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LTBP1 (latent transforming growth factor beta binding protein 1)

Identity

Other names-
HGNC (Hugo) LTBP1
LocusID (NCBI) 4052
Location 2p22.3
Location_base_pair Starts at 33359664 and ends at 33624575 bp from pter ( according to hg19-Feb_2009)
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
GeneCards (Weizmann)LTBP1
Ensembl (Hinxton)ENSG00000049323 [Gene_View]  chr2:33359664-33624575 [Contig_View]  LTBP1 [Vega]
ICGC DataPortalENSG00000049323
cBioPortalLTBP1
AceView (NCBI)LTBP1
Genatlas (Paris)LTBP1
WikiGenes4052
SOURCE (Princeton)NM_000627 NM_001166264 NM_001166265 NM_001166266 NM_206943
Genomic and cartography
GoldenPath (UCSC)LTBP1  -  2p22.3   chr2:33359664-33624575 +  2p22.3   [Description]    (hg19-Feb_2009)
EnsemblLTBP1 - 2p22.3 [CytoView]
Mapping of homologs : NCBILTBP1 [Mapview]
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)AC_000134 NC_000002 NC_018913 NT_022184 NW_001838769 NW_004929300
Consensus coding sequences : CCDS (NCBI)LTBP1
Cluster EST : UnigeneHs.619315 [ NCBI ]
CGAP (NCI)Hs.619315
Alternative Splicing : Fast-db (Paris)GSHG0016370
Alternative Splicing GalleryENSG00000049323
Gene ExpressionLTBP1 [ NCBI-GEO ]     LTBP1 [ SEEK ]   LTBP1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14766 (Uniprot)
NextProtQ14766  [Medical]
With graphics : InterProQ14766
Splice isoforms : SwissVarQ14766 (Swissvar)
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    TB (PS51364)   
Domains : Interpro (EBI)EG-like_dom [organisation]   EGF-like_Ca-bd_dom [organisation]   EGF-like_CS [organisation]   EGF-type_Asp/Asn_hydroxyl_site [organisation]   EGF_Ca-bd_CS [organisation]   Growth_fac_rcpt_N_dom [organisation]   TB_dom [organisation]  
Related proteins : CluSTrQ14766
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)Q14766
PDB (SRS)1KSQ   
PDB (PDBSum)1KSQ   
PDB (IMB)1KSQ   
PDB (RSDB)1KSQ   
Human Protein AtlasENSG00000049323 [gene] [tissue] [antibody] [cell] [cancer]
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
InParanoidQ14766
Interologous Interaction database Q14766
IntegromeDBLTBP1
STRING (EMBL)LTBP1
Ontologies - Pathways
Ontology : AmiGOtransforming 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 organization  extracellular matrix  extracellular matrix  sequestering of TGFbeta in extracellular matrix  transforming growth factor beta binding  
Ontology : EGO-EBItransforming 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 organization  extracellular matrix  extracellular matrix  sequestering of TGFbeta in extracellular matrix  transforming growth factor beta binding  
Pathways : KEGGTGF-beta signaling pathway   
Protein Interaction DatabaseLTBP1
Wikipedia pathwaysLTBP1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)LTBP1
snp3D : Map Gene to Disease4052
SNP (GeneSNP Utah)LTBP1
SNP : HGBaseLTBP1
Genetic variants : HAPMAPLTBP1
Exome VariantLTBP1
1000_GenomesLTBP1 
ICGC programENSG00000049323 
Somatic Mutations in Cancer : COSMICLTBP1 
CONAN: Copy Number AnalysisLTBP1 
Mutations and Diseases : HGMDLTBP1
Mutations and Diseases : intOGenLTBP1
Genomic VariantsLTBP1  LTBP1 [DGVbeta]
dbVarLTBP1
ClinVarLTBP1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM150390   
MedgenLTBP1
GENETestsLTBP1
Disease Genetic AssociationLTBP1
Huge Navigator LTBP1 [HugePedia]  LTBP1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneLTBP1
Homology/Alignments : Family Browser (UCSC)LTBP1
Phylogenetic Trees/Animal Genes : TreeFamLTBP1
Chemical/Protein Interactions : CTD4052
Chemical/Pharm GKB GenePA30477
Clinical trialLTBP1
Cancer Resource (Charite)ENSG00000049323
Other databases
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
CoreMineLTBP1
iHOPLTBP1
OncoSearchLTBP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 19:00:53 CEST 2014

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