BTBDA_HUMAN
ID BTBDA_HUMAN Reviewed; 475 AA.
AC Q9BSF8; B7Z228; Q86WG1;
DT 21-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 23-NOV-2004, sequence version 2.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=BTB/POZ domain-containing protein 10;
DE AltName: Full=Glucose metabolism-related protein 1 {ECO:0000303|PubMed:21267538};
GN Name=BTBD10; Synonyms=GMRP1 {ECO:0000303|PubMed:21267538};
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] (ISOFORM 1), SUBCELLULAR LOCATION, AND TISSUE
RP SPECIFICITY.
RX PubMed=15556295; DOI=10.1016/j.gene.2004.05.028;
RA Chen J., Xu J., Ying K., Cao G., Hu G., Wang L., Luo C., Lou M., Mao Y.,
RA Xie Y., Lu Y.;
RT "Molecular cloning and characterization of a novel human BTB domain-
RT containing gene, BTBD10, which is down-regulated in glioma.";
RL Gene 340:61-69(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Amygdala, and Brain;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Stomach;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Muscle;
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).
RN [6]
RP TISSUE SPECIFICITY.
RX PubMed=21267538; DOI=10.1007/s00125-011-2048-1;
RA Wang X., Liu Y., Yang Z., Zhang Z., Zhou W., Ye Z., Zhang W., Zhang S.,
RA Yang Z., Feng X., Chen F., Hu R.;
RT "Glucose metabolism-related protein 1 (GMRP1) regulates pancreatic beta
RT cell proliferation and apoptosis via activation of Akt signalling pathway
RT in rats and mice.";
RL Diabetologia 54:852-863(2011).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
CC -!- FUNCTION: Plays a major role as an activator of AKT family members by
CC inhibiting PPP2CA-mediated dephosphorylation, thereby keeping AKTs
CC activated. Plays a role in preventing motor neuronal death and
CC accelerating the growth of pancreatic beta cells.
CC {ECO:0000250|UniProtKB:Q80X66}.
CC -!- SUBUNIT: Interacts (via C-terminal 330-amino-acid region) with AKT1;
CC AKT2 and AKT3. Interacts with PPP2CA and PPP1CA.
CC {ECO:0000250|UniProtKB:Q80X66}.
CC -!- INTERACTION:
CC Q9BSF8; Q13618: CUL3; NbExp=4; IntAct=EBI-720180, EBI-456129;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15556295}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q80X66}. Note=Colocalizes with KCTD20 in
CC filamentous structures. {ECO:0000250|UniProtKB:Q80X66}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BSF8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BSF8-2; Sequence=VSP_055552;
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed. Highly expressed in adult
CC brain, testis, aorta and small intestine and weakly expressed in the
CC heart, lung, liver, kidney, pancreas, spleen, thymus, prostate, ovary
CC and colon. Down-regulated in glioma. {ECO:0000269|PubMed:15556295,
CC ECO:0000269|PubMed:21267538}.
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DR EMBL; AY221959; AAO64360.1; -; mRNA.
DR EMBL; AK294259; BAH11714.1; -; mRNA.
DR EMBL; AK316163; BAH14534.1; -; mRNA.
DR EMBL; AL832981; CAH56329.1; -; mRNA.
DR EMBL; AC016884; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC021269; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC005071; AAH05071.2; -; mRNA.
DR CCDS; CCDS73261.1; -. [Q9BSF8-2]
DR CCDS; CCDS7811.1; -. [Q9BSF8-1]
DR RefSeq; NP_001284671.1; NM_001297742.1. [Q9BSF8-2]
DR RefSeq; NP_115696.2; NM_032320.6. [Q9BSF8-1]
DR RefSeq; XP_016873897.1; XM_017018408.1.
DR AlphaFoldDB; Q9BSF8; -.
DR SMR; Q9BSF8; -.
DR BioGRID; 124007; 16.
DR IntAct; Q9BSF8; 12.
DR MINT; Q9BSF8; -.
DR STRING; 9606.ENSP00000431186; -.
DR iPTMnet; Q9BSF8; -.
DR PhosphoSitePlus; Q9BSF8; -.
DR BioMuta; BTBD10; -.
DR DMDM; 74733002; -.
DR EPD; Q9BSF8; -.
DR jPOST; Q9BSF8; -.
DR MassIVE; Q9BSF8; -.
DR MaxQB; Q9BSF8; -.
DR PaxDb; Q9BSF8; -.
DR PeptideAtlas; Q9BSF8; -.
DR PRIDE; Q9BSF8; -.
DR ProteomicsDB; 6400; -.
DR ProteomicsDB; 78886; -. [Q9BSF8-1]
DR Antibodypedia; 24598; 215 antibodies from 21 providers.
