;
RA Ramos S., Khademi F., Somesh B.P., Rivero F.;
RT "Genomic organization and expression profile of the small GTPases of the
RT RhoBTB family in human and mouse.";
RL Gene 298:147-157(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=9872452; DOI=10.1093/dnares/5.5.277;
RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A.,
RA Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XI. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 5:277-286(1998).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- INTERACTION:
CC O94844; Q92993: KAT5; NbExp=3; IntAct=EBI-6426999, EBI-399080;
CC O94844; Q8TAP4-4: LMO3; NbExp=3; IntAct=EBI-6426999, EBI-11742507;
CC O94844; P17252: PRKCA; NbExp=3; IntAct=EBI-6426999, EBI-1383528;
CC O94844; O60260-5: PRKN; NbExp=3; IntAct=EBI-6426999, EBI-21251460;
CC O94844; Q15047-2: SETDB1; NbExp=3; IntAct=EBI-6426999, EBI-9090795;
CC O94844; P61981: YWHAG; NbExp=3; IntAct=EBI-6426999, EBI-359832;
CC -!- TISSUE SPECIFICITY: Ubiquitous, with highest levels in skeletal muscle,
CC placenta, testis, stomach, and kidney, followed by uterus and adrenal
CC gland. Expressed in a variety of fetal tissues.
CC {ECO:0000269|PubMed:12426103}.
CC -!- SIMILARITY: Belongs to the small GTPase superfamily. Rho family.
CC {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/RHOBTB1ID42981ch10q22.html";
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DR EMBL; AB018283; BAA34460.2; -; mRNA.
DR EMBL; AK075129; BAC11421.1; -; mRNA.
DR EMBL; BC032848; AAH32848.1; -; mRNA.
DR EMBL; BC041791; AAH41791.1; -; mRNA.
DR CCDS; CCDS7261.1; -.
DR RefSeq; NP_001229288.1; NM_001242359.1.
DR RefSeq; NP_055651.1; NM_014836.4.
DR RefSeq; XP_006718147.1; XM_006718084.1.
DR RefSeq; XP_006718148.1; XM_006718085.1.
DR RefSeq; XP_011538726.1; XM_011540424.1.
DR RefSeq; XP_016872489.1; XM_017017000.1.
DR RefSeq; XP_016872490.1; XM_017017001.1.
DR AlphaFoldDB; O94844; -.
DR SMR; O94844; -.
DR BioGRID; 115217; 155.
DR IntAct; O94844; 24.
DR STRING; 9606.ENSP00000338671; -.
DR iPTMnet; O94844; -.
DR PhosphoSitePlus; O94844; -.
DR BioMuta; RHOBTB1; -.
DR EPD; O94844; -.
DR MassIVE; O94844; -.
DR PaxDb; O94844; -.
DR PeptideAtlas; O94844; -.
DR PRIDE; O94844; -.
DR ProteomicsDB; 50478; -.
DR Antibodypedia; 14385; 187 antibodies from 27 providers.
DR DNASU; 9886; -.
DR Ensembl; ENST00000337910.10; ENSP00000338671.5; ENSG00000072422.17.
DR Ensembl; ENST00000357917.4; ENSP00000350595.4; ENSG00000072422.17.
DR GeneID; 9886; -.
DR KEGG; hsa:9886; -.
DR MANE-Select; ENST00000337910.10; ENSP00000338671.5; NM_014836.5; NP_055651.1.
DR UCSC; uc001jlh.4; human.
DR CTD; 9886; -.
DR DisGeNET; 9886; -.
DR GeneCards; RHOBTB1; -.
DR HGNC; HGNC:18738; RHOBTB1.
DR HPA; ENSG00000072422; Tissue enhanced (skeletal).
DR MIM; 607351; gene.
DR neXtProt; NX_O94844; -.
DR OpenTargets; ENSG00000072422; -.
DR PharmGKB; PA38664; -.
DR VEuPathDB; HostDB:ENSG00000072422; -.
DR eggNOG; KOG0393; Eukaryota.
DR GeneTree; ENSGT00940000159995; -.
DR HOGENOM; CLU_015517_0_0_1; -.
DR InParanoid; O94844; -.
DR OMA; VSKRTCP; -.
DR OrthoDB; 533443at2759; -.
DR PhylomeDB; O94844; -.
DR TreeFam; TF323347; -.
DR PathwayCommons; O94844; -.
DR Reactome; R-HSA-9013422; RHOBTB1 GTPase cycle.
DR SignaLink; O94844; -.
DR BioGRID-ORCS; 9886; 14 hits in 1115 CRISPR screens.
DR ChiTaRS; RHOBTB1; human.
