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Aliases for TMBIM1 Gene

Aliases for TMBIM1 Gene

  • Transmembrane BAX Inhibitor Motif Containing 1 2 3 5
  • Transmembrane BAX Inhibitor Motif-Containing Protein 1 3 4
  • RECS1 3 4
  • LFG3 3 4
  • Protein RECS1 Homolog 4
  • MSTP100 3
  • MST100 3
  • PP1201 3

External Ids for TMBIM1 Gene

Previous GeneCards Identifiers for TMBIM1 Gene

  • GC02M218965
  • GC02M218847
  • GC02M219139
  • GC02M210992

Summaries for TMBIM1 Gene

GeneCards Summary for TMBIM1 Gene

TMBIM1 (Transmembrane BAX Inhibitor Motif Containing 1) is a Protein Coding gene. GO annotations related to this gene include death receptor binding. An important paralog of this gene is FAIM2.

UniProtKB/Swiss-Prot for TMBIM1 Gene

  • Negatively regulates aortic matrix metalloproteinase-9 (MMP9) production and may play a protective role in vascular remodeling.

Gene Wiki entry for TMBIM1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMBIM1 Gene

Genomics for TMBIM1 Gene

Regulatory Elements for TMBIM1 Gene

Enhancers for TMBIM1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TMBIM1 on UCSC Golden Path with GeneCards custom track

Promoters for TMBIM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TMBIM1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMBIM1 Gene

Chromosome:
2
Start:
218,274,192 bp from pter
End:
218,292,586 bp from pter
Size:
18,395 bases
Orientation:
Minus strand

Genomic View for TMBIM1 Gene

Genes around TMBIM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMBIM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMBIM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMBIM1 Gene

Proteins for TMBIM1 Gene

  • Protein details for TMBIM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969X1-LFG3_HUMAN
    Recommended name:
    Protein lifeguard 3
    Protein Accession:
    Q969X1
    Secondary Accessions:
    • B3KQY6
    • Q8N1R3
    • Q8TAM3
    • Q96K13

    Protein attributes for TMBIM1 Gene

    Size:
    311 amino acids
    Molecular mass:
    34607 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH26693.1; Type=Frameshift; Positions=6; Evidence={ECO:0000305}; Sequence=BAB55346.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC11636.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for TMBIM1 Gene

Proteomics data for TMBIM1 Gene at MOPED

Post-translational modifications for TMBIM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TMBIM1 Gene

Domains & Families for TMBIM1 Gene

Gene Families for TMBIM1 Gene

Protein Domains for TMBIM1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q969X1

UniProtKB/Swiss-Prot:

LFG3_HUMAN :
  • Belongs to the BI1 family. LFG subfamily.
Family:
  • Belongs to the BI1 family. LFG subfamily.
genes like me logo Genes that share domains with TMBIM1: view

Function for TMBIM1 Gene

Molecular function for TMBIM1 Gene

UniProtKB/Swiss-Prot Function:
Negatively regulates aortic matrix metalloproteinase-9 (MMP9) production and may play a protective role in vascular remodeling.
genes like me logo Genes that share phenotypes with TMBIM1: view

Animal Models for TMBIM1 Gene

MGI Knock Outs for TMBIM1:

Animal Model Products

CRISPR Products

miRNA for TMBIM1 Gene

miRTarBase miRNAs that target TMBIM1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMBIM1 Gene

Localization for TMBIM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMBIM1 Gene

Membrane; Multi-pass membrane protein. Lysosome membrane. Endosome membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMBIM1 Gene COMPARTMENTS Subcellular localization image for TMBIM1 gene
Compartment Confidence
endosome 5
extracellular 5
golgi apparatus 5
lysosome 5
vacuole 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for TMBIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 16607040
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with TMBIM1: view

Pathways & Interactions for TMBIM1 Gene

SuperPathways for TMBIM1 Gene

No Data Available

Interacting Proteins for TMBIM1 Gene

Gene Ontology (GO) - Biological Process for TMBIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IMP 21107705
GO:1902045 negative regulation of Fas signaling pathway IMP 21107705
genes like me logo Genes that share ontologies with TMBIM1: view

