Aliases for LTBP1 Gene
Aliases for LTBP1 Gene
External Ids for LTBP1 Gene
- HGNC: 6714
- Entrez Gene: 4052
- Ensembl: ENSG00000049323
- OMIM: 150390
- UniProtKB: Q14766
Previous GeneCards Identifiers for LTBP1 Gene
- GC02P033130
- GC02P033311
- GC02P033146
- GC02P033084
- GC02P033026
- GC02P033172
- GC02P032905
Summaries for LTBP1 Gene
-
The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
GeneCards Summary for LTBP1 Gene
LTBP1 (Latent Transforming Growth Factor Beta Binding Protein 1) is a Protein Coding gene. Diseases associated with LTBP1 include Geleophysic Dysplasia and Bone Fracture. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and PAK Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and transforming growth factor beta binding. An important paralog of this gene is LTBP2.
UniProtKB/Swiss-Prot for LTBP1 Gene
-
May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role in the extracellular matrix (ECM).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LTBP1 Gene
Genomics for LTBP1 Gene
GeneHancer (GH) Regulatory Elements for LTBP1 Gene
Promoters and enhancers for LTBP1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH02I033132 | Promoter/Enhancer | 2.2 | EPDnew Ensembl ENCODE dbSUPER | 550.1 | +188.2 | 188167 | 5.1 | FOXA2 FEZF1 ZBTB40 ZNF2 RAD21 YY1 NCOA2 ZNF335 ZNF366 ZSCAN5C | LTBP1 TYW1P1 GC02P033183 | |
| GH02I032946 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE | 550.8 | +0.6 | 597 | 2.8 | ATF1 ARID4B SIN3A FEZF1 ZNF2 ZNF48 YY1 GLIS2 ZNF143 RUNX3 | LTBP1 ENSG00000236854 ENSG00000223951 | |
| GH02I033209 | Enhancer | 1.5 | FANTOM5 Ensembl ENCODE dbSUPER | 42.9 | +266.3 | 266261 | 8.4 | HDAC1 PKNOX1 FOXA2 ZNF133 FEZF1 RAD21 YY1 SCRT2 FOS RXRA | LTBP1 FAM98A GC02P033183 GC02M033258 | |
| GH02I033157 | Enhancer | 1.1 | FANTOM5 Ensembl ENCODE dbSUPER | 56.5 | +212.1 | 212131 | 3.8 | JUND POLR2A JUN FOS | LTBP1 FAM98A GC02P033183 TYW1P1 | |
| GH02I033165 | Enhancer | 0.7 | ENCODE dbSUPER | 52.9 | +219.9 | 219936 | 2.8 | JUND GATA3 POLR2A FOXA1 | LTBP1 GC02P033183 TYW1P1 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around LTBP1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for LTBP1 Gene
Genomic Locations for LTBP1 Gene
- chr2:32,946,972-33,399,509
- (GRCh38/hg38)
- Size:
- 452,538 bases
- Orientation:
- Plus strand
- chr2:33,172,039-33,624,576
- (GRCh37/hg19)
Genomic View for LTBP1 Gene
Genes around LTBP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p22.3 by Ensembl
- 2p22.3 by Entrez Gene
- 2p22.3 by HGNC
LTBP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for LTBP1 Gene
Proteins for LTBP1 Gene
-
Protein details for LTBP1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q14766-LTBP1_HUMAN
- Recommended name:
- Latent-transforming growth factor beta-binding protein 1
- Protein Accession:
- Q14766
- A1L3V1
- P22064
- Q53SD8
- Q53SF3
- Q53SG1
- Q59HF7
- Q8TD95
Protein attributes for LTBP1 Gene
- Size:
- 1721 amino acids
- Molecular mass:
- 186796 Da
- Quaternary structure:
-
- The large latent complex of TGFB1 from platelets is composed of the TGFB1 molecule non-covalently associated with a disulfide-bonded complex of a dimer of the N-terminal propeptide of the TGFB1 precursor and LTBP1. LTBP1 does not bind directly to active TGFB1 (PubMed:10930463). Interacts with FBN2 (PubMed:12429738). Interacts with ADAMTSL2 (PubMed:18677313). Interacts (via C-terminal domain) with FBN1 (via N-terminal domain) (PubMed:17293099, PubMed:12429738).
- SequenceCaution:
-
- Sequence=BAD92038.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Alternative splice isoforms for LTBP1 Gene
- UniProtKB/Swiss-Prot:
Protein Expression for LTBP1 Gene
Post-translational modifications for LTBP1 Gene
- Contains hydroxylated asparagine residues.