DR GeneWiki; RHOBTB1; -.
DR GenomeRNAi; 9886; -.
DR Pharos; O94844; Tbio.
DR PRO; PR:O94844; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; O94844; protein.
DR Bgee; ENSG00000072422; Expressed in vastus lateralis and 198 other tissues.
DR ExpressionAtlas; O94844; baseline and differential.
DR Genevisible; O94844; HS.
DR GO; GO:0005938; C:cell cortex; IBA:GO_Central.
DR GO; GO:0042995; C:cell projection; IBA:GO_Central.
DR GO; GO:0031410; C:cytoplasmic vesicle; IBA:GO_Central.
DR GO; GO:0005856; C:cytoskeleton; IBA:GO_Central.
DR GO; GO:0010008; C:endosome membrane; TAS:Reactome.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0005525; F:GTP binding; IBA:GO_Central.
DR GO; GO:0003924; F:GTPase activity; IBA:GO_Central.
DR GO; GO:0019901; F:protein kinase binding; IBA:GO_Central.
DR GO; GO:0007015; P:actin filament organization; IBA:GO_Central.
DR GO; GO:0030865; P:cortical cytoskeleton organization; IBA:GO_Central.
DR GO; GO:0043652; P:engulfment of apoptotic cell; IBA:GO_Central.
DR GO; GO:0007163; P:establishment or maintenance of cell polarity; IBA:GO_Central.
DR GO; GO:0032956; P:regulation of actin cytoskeleton organization; IBA:GO_Central.
DR GO; GO:0008360; P:regulation of cell shape; IBA:GO_Central.
DR GO; GO:0007264; P:small GTPase mediated signal transduction; IEA:InterPro.
DR Gene3D; 3.30.710.10; -; 2.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR027417; P-loop_NTPase.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR InterPro; IPR001806; Small_GTPase.
DR InterPro; IPR003578; Small_GTPase_Rho.
DR PANTHER; PTHR24072; PTHR24072; 1.
DR Pfam; PF00651; BTB; 2.
DR Pfam; PF00071; Ras; 1.
DR SMART; SM00225; BTB; 2.
DR SMART; SM00174; RHO; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR SUPFAM; SSF54695; SSF54695; 2.
DR PROSITE; PS50097; BTB; 2.
DR PROSITE; PS51420; RHO; 1.
PE 1: Evidence at protein level;
KW GTP-binding; Nucleotide-binding; Reference proteome; Repeat.
FT CHAIN 1..696
FT /note="Rho-related BTB domain-containing protein 1"
FT /id="PRO_0000198960"
FT DOMAIN 266..427
FT /note="BTB 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT DOMAIN 485..552
FT /note="BTB 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT REGION 1..210
FT /note="Rho-like"
FT REGION 327..348
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 21..28
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000255"
FT BINDING 84..88
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000255"
FT BINDING 140..143
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000255"
SQ SEQUENCE 696 AA; 79417 MW; 41ECB4425CD32A1A CRC64;
MDADMDYERP NVETIKCVVV GDNAVGKTRL ICARACNTTL TQYQLLATHV PTVWAIDQYR
VCQEVLERSR DVVDEVSVSL RLWDTFGDHH KDRRFAYGRS DVVVLCFSIA NPNSLNHVKS
MWYPEIKHFC PRTPVILVGC QLDLRYADLE AVNRARRPLA RPIKRGDILP PEKGREVAKE
LGLPYYETSV FDQFGIKDVF DNAIRAALIS RRHLQFWKSH LKKVQKPLLQ APFLPPKAPP
PVIKIPECPS MGTNEAACLL DNPLCADVLF ILQDQEHIFA HRIYLATSSS KFYDLFLMEC
EESPNGSEGA CEKEKQSRDF QGRILSVDPE EEREEGPPRI PQADQWKSSN KSLVEALGLE
AEGAVPETQT LTGWSKGFIG MHREMQVNPI SKRMGPMTVV RMDASVQPGP FRTLLQFLYT
GQLDEKEKDL VGLAQIAEVL EMFDLRMMVE NIMNKEAFMN QEITKAFHVR KANRIKECLS
KGTFSDVTFK LDDGAISAHK PLLICSCEWM AAMFGGSFVE SANSEVYLPN INKISMQAVL
DYLYTKQLSP NLDLDPLELI ALANRFCLPH LVALAEQHAV QELTKAATSG VGIDGEVLSY
LELAQFHNAH QLAAWCLHHI CTNYNSVCSK FRKEIKSKSA DNQEYFERHR WPPVWYLKEE
DHYQRVKRER EKEDIALNKH RSRRKWCFWN SSPAVA