No data available for Pathways by source and SIGNOR curated interactions for TMBIM1 Gene

Drugs & Compounds for TMBIM1 Gene

No Compound Related Data Available

Transcripts for TMBIM1 Gene

Unigene Clusters for TMBIM1 Gene

Transmembrane BAX inhibitor motif containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMBIM1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1:
SP2: -
SP3: -
SP4: -
SP5: - -

Relevant External Links for TMBIM1 Gene

GeneLoc Exon Structure for
TMBIM1
ECgene alternative splicing isoforms for
TMBIM1

Expression for TMBIM1 Gene

mRNA expression in normal human tissues for TMBIM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMBIM1 Gene

This gene is overexpressed in Platelet (9.5), Adipocyte (9.4), Peripheral blood mononuclear cells (9.3), and Urine (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TMBIM1 Gene



SOURCE GeneReport for Unigene cluster for TMBIM1 Gene Hs.591605

genes like me logo Genes that share expression patterns with TMBIM1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for TMBIM1 Gene

Orthologs for TMBIM1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TMBIM1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TMBIM1 35
  • 87.12 (n)
  • 86.04 (a)
RECS1 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMBIM1 35
  • 82.86 (n)
  • 83.33 (a)
TMBIM1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmbim1 35
  • 86.08 (n)
  • 89.32 (a)
Tmbim1 16
Tmbim1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TMBIM1 35
  • 99.14 (n)
  • 99.36 (a)
TMBIM1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmbim1 35
  • 85.76 (n)
  • 88.35 (a)
oppossum
(Monodelphis domestica)
Mammalia TMBIM1 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMBIM1 35
  • 70.59 (n)
  • 71.24 (a)
TMBIM1 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMBIM1 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmbim1 35
  • 65.59 (n)
  • 66.45 (a)
zebrafish
(Danio rerio)
Actinopterygii tmbim1 35
  • 61.97 (n)
  • 58.39 (a)
tmbim1 36
  • 51 (a)
OneToMany
TMBIM1 (2 of 2) 36
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG9722 36
  • 33 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tag-120 36
  • 36 (a)
ManyToMany
xbx-6 36
  • 33 (a)
ManyToMany
Y42H9AR.2 36
  • 34 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BXI1 36
  • 23 (a)
OneToMany
BXI1 38
Species with no ortholog for TMBIM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMBIM1 Gene

ENSEMBL:
Gene Tree for TMBIM1 (if available)
TreeFam:
Gene Tree for TMBIM1 (if available)

Paralogs for TMBIM1 Gene

Paralogs for TMBIM1 Gene

genes like me logo Genes that share paralogs with TMBIM1: view

Variants for TMBIM1 Gene

Sequence variations from dbSNP and Humsavar for TMBIM1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_017382 -

Structural Variations from Database of Genomic Variants (DGV) for TMBIM1 Gene

Variant ID Type Subtype PubMed ID
nsv875854 CNV Gain 21882294
nsv519829 CNV Loss 19592680

Variation tolerance for TMBIM1 Gene

Residual Variation Intolerance Score: 44.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.10; 80.51% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for TMBIM1 Gene

Disorders for TMBIM1 Gene

Relevant External Links for TMBIM1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMBIM1

No disorders were found for TMBIM1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMBIM1 Gene

Publications for TMBIM1 Gene

  1. RECS1 deficiency in mice induces susceptibility to cystic medial degeneration. (PMID: 16607040) Zhao H. … Nojima H. (Genes Genet. Syst. 2006) 3 4 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. The transmembrane Bax inhibitor motif (TMBIM) containing protein family: Tissue expression, intracellular localization and effects on the ER CAA^a8_-filling state. (PMID: 25764978) Lisak D.A. … Methner A. (Biochim. Biophys. Acta 2015) 3
  4. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3
  5. In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. (PMID: 23533145) Principe S. … Drake R.R. (Proteomics 2013) 3

Products for TMBIM1 Gene

Sources for TMBIM1 Gene

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