Human Gene TMBIM1 (uc002vhp.1) Description and Page Index
  Description: Homo sapiens transmembrane BAX inhibitor motif containing 1 (TMBIM1), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr2:219,138,917-219,157,280 Size: 18,364 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr2:219,140,198-219,146,864 Size: 6,667 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr2:219,138,917-219,157,280)mRNA (may differ from genome)Protein (311 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Protein lifeguard 3; AltName: Full=Protein RECS1 homolog; AltName: Full=Transmembrane BAX inhibitor motif-containing protein 1;
FUNCTION: Negatively regulates aortic matrix metalloproteinase-9 (MMP9) production and may play a protective role in vascular remodeling.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (By similarity). Lysosome membrane. Endosome membrane.
SIMILARITY: Belongs to the BI1 family. LFG subfamily.
SEQUENCE CAUTION: Sequence=AAH26693.1; Type=Frameshift; Positions=6; Sequence=BAB55346.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC11636.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 128.83 RPKM in Esophagus - Mucosa
Total median expression: 2985.60 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -62.70132-0.475 Picture PostScript Text
3' UTR -497.301281-0.388 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006214 - Bax_inhibitor_1-related

Pfam Domains:
PF01027 - Inhibitor of apoptosis-promoting Bax1

ModBase Predicted Comparative 3D Structure on Q969X1
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005123 death receptor binding

Biological Process:
GO:0043086 negative regulation of catalytic activity
GO:0043312 neutrophil degranulation
GO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:1902045 negative regulation of Fas signaling pathway
GO:1903077 negative regulation of protein localization to plasma membrane
GO:2000504 positive regulation of blood vessel remodeling

Cellular Component:
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005768 endosome
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0035579 specific granule membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular exosome

