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LTBP1 (latent transforming growth factor beta binding protein 1)

Identity

Alias (NCBI)-
HGNC (Hugo) LTBP1
HGNC Alias nameTGF-beta1-BP-1
LocusID (NCBI) 4052
Atlas_Id 41212
Location 2p22.3  [Link to chromosome band 2p22]
Location_base_pair Starts at 32946953 and ends at 33399508 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)
AXL (19q13.2)::LTBP1 (2p22.3)CLEC18A (16q22.1)::LTBP1 (2p22.3)LTBP1 (2p22.3)::BIRC6 (2p22.3)
LTBP1 (2p22.3)::CDH23 (10q22.1)LTBP1 (2p22.3)::PLB1 (2p23.2)LTBP1 (2p22.3)::TTC27 (2p22.3)
MIR99AHG (21q21.1)::LTBP1 (2p22.3)LTBP1 2p22.3::BIRC6 2p22.3LTBP1 2p22.3::CDH23 10q22.1
LTBP1 2p22.3::PLB1 2p23.2LTBP1 2p22.3::TTC27 2p22.3

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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;2)(p22;p22) LTBP1::BIRC6::del(2)(p22p22) LTBP1::BIRC6


External links

 

Nomenclature
HGNC (Hugo)LTBP1   6714
Cards
Entrez_Gene (NCBI)LTBP1    latent transforming growth factor beta binding protein 1
Aliases
GeneCards (Weizmann)LTBP1
Ensembl hg19 (Hinxton)ENSG00000049323 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000049323 [Gene_View]  ENSG00000049323 [Sequence]  chr2:32946953-33399508 [Contig_View]  LTBP1 [Vega]
ICGC DataPortalENSG00000049323
TCGA cBioPortalLTBP1
AceView (NCBI)LTBP1
Genatlas (Paris)LTBP1
SOURCE (Princeton)LTBP1
Genetics Home Reference (NIH)LTBP1
Genomic and cartography
GoldenPath hg38 (UCSC)LTBP1  -     chr2:32946953-33399508 +  2p22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LTBP1  -     2p22.3   [Description]    (hg19-Feb_2009)
GoldenPathLTBP1 - 2p22.3 [CytoView hg19]  LTBP1 - 2p22.3 [CytoView hg38]
ImmunoBaseENSG00000049323
Genome Data Viewer NCBILTBP1 [Mapview hg19]  
OMIM150390   
Gene and transcription
Genbank (Entrez)AA935267 AB208801 AF489528 AK298027 AK299237
RefSeq transcript (Entrez)NM_000627 NM_001166264 NM_001166265 NM_001166266 NM_001394905 NM_001394906 NM_001394907 NM_001394908 NM_001394909 NM_001394910 NM_001394911 NM_001394912 NM_001394913 NM_001394914 NM_001394915 NM_001394916 NM_001394917 NM_001394918 NM_001394919 NM_001394920 NM_001394921 NM_001394923 NM_001394924 NM_001394925 NM_001394926 NM_001394927 NM_206943
Consensus coding sequences : CCDS (NCBI)LTBP1
Gene ExpressionLTBP1 [ NCBI-GEO ]   LTBP1 [ EBI - ARRAY_EXPRESS ]   LTBP1 [ SEEK ]   LTBP1 [ MEM ]
Gene Expression Viewer (FireBrowse)LTBP1 [ Firebrowse - Broad ]
GenevisibleExpression of LTBP1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4052
GTEX Portal (Tissue expression)LTBP1
Human Protein AtlasENSG00000049323-LTBP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14766   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14766  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14766
PhosPhoSitePlusQ14766
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    TB (PS51364)   
Domains : Interpro (EBI)cEGF    EGF-like_Ca-bd_dom    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    Growth_fac_rcpt_cys_sf    TB_dom    TB_dom_sf   
Domain families : Pfam (Sanger)cEGF (PF12662)    EGF_CA (PF07645)    TB (PF00683)   
Domain families : Pfam (NCBI)pfam12662    pfam07645    pfam00683   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  
Conserved Domain (NCBI)LTBP1
PDB (RSDB)1KSQ   
PDB Europe1KSQ   
PDB (PDBSum)1KSQ   
PDB (IMB)1KSQ   
Structural Biology KnowledgeBase1KSQ   
SCOP (Structural Classification of Proteins)1KSQ   
CATH (Classification of proteins structures)1KSQ   
SuperfamilyQ14766
AlphaFold pdb e-kbQ14766   
Human Protein Atlas [tissue]ENSG00000049323-LTBP1 [tissue]
HPRD01039
Protein Interaction databases
DIP (DOE-UCLA)Q14766
IntAct (EBI)Q14766
BioGRIDLTBP1
STRING (EMBL)LTBP1
ZODIACLTBP1
Ontologies - Pathways
QuickGOQ14766
