Full text data of TMBIM1
TMBIM1
(LFG3, RECS1)
[Confidence: high (present in two of the MS resources)]
Protein lifeguard 3 (Protein RECS1 homolog; Transmembrane BAX inhibitor motif-containing protein 1)
Protein lifeguard 3 (Protein RECS1 homolog; Transmembrane BAX inhibitor motif-containing protein 1)
hRBCD
IPI00290452
IPI00290452 RECS1 protein homolog RECS1 protein homolog membrane n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a 1 n/a 1 1 1 1 2 n/a n/a n/a integral membrane protein n/a found at its expected molecular weight found at molecular weight
IPI00290452 RECS1 protein homolog RECS1 protein homolog membrane n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a 1 n/a 1 1 1 1 2 n/a n/a n/a integral membrane protein n/a found at its expected molecular weight found at molecular weight
UniProt
Q969X1
ID LFG3_HUMAN Reviewed; 311 AA.
AC Q969X1; B3KQY6; Q8N1R3; Q8TAM3; Q96K13;
DT 21-NOV-2003, integrated into UniProtKB/Swiss-Prot.
read moreDT 07-MAR-2006, sequence version 2.
DT 22-JAN-2014, entry version 97.
DE RecName: Full=Protein lifeguard 3;
DE AltName: Full=Protein RECS1 homolog;
DE AltName: Full=Transmembrane BAX inhibitor motif-containing protein 1;
GN Name=TMBIM1; Synonyms=LFG3, RECS1; ORFNames=PP1201, PSEC0158;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT LEU-21.
RC TISSUE=Placenta, and Tongue;
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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT LEU-21.
RX PubMed=15498874; DOI=10.1073/pnas.0404089101;
RA Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H.,
RA Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y.,
RA Shu H., Chen X., Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S.,
RA Gu J.;
RT "Large-scale cDNA transfection screening for genes related to cancer
RT development and progression.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT LEU-21.
RC TISSUE=Placenta;
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-
RT length human cDNAs encoding secretion or membrane proteins from oligo-
RT capped cDNA libraries.";
RL DNA Res. 12:117-126(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain, Colon, and Pancreas;
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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP SUBCELLULAR LOCATION.
RX PubMed=16607040; DOI=10.1266/ggs.81.41;
RA Zhao H., Ito A., Kimura S.H., Yabuta N., Sakai N., Ikawa M., Okabe M.,
RA Matsuzawa Y., Yamashita S., Nojima H.;
RT "RECS1 deficiency in mice induces susceptibility to cystic medial
RT degeneration.";
RL Genes Genet. Syst. 81:41-50(2006).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Platelet;
RX PubMed=18088087; DOI=10.1021/pr0704130;
RA Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J.,
RA Schuetz C., Walter U., Gambaryan S., Sickmann A.;
RT "Phosphoproteome of resting human platelets.";
RL J. Proteome Res. 7:526-534(2008).
RN [8]
RP GENE FAMILY, AND NOMENCLATURE.
RX PubMed=19784873; DOI=10.1007/s10495-009-0402-2;
RA Hu L., Smith T.F., Goldberger G.;
RT "LFG: a candidate apoptosis regulatory gene family.";
RL Apoptosis 14:1255-1265(2009).
CC -!- FUNCTION: Negatively regulates aortic matrix metalloproteinase-9
CC (MMP9) production and may play a protective role in vascular
CC remodeling.
CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (By
CC similarity). Lysosome membrane. Endosome membrane.
CC -!- SIMILARITY: Belongs to the BI1 family. LFG subfamily.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH26693.1; Type=Frameshift; Positions=6;
CC Sequence=BAB55346.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
CC Sequence=BAC11636.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AK027755; BAB55346.1; ALT_INIT; mRNA.
DR EMBL; AK090618; BAG52198.1; -; mRNA.
DR EMBL; AK095270; BAC04516.1; ALT_SEQ; mRNA.
DR EMBL; AF193045; AAG22473.1; -; mRNA.
DR EMBL; AK075465; BAC11636.1; ALT_INIT; mRNA.
