2024-04-19 11:50:10, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_022152 2375 bp mRNA linear PRI 15-JUN-2013 DEFINITION Homo sapiens transmembrane BAX inhibitor motif containing 1 (TMBIM1), mRNA. ACCESSION NM_022152 VERSION NM_022152.4 GI:50593007 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2375) AUTHORS Jostins,L., Ripke,S., Weersma,R.K., Duerr,R.H., McGovern,D.P., Hui,K.Y., Lee,J.C., Schumm,L.P., Sharma,Y., Anderson,C.A., Essers,J., Mitrovic,M., Ning,K., Cleynen,I., Theatre,E., Spain,S.L., Raychaudhuri,S., Goyette,P., Wei,Z., Abraham,C., Achkar,J.P., Ahmad,T., Amininejad,L., Ananthakrishnan,A.N., Andersen,V., Andrews,J.M., Baidoo,L., Balschun,T., Bampton,P.A., Bitton,A., Boucher,G., Brand,S., Buning,C., Cohain,A., Cichon,S., D'Amato,M., De Jong,D., Devaney,K.L., Dubinsky,M., Edwards,C., Ellinghaus,D., Ferguson,L.R., Franchimont,D., Fransen,K., Gearry,R., Georges,M., Gieger,C., Glas,J., Haritunians,T., Hart,A., Hawkey,C., Hedl,M., Hu,X., Karlsen,T.H., Kupcinskas,L., Kugathasan,S., Latiano,A., Laukens,D., Lawrance,I.C., Lees,C.W., Louis,E., Mahy,G., Mansfield,J., Morgan,A.R., Mowat,C., Newman,W., Palmieri,O., Ponsioen,C.Y., Potocnik,U., Prescott,N.J., Regueiro,M., Rotter,J.I., Russell,R.K., Sanderson,J.D., Sans,M., Satsangi,J., Schreiber,S., Simms,L.A., Sventoraityte,J., Targan,S.R., Taylor,K.D., Tremelling,M., Verspaget,H.W., De Vos,M., Wijmenga,C., Wilson,D.C., Winkelmann,J., Xavier,R.J., Zeissig,S., Zhang,B., Zhang,C.K., Zhao,H., Silverberg,M.S., Annese,V., Hakonarson,H., Brant,S.R., Radford-Smith,G., Mathew,C.G., Rioux,J.D., Schadt,E.E., Daly,M.J., Franke,A., Parkes,M., Vermeire,S., Barrett,J.C. and Cho,J.H. CONSRTM International IBD Genetics Consortium (IIBDGC) TITLE Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease JOURNAL Nature 491 (7422), 119-124 (2012) PUBMED 23128233 REFERENCE 2 (bases 1 to 2375) AUTHORS Shukla,S., Fujita,K., Xiao,Q., Liao,Z., Garfield,S. and Srinivasula,S.M. TITLE A shear stress responsive gene product PP1201 protects against Fas-mediated apoptosis by reducing Fas expression on the cell surface JOURNAL Apoptosis 16 (2), 162-173 (2011) PUBMED 21107705 REMARK GeneRIF: data suggest that PP1201 functions as an anti-apoptotic protein and its increased expression in vascular cells can contribute to homeostasis by reducing Fas trafficking to the cell membrane REFERENCE 3 (bases 1 to 2375) AUTHORS Zhou,J., Zhu,T., Hu,C., Li,H., Chen,G., Xu,G., Wang,S., Zhou,J. and Ma,D. TITLE Comparative genomics and function analysis on BI1 family JOURNAL Comput Biol Chem 32 (3), 159-162 (2008) PUBMED 18440869 REMARK GeneRIF: The tmbim1 may participate in cell death regulation by interacting with proteins of Bcl-2 family, promoting tumor metastasis, which is deduced from the evolutionary conservation of the membrane protein family containing multiple membrane spanning segments REFERENCE 4 (bases 1 to 2375) AUTHORS Zhao,H., Ito,A., Sakai,N., Matsuzawa,Y., Yamashita,S. and Nojima,H. TITLE RECS1 is a negative regulator of matrix metalloproteinase-9 production and aged RECS1 knockout mice are prone to aortic dilation JOURNAL Circ. J. 70 (5), 615-624 (2006) PUBMED 16636500 REFERENCE 5 (bases 1 to 2375) AUTHORS Zhao,H., Ito,A., Kimura,S.H., Yabuta,N., Sakai,N., Ikawa,M., Okabe,M., Matsuzawa,Y., Yamashita,S. and Nojima,H. TITLE RECS1 deficiency in mice induces susceptibility to cystic medial degeneration JOURNAL Genes Genet. Syst. 81 (1), 41-50 (2006) PUBMED 16607040 REFERENCE 6 (bases 1 to 2375) AUTHORS Wan,D., Gong,Y., Qin,W., Zhang,P., Li,J., Wei,L., Zhou,X., Li,H., Qiu,X., Zhong,F., He,L., Yu,J., Yao,G., Jiang,H., Qian,L., Yu,Y., Shu,H., Chen,X., Xu,H., Guo,M., Pan,Z., Chen,Y., Ge,C., Yang,S. and Gu,J. TITLE Large-scale cDNA transfection screening for genes related to cancer development and progression JOURNAL Proc. Natl. Acad. Sci. U.S.A. 101 (44), 15724-15729 (2004) PUBMED 15498874 REMARK Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565] REFERENCE 7 (bases 1 to 2375) AUTHORS Hwang,K.C., Cui,X.S., Park,S.P., Shin,M.R., Park,S.Y., Kim,E.Y. and Kim,N.H. TITLE Identification of differentially