ID   LFG3_HUMAN              Reviewed;         311 AA.
AC   Q969X1; B3KQY6; Q8N1R3; Q8TAM3; Q96K13;
DT   21-NOV-2003, integrated into UniProtKB/Swiss-Prot.
DT   07-MAR-2006, sequence version 2.
DT   24-JAN-2024, entry version 166.
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; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   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., 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   [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., Qiu X.,
RA   Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.,
RA   Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., 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-length
RT   human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA
RT   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., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., 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 project:
RT   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).
RN   [9]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-83, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Erythroleukemia;
RX   PubMed=23186163; DOI=10.1021/pr300630k;
RA   Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA   Mohammed S.;
RT   "Toward a comprehensive characterization of a human cancer cell
RT   phosphoproteome.";
RL   J. Proteome Res. 12:260-271(2013).
CC   -!- FUNCTION: Negatively regulates aortic matrix metalloproteinase-9 (MMP9)
CC       production and may play a protective role in vascular remodeling.
CC   -!- INTERACTION:
CC       Q969X1; Q8NCR0: B3GALNT2; NbExp=3; IntAct=EBI-2820569, EBI-12934759;
CC       Q969X1; Q13323: BIK; NbExp=3; IntAct=EBI-2820569, EBI-700794;
CC       Q969X1; P20138: CD33; NbExp=3; IntAct=EBI-2820569, EBI-3906571;
CC       Q969X1; Q6P531: GGT6; NbExp=3; IntAct=EBI-2820569, EBI-2868927;
CC       Q969X1; Q9HC23: PROK2; NbExp=3; IntAct=EBI-2820569, EBI-13045372;
CC       Q969X1; Q7Z5B4-5: RIC3; NbExp=3; IntAct=EBI-2820569, EBI-12375429;
CC       Q969X1; Q14973: SLC10A1; NbExp=3; IntAct=EBI-2820569, EBI-3923031;
CC       Q969X1; Q9NWH2: TMEM242; NbExp=3; IntAct=EBI-2820569, EBI-10315004;
CC   -!- SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane
CC       protein {ECO:0000250}. Lysosome membrane {ECO:0000269|PubMed:16607040}.
CC       Endosome membrane {ECO:0000269|PubMed:16607040}.
CC   -!- SIMILARITY: Belongs to the BI1 family. LFG subfamily. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH26693.1; Type=Frameshift; Evidence={ECO:0000305};
CC       Sequence=BAB55346.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC       Sequence=BAC11636.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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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   CCDS; CCDS2412.1; -.
DR   RefSeq; NP_001308356.1; NM_001321427.1.
DR   RefSeq; NP_001308357.1; NM_001321428.1.
DR   RefSeq; NP_001308358.1; NM_001321429.1.
DR   RefSeq; NP_001308359.1; NM_001321430.1.
DR   RefSeq; NP_001308361.1; NM_001321432.1.
DR   RefSeq; NP_001308362.1; NM_001321433.1.
DR   RefSeq; NP_001308364.1; NM_001321435.1.
DR   RefSeq; NP_001308365.1; NM_001321436.1.
DR   RefSeq; NP_071435.2; NM_022152.5.
DR   RefSeq; XP_011509929.1; XM_011511627.1.
DR   AlphaFoldDB; Q969X1; -.
DR   SMR; Q969X1; -.
DR   BioGRID; 122070; 22.
DR   IntAct; Q969X1; 18.
DR   MINT; Q969X1; -.
DR   STRING; 9606.ENSP00000409738; -.
DR   TCDB; 1.A.14.3.10; the calcium transporter a (cata) family (formerly the testis-enhanced gene transfer (tegt) family).
DR   iPTMnet; Q969X1; -.
DR   PhosphoSitePlus; Q969X1; -.
DR   SwissPalm; Q969X1; -.
DR   BioMuta; TMBIM1; -.
DR   DMDM; 93117549; -.
DR   EPD; Q969X1; -.
DR   jPOST; Q969X1; -.
DR   MassIVE; Q969X1; -.
DR   MaxQB; Q969X1; -.
DR   PaxDb; 9606-ENSP00000409738; -.
DR   PeptideAtlas; Q969X1; -.
DR   ProteomicsDB; 75867; -.
DR   Pumba; Q969X1; -.
DR   Antibodypedia; 2868; 215 antibodies from 27 providers.
DR   DNASU; 64114; -.
DR   Ensembl; ENST00000258412.8; ENSP00000258412.3; ENSG00000135926.15.
DR   Ensembl; ENST00000396809.6; ENSP00000380025.2; ENSG00000135926.15.
DR   Ensembl; ENST00000444881.5; ENSP00000409738.1; ENSG00000135926.15.
DR   GeneID; 64114; -.