DR EMBL; CH471063; EAW70607.1; -; Genomic_DNA.
DR EMBL; BC007980; AAH07980.1; -; mRNA.
DR EMBL; BC013428; AAH13428.1; -; mRNA.
DR EMBL; BC026348; AAH26348.1; -; mRNA.
DR EMBL; BC026693; AAH26693.1; ALT_FRAME; mRNA.
DR RefSeq; NP_071435.2; NM_022152.4.
DR RefSeq; XP_005246815.1; XM_005246758.1.
DR RefSeq; XP_005246816.1; XM_005246759.1.
DR RefSeq; XP_005246817.1; XM_005246760.1.
DR RefSeq; XP_005246818.1; XM_005246761.1.
DR RefSeq; XP_005246819.1; XM_005246762.1.
DR UniGene; Hs.591605; -.
DR ProteinModelPortal; Q969X1; -.
DR IntAct; Q969X1; 6.
DR STRING; 9606.ENSP00000258412; -.
DR PhosphoSite; Q969X1; -.
DR DMDM; 93117549; -.
DR PaxDb; Q969X1; -.
DR PRIDE; Q969X1; -.
DR DNASU; 64114; -.
DR Ensembl; ENST00000258412; ENSP00000258412; ENSG00000135926.
DR Ensembl; ENST00000396809; ENSP00000380025; ENSG00000135926.
DR Ensembl; ENST00000444881; ENSP00000409738; ENSG00000135926.
DR GeneID; 64114; -.
DR KEGG; hsa:64114; -.
DR UCSC; uc002vho.1; human.
DR CTD; 64114; -.
DR GeneCards; GC02M219139; -.
DR HGNC; HGNC:23410; TMBIM1.
DR HPA; HPA012093; -.
DR MIM; 610364; gene.
DR neXtProt; NX_Q969X1; -.
DR PharmGKB; PA142670804; -.
DR eggNOG; COG0670; -.
DR HOGENOM; HOG000060393; -.
DR HOVERGEN; HBG012084; -.
DR InParanoid; Q969X1; -.
DR KO; K06890; -.
DR OMA; PGEWDDR; -.
DR OrthoDB; EOG7VB2G8; -.
DR PhylomeDB; Q969X1; -.
DR GenomeRNAi; 64114; -.
DR NextBio; 65980; -.
DR PRO; PR:Q969X1; -.
DR ArrayExpress; Q969X1; -.
DR Bgee; Q969X1; -.
DR CleanEx; HS_TMBIM1; -.
DR Genevestigator; Q969X1; -.
DR GO; GO:0010008; C:endosome membrane; IDA:UniProtKB.
DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW.
DR GO; GO:0005765; C:lysosomal membrane; IDA:UniProtKB.
DR InterPro; IPR006214; Bax_inhibitor_1-related.
DR PANTHER; PTHR23291; PTHR23291; 1.
DR Pfam; PF01027; Bax1-I; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Endosome; Lysosome; Membrane; Phosphoprotein;
KW Polymorphism; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1 311 Protein lifeguard 3.
FT /FTId=PRO_0000179090.
FT TRANSMEM 110 130 Helical; (Potential).
FT TRANSMEM 134 154 Helical; (Potential).
FT TRANSMEM 165 185 Helical; (Potential).
FT TRANSMEM 190 210 Helical; (Potential).
FT TRANSMEM 221 241 Helical; (Potential).
FT TRANSMEM 246 266 Helical; (Potential).
FT TRANSMEM 286 306 Helical; (Potential).
FT MOD_RES 81 81 Phosphoserine (By similarity).
FT VARIANT 21 21 P -> L (in dbSNP:rs2292553).
FT /FTId=VAR_017382.
FT CONFLICT 119 119 I -> T (in Ref. 1; BAC04516).
