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TAB1 (TGF-beta activated kinase 1/MAP3K7 binding protein 1)

Identity

Alias_namesMAP3K7IP1
mitogen-activated protein kinase kinase kinase 7 interacting protein 1
TGF-beta activated kinase 1/MAP3K7 binding protein 1
Other alias3'-Tab1
HGNC (Hugo) TAB1
LocusID (NCBI) 10454
Atlas_Id 51350
Location 22q13.1  [Link to chromosome band 22q13]
Location_base_pair Starts at 39795759 and ends at 39827887 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CACNA1I (22q13.1) / TAB1 (22q13.1)ITCH (20q11.22) / TAB1 (22q13.1)TAB1 (22q13.1) / MSL2 (3q22.3)
CACNA1I 22q13.1 / TAB1 22q13.1ITCH 20q11.22 / TAB1 22q13.1

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)TAB1   18157
Cards
Entrez_Gene (NCBI)TAB1  10454  TGF-beta activated kinase 1/MAP3K7 binding protein 1
Aliases3'-Tab1; MAP3K7IP1
GeneCards (Weizmann)TAB1
Ensembl hg19 (Hinxton)ENSG00000100324 [Gene_View]  chr22:39795759-39827887 [Contig_View]  TAB1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000100324 [Gene_View]  chr22:39795759-39827887 [Contig_View]  TAB1 [Vega]
ICGC DataPortalENSG00000100324
TCGA cBioPortalTAB1
AceView (NCBI)TAB1
Genatlas (Paris)TAB1
WikiGenes10454
SOURCE (Princeton)TAB1
Genetics Home Reference (NIH)TAB1
Genomic and cartography
GoldenPath hg19 (UCSC)TAB1  -     chr22:39795759-39827887 +  22q13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TAB1  -     22q13.1   [Description]    (hg38-Dec_2013)
EnsemblTAB1 - 22q13.1 [CytoView hg19]  TAB1 - 22q13.1 [CytoView hg38]
Mapping of homologs : NCBITAB1 [Mapview hg19]  TAB1 [Mapview hg38]
OMIM602615   
Gene and transcription
Genbank (Entrez)AF425640 AI827837 AK291668 AK296314 AK308903
RefSeq transcript (Entrez)NM_006116 NM_153497
RefSeq genomic (Entrez)NC_000022 NC_018933 NG_029549 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)TAB1
Cluster EST : UnigeneHs.729080 [ NCBI ]
CGAP (NCI)Hs.729080
Alternative Splicing GalleryENSG00000100324
Gene ExpressionTAB1 [ NCBI-GEO ]   TAB1 [ EBI - ARRAY_EXPRESS ]   TAB1 [ SEEK ]   TAB1 [ MEM ]
Gene Expression Viewer (FireBrowse)TAB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10454
GTEX Portal (Tissue expression)TAB1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15750   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15750  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15750
Splice isoforms : SwissVarQ15750
PhosPhoSitePlusQ15750
Domaine pattern : Prosite (Expaxy)PPM_2 (PS51746)   
Domains : Interpro (EBI)PP2C    PPM-type_phosphatase_dom   
Domain families : Pfam (Sanger)PP2C (PF00481)   
Domain families : Pfam (NCBI)pfam00481   
Domain families : Smart (EMBL)PP2Cc (SM00332)  
Conserved Domain (NCBI)TAB1
DMDM Disease mutations10454
Blocks (Seattle)TAB1
PDB (SRS)2J4O    2POM    2POP    2YDS    2YIY    4AY5    4AY6    4GS6    4KA3    4L3P    4L53    4O91    5DIY   
PDB (PDBSum)2J4O    2POM    2POP    2YDS    2YIY    4AY5    4AY6    4GS6    4KA3    4L3P    4L53    4O91    5DIY   
PDB (IMB)2J4O    2POM    2POP    2YDS    2YIY    4AY5    4AY6    4GS6    4KA3    4L3P    4L53    4O91    5DIY   
PDB (RSDB)2J4O    2POM    2POP    2YDS    2YIY    4AY5    4AY6    4GS6    4KA3    4L3P    4L53    4O91    5DIY   
Structural Biology KnowledgeBase2J4O    2POM    2POP    2YDS    2YIY    4AY5    4AY6    4GS6    4KA3    4L3P    4L53    4O91    5DIY   
SCOP (Structural Classification of Proteins)2J4O    2POM    2POP    2YDS    2YIY    4AY5    4AY6    4GS6    4KA3    4L3P    4L53    4O91    5DIY   
CATH (Classification of proteins structures)2J4O    2POM    2POP    2YDS    2YIY    4AY5    4AY6    4GS6    4KA3    4L3P    4L53    4O91    5DIY   
SuperfamilyQ15750
Human Protein AtlasENSG00000100324
Peptide AtlasQ15750
HPRD04012
IPIIPI00019459   IPI00395625   IPI00915903   IPI00916611   
Protein Interaction databases
DIP (DOE-UCLA)Q15750
IntAct (EBI)Q15750
FunCoupENSG00000100324
BioGRIDTAB1
STRING (EMBL)TAB1
ZODIACTAB1
Ontologies - Pathways
QuickGOQ15750