regulated genes in bovine blastocysts using an annealing control primer system JOURNAL Mol. Reprod. Dev. 69 (1), 43-51 (2004) PUBMED 15278903 REFERENCE 8 (bases 1 to 2375) AUTHORS Yoshisue,H., Suzuki,K., Kawabata,A., Ohya,T., Zhao,H., Sakurada,K., Taba,Y., Sasaguri,T., Sakai,N., Yamashita,S., Matsuzawa,Y. and Nojima,H. TITLE Large scale isolation of non-uniform shear stress-responsive genes from cultured human endothelial cells through the preparation of a subtracted cDNA library JOURNAL Atherosclerosis 162 (2), 323-334 (2002) PUBMED 11996952 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CD514853.1, BX471120.1, BC026693.2, CF994144.1, CA488388.1, AK093911.1, BC007980.2 and AF193045.1. On Jul 26, 2004 this sequence version replaced gi:34147460. ##Evidence-Data-START## Transcript exon combination :: BC007980.2, BC013428.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-92 CD514853.1 12-103 93-272 BX471120.1 77-256 273-368 BC026693.2 239-334 369-370 CF994144.1 351-352 371-1692 BC026693.2 337-1658 1693-1694 CA488388.1 829-830 1695-2342 AK093911.1 2227-2874 2343-2369 BC007980.2 2277-2303 2370-2375 AF193045.1 2304-2309 FEATURES Location/Qualifiers source 1..2375 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2q35" gene 1..2375 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /note="transmembrane BAX inhibitor motif containing 1" /db_xref="GeneID:64114" /db_xref="HGNC:23410" /db_xref="HPRD:17884" /db_xref="MIM:610364" exon 1..92 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /inference="alignment:Splign:1.39.8" exon 93..334 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /inference="alignment:Splign:1.39.8" misc_feature 124..126 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /note="upstream in-frame stop codon" CDS 133..1068 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /note="transmembrane BAX inhibitor motif-containing protein 1" /codon_start=1 /product="protein lifeguard 3" /protein_id="NP_071435.2" /db_xref="GI:50593008" /db_xref="CCDS:CCDS2412.1" /db_xref="GeneID:64114" /db_xref="HGNC:23410" /db_xref="HPRD:17884" /db_xref="MIM:610364" /translation="
MSNPSAPPPYEDRNPLYPGPPPPGGYGQPSVLPGGYPAYPGYPQPGYGHPAGYPQPMPPTHPMPMNYGPGHGYDGEERAVSDSFGPGEWDDRKVRHTFIRKVYSIISVQLLITVAIIAIFTFVEPVSAFVRRNVAVYYVSYAVFVVTYLILACCQGPRRRFPWNIILLTLFTFAMGFMTGTISSMYQTKAVIIAMIITAVVSISVTIFCFQTKVDFTSCTGLFCVLGIVLLVTGIVTSIVLYFQYVYWLHMLYAALGAICFTLFLAYDTQLVLGNRKHTISPEDYITGALQIYTDIIYIFTFVLQLMGDRN
" misc_feature 397..1056 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /note="Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis; Region: LFG_like; cd10428" /db_xref="CDD:198410" misc_feature 460..522 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q969X1.2); transmembrane region" misc_feature 532..594 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q969X1.2); transmembrane region" misc_feature 625..687 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q969X1.2); transmembrane region" misc_feature 700..762 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q969X1.2); transmembrane region" misc_feature 793..855 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q969X1.2); transmembrane region" misc_feature 868..930 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q969X1.2); transmembrane region" misc_feature 988..1050 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q969X1.2); transmembrane region" exon 335..435 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /inference="alignment:Splign:1.39.8" exon 436..500 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /inference="alignment:Splign:1.39.8" exon 501..554 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /inference="alignment:Splign:1.39.8" exon 555..605 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /inference="alignment:Splign:1.39.8" exon 606..645 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /inference="alignment:Splign:1.39.8" exon 646..683 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /inference="alignment:Splign:1.39.8" exon 684..771 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /inference="alignment:Splign:1.39.8" exon 