SQ SEQUENCE 311 AA; 34607 MW; 12B5741A60C1487F CRC64;
MSNPSAPPPY EDRNPLYPGP PPPGGYGQPS VLPGGYPAYP GYPQPGYGHP AGYPQPMPPT
HPMPMNYGPG HGYDGEERAV SDSFGPGEWD DRKVRHTFIR KVYSIISVQL LITVAIIAIF
TFVEPVSAFV RRNVAVYYVS YAVFVVTYLI LACCQGPRRR FPWNIILLTL FTFAMGFMTG
TISSMYQTKA VIIAMIITAV VSISVTIFCF QTKVDFTSCT GLFCVLGIVL LVTGIVTSIV
LYFQYVYWLH MLYAALGAIC FTLFLAYDTQ LVLGNRKHTI SPEDYITGAL QIYTDIIYIF
TFVLQLMGDR N
//
ID LFG3_HUMAN Reviewed; 311 AA.
AC Q969X1; B3KQY6; Q8N1R3; Q8TAM3; Q96K13;
DT 21-NOV-2003, integrated into UniProtKB/Swiss-Prot.
read moreDT 07-MAR-2006, sequence version 2.
DT 22-JAN-2014, entry version 97.
DE RecName: Full=Protein lifeguard 3;
DE AltName: Full=Protein RECS1 homolog;
DE AltName: Full=Transmembrane BAX inhibitor motif-containing protein 1;
GN Name=TMBIM1; Synonyms=LFG3, RECS1; ORFNames=PP1201, PSEC0158;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT LEU-21.
RC TISSUE=Placenta, and Tongue;
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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT LEU-21.
RX PubMed=15498874; DOI=10.1073/pnas.0404089101;
RA Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H.,
RA Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y.,
RA Shu H., Chen X., Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S.,
RA Gu J.;
RT "Large-scale cDNA transfection screening for genes related to cancer
RT development and progression.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT LEU-21.
RC TISSUE=Placenta;
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-
RT length human cDNAs encoding secretion or membrane proteins from oligo-
RT capped cDNA libraries.";
RL DNA Res. 12:117-126(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain, Colon, and Pancreas;
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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP SUBCELLULAR LOCATION.
RX PubMed=16607040; DOI=10.1266/ggs.81.41;
RA Zhao H., Ito A., Kimura S.H., Yabuta N., Sakai N., Ikawa M., Okabe M.,
RA Matsuzawa Y., Yamashita S., Nojima H.;
RT "RECS1 deficiency in mice induces susceptibility to cystic medial
RT degeneration.";
RL Genes Genet. Syst. 81:41-50(2006).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Platelet;
RX PubMed=18088087; DOI=10.1021/pr0704130;
RA Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J.,
RA Schuetz C., Walter U., Gambaryan S., Sickmann A.;
RT "Phosphoproteome of resting human platelets.";
RL J. Proteome Res. 7:526-534(2008).
RN [8]
RP GENE FAMILY, AND NOMENCLATURE.
RX PubMed=19784873; DOI=10.1007/s10495-009-0402-2;
RA Hu L., Smith T.F., Goldberger G.;
RT "LFG: a candidate apoptosis regulatory gene family.";
RL Apoptosis 14:1255-1265(2009).
CC -!- FUNCTION: Negatively regulates aortic matrix metalloproteinase-9
CC (MMP9) production and may play a protective role in vascular
CC remodeling.
CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (By
CC similarity). Lysosome membrane. Endosome membrane.
CC -!- SIMILARITY: Belongs to the BI1 family. LFG subfamily.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH26693.1; Type=Frameshift; Positions=6;
CC Sequence=BAB55346.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
CC Sequence=BAC11636.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AK027755; BAB55346.1; ALT_INIT; mRNA.
DR EMBL; AK090618; BAG52198.1; -; mRNA.
DR EMBL; AK095270; BAC04516.1; ALT_SEQ; mRNA.
DR EMBL; AF193045; AAG22473.1; -; mRNA.
DR EMBL; AK075465; BAC11636.1; ALT_INIT; mRNA.
DR EMBL; CH471063; EAW70607.1; -; Genomic_DNA.
DR EMBL; BC007980; AAH07980.1; -; mRNA.
DR EMBL; BC013428; AAH13428.1; -; mRNA.
DR EMBL; BC026348; AAH26348.1; -; mRNA.
DR EMBL; BC026693; AAH26693.1; ALT_FRAME; mRNA.
