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TMBIM1 (transmembrane BAX inhibitor motif containing 1)

Identity

Alias_symbol (synonym)PP1201
RECS1
LFG3
Other aliasMST100
MSTP100
HGNC (Hugo) TMBIM1
LocusID (NCBI) 64114
Atlas_Id 51179
Location 2q35  [Link to chromosome band 2q35]
Location_base_pair Starts at 218274192 and ends at 218292577 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)TMBIM1   23410
Cards
Entrez_Gene (NCBI)TMBIM1  64114  transmembrane BAX inhibitor motif containing 1
AliasesLFG3; MST100; MSTP100; PP1201; 
RECS1
GeneCards (Weizmann)TMBIM1
Ensembl hg19 (Hinxton)ENSG00000135926 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135926 [Gene_View]  ENSG00000135926 [Sequence]  chr2:218274192-218292577 [Contig_View]  TMBIM1 [Vega]
ICGC DataPortalENSG00000135926
TCGA cBioPortalTMBIM1
AceView (NCBI)TMBIM1
Genatlas (Paris)TMBIM1
WikiGenes64114
SOURCE (Princeton)TMBIM1
Genetics Home Reference (NIH)TMBIM1
Genomic and cartography
GoldenPath hg38 (UCSC)TMBIM1  -     chr2:218274192-218292577 -  2q35   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMBIM1  -     2q35   [Description]    (hg19-Feb_2009)
GoldenPathTMBIM1 - 2q35 [CytoView hg19]  TMBIM1 - 2q35 [CytoView hg38]
ImmunoBaseENSG00000135926
Mapping of homologs : NCBITMBIM1 [Mapview hg19]  TMBIM1 [Mapview hg38]
OMIM610364   
Gene and transcription
Genbank (Entrez)AB257295 AF173384 AF193045 AK027755 AK075465
RefSeq transcript (Entrez)NM_001321427 NM_001321428 NM_001321429 NM_001321430 NM_001321432 NM_001321433 NM_001321435 NM_001321436 NM_001321438 NM_022152
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMBIM1
Cluster EST : UnigeneHs.591605 [ NCBI ]
CGAP (NCI)Hs.591605
Alternative Splicing GalleryENSG00000135926
Gene ExpressionTMBIM1 [ NCBI-GEO ]   TMBIM1 [ EBI - ARRAY_EXPRESS ]   TMBIM1 [ SEEK ]   TMBIM1 [ MEM ]
Gene Expression Viewer (FireBrowse)TMBIM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64114
GTEX Portal (Tissue expression)TMBIM1
Human Protein AtlasENSG00000135926-TMBIM1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ969X1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ969X1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ969X1
Splice isoforms : SwissVarQ969X1
PhosPhoSitePlusQ969X1
Domains : Interpro (EBI)Bax_inhibitor_1-related   
Domain families : Pfam (Sanger)Bax1-I (PF01027)   
Domain families : Pfam (NCBI)pfam01027   
Conserved Domain (NCBI)TMBIM1
DMDM Disease mutations64114
Blocks (Seattle)TMBIM1
SuperfamilyQ969X1
Human Protein Atlas [tissue]ENSG00000135926-TMBIM1 [tissue]
Peptide AtlasQ969X1
HPRD17884
IPIIPI00290452   IPI00925684   IPI00385091   IPI00909106   IPI00925438   IPI00926582   IPI00927662   IPI00926952   IPI00926370   IPI00924443   IPI00924650   IPI00927460   IPI00925064   IPI00925342   IPI00925618   IPI00925781   IPI00926037   
Protein Interaction databases
DIP (DOE-UCLA)Q969X1
IntAct (EBI)Q969X1
FunCoupENSG00000135926
BioGRIDTMBIM1
STRING (EMBL)TMBIM1
ZODIACTMBIM1
Ontologies - Pathways
QuickGOQ969X1
Ontology : AmiGOdeath receptor binding  lysosomal membrane  lysosomal membrane  Golgi apparatus  plasma membrane  endosome membrane  integral component of membrane  specific granule membrane  negative regulation of catalytic activity  intracellular membrane-bounded organelle  neutrophil degranulation  extracellular exosome  negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  negative regulation of Fas signaling pathway  negative regulation of protein localization to plasma membrane  positive regulation of blood vessel remodeling  
Ontology : EGO-EBIdeath receptor binding  lysosomal membrane  lysosomal membrane  Golgi apparatus  plasma membrane  endosome membrane  integral component of membrane  specific granule membrane  negative regulation of catalytic activity  intracellular membrane-bounded organelle  neutrophil degranulation  extracellular exosome  negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  negative regulation of Fas signaling pathway  negative regulation of protein localization to plasma membrane  positive regulation of blood vessel remodeling  
NDEx NetworkTMBIM1
Atlas of Cancer Signalling NetworkTMBIM1
Wikipedia pathwaysTMBIM1
Orthology - Evolution
OrthoDB64114
GeneTree (enSembl)ENSG00000135926
Phylogenetic Trees/Animal Genes : TreeFamTMBIM1
HOGENOMQ969X1
Homologs : HomoloGeneTMBIM1
Homology/Alignments : Family Browser (UCSC)TMBIM1
Gene fusions - Rearrangements
Fusion : QuiverTMBIM1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMBIM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMBIM1
dbVarTMBIM1
ClinVarTMBIM1
1000_GenomesTMBIM1 
Exome Variant ServerTMBIM1
ExAC (Exome Aggregation Consortium)ENSG00000135926
GNOMAD BrowserENSG00000135926
Varsome BrowserTMBIM1
Genetic variants : HAPMAP64114
Genomic Variants (DGV)TMBIM1 [DGVbeta]
DECIPHERTMBIM1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMBIM1 
Mutations
ICGC Data PortalTMBIM1 
TCGA Data PortalTMBIM1 
Broad Tumor PortalTMBIM1
OASIS PortalTMBIM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMBIM1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTMBIM1
Mutations and Diseases : HGMDTMBIM1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TMBIM1
DgiDB (Drug Gene Interaction Database)TMBIM1
DoCM (Curated mutations)TMBIM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMBIM1 (select a term)
intoGenTMBIM1
Cancer3DTMBIM1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610364   
Orphanet
DisGeNETTMBIM1
MedgenTMBIM1
Genetic Testing Registry TMBIM1
NextProtQ969X1 [Medical]
TSGene64114
GENETestsTMBIM1
Target ValidationTMBIM1
Huge Navigator TMBIM1 [HugePedia]
snp3D : Map Gene to Disease64114
BioCentury BCIQTMBIM1
ClinGenTMBIM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64114
Chemical/Pharm GKB GenePA142670804
Clinical trialTMBIM1
Miscellaneous
canSAR (ICR)TMBIM1 (select the gene name)
DataMed IndexTMBIM1
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMBIM1
EVEXTMBIM1
GoPubMedTMBIM1
iHOPTMBIM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 18:11:57 CET 2019

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