Ontology : AmiGOactivation of MAPKKK activity  activation of MAPK activity  in utero embryonic development  stimulatory C-type lectin receptor signaling pathway  MyD88-dependent toll-like receptor signaling pathway  heart morphogenesis  cardiac septum development  protein serine/threonine phosphatase activity  protein binding  nucleoplasm  cytoplasm  cytosol  protein dephosphorylation  transforming growth factor beta receptor signaling pathway  I-kappaB kinase/NF-kappaB signaling  JNK cascade  enzyme activator activity  endosome membrane  kinase activator activity  lung development  aorta development  Fc-epsilon receptor signaling pathway  positive regulation of NF-kappaB transcription factor activity  coronary vasculature development  nucleotide-binding oligomerization domain containing signaling pathway  
Ontology : EGO-EBIactivation of MAPKKK activity  activation of MAPK activity  in utero embryonic development  stimulatory C-type lectin receptor signaling pathway  MyD88-dependent toll-like receptor signaling pathway  heart morphogenesis  cardiac septum development  protein serine/threonine phosphatase activity  protein binding  nucleoplasm  cytoplasm  cytosol  protein dephosphorylation  transforming growth factor beta receptor signaling pathway  I-kappaB kinase/NF-kappaB signaling  JNK cascade  enzyme activator activity  endosome membrane  kinase activator activity  lung development  aorta development  Fc-epsilon receptor signaling pathway  positive regulation of NF-kappaB transcription factor activity  coronary vasculature development  nucleotide-binding oligomerization domain containing signaling pathway  
Pathways : BIOCARTATGF beta signaling pathway [Genes]    Toll-Like Receptor Pathway [Genes]    Signal transduction through IL1R [Genes]    NF-kB Signaling Pathway [Genes]    WNT Signaling Pathway [Genes]   
Pathways : KEGGMAPK signaling pathway    NF-kappa B signaling pathway    Osteoclast differentiation    Toll-like receptor signaling pathway    NOD-like receptor signaling pathway    TNF signaling pathway    Leishmaniasis    Toxoplasmosis    Herpes simplex infection    Epstein-Barr virus infection   
NDEx NetworkTAB1
Atlas of Cancer Signalling NetworkTAB1
Wikipedia pathwaysTAB1
Orthology - Evolution
OrthoDB10454
GeneTree (enSembl)ENSG00000100324
Phylogenetic Trees/Animal Genes : TreeFamTAB1
HOVERGENQ15750
HOGENOMQ15750
Homologs : HomoloGeneTAB1
Homology/Alignments : Family Browser (UCSC)TAB1
Gene fusions - Rearrangements
Fusion : MitelmanCACNA1I/TAB1 [22q13.1/22q13.1]  [t(22;22)(q13;q13)]  
Fusion : MitelmanITCH/TAB1 [20q11.22/22q13.1]  [t(20;22)(q11;q13)]  
Fusion: TCGACACNA1I 22q13.1 TAB1 22q13.1 BRCA
Fusion: TCGAITCH 20q11.22 TAB1 22q13.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTAB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TAB1
dbVarTAB1
ClinVarTAB1
1000_GenomesTAB1 
Exome Variant ServerTAB1
ExAC (Exome Aggregation Consortium)TAB1 (select the gene name)
Genetic variants : HAPMAP10454
Genomic Variants (DGV)TAB1 [DGVbeta]
DECIPHER (Syndromes)22:39795759-39827887  ENSG00000100324
CONAN: Copy Number AnalysisTAB1 
Mutations
ICGC Data PortalTAB1 
TCGA Data PortalTAB1 
Broad Tumor PortalTAB1
OASIS PortalTAB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTAB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTAB1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TAB1
DgiDB (Drug Gene Interaction Database)TAB1
DoCM (Curated mutations)TAB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TAB1 (select a term)
intoGenTAB1
Cancer3DTAB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602615   
Orphanet
MedgenTAB1
Genetic Testing Registry TAB1
NextProtQ15750 [Medical]
TSGene10454
GENETestsTAB1
Huge Navigator TAB1 [HugePedia]
snp3D : Map Gene to Disease10454
BioCentury BCIQTAB1
ClinGenTAB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10454
Chemical/Pharm GKB GenePA30604
Clinical trialTAB1
Miscellaneous
canSAR (ICR)TAB1 (select the gene name)
Probes
Litterature
PubMed105 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTAB1
EVEXTAB1
GoPubMedTAB1
iHOPTAB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:21:42 CEST 2017

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