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LTBP1 (latent transforming growth factor beta binding protein 1)

Identity

Other names-
HGNC (Hugo) LTBP1
LocusID (NCBI) 4052
Atlas_Id 41212
Location 2p22.3  [Link to chromosome band 2p22]
Location_base_pair Starts at 33359664 and ends at 33624575 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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

 


External links

Nomenclature
HGNC (Hugo)LTBP1   6714
Cards
Entrez_Gene (NCBI)LTBP1  4052  latent transforming growth factor beta binding protein 1
Aliases
GeneCards (Weizmann)LTBP1
Ensembl hg19 (Hinxton)ENSG00000049323 [Gene_View]  chr2:33359664-33624575 [Contig_View]  LTBP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000049323 [Gene_View]  chr2:33359664-33624575 [Contig_View]  LTBP1 [Vega]
ICGC DataPortalENSG00000049323
TCGA cBioPortalLTBP1
AceView (NCBI)LTBP1
Genatlas (Paris)LTBP1
WikiGenes4052
SOURCE (Princeton)LTBP1
Genomic and cartography
GoldenPath hg19 (UCSC)LTBP1  -     chr2:33359664-33624575 +  2p22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)LTBP1  -     2p22.3   [Description]    (hg38-Dec_2013)
EnsemblLTBP1 - 2p22.3 [CytoView hg19]  LTBP1 - 2p22.3 [CytoView hg38]
Mapping of homologs : NCBILTBP1 [Mapview hg19]  LTBP1 [Mapview hg38]
OMIM150390   
Gene and transcription
Genbank (Entrez)AA935267 AB208801 AF489528 AK298027 AK299237
RefSeq transcript (Entrez)NM_000627 NM_001166264 NM_001166265 NM_001166266 NM_206943
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_022184 NW_004929300
Consensus coding sequences : CCDS (NCBI)LTBP1
Cluster EST : UnigeneHs.619315 [ NCBI ]
CGAP (NCI)Hs.619315
Alternative Splicing GalleryENSG00000049323
Gene ExpressionLTBP1 [ NCBI-GEO ]   LTBP1 [ EBI - ARRAY_EXPRESS ]   LTBP1 [ SEEK ]   LTBP1 [ MEM ]
Gene Expression Viewer (FireBrowse)LTBP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4052
GTEX Portal (Tissue expression)LTBP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14766 (Uniprot)
NextProtQ14766  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14766
Splice isoforms : SwissVarQ14766 (Swissvar)
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)EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    Growth_fac_rcpt_    TB_dom   
Domain families : Pfam (Sanger)EGF_CA (PF07645)    TB (PF00683)   
Domain families : Pfam (NCBI)pfam07645    pfam00683   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  
DMDM Disease mutations4052
Blocks (Seattle)LTBP1
PDB (SRS)1KSQ   
PDB (PDBSum)1KSQ   
PDB (IMB)1KSQ   
PDB (RSDB)1KSQ   
Structural Biology KnowledgeBase1KSQ   
SCOP (Structural Classification of Proteins)1KSQ   
CATH (Classification of proteins structures)1KSQ   
SuperfamilyQ14766
Human Protein AtlasENSG00000049323
Peptide AtlasQ14766
HPRD01039
IPIIPI00784258   IPI00302679   IPI00894247   IPI00973177   IPI00973086   IPI00220249   IPI00929158   IPI00893273   IPI00893975   IPI00893279   IPI00893543   IPI00893691   
Protein Interaction databases
DIP (DOE-UCLA)Q14766
IntAct (EBI)Q14766
FunCoupENSG00000049323
BioGRIDLTBP1
STRING (EMBL)LTBP1
ZODIACLTBP1
Ontologies - Pathways
QuickGOQ14766
Ontology : AmiGOmicrofibril  ventricular septum development  transforming growth factor beta-activated receptor activity  calcium ion binding  protein binding  extracellular region  proteinaceous extracellular matrix  transmembrane receptor protein serine/threonine kinase signaling pathway  extracellular matrix  extracellular matrix  sequestering of TGFbeta in extracellular matrix  aorta development  protein complex  transforming growth factor beta binding  microfibril binding  coronary vasculature development  
Ontology : EGO-EBImicrofibril  ventricular septum development  transforming growth factor beta-activated receptor activity  calcium ion binding  protein binding  extracellular region  proteinaceous extracellular matrix  transmembrane receptor protein serine/threonine kinase signaling pathway  extracellular matrix  extracellular matrix  sequestering of TGFbeta in extracellular matrix  aorta development  protein complex  transforming growth factor beta binding  microfibril binding  coronary vasculature development  
Pathways : KEGGTGF-beta signaling pathway   
NDEx Network
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: TCGALTBP1 2p22.3 BIRC6 2p22.3 BRCA LAML LUSC
Fusion: TCGALTBP1 2p22.3 CDH23 10q22.1 BRCA
Fusion: TCGALTBP1 2p22.3 PLB1 2p23.2 BLCA
Fusion: TCGALTBP1 2p22.3 TTC27 2p22.3 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerLTBP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LTBP1
dbVarLTBP1
ClinVarLTBP1
1000_GenomesLTBP1 
Exome Variant ServerLTBP1
ExAC (Exome Aggregation Consortium)LTBP1 (select the gene name)
Genetic variants : HAPMAP4052
Genomic Variants (DGV)LTBP1 [DGVbeta]
Mutations
ICGC Data PortalLTBP1 
TCGA Data PortalLTBP1 
Broad Tumor PortalLTBP1
OASIS PortalLTBP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLTBP1 
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 LTBP1
DgiDB (Drug Gene Interaction Database)LTBP1
DoCM (Curated mutations)LTBP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LTBP1 (select a term)
intoGenLTBP1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:33359664-33624575  ENSG00000049323
CONAN: Copy Number AnalysisLTBP1 
Mutations and Diseases : HGMDLTBP1
OMIM150390   
MedgenLTBP1
Genetic Testing Registry LTBP1
NextProtQ14766 [Medical]
TSGene4052
GENETestsLTBP1
Huge Navigator LTBP1 [HugePedia]
snp3D : Map Gene to Disease4052
BioCentury BCIQLTBP1
ClinGenLTBP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4052
Chemical/Pharm GKB GenePA30477
Clinical trialLTBP1
Miscellaneous
canSAR (ICR)LTBP1 (select the gene name)
Probes
Litterature
PubMed80 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLTBP1
EVEXLTBP1
GoPubMedLTBP1
iHOPLTBP1
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 : Tue Aug 9 19:05:17 CEST 2016

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