DR RefSeq; NP_071435.2; NM_022152.4.
DR RefSeq; XP_005246815.1; XM_005246758.1.
DR RefSeq; XP_005246816.1; XM_005246759.1.
DR RefSeq; XP_005246817.1; XM_005246760.1.
DR RefSeq; XP_005246818.1; XM_005246761.1.
DR RefSeq; XP_005246819.1; XM_005246762.1.
DR UniGene; Hs.591605; -.
DR ProteinModelPortal; Q969X1; -.
DR IntAct; Q969X1; 6.
DR STRING; 9606.ENSP00000258412; -.
DR PhosphoSite; Q969X1; -.
DR DMDM; 93117549; -.
DR PaxDb; Q969X1; -.
DR PRIDE; Q969X1; -.
DR DNASU; 64114; -.
DR Ensembl; ENST00000258412; ENSP00000258412; ENSG00000135926.
DR Ensembl; ENST00000396809; ENSP00000380025; ENSG00000135926.
DR Ensembl; ENST00000444881; ENSP00000409738; ENSG00000135926.
DR GeneID; 64114; -.
DR KEGG; hsa:64114; -.
DR UCSC; uc002vho.1; human.
DR CTD; 64114; -.
DR GeneCards; GC02M219139; -.
DR HGNC; HGNC:23410; TMBIM1.
DR HPA; HPA012093; -.
DR MIM; 610364; gene.
DR neXtProt; NX_Q969X1; -.
DR PharmGKB; PA142670804; -.
DR eggNOG; COG0670; -.
DR HOGENOM; HOG000060393; -.
DR HOVERGEN; HBG012084; -.
DR InParanoid; Q969X1; -.
DR KO; K06890; -.
DR OMA; PGEWDDR; -.
DR OrthoDB; EOG7VB2G8; -.
DR PhylomeDB; Q969X1; -.
DR GenomeRNAi; 64114; -.
DR NextBio; 65980; -.
DR PRO; PR:Q969X1; -.
DR ArrayExpress; Q969X1; -.
DR Bgee; Q969X1; -.
DR CleanEx; HS_TMBIM1; -.
DR Genevestigator; Q969X1; -.
DR GO; GO:0010008; C:endosome membrane; IDA:UniProtKB.
DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW.
DR GO; GO:0005765; C:lysosomal membrane; IDA:UniProtKB.
DR InterPro; IPR006214; Bax_inhibitor_1-related.
DR PANTHER; PTHR23291; PTHR23291; 1.
DR Pfam; PF01027; Bax1-I; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Endosome; Lysosome; Membrane; Phosphoprotein;
KW Polymorphism; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1 311 Protein lifeguard 3.
FT /FTId=PRO_0000179090.
FT TRANSMEM 110 130 Helical; (Potential).
FT TRANSMEM 134 154 Helical; (Potential).
FT TRANSMEM 165 185 Helical; (Potential).
FT TRANSMEM 190 210 Helical; (Potential).
FT TRANSMEM 221 241 Helical; (Potential).
FT TRANSMEM 246 266 Helical; (Potential).
FT TRANSMEM 286 306 Helical; (Potential).
FT MOD_RES 81 81 Phosphoserine (By similarity).
FT VARIANT 21 21 P -> L (in dbSNP:rs2292553).
FT /FTId=VAR_017382.
FT CONFLICT 119 119 I -> T (in Ref. 1; BAC04516).
