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
  • Protein Lifeguard 3 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. 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 Summary 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 , Rfam classification and piRNA Summary for TMBIM1 Gene

Genomics for TMBIM1 Gene

GeneHancer (GH) Regulatory Elements for TMBIM1 Gene

Promoters and enhancers for TMBIM1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMBIM1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMBIM1

Top Transcription factor binding sites by QIAGEN in the TMBIM1 gene promoter:
  • AML1a
  • ATF6
  • Brachyury
  • c-Rel
  • LCR-F1
  • Max1
  • MyoD
  • MZF-1
  • NF-kappaB1
  • Pax-2b

Genomic Locations for TMBIM1 Gene

Genomic Locations for TMBIM1 Gene
chr2:218,274,194-218,292,586
(GRCh38/hg38)
Size:
18,393 bases
Orientation:
Minus strand
chr2:219,138,915-219,157,309
(GRCh37/hg19)
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; Evidence={ECO:0000305}; Sequence=BAB55346.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC11636.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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
  • Transporters

Protein Domains for TMBIM1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMBIM1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54055, highly similar to Transmembrane BAX inhibitor motif-containing protein 1 (B3KSM0_HUMAN)
  • cDNA FLJ53633, highly similar to Transmembrane BAX inhibitor motif-containing protein 1 (B4DNZ1_HUMAN)
  • cDNA FLJ53658, highly similar to Transmembrane BAX inhibitor motif-containing protein 1 (B4DUD2_HUMAN)
  • Responsive to centrifugal force and shear stress gene 1 (Q1MW40_HUMAN)
  • MSTP100 (Q7Z4D9_HUMAN)

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMBIM1

Clone 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
endosome 5
lysosome 5
golgi apparatus 5
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

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

PathCards logo

SuperPathways 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

mRNA/cDNA for TMBIM1 Gene

10 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMBIM1

Clone 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

Expression for TMBIM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for TMBIM1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Stomach(2.7)
  • Muscle(2.5)
  • 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 31 30
  • 99.14 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TMBIM1 30
  • 87.12 (n)
RECS1 31
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmbim1 17 31 30
  • 86.08 (n)
rat
(Rattus norvegicus)
Mammalia Tmbim1 30
  • 85.76 (n)
oppossum
(Monodelphis domestica)
Mammalia TMBIM1 31
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMBIM1 31 30
  • 82.86 (n)
OneToOne
chicken
(Gallus gallus)
Aves TMBIM1 31 30
  • 70.59 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMBIM1 31
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmbim1 30
  • 65.59 (n)
zebrafish
(Danio rerio)
Actinopterygii tmbim1 31 30
  • 61.97 (n)
OneToMany
TMBIM1 (2 of 2) 31
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG9722 31
  • 33 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tag-120 31
  • 36 (a)
ManyToMany
Y42H9AR.2 31
  • 34 (a)
ManyToMany
xbx-6 31
  • 33 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BXI1 33 31
  • 23 (a)
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)
Aminode:
Evolutionary constrained regions (ECRs) for TMBIM1: view image

Paralogs for TMBIM1 Gene

Paralogs for TMBIM1 Gene

(4) SIMAP similar genes for TMBIM1 Gene using alignment to 15 proteins:

  • LFG3_HUMAN
  • B3KSM0_HUMAN
  • B4DUD2_HUMAN
  • C9IYT2_HUMAN
  • C9IZ27_HUMAN
  • C9JAK9_HUMAN
  • C9JAP5_HUMAN
  • C9JDV0_HUMAN
  • C9JEN3_HUMAN
  • C9JI44_HUMAN
  • C9JM62_HUMAN
  • C9JN47_HUMAN
  • C9JW19_HUMAN
  • C9JWV9_HUMAN
  • F8WDY4_HUMAN
genes like me logo Genes that share paralogs with TMBIM1: view

Variants for TMBIM1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMBIM1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs35041266 Likely Benign: not provided 218,282,014(-) G/A MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs2292553 - p.Pro21Leu

Additional dbSNP identifiers (rs#s) for TMBIM1 Gene

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. Tmbim1 is a multivesicular body regulator that protects against non-alcoholic fatty liver disease in mice and monkeys by targeting the lysosomal degradation of Tlr4. (PMID: 28481357) Zhao GN … Li H (Nature medicine 2017) 2 3 54
  2. RECS1 deficiency in mice induces susceptibility to cystic medial degeneration. (PMID: 16607040) Zhao H … Nojima H (Genes & genetic systems 2006) 3 4 54
  3. 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 54
  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 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for TMBIM1 Gene

Sources for TMBIM1 Gene