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2024-04-25 16:32:35, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_016056 1831 bp mRNA linear PRI 15-JUL-2013
DEFINITION Homo sapiens transmembrane BAX inhibitor motif containing 4
(TMBIM4), mRNA.
ACCESSION NM_016056
VERSION NM_016056.2 GI:116812578
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 1831)
AUTHORS Saraiva,N., Prole,D.L., Carrara,G., Maluquer de Motes,C.,
Johnson,B.F., Byrne,B., Taylor,C.W. and Smith,G.L.
TITLE Human and viral Golgi anti-apoptotic proteins (GAAPs) oligomerize
via different mechanisms and monomeric GAAP inhibits apoptosis and
modulates calcium
JOURNAL J. Biol. Chem. 288 (18), 13057-13067 (2013)
PUBMED 23508950
REMARK GeneRIF: GAAP can oligomerize in a pH-regulated manner, and
monomeric GAAP is functional.
REFERENCE 2 (bases 1 to 1831)
AUTHORS Markkula,E., Hulkkonen,J., Penttila,T. and Puolakkainen,M.
TITLE Host cell Golgi anti-apoptotic protein (GAAP) and growth of
Chlamydia pneumoniae
JOURNAL Microb. Pathog. 54, 46-53 (2013)
PUBMED 23000903
REMARK GeneRIF: Taken together, the proposed interaction between Chlamydia
pneumoniae protein CPn0809 and GAAP modulates bacterial growth in
A549 cells.
REFERENCE 3 (bases 1 to 1831)
AUTHORS Carrara,G., Saraiva,N., Gubser,C., Johnson,B.F. and Smith,G.L.
TITLE Six-transmembrane topology for Golgi anti-apoptotic protein (GAAP)
and Bax inhibitor 1 (BI-1) provides model for the transmembrane Bax
inhibitor-containing motif (TMBIM) family
JOURNAL J. Biol. Chem. 287 (19), 15896-15905 (2012)
PUBMED 22418439
REMARK GeneRIF: Data indicate that GAAP and BI-1 have a six
membrane-spanning topology with cytosolic N and C termini and a
C-terminal reentrant loop.
REFERENCE 4 (bases 1 to 1831)
AUTHORS de Mattia,F., Gubser,C., van Dommelen,M.M., Visch,H.J.,
Distelmaier,F., Postigo,A., Luyten,T., Parys,J.B., de Smedt,H.,
Smith,G.L., Willems,P.H. and van Kuppeveld,F.J.
TITLE Human Golgi antiapoptotic protein modulates intracellular calcium
fluxes
JOURNAL Mol. Biol. Cell 20 (16), 3638-3645 (2009)
PUBMED 19553469
REMARK GeneRIF: Data demonstrate that h-GAAP modulates intracellular
Ca(2+) fluxes induced by both physiological and apoptotic stimuli.
REFERENCE 5 (bases 1 to 1831)
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 tmbim4 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 6 (bases 1 to 1831)
AUTHORS Gubser,C., Bergamaschi,D., Hollinshead,M., Lu,X., van
Kuppeveld,F.J. and Smith,G.L.
TITLE A new inhibitor of apoptosis from vaccinia virus and eukaryotes
JOURNAL PLoS Pathog. 3 (2), E17 (2007)
PUBMED 17319741
REMARK GeneRIF: Stable expression of both viral GAAP (v-GAAP) and human
GAAP (h-GAAP), which is expressed in all human tissues tested,
inhibited apoptosis induced by intrinsic and extrinsic apoptotic
stimuli
REFERENCE 7 (bases 1 to 1831)
AUTHORS Hu,R.M., Han,Z.G., Song,H.D., Peng,Y.D., Huang,Q.H., Ren,S.X.,
Gu,Y.J., Huang,C.H., Li,Y.B., Jiang,C.L., Fu,G., Zhang,Q.H.,
Gu,B.W., Dai,M., Mao,Y.F., Gao,G.F., Rong,R., Ye,M., Zhou,J.,
Xu,S.H., Gu,J., Shi,J.X., Jin,W.R., Zhang,C.K., Wu,T.M.,
Huang,G.Y., Chen,Z., Chen,M.D. and Chen,J.L.
TITLE Gene expression profiling in the human
hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 97 (17), 9543-9548 (2000)
PUBMED 10931946
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
BG534013.1, BC020613.1, AF113127.1 and AL117550.1.
On Oct 28, 2006 this sequence version replaced gi:7706334.