SQ SEQUENCE 311 AA; 34607 MW; 12B5741A60C1487F CRC64;
MSNPSAPPPY EDRNPLYPGP PPPGGYGQPS VLPGGYPAYP GYPQPGYGHP AGYPQPMPPT
HPMPMNYGPG HGYDGEERAV SDSFGPGEWD DRKVRHTFIR KVYSIISVQL LITVAIIAIF
TFVEPVSAFV RRNVAVYYVS YAVFVVTYLI LACCQGPRRR FPWNIILLTL FTFAMGFMTG
TISSMYQTKA VIIAMIITAV VSISVTIFCF QTKVDFTSCT GLFCVLGIVL LVTGIVTSIV
LYFQYVYWLH MLYAALGAIC FTLFLAYDTQ LVLGNRKHTI SPEDYITGAL QIYTDIIYIF
TFVLQLMGDR N
//
MIM
610364
*RECORD*
*FIELD* NO
610364
*FIELD* TI
*610364 TRANSMEMBRANE BAX INHIBITOR MOTIF-CONTAINING PROTEIN 1; TMBIM1
;;RESPONSIVE TO CENTRIFUGAL FORCE AND SHEAR STRESS 1; RECS1
read more*FIELD* TX
CLONING
Using cDNA subtractive hybridization in human umbilical vein endothelial
cells (HUVEC) to search for genes upregulated by shear stress, Yoshisue
et al. (2002) cloned TMBIM1, which they called RECS1. Zhao et al. (2006)
determined that the 311-amino acid protein has a calculated molecular
mass of 34.6 kD. Western blot analysis of HUVEC and smooth muscle cells
detected RECS1 at an apparent molecular mass of 30 kD.
Fluorescence-tagged RECS1 was expressed in endosomal and lysosomal
membranes.
Zhao et al. (2006) cloned mouse Tmbim1. The 309-amino acid protein has a
100-amino acid N-terminal proline- and glycine-rich domain followed by 7
transmembrane domains. The N-terminal domain also contains a PPxY motif
within a potential PEST sequence and has several PxxP motifs. There is a
minimal consensus SUMO acceptor site between transmembrane domains 4 and
5. Northern blot analysis detected mouse Recs1 in most tissues except
for thymus, spleen, and testis. RT-PCR also detected Recs1 in murine
fibroblasts and white blood cells.
GENE FUNCTION
Zhao et al. (2006) showed that Recs1-null mouse aortic smooth muscle
cells had higher levels of active and pro-Mmp9 (120361) compared to
wildtype cells, but Mmp2 (120360) protein levels were equivalent in
these cells. They suggested that RECS1 is a negative regulator of aortic
MMP9 production.
GENE STRUCTURE
Zhao et al. (2006) determined that the mouse Tmbim1 gene contains 11
exons and spans about 7.2 kb.
MAPPING
The International Radiation Hybrid Mapping Consortium mapped the TMBIM1
gene to chromosome 2 (TMAP RH12007).
ANIMAL MODEL
Zhao et al. (2006) found Recs1-knockout mice were born at an expected
mendelian frequency, were fertile, and appeared normal. However, mice
over 14 months of age developed cystic medial degeneration (CMD) as
evidenced by overt thoracic aortic media degeneration and acidic
mucopolysaccharide deposition. Lesions were not associated with
inflammatory changes.
Using Western blot analysis and gelatin zymography, Zhao et al. (2006)
found that CMD and aortic dilation in aged Recs1-knockout mice were
associated with increased levels of active Mmp9 and Mmp2.
*FIELD* RF
1. Yoshisue, H.; Suzuki, K.; Kawabata, A.; Ohya, T.; Zhao, H.; Sakurada,
K.; Taba, Y.; Sasguri, T.; Sakai, N.; Yamashita, S.; Matsuzawa, Y.;
Nojima, H.: Large scale isolation of non-uniform shear stress-responsive
genes from cultured endothelial cells through the preparation of a
subtracted cDNA library. Atherosclerosis 162: 323-334, 2002.
2. Zhao, H.; Ito, A.; Kimura, S. H.; Yabuta, N.; Sakai, N.; Ikawa,
M.; Okabe, M.; Matsuzawa, Y.; Yamashita, S.; Nojima, H.: RECS1 deficiency
in mice induces susceptibility to cystic medial degeneration. Genes
Genet. Syst. 81: 41-50, 2006.
3. Zhao, H.; Ito, A.; Sakai, N.; Matsuzawa, Y.; Yamashita, S.; Nojima,
H.: RECS1 is a negative regulator of matrix metalloproteinase-9 production
and aged RECS1 knockout mice are prone to aortic dilation. Circ.