772..867 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /inference="alignment:Splign:1.39.8" exon 868..921 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /inference="alignment:Splign:1.39.8" exon 922..2349 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /inference="alignment:Splign:1.39.8" variation 1128 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /replace="c" /replace="t" /db_xref="dbSNP:11552008" STS 1398..1547 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /standard_name="WI-17411" /db_xref="UniSTS:49661" STS 1503..1633 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /standard_name="RH78114" /db_xref="UniSTS:25927" STS 1721..1905 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /standard_name="RH80510" /db_xref="UniSTS:86596" variation 1778 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /replace="a" /replace="g" /db_xref="dbSNP:11552007" STS 2061..2313 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /standard_name="RH41829" /db_xref="UniSTS:52062" STS 2095..2224 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /standard_name="RH12007" /db_xref="UniSTS:31236" STS 2113..2246 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /standard_name="RH68260" /db_xref="UniSTS:54346" variation 2296 /gene="TMBIM1" /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1" /replace="a" /replace="c" /db_xref="dbSNP:1060365" ORIGIN
gggcgcggagccccagccgagcctagccctgcccggccccggaggacttgcaacactccgaggccaggaacgctccgtctggaacggcgcaggtcccagcagctggggttccccctcagcccgtgagcagccatgtccaaccccagcgccccaccaccatatgaagaccgcaaccccctgtacccaggccctccgccccctgggggctatgggcagccatctgtcctgccaggagggtatcctgcctaccctggctacccgcagcctggctacggtcaccctgctggctacccacagcccatgccccccacccacccgatgcccatgaactacggcccaggccatggctatgatggggaggagagagcggtgagtgatagcttcgggcctggagagtgggatgaccggaaagtgcgacacacttttatccgaaaggtttactccatcatctccgtgcagctgctcatcactgtggccatcattgctatcttcacctttgtggaacctgtcagcgcctttgtgaggagaaatgtggctgtctactacgtgtcctatgctgtcttcgttgtcacctacctgatccttgcctgctgccagggacccagacgccgtttcccatggaacatcattctgctgaccctttttacttttgccatgggcttcatgacgggcaccatttccagtatgtaccaaaccaaagccgtcatcattgcaatgatcatcactgcggtggtatccatttcagtcaccatcttctgctttcagaccaaggtggacttcacctcgtgcacaggcctcttctgtgtcctgggaattgtgctcctggtgactgggattgtcactagcattgtgctctacttccaatacgtttactggctccacatgctctatgctgctctgggggccatttgtttcaccctgttcctggcttacgacacacagctggtcctggggaaccggaagcacaccatcagccccgaggactacatcactggcgccctgcagatttacacagacatcatctacatcttcacctttgtgctgcagctgatgggggatcgcaattaaggagcaagcccccattttcacccgatcctgggctctcccttccaagctagagggctgggccctatgactgtggtctgggctttaggcccctttccttccccttgagtaacatgcccagtttcctttctgtcctggagacaggtggcctctctggctatggatgtgtgggtacttggtggggacggaggagctagggactaactgttgctcttggtgggcttggcagggactaggctgaagatgtgtcttctccccgccacctactgtatgacaccacattcttcctaacagctggggttgtgaggaatatgaaaagagcctattcgatagctagaagggaatatgaaaggtagaagtgacttcaaggtcacgaggttcccctcccacctctgtcacaggcttcttgactacgtagttggagctatttcttcccccagcaaagccagagagctttgtccccggcctcctggacacataggccattatcctgtattcctttggcttggcatcttttagctcaggaaggtagaagagatctgtgcccatgggtctccttgcttcaatcccttcttgtttcagtgacatatgtattgtttatctgggttagggatgggggacagataatagaacgagcaaagtaacctatacaggccagcatggaacagcatctcccctgggcttgctcctggcttgtgacgctataagacagagcaggccacatgtggccatctgctccccattcttgaaagctgctggggcctccttgcaggcttctggatctctggtcagagtgaactcttgcttcctgtattcaggcagctcagagcagaaagtaaggggcagagtcatacgtgtggccaggaagtagccagggtgaagagagactcggtgcgggcagggagaatgcctgggggtccctcacctggctagggagataccgaagcctactgtggtactgaagacttctgggttctttccttctgctaacccagggagggtcctaagaggaaggtgacttctctctgtttgtcttaagttgcactgggggatttctgacttgaggcccatctctccagccagccactgccttctttgtaatattaagtgccttgagctggaatggggaagggggacaagggtcagtctgtcgggtgggggcagaaatcaaatcagcccaaggatatagttaggattaattacttaatagagaaatcctaactatatcacacaaagggatacaactataaatgtaataaagtttatgtctagaagttaaaacccaaaaaaaaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:64114 -> Cellular component: GO:0005765 [lysosomal membrane] evidence: IDA GeneID:64114 -> Cellular component: GO:0010008 [endosome membrane] evidence: IDA GeneID:64114 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
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