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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 Immune System. 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F218381 1.3 Ensembl ENCODE 19.3 -90.8 -90818 4.0 HDGF PKNOX1 ATF1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 TMBIM1 MIR6513 AAMP PNKD SLC11A1 CATIP CTDSP1
GH02F218386 1.2 Ensembl ENCODE 19.8 -94.9 -94929 2.2 HDGF PKNOX1 ATF1 ARID4B FEZF1 GLIS2 SP3 ZHX2 PPARG MIER3 TMBIM1 MIR6513 AAMP PNKD PLCD4 SLC11A1 CTDSP1
GH02F218393 1.9 FANTOM5 Ensembl ENCODE 11.5 -108.6 -108611 14.8 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 AAMP CNOT9 BCS1L STK36 MIR6513 TMBIM1 PNKD CYP27A1 RNF25 CDK5R2
GH02F218389 1 ENCODE 18.3 -97.3 -97322 0.8 HDGF ARID4B SIN3A ZNF48 GLIS2 SP3 MIER2 SSRP1 GLIS1 ETV4 TMBIM1 MIR6513 AAMP PNKD PLCD4 CTDSP1 SLC11A1
GH02F218356 1.2 Ensembl ENCODE 12.8 -64.5 -64504 1.8 ELF3 ATF1 ARID4B BMI1 ZNF48 RAD21 SCRT2 CREM THAP11 CEBPB ENSG00000261338 MIR6513 TMBIM1 PNKD AAMP SLC11A1 CATIP CATIP-AS2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000607620 786 2401 ARID4B SIN3A DMAP1 GLIS2 ZNF143 ZNF207 ZNF263 SP3 SP5 REST

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

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.

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

miRNA for TMBIM1 Gene

miRTarBase miRNAs that target TMBIM1

Inhibitory RNA Products

Flow Cytometry 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

Gene Ontology (GO) - Cellular Components for TMBIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA,IDA 16607040
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IDA 21107705
GO:0010008 endosome membrane IEA,IDA 16607040
genes like me logo Genes that share ontologies with TMBIM1: view

Pathways & Interactions for TMBIM1 Gene

SuperPathways for TMBIM1 Gene

SuperPathway Contained pathways
1 Immune System
genes like me logo Genes that share pathways with TMBIM1: view

Pathways by source for TMBIM1 Gene

2 Reactome pathways 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:0090005 negative regulation of establishment of protein localization to plasma membrane IMP 21107705
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:2000504 positive regulation of blood vessel remodeling ISS --
genes like me logo Genes that share ontologies with TMBIM1: view

No data available for SIGNOR curated interactions for TMBIM1 Gene

Transcripts for TMBIM1 Gene

Unigene Clusters for TMBIM1 Gene

Transmembrane BAX inhibitor motif containing 1:
Representative Sequences:

Inhibitory RNA Products

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

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.14 (n)
cow
(Bos Taurus)
Mammalia TMBIM1 34
  • 87.12 (n)
RECS1 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmbim1 34 16 35
  • 86.08 (n)
rat
(Rattus norvegicus)
Mammalia Tmbim1 34
  • 85.76 (n)
oppossum
(Monodelphis domestica)
Mammalia TMBIM1 35
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMBIM1 34 35
  • 82.86 (n)
chicken
(Gallus gallus)
Aves TMBIM1 34 35
  • 70.59 (n)
lizard
(Anolis carolinensis)
Reptilia TMBIM1 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmbim1 34
  • 65.59 (n)
zebrafish
(Danio rerio)
Actinopterygii tmbim1 34 35
  • 61.97 (n)
TMBIM1 (2 of 2) 35
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG9722 35
  • 33 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tag-120 35
  • 36 (a)
ManyToMany
Y42H9AR.2 35
  • 34 (a)
ManyToMany
xbx-6 35
  • 33 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BXI1 35 37
  • 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 Sequence Context AA Info Type
rs10193383 -- 218,292,969(+) CATTG(C/T)ATGGC intron-variant, upstream-variant-2KB
rs10206064 -- 218,293,236(+) TCATC(C/T)CAGTG intron-variant, upstream-variant-2KB
rs1060365 -- 218,274,247(-) ATCAC(A/C)CAAAG intron-variant, nc-transcript-variant, utr-variant-3-prime
rs10675061 -- 218,289,645(+) ACAGA(-/AA)AAAAA intron-variant
rs10707182 -- 218,289,261(+) ACCTG(-/A)AGTTC intron-variant, upstream-variant-2KB

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)

Relevant External Links 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

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 64
  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 Res. 2005) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D. … Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 64

Products for TMBIM1 Gene

Sources for TMBIM1 Gene

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