J. 70: 615-624, 2006.
*FIELD* CD
Patricia A. Hartz: 8/30/2006
*FIELD* ED
wwang: 08/30/2006
wwang: 8/30/2006
*RECORD*
*FIELD* NO
610364
*FIELD* TI
*610364 TRANSMEMBRANE BAX INHIBITOR MOTIF-CONTAINING PROTEIN 1; TMBIM1
;;RESPONSIVE TO CENTRIFUGAL FORCE AND SHEAR STRESS 1; RECS1
read more*FIELD* TX
CLONING
Using cDNA subtractive hybridization in human umbilical vein endothelial
cells (HUVEC) to search for genes upregulated by shear stress, Yoshisue
et al. (2002) cloned TMBIM1, which they called RECS1. Zhao et al. (2006)
determined that the 311-amino acid protein has a calculated molecular
mass of 34.6 kD. Western blot analysis of HUVEC and smooth muscle cells
detected RECS1 at an apparent molecular mass of 30 kD.
Fluorescence-tagged RECS1 was expressed in endosomal and lysosomal
membranes.
Zhao et al. (2006) cloned mouse Tmbim1. The 309-amino acid protein has a
100-amino acid N-terminal proline- and glycine-rich domain followed by 7
transmembrane domains. The N-terminal domain also contains a PPxY motif
within a potential PEST sequence and has several PxxP motifs. There is a
minimal consensus SUMO acceptor site between transmembrane domains 4 and
5. Northern blot analysis detected mouse Recs1 in most tissues except
for thymus, spleen, and testis. RT-PCR also detected Recs1 in murine
fibroblasts and white blood cells.
GENE FUNCTION
Zhao et al. (2006) showed that Recs1-null mouse aortic smooth muscle
cells had higher levels of active and pro-Mmp9 (120361) compared to
wildtype cells, but Mmp2 (120360) protein levels were equivalent in
these cells. They suggested that RECS1 is a negative regulator of aortic
MMP9 production.
GENE STRUCTURE
Zhao et al. (2006) determined that the mouse Tmbim1 gene contains 11
exons and spans about 7.2 kb.
MAPPING
The International Radiation Hybrid Mapping Consortium mapped the TMBIM1
gene to chromosome 2 (TMAP RH12007).
ANIMAL MODEL
Zhao et al. (2006) found Recs1-knockout mice were born at an expected
mendelian frequency, were fertile, and appeared normal. However, mice
over 14 months of age developed cystic medial degeneration (CMD) as
evidenced by overt thoracic aortic media degeneration and acidic
mucopolysaccharide deposition. Lesions were not associated with
inflammatory changes.
Using Western blot analysis and gelatin zymography, Zhao et al. (2006)
found that CMD and aortic dilation in aged Recs1-knockout mice were
associated with increased levels of active Mmp9 and Mmp2.
*FIELD* RF
1. Yoshisue, H.; Suzuki, K.; Kawabata, A.; Ohya, T.; Zhao, H.; Sakurada,
K.; Taba, Y.; Sasguri, T.; Sakai, N.; Yamashita, S.; Matsuzawa, Y.;
Nojima, H.: Large scale isolation of non-uniform shear stress-responsive
genes from cultured endothelial cells through the preparation of a
subtracted cDNA library. Atherosclerosis 162: 323-334, 2002.
2. Zhao, H.; Ito, A.; Kimura, S. H.; Yabuta, N.; Sakai, N.; Ikawa,
M.; Okabe, M.; Matsuzawa, Y.; Yamashita, S.; Nojima, H.: RECS1 deficiency
in mice induces susceptibility to cystic medial degeneration. Genes
Genet. Syst. 81: 41-50, 2006.
3. Zhao, H.; Ito, A.; Sakai, N.; Matsuzawa, Y.; Yamashita, S.; Nojima,
H.: RECS1 is a negative regulator of matrix metalloproteinase-9 production
and aged RECS1 knockout mice are prone to aortic dilation. Circ.
J. 70: 615-624, 2006.
*FIELD* CD
Patricia A. Hartz: 8/30/2006
*FIELD* ED
wwang: 08/30/2006
wwang: 8/30/2006