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2024-04-19 15:06:30, 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
//
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
by
@meso_cacase at
DBCLS
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