##Evidence-Data-START##
Transcript exon combination :: AK225158.1, AF113127.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-52 BG534013.1 2-53
53-595 BC020613.1 1-543
596-1354 AF113127.1 563-1321
1355-1831 AL117550.1 1780-2256
FEATURES Location/Qualifiers
source 1..1831
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="12"
/map="12q14.1-q15"
gene 1..1831
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/note="transmembrane BAX inhibitor motif containing 4"
/db_xref="GeneID:51643"
/db_xref="HGNC:24257"
exon 1..173
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/inference="alignment:Splign:1.39.8"
misc_feature 41..43
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/note="upstream in-frame stop codon"
CDS 77..793
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/note="transmembrane BAX inhibitor motif-containing
protein 4; Z-protein; Golgi anti-apoptotic protein"
/codon_start=1
/product="protein lifeguard 4"
/protein_id="NP_057140.2"
/db_xref="GI:116812579"
/db_xref="CCDS:CCDS41805.1"
/db_xref="GeneID:51643"
/db_xref="HGNC:24257"
/translation="
MADPDPRYPRSSIEDDFNYGSSVASATVHIRMAFLRKVYSILSLQVLLTTVTSTVFLYFESVRTFVHESPALILLFALGSLGLIFALILNRHKYPLNLYLLFGFTLLEALTVAVVVTFYDVYIILQAFILTTTVFFGLTVYTLQSKKDFSKFGAGLFALLWILCLSGFLKFFFYSEIMELVLAAAGALLFCGFIIYDTHSLMHKLSPEEYVLAAISLYLDIINLFLHLLRFLEAVNKK
"
misc_feature 92..784
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/note="Golgi antiapoptotic protein; Region: GAAP_like;
cd10429"
/db_xref="CDD:198411"
misc_feature 191..253
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9HC24.3);
transmembrane region"
misc_feature 281..343
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9HC24.3);
transmembrane region"
misc_feature 368..430
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9HC24.3);
transmembrane region"
misc_feature 437..499
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9HC24.3);
transmembrane region"
misc_feature 530..592
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9HC24.3);
transmembrane region"
misc_feature 602..664
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9HC24.3);
transmembrane region"
variation 137
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/replace="a"
/replace="g"
/db_xref="dbSNP:11550109"
exon 174..282
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/inference="alignment:Splign:1.39.8"
exon 283..388
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/inference="alignment:Splign:1.39.8"
variation 339
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/replace="c"
/replace="t"
/db_xref="dbSNP:8793"
exon 389..422
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/inference="alignment:Splign:1.39.8"
exon 423..540
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/inference="alignment:Splign:1.39.8"
exon 541..586
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/inference="alignment:Splign:1.39.8"
exon 587..1816
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/inference="alignment:Splign:1.39.8"
STS 618..777
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/standard_name="RH78838"
/db_xref="UniSTS:50680"
STS 654..786
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/standard_name="D12S2109"
/db_xref="UniSTS:77334"
variation 839
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
/replace="c"
/replace="t"
/db_xref="dbSNP:1185629"
polyA_signal 1797..1802
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
polyA_site 1811
/gene="TMBIM4"
/gene_synonym="CGI-119; GAAP; LFG4; S1R; ZPRO"
ORIGIN
gggctcttcctcgcggaagtggggaggaggcggttgcggttagtggaccgggaccggtaggggtgctgttgccatcatggctgaccccgacccccggtaccctcgctcctcgatcgaggacgacttcaactatggcagcagcgtggcctccgccaccgtgcacatccgaatggcctttctgagaaaagtctacagcattctttctctgcaggttctcttaactacagtgacttcaacagtttttttatactttgagtctgtacggacatttgtacatgagagtcctgccttaattttgctgtttgccctcggatctctgggtttgatttttgcgttgattttaaacagacataagtatccccttaacctgtacctactttttggatttacgctgttggaagctctgactgtggcagttgttgttactttctatgatgtatatattattctgcaagctttcatactgactactacagtattttttggtttgactgtgtatactctacaatctaagaaggatttcagcaaatttggagcagggctgtttgctcttttgtggatattgtgcctgtcaggattcttgaagttttttttttatagtgagataatggagttggtcttagccgctgcaggagcccttcttttctgtggattcatcatctatgacacacactcactgatgcataaactgtcacctgaagagtacgtattagctgccatcagcctctacttggatatcatcaatctattcctgcacctgttacggtttctggaagcagttaataaaaagtaattaaaagtatctcagctcaactgaagaacaacaaaaaaaatttaacgagaaaaaaggattaaagtaattggaagcagtatatagaaactgtttcattaagtaataaagtttgaaacaatgattaaatactgttacaatctttatttgtatcatatgtaattttgagagctttaaaatcttactattctttatgatacctcatttctaaatccttgatttaggatctcagttaagagctatcaaaattctattaaaaatgcttttctggctgggcacagtggctcacgcctgtaatcccaccactttgggagaccgaggcaggtggatcacgaggtcaagaggttgagaccatcctggccaacatggtgaaaccccgtctctactaaaaatacaaaaattagctggatgtggtggcacacacctgtagtcccagctagtcaagaggctgaggccagagaatcgcttgaacctgggaggtggaggttgcattgagccaagatcacgccactgcattccagcctggtgacagagcgagactcagtctcaaaaaaaaaaaaaaaatttttcttcctaaattagccacgcatagcggttcgtttgcaattcaaaaataattttatgagtagataagaatatcagtttaccgttgtctagtgattttatctaaattttccctgaattattaagtaatattgatttggctttgattctgaagtagtagagtctttaccattataaactgtaaatctctttttgcttaaaaggaaaaaaatgtaaaagataaattccacagagaattattcagtattacattaaaatgttaatgactttttattttaaattgtactaacattaaaagttggcctgaaagtcagatattatgacaaaatttgacattaattgtttttaaagtatagatttcatttgaaattatagaatggtaatgtggttagaggacaccaaagatactgggtcatcagccattaagtatatctatttcaaaattaaaatatttgggaagtaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:51643 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:51643 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:51643 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IMP
GeneID:51643 -> Biological process: GO:0050848 [regulation of calcium-mediated signaling] evidence: IDA
GeneID:51643 -> Cellular component: GO:0000139 [Golgi membrane] evidence: IEA
GeneID:51643 -> Cellular component: GO:0005795 [Golgi stack] evidence: IDA
GeneID:51643 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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