DR DNASU; 84280; -.
DR Ensembl; ENST00000278174.10; ENSP00000278174.5; ENSG00000148925.11. [Q9BSF8-1]
DR Ensembl; ENST00000530907.5; ENSP00000431186.1; ENSG00000148925.11. [Q9BSF8-2]
DR GeneID; 84280; -.
DR KEGG; hsa:84280; -.
DR MANE-Select; ENST00000278174.10; ENSP00000278174.5; NM_032320.7; NP_115696.2.
DR UCSC; uc001mkz.4; human. [Q9BSF8-1]
DR CTD; 84280; -.
DR DisGeNET; 84280; -.
DR GeneCards; BTBD10; -.
DR HGNC; HGNC:21445; BTBD10.
DR HPA; ENSG00000148925; Low tissue specificity.
DR MIM; 615933; gene.
DR neXtProt; NX_Q9BSF8; -.
DR OpenTargets; ENSG00000148925; -.
DR PharmGKB; PA142672543; -.
DR VEuPathDB; HostDB:ENSG00000148925; -.
DR eggNOG; KOG3840; Eukaryota.
DR GeneTree; ENSGT00390000007975; -.
DR InParanoid; Q9BSF8; -.
DR OMA; HEGLNQQ; -.
DR OrthoDB; 390051at2759; -.
DR PhylomeDB; Q9BSF8; -.
DR TreeFam; TF314369; -.
DR PathwayCommons; Q9BSF8; -.
DR SignaLink; Q9BSF8; -.
DR BioGRID-ORCS; 84280; 14 hits in 1114 CRISPR screens.
DR ChiTaRS; BTBD10; human.
DR GenomeRNAi; 84280; -.
DR Pharos; Q9BSF8; Tbio.
DR PRO; PR:Q9BSF8; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9BSF8; protein.
DR Bgee; ENSG00000148925; Expressed in secondary oocyte and 195 other tissues.
DR ExpressionAtlas; Q9BSF8; baseline and differential.
DR Genevisible; Q9BSF8; HS.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0001650; C:fibrillar center; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:1901215; P:negative regulation of neuron death; ISS:UniProtKB.
DR GO; GO:0042327; P:positive regulation of phosphorylation; ISS:UniProtKB.
DR GO; GO:0044342; P:type B pancreatic cell proliferation; ISS:UniProtKB.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR039886; BTBD10/KCTD20.
DR InterPro; IPR039885; BTBD10/KCTD20_BTB/POZ.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR PANTHER; PTHR21637; PTHR21637; 1.
DR Pfam; PF16017; BTB_3; 1.
DR SMART; SM00225; BTB; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Nucleus; Reference proteome.
FT CHAIN 1..475
FT /note="BTB/POZ domain-containing protein 10"
FT /id="PRO_0000228985"
FT DOMAIN 167..241
FT /note="BTB"
FT REGION 1..143
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 146..475
FT /note="Interaction with AKT family members"
FT /evidence="ECO:0000250|UniProtKB:Q80X66"
FT REGION 455..475
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 52..79
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 94..110
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 111..143
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..33
FT /note="MAGRPHPYDGNSSDPENWDRKLHSRPRKLYKHS -> MPKDADLAFSASLFE
FT RAESLYTLISKFFSCFCVSTLAYTKG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055552"
FT VARIANT 145
FT /note="T -> A (in dbSNP:rs34185489)"
FT /id="VAR_033638"
SQ SEQUENCE 475 AA; 53779 MW; 0D6433891EAA33A6 CRC64;
MAGRPHPYDG NSSDPENWDR KLHSRPRKLY KHSSTSSRIA KGGVDHTKMS LHGASGGHER
SRDRRRSSDR SRDSSHERTE SQLTPCIRNV TSPTRQHHVE REKDHSSSRP SSPRPQKASP
NGSISSAGNS SRNSSQSSSD GSCKTAGEMV FVYENAKEGA RNIRTSERVT LIVDNTRFVV
DPSIFTAQPN TMLGRMFGSG REHNFTRPNE KGEYEVAEGI GSTVFRAILD YYKTGIIRCP
DGISIPELRE ACDYLCISFE YSTIKCRDLS ALMHELSNDG ARRQFEFYLE EMILPLMVAS
AQSGERECHI VVLTDDDVVD WDEEYPPQMG EEYSQIIYST KLYRFFKYIE NRDVAKSVLK
ERGLKKIRLG IEGYPTYKEK VKKRPGGRPE VIYNYVQRPF IRMSWEKEEG KSRHVDFQCV
KSKSITNLAA AAADIPQDQL VVMHPTPQVD ELDILPIHPP SGNSDLDPDA QNPML
