TMBIM1 Gene
protein-coding GIFtS: 46
GCID: GC02M219139
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|
transmembrane BAX inhibitor motif containing 1
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Aliases
for TMBIM1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Transmembrane BAX Inhibitor Motif Containing 11 2 | | MST1002 | | LFG31 2 3 | | MSTP1002 | | RECS11 2 3 | | Protein Lifeguard 32 | | Transmembrane BAX Inhibitor Motif-Containing Protein 12 3 | | Protein RECS1 Homolog3 | | PP12011 | | |
Export aliases for TMBIM1 gene to outside databasesPrevious GC identifers: GC02M218965 GC02M218847 GC02M210992 |
Summaries
for TMBIM1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: LFG3_HUMAN, Q969X1Function: Negatively regulates aortic matrix metalloproteinase-9 (MMP9) production and may play a protective role invascular remodeling
Gene Wiki entry for TMBIM1
|
Genomic Views
for TMBIM1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_005403.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TMBIM1 gene promoter:
Max1 AML1a Brachyury MyoD LCR-F1 MZF-1 c-Rel Pax-2b NF-kappaB1 ATF6
Other transcription factors
Search SABiosciences Chromatin IP Primers for TMBIM1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMBIM1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q35 Ensembl cytogenetic band: 2q35 HGNC cytogenetic band: 2q35TMBIM1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M219139: view genomic region
(about GC identifiers)
Start:
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219,138,915 bp from pter |
End:
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219,157,309 bp from pter |
Size:
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18,395 bases |
Orientation:
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minus strand |
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Proteins
for TMBIM1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: LFG3_HUMAN, Q969X1 (See
protein sequence)Recommended Name: Protein lifeguard 3 Size: 311 amino acids; 34607 Da
Subcellular location: Membrane; Multi-pass membrane protein (By similarity). Lysosome membrane. Endosome membrane
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-terminallyextended;
Secondary accessions: B3KQY6 Q8N1R3 Q8TAM3 Q96K13Explore the universe of human proteins at neXtProt for TMBIM1: NX_Q969X1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q969X1
TMBIM1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_071435.2
ENSEMBL proteins: ENSP00000258412 ENSP00000409738 ENSP00000401491 ENSP00000404709 ENSP00000414572 ENSP00000399987 ENSP00000399345 ENSP00000406744 ENSP00000412518 ENSP00000410136 ENSP00000410771 ENSP00000403462 ENSP00000395614 ENSP00000394946 ENSP00000405516 ENSP00000408729 ENSP00000413624 ENSP00000380025
Human Recombinant Protein Products for TMBIM1:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
TMBIM1 for ontologies About GeneDecksing
TMBIM1 Antibody Products:
Assay Products for TMBIM1: |
Protein
Domains /
Families
for TMBIM1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TMBIM1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q969X1ProtoNet protein and cluster: Q969X1 UniProtKB/Swiss-Prot: LFG3_HUMAN, Q969X1Similarity: Belongs to the BI1 family. LFG subfamily |
Function
for TMBIM1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: LFG3_HUMAN, Q969X1Function: Negatively regulates aortic matrix metalloproteinase-9 (MMP9) production and may play a protective role invascular remodelingPhenotypes:
3 GenomeRNAi human phenotypes for TMBIM1:
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TMBIM1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TMBIM1 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: TMBIM1 (NM_022152) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TMBIM1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMBIM1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMBIM1 |
|
Pathways & Interactions
for TMBIM1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMBIM1
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
2 Interacting proteins for TMBIM1 (ENSP000002584124) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for TMBIM1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for TMBIM1
Search CenterWatch for drugs/clinical trials and news about TMBIM1 / LFG3
|
Transcripts
for TMBIM1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for TMBIM1 gene: NM_022152.4 Unigene Cluster for TMBIM1: Transmembrane BAX inhibitor motif containing 1 Hs.591605 [show with all ESTs]Unigene Representative Sequence: AK09061818/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23): ENST00000258412(uc002vhp.1 uc010zjz.1 uc010zka.1) ENST00000465082
ENST00000444881(uc002vho.1) ENST00000445635 ENST00000437694 ENST00000439306
ENST00000492966 ENST00000429501 ENST00000466012 ENST00000425694 ENST00000476429
ENST00000495113 ENST00000418569 ENST00000440422 ENST00000444183 ENST00000453776
ENST00000444000 ENST00000453281
