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Aliases for TMBIM6 Gene

Aliases for TMBIM6 Gene

  • Transmembrane BAX Inhibitor Motif Containing 6 2 3 5
  • Transmembrane BAX Inhibitor Motif-Containing Protein 6 3 4
  • Testis-Enhanced Gene Transcript Protein 3 4
  • Testis Enhanced Gene Transcript 2 3
  • TEGT 3 4
  • BI-1 3 4
  • BAX Inhibitor 1 2
  • BAXI1 3
  • BI1 4

External Ids for TMBIM6 Gene

Previous HGNC Symbols for TMBIM6 Gene

  • TEGT

Previous GeneCards Identifiers for TMBIM6 Gene

  • GC12P048422
  • GC12P050135
  • GC12P047166
  • GC12P050101

Summaries for TMBIM6 Gene

GeneCards Summary for TMBIM6 Gene

TMBIM6 (Transmembrane BAX Inhibitor Motif Containing 6) is a Protein Coding gene. Diseases associated with TMBIM6 include inclusion conjunctivitis. GO annotations related to this gene include enzyme binding and endoribonuclease inhibitor activity.

UniProtKB/Swiss-Prot for TMBIM6 Gene

  • Suppressor of apoptosis (PubMed:21075086). Modulates unfolded protein response signaling (PubMed:21075086). Modulates ER calcium homeostasis by acting as a calcium-leak channel (PubMed:22128171). Negatively regulates autophagy and autophagosome formation, especially during periods of nutrient deprivation, and reduces cell survival during starvation (By similarity).

Gene Wiki entry for TMBIM6 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMBIM6 Gene

Genomics for TMBIM6 Gene

Regulatory Elements for TMBIM6 Gene

Promoters for TMBIM6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TMBIM6 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMBIM6 Gene

Chromosome:
12
Start:
49,707,725 bp from pter
End:
49,764,934 bp from pter
Size:
57,210 bases
Orientation:
Plus strand

Genomic View for TMBIM6 Gene

Genes around TMBIM6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMBIM6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMBIM6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMBIM6 Gene

Proteins for TMBIM6 Gene

  • Protein details for TMBIM6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55061-BI1_HUMAN
    Recommended name:
    Bax inhibitor 1
    Protein Accession:
    P55061
    Secondary Accessions:
    • B2R5M4
    • F8W034
    • O14938
    • Q643A7
    • Q96J50

    Protein attributes for TMBIM6 Gene

    Size:
    237 amino acids
    Molecular mass:
    26538 Da
    Quaternary structure:
    • Interacts with BCL2 and BCL2L1.

    Alternative splice isoforms for TMBIM6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMBIM6 Gene

Proteomics data for TMBIM6 Gene at MOPED

Post-translational modifications for TMBIM6 Gene

  • Ubiquitination at Lys 7 and Lys 15
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMBIM6 Gene

Domains & Families for TMBIM6 Gene

Gene Families for TMBIM6 Gene

Protein Domains for TMBIM6 Gene

Suggested Antigen Peptide Sequences for TMBIM6 Gene

Graphical View of Domain Structure for InterPro Entry

P55061

UniProtKB/Swiss-Prot:

BI1_HUMAN :
  • The intra-membrane loop at the C-terminus acts as a calcium pore, mediating calcium leak from the ER into the cytosol.
  • Belongs to the BI1 family.
Domain:
  • The intra-membrane loop at the C-terminus acts as a calcium pore, mediating calcium leak from the ER into the cytosol.
Family:
  • Belongs to the BI1 family.
genes like me logo Genes that share domains with TMBIM6: view

Function for TMBIM6 Gene

Molecular function for TMBIM6 Gene

UniProtKB/Swiss-Prot Function:
Suppressor of apoptosis (PubMed:21075086). Modulates unfolded protein response signaling (PubMed:21075086). Modulates ER calcium homeostasis by acting as a calcium-leak channel (PubMed:22128171). Negatively regulates autophagy and autophagosome formation, especially during periods of nutrient deprivation, and reduces cell survival during starvation (By similarity).

Gene Ontology (GO) - Molecular Function for TMBIM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0060698 endoribonuclease inhibitor activity IEA,IDA 19328063
genes like me logo Genes that share ontologies with TMBIM6: view
genes like me logo Genes that share phenotypes with TMBIM6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TMBIM6

CRISPR Products

miRNA for TMBIM6 Gene

miRTarBase miRNAs that target TMBIM6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMBIM6 Gene

Localization for TMBIM6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMBIM6 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMBIM6 Gene COMPARTMENTS Subcellular localization image for TMBIM6 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 5
nucleus 5
plasma membrane 5
cytosol 1

Gene Ontology (GO) - Cellular Components for TMBIM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
GO:0031966 mitochondrial membrane IDA 9660918
genes like me logo Genes that share ontologies with TMBIM6: view

Pathways & Interactions for TMBIM6 Gene

SuperPathways for TMBIM6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMBIM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006914 autophagy IEA --
GO:0006986 response to unfolded protein IEA --
GO:0030324 lung development IEA --
GO:0032091 negative regulation of protein binding IDA 19328063
GO:0034976 response to endoplasmic reticulum stress IEA --
genes like me logo Genes that share ontologies with TMBIM6: view