DR   KEGG; hsa:64114; -.
DR   MANE-Select; ENST00000258412.8; ENSP00000258412.3; NM_022152.6; NP_071435.2.
DR   UCSC; uc002vho.2; human.
DR   AGR; HGNC:23410; -.
DR   CTD; 64114; -.
DR   DisGeNET; 64114; -.
DR   GeneCards; TMBIM1; -.
DR   HGNC; HGNC:23410; TMBIM1.
DR   HPA; ENSG00000135926; Low tissue specificity.
DR   MIM; 610364; gene.
DR   neXtProt; NX_Q969X1; -.
DR   OpenTargets; ENSG00000135926; -.
DR   PharmGKB; PA142670804; -.
DR   VEuPathDB; HostDB:ENSG00000135926; -.
DR   eggNOG; KOG2322; Eukaryota.
DR   GeneTree; ENSGT01050000244890; -.
DR   HOGENOM; CLU_058671_3_0_1; -.
DR   InParanoid; Q969X1; -.
DR   OMA; IVLCFKY; -.
DR   OrthoDB; 377780at2759; -.
DR   PhylomeDB; Q969X1; -.
DR   TreeFam; TF319996; -.
DR   PathwayCommons; Q969X1; -.
DR   Reactome; R-HSA-6798695; Neutrophil degranulation.
DR   SignaLink; Q969X1; -.
DR   BioGRID-ORCS; 64114; 12 hits in 1156 CRISPR screens.
DR   ChiTaRS; TMBIM1; human.
DR   GenomeRNAi; 64114; -.
DR   Pharos; Q969X1; Tbio.
DR   PRO; PR:Q969X1; -.
DR   Proteomes; UP000005640; Chromosome 2.
DR   RNAct; Q969X1; Protein.
DR   Bgee; ENSG00000135926; Expressed in lower esophagus mucosa and 201 other cell types or tissues.
DR   ExpressionAtlas; Q969X1; baseline and differential.
DR   GO; GO:0005783; C:endoplasmic reticulum; IBA:GO_Central.
DR   GO; GO:0010008; C:endosome membrane; IDA:UniProtKB.
DR   GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR   GO; GO:0005794; C:Golgi apparatus; IDA:UniProtKB.
DR   GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR   GO; GO:0005765; C:lysosomal membrane; IDA:UniProtKB.
DR   GO; GO:0016020; C:membrane; IBA:GO_Central.
DR   GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR   GO; GO:0035579; C:specific granule membrane; TAS:Reactome.
DR   GO; GO:0005123; F:death receptor binding; IDA:UniProtKB.
DR   GO; GO:2001234; P:negative regulation of apoptotic signaling pathway; IBA:GO_Central.
DR   GO; GO:0043086; P:negative regulation of catalytic activity; ISS:UniProtKB.
DR   GO; GO:1902042; P:negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; IMP:UniProtKB.
DR   GO; GO:1902045; P:negative regulation of Fas signaling pathway; IMP:UniProtKB.
DR   GO; GO:1903077; P:negative regulation of protein localization to plasma membrane; IMP:UniProtKB.
DR   GO; GO:2000504; P:positive regulation of blood vessel remodeling; ISS:UniProtKB.
DR   CDD; cd10428; LFG_like; 1.
DR   InterPro; IPR006214; Bax_inhibitor_1-related.
DR   PANTHER; PTHR23291; BAX INHIBITOR-RELATED; 1.
DR   PANTHER; PTHR23291:SF35; PROTEIN LIFEGUARD 3; 1.
DR   Pfam; PF01027; Bax1-I; 1.
DR   Genevisible; Q969X1; HS.
PE   1: Evidence at protein level;
KW   Endosome; Lysosome; Membrane; Phosphoprotein; Reference proteome;
KW   Transmembrane; Transmembrane helix.
FT   CHAIN           1..311
FT                   /note="Protein lifeguard 3"
FT                   /id="PRO_0000179090"
FT   TRANSMEM        110..130
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        134..154
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        165..185
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        190..210
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        221..241
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        246..266
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        286..306
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   REGION          1..37
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          50..72
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1..28
FT                   /note="Pro residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        50..65
FT                   /note="Pro residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   MOD_RES         81
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q8BJZ3"
FT   MOD_RES         83
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
FT   VARIANT         21
FT                   /note="P -> L (in dbSNP:rs2292553)"
FT                   /evidence="ECO:0000269|PubMed:14702039,
FT                   ECO:0000269|PubMed:15498874, ECO:0000269|PubMed:16303743"
FT                   /id="VAR_017382"
FT   CONFLICT        119
FT                   /note="I -> T (in Ref. 1; BAC04516)"
FT                   /evidence="ECO:0000305"
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
//