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TMBIM1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TMBIM1 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: TMBIM1 (NM_022152) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TMBIM1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMBIM1 |
Additional cDNA sequence: AB257295.1 AF173384.1 AF193045.1 AK027755.1 AK075465.1 AK090618.1 AK093911.1 AK130380.1 AK130713.1 AK298123.1 AK298500.1 AK300597.1 BC007980.2 BC013428.1 BC026348.1 BC026693.2 24/25 DOTS entries (see all 25): DT.453875 DT.100878573 DT.97857237 DT.100878577 DT.100878585 DT.100878581 DT.97860193 DT.40270711 DT.100044536 DT.120940014 DT.100878579 DT.120940020 DT.95068979 DT.100760914 DT.120939894 DT.120939899 DT.120939948 DT.120939905 DT.120939938 DT.120939947 DT.120939975 DT.95265054 DT.100726520 DT.92037678 24/625 AceView cDNA sequences (see all 625): AA668732 AA485293 AI459579 BU155642 BE740257 BE876675 AI184897 N26313 CD672873 BF380586 BM783320 AA314367 AI985350 CA308938 CA432967 BU731854 AA586936 AA489657 BP375680 CA436747 AI278235 BG403850 BM849686 CA398062
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for TMBIM1 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 |
|---|
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| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for TMBIM1
|
Expression
for TMBIM1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| TMBIM1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGCCATCTG
About this image
See TMBIM1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TMBIM1
SOURCE GeneReport for Unigene cluster: Hs.591605
SABiosciences Custom PCR Arrays for TMBIM1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TMBIM1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TMBIM1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMBIM1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMBIM1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMBIM1 |
Orthologs
for TMBIM1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for TMBIM1 gene from 5/17 species (see all 17) About this table
ENSEMBL Gene Tree for TMBIM1 (if available)
TreeFam Gene Tree for TMBIM1 (if available) |
Paralogs
for TMBIM1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for TMBIM1 gene
- TMBIM42 GRINA2 ENSG000002281442 FAIM22
4 SIMAP similar genes for TMBIM1 using alignment to 15 protein entries: LFG3_HUMAN (see all proteins):RECS1 FAIM2 TMBIM4 GRINA
TMBIM1 for paralogs About GeneDecksing
|
Genomic Variants
for TMBIM1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
| | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMBIM1 |
|
Disorders
/ Diseases
for TMBIM1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
TMBIM1 for disorders About GeneDecksing
OMIM gene information: 610364
OMIM disorders: --
3  diseases for TMBIM1: About MalaCardspharyngitis malaria neuronitis
Export disorders for TMBIM1 gene to outside databases
|
Publications
for TMBIM1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for TMBIM1 gene, integrated from 9 sources (see all 15):
(articles sorted by number of sources associating them with TMBIM1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- RECS1 deficiency in mice induces susceptibility to cystic medial degeneration. (PubMed id 16607040)1, 2 Zhao H.... Nojima H. (2006)
- Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- A shear stress responsive gene product PP1201 protect s against Fas-mediated apoptosis by reducing Fas expression on the cell surface . (PubMed id 21107705)1 Shukla S....Srinivasula S.M. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- LFG: a candidate apoptosis regulatory gene family. (PubMed id 19784873)2 Hu L....Goldberger G. (2009)
|
External Searches for TMBIM1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing TMBIM1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TMBIM1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TMBIM1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for TMBIM1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for TMBIM1 gene:
Search GeneIP for patents involving TMBIM1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for TMBIM1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
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| |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TMBIM1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMBIM1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMBIM1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMBIM1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMBIM1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMBIM1 |
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 | | | TMBIM1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMBIM1 |
|  |  |  |  | | | | Search ThermoFisher Antibodies for TMBIM1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMBIM1 |
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