-  Descriptions from all associated GenBank mRNAs
  BC007980 - Homo sapiens transmembrane BAX inhibitor motif containing 1, mRNA (cDNA clone MGC:16253 IMAGE:3689664), complete cds.
AF193045 - Homo sapiens PP1201 mRNA, complete cds.
BC026348 - Homo sapiens transmembrane BAX inhibitor motif containing 1, mRNA (cDNA clone MGC:26792 IMAGE:4792398), complete cds.
BC026693 - Homo sapiens transmembrane BAX inhibitor motif containing 1, mRNA (cDNA clone IMAGE:3845817), partial cds.
BC013428 - Homo sapiens transmembrane BAX inhibitor motif containing 1, mRNA (cDNA clone MGC:10113 IMAGE:3899632), complete cds.
LF205246 - JP 2014500723-A/12749: Polycomb-Associated Non-Coding RNAs.
AK095270 - Homo sapiens cDNA FLJ37951 fis, clone CTONG2009257, weakly similar to Rattus norvegicus neural membrane protein 35 mRNA.
AK130713 - Homo sapiens cDNA FLJ27203 fis, clone SYN03168.
AK130380 - Homo sapiens cDNA FLJ26870 fis, clone PRS08714.
LF213695 - JP 2014500723-A/21198: Polycomb-Associated Non-Coding RNAs.
AK298500 - Homo sapiens cDNA FLJ54055 complete cds, highly similar to Transmembrane BAX inhibitor motif-containing protein 1.
AK298123 - Homo sapiens cDNA FLJ53633 complete cds, highly similar to Transmembrane BAX inhibitor motif-containing protein 1.
AK300597 - Homo sapiens cDNA FLJ53658 complete cds, highly similar to Transmembrane BAX inhibitor motif-containing protein 1.
MA440823 - JP 2018138019-A/12749: Polycomb-Associated Non-Coding RNAs.
MA449272 - JP 2018138019-A/21198: Polycomb-Associated Non-Coding RNAs.
LF318574 - JP 2014500723-A/126077: Polycomb-Associated Non-Coding RNAs.
AF173384 - Homo sapiens MSTP100 (MST100) mRNA, complete cds.
AK075465 - Homo sapiens cDNA PSEC0158 fis, clone PLACE1008738, moderately similar to PP1201 protein.
AK027755 - Homo sapiens cDNA FLJ14849 fis, clone PLACE1000611, weakly similar to Rattus norvegicus neural membrane protein 35 mRNA.
AK093911 - Homo sapiens cDNA FLJ36592 fis, clone TRACH2014046, highly similar to Transmembrane BAX inhibitor motif-containing protein 1.
AB257295 - Homo sapiens RECS1 mRNA for responsive to centrifugal force and shear stress gene 1, complete cds.
AK090618 - Homo sapiens cDNA FLJ33299 fis, clone BNGH42001724, highly similar to Transmembrane BAX inhibitor motif-containing protein 1.
LF318575 - JP 2014500723-A/126078: Polycomb-Associated Non-Coding RNAs.
JD259227 - Sequence 240251 from Patent EP1572962.
JD376861 - Sequence 357885 from Patent EP1572962.
JD122632 - Sequence 103656 from Patent EP1572962.
LF318576 - JP 2014500723-A/126079: Polycomb-Associated Non-Coding RNAs.
JD469236 - Sequence 450260 from Patent EP1572962.
JD521625 - Sequence 502649 from Patent EP1572962.
JD440845 - Sequence 421869 from Patent EP1572962.
LF318577 - JP 2014500723-A/126080: Polycomb-Associated Non-Coding RNAs.
JD019874 - Sequence 898 from Patent EP1572962.
JD035147 - Sequence 16171 from Patent EP1572962.
JD253200 - Sequence 234224 from Patent EP1572962.
JD316928 - Sequence 297952 from Patent EP1572962.
JD115302 - Sequence 96326 from Patent EP1572962.
JD201908 - Sequence 182932 from Patent EP1572962.
JD539136 - Sequence 520160 from Patent EP1572962.
JD378486 - Sequence 359510 from Patent EP1572962.
JD187898 - Sequence 168922 from Patent EP1572962.
JD333897 - Sequence 314921 from Patent EP1572962.
JD508644 - Sequence 489668 from Patent EP1572962.
JD064211 - Sequence 45235 from Patent EP1572962.
JD387158 - Sequence 368182 from Patent EP1572962.
JD487034 - Sequence 468058 from Patent EP1572962.
JD113671 - Sequence 94695 from Patent EP1572962.
JD321299 - Sequence 302323 from Patent EP1572962.
LF318578 - JP 2014500723-A/126081: Polycomb-Associated Non-Coding RNAs.
JD061372 - Sequence 42396 from Patent EP1572962.
JD146264 - Sequence 127288 from Patent EP1572962.
JD219271 - Sequence 200295 from Patent EP1572962.
JD477165 - Sequence 458189 from Patent EP1572962.
JD563547 - Sequence 544571 from Patent EP1572962.
JD488382 - Sequence 469406 from Patent EP1572962.
JD445795 - Sequence 426819 from Patent EP1572962.
JD507554 - Sequence 488578 from Patent EP1572962.
JD361546 - Sequence 342570 from Patent EP1572962.
JD288783 - Sequence 269807 from Patent EP1572962.
JD525636 - Sequence 506660 from Patent EP1572962.
JD139382 - Sequence 120406 from Patent EP1572962.
JD287334 - Sequence 268358 from Patent EP1572962.
JD191016 - Sequence 172040 from Patent EP1572962.
LF318579 - JP 2014500723-A/126082: Polycomb-Associated Non-Coding RNAs.
DQ890999 - Synthetic construct clone IMAGE:100003629; FLH168393.01X; RZPDo839G0492D transmembrane BAX inhibitor motif containing 1 (TMBIM1) gene, encodes complete protein.
KJ899442 - Synthetic construct Homo sapiens clone ccsbBroadEn_08836 TMBIM1 gene, encodes complete protein.
KJ906293 - Synthetic construct Homo sapiens clone ccsbBroadEn_15963 TMBIM1 gene, encodes complete protein.
DQ893782 - Synthetic construct Homo sapiens clone IMAGE:100008242; FLH168389.01L; RZPDo839G0491D transmembrane BAX inhibitor motif containing 1 (TMBIM1) gene, encodes complete protein.
LF318580 - JP 2014500723-A/126083: Polycomb-Associated Non-Coding RNAs.
CU680610 - Synthetic construct Homo sapiens gateway clone IMAGE:100020691 5' read TMBIM1 mRNA.
JD390410 - Sequence 371434 from Patent EP1572962.
JD489509 - Sequence 470533 from Patent EP1572962.
MA554151 - JP 2018138019-A/126077: Polycomb-Associated Non-Coding RNAs.
MA554152 - JP 2018138019-A/126078: Polycomb-Associated Non-Coding RNAs.
MA554153 - JP 2018138019-A/126079: Polycomb-Associated Non-Coding RNAs.
MA554154 - JP 2018138019-A/126080: Polycomb-Associated Non-Coding RNAs.
MA554155 - JP 2018138019-A/126081: Polycomb-Associated Non-Coding RNAs.
MA554156 - JP 2018138019-A/126082: Polycomb-Associated Non-Coding RNAs.
MA554157 - JP 2018138019-A/126083: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q969X1 (Reactome details) participates in the following event(s):

R-HSA-6799350 Exocytosis of specific granule membrane proteins
R-HSA-6798695 Neutrophil degranulation
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: B3KQY6, LFG3, LFG3_HUMAN, NM_022152, NP_071435, PP1201, PSEC0158, Q8N1R3, Q8TAM3, Q969X1, Q96K13, RECS1
UCSC ID: uc002vhp.1
RefSeq Accession: NM_022152
Protein: Q969X1 (aka LFG3_HUMAN)
CCDS: CCDS2412.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_022152.4
exon count: 12CDS single in 3' UTR: no RNA size: 2375
ORF size: 936CDS single in intron: no Alignment % ID: 99.91
txCdsPredict score: 2072.00frame shift in genome: no % Coverage: 98.91
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.