No data available for Pathways by source and SIGNOR curated interactions for TMBIM6 Gene

Drugs & Compounds for TMBIM6 Gene

(1) Drugs for TMBIM6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with TMBIM6: view

Transcripts for TMBIM6 Gene

Unigene Clusters for TMBIM6 Gene

Transmembrane BAX inhibitor motif containing 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMBIM6 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14
SP1: - - - - - - - -
SP2: - -
SP3: - - - -
SP4: - - - - -
SP5: - - - -
SP6:
SP7:
SP8: - -

Relevant External Links for TMBIM6 Gene

GeneLoc Exon Structure for
TMBIM6
ECgene alternative splicing isoforms for
TMBIM6

Expression for TMBIM6 Gene

mRNA expression in normal human tissues for TMBIM6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMBIM6 Gene

This gene is overexpressed in CD4 Tcells (24.6), Nasal epithelium (22.8), and Liver (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TMBIM6 Gene



SOURCE GeneReport for Unigene cluster for TMBIM6 Gene Hs.743965

mRNA Expression by UniProt/SwissProt for TMBIM6 Gene

P55061-BI1_HUMAN
Tissue specificity: Highly abundant in testis.
genes like me logo Genes that share expression patterns with TMBIM6: view

Protein tissue co-expression partners for TMBIM6 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for TMBIM6 Gene

Orthologs for TMBIM6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TMBIM6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TMBIM6 35
  • 90.25 (n)
  • 92.58 (a)
TMBIM6 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMBIM6 35
  • 91.96 (n)
  • 93.86 (a)
TMBIM6 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmbim6 35
  • 86.26 (n)
  • 93.42 (a)
Tmbim6 16
Tmbim6 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TMBIM6 35
  • 99.58 (n)
  • 99.58 (a)
TMBIM6 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmbim6 35
  • 85.67 (n)
  • 91.23 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 66 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia TMBIM6 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7178 35
tmbim6 35
  • 72.22 (n)
  • 74.12 (a)
African clawed frog
(Xenopus laevis)
Amphibia tegt-prov 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
tegt 35
  • 67.4 (n)
  • 67.4 (a)
tegt 36
  • 68 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9990 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005775 35
  • 51.2 (n)
  • 46.41 (a)
fruit fly
(Drosophila melanogaster)
Insecta BI-1 35
  • 48.2 (n)
  • 38.24 (a)
BI-1 36
  • 35 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons BI1 35
  • 51.29 (n)
  • 44.75 (a)
rice
(Oryza sativa)
Liliopsida Os02g0125300 35
  • 49.92 (n)
  • 41.86 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11346 36
  • 56 (a)
OneToOne
Species with no ortholog for TMBIM6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMBIM6 Gene

ENSEMBL:
Gene Tree for TMBIM6 (if available)
TreeFam:
Gene Tree for TMBIM6 (if available)

Paralogs for TMBIM6 Gene

No data available for Paralogs for TMBIM6 Gene

Variants for TMBIM6 Gene

Sequence variations from dbSNP and Humsavar for TMBIM6 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs4563 -- 49,758,410(+) GGCAC(A/C/G)GCAAT reference, synonymous-codon
rs7688 -- 49,763,288(+) CTCAT(C/T)GTTGT utr-variant-3-prime
rs897056 -- 49,743,498(-) TAGCA(A/T)TTTGG intron-variant
rs1012874 -- 49,753,167(+) CCCTG(C/T)TCCTC intron-variant
rs717135 -- 49,762,715(+) AGGAT(A/G)TGGTT intron-variant

Variation tolerance for TMBIM6 Gene

Residual Variation Intolerance Score: 47.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.59; 30.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMBIM6 Gene

HapMap Linkage Disequilibrium report
TMBIM6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TMBIM6 Gene

Disorders for TMBIM6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMBIM6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
inclusion conjunctivitis
  • adult inclusion conjunctivitis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TMBIM6

Genetic Association Database (GAD)
TMBIM6
Human Genome Epidemiology (HuGE) Navigator
TMBIM6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMBIM6
genes like me logo Genes that share disorders with TMBIM6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMBIM6 Gene

Publications for TMBIM6 Gene

  1. Bax inhibitor-1, a mammalian apoptosis suppressor identified by functional screening in yeast. (PMID: 9660918) Xu Q. … Reed J.C. (Mol. Biol. Cell 1998) 2 3 4 67
  2. Bax inhibitor-1 mediates apoptosis-resistance in human nasopharyngeal carcinoma cells. (PMID: 19579059) Zhang M. … Zhou K. (Mol. Cell. Biochem. 2010) 3 23
  3. Bax inhibitor 1 increases cell adhesion through actin polymerization: involvement of calcium and actin binding. (PMID: 20123969) Lee G.H. … Chae H.J. (Mol. Cell. Biol. 2010) 3 23
  4. Bax inhibitor-1 down-regulation in the progression of chronic liver diseases. (PMID: 20359348) Kotsafti A. … Bortolami M. (BMC Gastroenterol 2010) 3 23
  5. BI-1 regulates endoplasmic reticulum Ca2+ homeostasis downstream of Bcl-2 family proteins. (PMID: 18299329) Xu C. … Reed J.C. (J. Biol. Chem. 2008) 3 23

Products for TMBIM6 Gene

Sources for TMBIM6 Gene

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