Ontology : AmiGOmicrofibril  transforming growth factor beta-activated receptor activity  extracellular matrix structural constituent  calcium ion binding  protein binding  extracellular region  extracellular region  endoplasmic reticulum lumen  transmembrane receptor protein serine/threonine kinase signaling pathway  extracellular matrix  extracellular matrix  protein-containing complex  sequestering of TGFbeta in extracellular matrix  sequestering of TGFbeta in extracellular matrix  post-translational protein modification  cellular protein metabolic process  transforming growth factor beta binding  microfibril binding  microfibril binding  collagen-containing extracellular matrix  collagen-containing extracellular matrix  collagen-containing extracellular matrix  regulation of transforming growth factor beta activation  
Ontology : EGO-EBImicrofibril  transforming growth factor beta-activated receptor activity  extracellular matrix structural constituent  calcium ion binding  protein binding  extracellular region  extracellular region  endoplasmic reticulum lumen  transmembrane receptor protein serine/threonine kinase signaling pathway  extracellular matrix  extracellular matrix  protein-containing complex  sequestering of TGFbeta in extracellular matrix  sequestering of TGFbeta in extracellular matrix  post-translational protein modification  cellular protein metabolic process  transforming growth factor beta binding  microfibril binding  microfibril binding  collagen-containing extracellular matrix  collagen-containing extracellular matrix  collagen-containing extracellular matrix  regulation of transforming growth factor beta activation  
Pathways : KEGGTGF-beta signaling pathway   
NDEx NetworkLTBP1
Atlas of Cancer Signalling NetworkLTBP1
Wikipedia pathwaysLTBP1
Orthology - Evolution
OrthoDB4052
GeneTree (enSembl)ENSG00000049323
Phylogenetic Trees/Animal Genes : TreeFamLTBP1
Homologs : HomoloGeneLTBP1
Homology/Alignments : Family Browser (UCSC)LTBP1
Gene fusions - Rearrangements
Fusion : MitelmanLTBP1::BIRC6 [2p22.3/2p22.3]  
Fusion : MitelmanLTBP1::CDH23 [2p22.3/10q22.1]  
Fusion : MitelmanLTBP1::PLB1 [2p22.3/2p23.2]  
Fusion : MitelmanLTBP1::TTC27 [2p22.3/2p22.3]  
Fusion : QuiverLTBP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLTBP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LTBP1
dbVarLTBP1
ClinVarLTBP1
MonarchLTBP1
1000_GenomesLTBP1 
Exome Variant ServerLTBP1
GNOMAD BrowserENSG00000049323
Varsome BrowserLTBP1
ACMGLTBP1 variants
VarityQ14766
Genomic Variants (DGV)LTBP1 [DGVbeta]
DECIPHERLTBP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLTBP1 
Mutations
ICGC Data PortalLTBP1 
TCGA Data PortalLTBP1 
Broad Tumor PortalLTBP1
OASIS PortalLTBP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLTBP1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DLTBP1
Mutations and Diseases : HGMDLTBP1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaLTBP1
DgiDB (Drug Gene Interaction Database)LTBP1
DoCM (Curated mutations)LTBP1
CIViC (Clinical Interpretations of Variants in Cancer)LTBP1
Cancer3DLTBP1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM150390   
Orphanet
DisGeNETLTBP1
MedgenLTBP1
Genetic Testing Registry LTBP1
NextProtQ14766 [Medical]
GENETestsLTBP1
Target ValidationLTBP1
Huge Navigator LTBP1 [HugePedia]
ClinGenLTBP1
Clinical trials, drugs, therapy
MyCancerGenomeLTBP1
Protein Interactions : CTDLTBP1
Pharm GKB GenePA30477
PharosQ14766
Clinical trialLTBP1
Miscellaneous
canSAR (ICR)LTBP1
HarmonizomeLTBP1
ARCHS4LTBP1
DataMed IndexLTBP1
Probes
Litterature
PubMed123 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXLTBP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 18:19:04 CET 2022

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