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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
  • Protein Lifeguard 3 3
  • 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. Among its related pathways are Innate Immune System. Gene Ontology (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

Additional gene information for TMBIM1 Gene

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

Genomics for TMBIM1 Gene

GeneHancer (GH) Regulatory Elements for TMBIM1 Gene

Promoters and enhancers for TMBIM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I218281 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 556.4 +2.3 2348 17.9 MLX DMAP1 IRF4 YY1 ZNF143 SP3 NFYC MEF2D GLIS1 RCOR2 TMBIM1 ENSG00000261338 SLC11A1 ANKZF1 CTDSP1 MIR26B CNOT9 ARPC2 PNKD CATIP-AS1
GH02I218393 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.5 -108.4 -108421 14.4 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 GC02P218403 ENSG00000273361 MIR26B CTDSP1 CNOT9 AAMP USP37 STK36 ANKZF1 BCS1L
GH02I218386 Enhancer 1.3 Ensembl ENCODE dbSUPER 19.8 -95.0 -95028 2 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 GLIS2 SP3 ZHX2 PPARG TMBIM1 PNKD AAMP PLCD4 SLC11A1 CTDSP1
GH02I218381 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 19.1 -90.6 -90618 3.6 CTCF FOXA2 HLF ZSCAN4 CEBPB MAX CEBPG FOXA1 POLR2A GLIS1 SLC11A1 TMBIM1 PNKD AAMP CATIP CTDSP1
GH02I218356 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 12.8 -64.5 -64502 1.8 ELF3 PKNOX1 ARID4B SIN3A BMI1 ZNF48 RAD21 SCRT2 CREM THAP11 GC02M218355 CATIP-AS2 CATIP ENSG00000261338 TMBIM1 PNKD AAMP SLC11A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMBIM1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMBIM1 gene promoter:

Genomic Locations for TMBIM1 Gene

Genomic Locations for TMBIM1 Gene
chr2:218,274,192-218,292,586
(GRCh38/hg38)
Size:
18,395 bases
Orientation:
Minus strand
chr2:219,138,915-219,157,309
(GRCh37/hg19)

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

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

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.

Phenotypes From GWAS Catalog for TMBIM1 Gene

Gene Ontology (GO) - Molecular Function for TMBIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005123 death receptor binding IDA 21107705
genes like me logo Genes that share ontologies with TMBIM1: view
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

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMBIM1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 5
golgi apparatus 5
endosome 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TMBIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IDA,IEA 16607040
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IDA 21107705
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with TMBIM1: view

Pathways & Interactions for TMBIM1 Gene

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

Pathways by source for TMBIM1 Gene

3 Reactome pathways for TMBIM1 Gene

Interacting Proteins for TMBIM1 Gene

Gene Ontology (GO) - Biological Process for TMBIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043086 negative regulation of catalytic activity ISS --
GO:0043312 neutrophil degranulation TAS --
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
GO:1903077 negative regulation of protein localization to plasma membrane IMP 21107705
genes like me logo Genes that share ontologies with TMBIM1: view

No data available for 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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TMBIM1 Gene



NURSA nuclear receptor signaling pathways regulating expression of TMBIM1 Gene:

TMBIM1

SOURCE GeneReport for Unigene cluster for TMBIM1 Gene:

Hs.591605

Evidence on tissue expression from TISSUES for TMBIM1 Gene

  • Nervous system(5)
  • Intestine(4.8)
  • Blood(4.6)
  • Pancreas(4.6)
  • Kidney(4.1)
  • Lung(4)
  • Skin(3.6)
  • Muscle(2.8)
  • Stomach(2.7)
  • Gall bladder(2)
  • Heart(2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with TMBIM1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia TMBIM1 33 34
  • 99.14 (n)
cow
(Bos Taurus)
Mammalia TMBIM1 33
  • 87.12 (n)
RECS1 34
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmbim1 33 16 34
  • 86.08 (n)
rat
(Rattus norvegicus)
Mammalia Tmbim1 33
  • 85.76 (n)
oppossum
(Monodelphis domestica)
Mammalia TMBIM1 34
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMBIM1 33 34
  • 82.86 (n)
chicken
(Gallus gallus)
Aves TMBIM1 33 34
  • 70.59 (n)
lizard
(Anolis carolinensis)
Reptilia TMBIM1 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmbim1 33
  • 65.59 (n)
zebrafish
(Danio rerio)
Actinopterygii tmbim1 33 34
  • 61.97 (n)
TMBIM1 (2 of 2) 34
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG9722 34
  • 33 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tag-120 34
  • 36 (a)
ManyToMany
Y42H9AR.2 34
  • 34 (a)
ManyToMany
xbx-6 34
  • 33 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BXI1 34 36
  • 23 (a)
OneToMany
Species where no ortholog for TMBIM1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs35041266 likely-benign, not provided 218,282,014(-) G/A 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant
rs1000013463 -- 218,282,245(-) C/G/T intron_variant
rs1000176624 -- 218,291,310(-) AGAGAGAG/AGAG/AGAGAG genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000286203 -- 218,276,914(-) G/A intron_variant
rs1000474687 -- 218,284,053(-) ACTCA/A 5_prime_UTR_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
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)

Additional Variant Information for TMBIM1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMBIM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMBIM1 Gene

Disorders for TMBIM1 Gene

Additional Disease Information for 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 & genetic systems 2006) 3 4 58
  2. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 58

Products for TMBIM1 Gene

Sources for TMBIM1 Gene

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