- Isoform Short N-terminus is blocked.
- The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
- Two intrachain disulfide bonds from the TB3 domain are rearranged upon TGFB1 binding, and form interchain bonds with TGFB1 propeptide, anchoring it to the extracellular matrix.
- Glycosylation at isoforms=4296, isoforms=4326, isoforms=3, 4, 5, 2347, isoforms=3, 4, 5, 2357, isoforms=3, 4, 5, 2378, posLast=424424, isoforms=3, 4, 5, 2438, posLast=461461, posLast=467467, posLast=501501, posLast=539539, isoforms=3, 4, 5, 2620, isoforms=4, 5, 2768, posLast=810810, isoforms=3, 4, 5, 21197, isoforms=3, 4, 5, 21250, isoforms=3, 4, 5, 21333, and isoforms=3, 4, 5, 21366
Other Protein References for LTBP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for LTBP1 (Latent TGF-beta bp1)
-
Custom Antibody ServicesOriGene Antibodies for LTBP1
- Novus Biologicals Antibodies for LTBP1
-
Abcam antibodies for LTBP1
-
Cloud-Clone Corp. Antibodies for LTBP1
- Invitrogen Antibodies for LTBP1
- Search GeneTex for Antibodies for LTBP1
-
Santa Cruz Biotechnology (SCBT) Antibodies for LTBP1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for LTBP1
- Origene Custom Protein Services for LTBP1
- Novus Biologicals proteins for LTBP1
-
Cloud-Clone Corp. Proteins for LTBP1
- Search GeneTex for Proteins for LTBP1
-
Abcam proteins for LTBP1
Assay Products
No data available for DME Specific Peptides for LTBP1 Gene
Domains & Families for LTBP1 Gene
Gene Families for LTBP1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for LTBP1 Gene
Suggested Antigen Peptide Sequences for LTBP1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q14766UniProtKB/Swiss-Prot:
LTBP1_HUMAN :- Associates covalently with small latent TGF-beta complex via domain TB 3.
- Belongs to the LTBP family.
- Domain:
-
- Associates covalently with small latent TGF-beta complex via domain TB 3.
- Family:
-
- Belongs to the LTBP family.
Function for LTBP1 Gene
Molecular function for LTBP1 Gene
- GENATLAS Biochemistry:
- latent transforming growth factor beta,binding protein 1,with homology to LTBP2 and fibrillin
- UniProtKB/Swiss-Prot Function:
- May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role in the extracellular matrix (ECM).
LifeMap Function Summary for LTBP1 Gene
It affects the following cells:
- Head Mesenchyme
- Heart
Phenotypes From GWAS Catalog for LTBP1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005024 | transforming growth factor beta-activated receptor activity | NAS | 8537398 |
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 12429738 |
| GO:0019838 | growth factor binding | IEA | -- |
| GO:0050431 | transforming growth factor beta binding | IPI | 10930463 |
Phenotypes for LTBP1 Gene
- MGI mutant phenotypes for LTBP1:
-
inferred from 6 alleles
- nervous system phenotype
- homeostasis/metabolism phenotype
- muscle phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- growth/size/body region phenotype
- integument phenotype
- embryo phenotype
- hematopoietic system phenotype
- skeleton phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- craniofacial phenotype
- adipose tissue phenotype
- limbs/digits/tail phenotype
- GenomeRNAi human phenotypes for LTBP1:
Animal Models for LTBP1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for LTBP1
-
- Search ViGene Biosciences for LTBP1
CRISPR Products
-
OriGene CRISPR knockouts for LTBP1
- genomics-online: gRNA clones - Search results for 107 available LTBP1 gene related products
- Overview of 107 available LTBP1 gene related products
- Applied Biological Materials CRISPR for LTBP1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LTBP1
- GenScript: Design CRISPR guide RNA sequences for LTBP1
miRNA for LTBP1 Gene
- miRTarBase miRNAs that target LTBP1
miRNA Products
- Search ViGene Biosciences for LTBP1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for LTBP1
- Browse OriGene Inhibitory RNA Products For LTBP1
- genomics-online: shRNA clones - Search results for 107 available LTBP1 gene related products
- Overview of 107 available LTBP1 gene related products
Clone Products
-
OriGene ORF clones in human for LTBP1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for LTBP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for LTBP1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for LTBP1
- Applied Biological Materials Clones for LTBP1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for LTBP1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LTBP1 Gene
Localization for LTBP1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for LTBP1 Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| plasma membrane | 2 |
| nucleus | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001527 | microfibril | IDA | 12429738 |
| GO:0005576 | extracellular region | TAS,IDA | -- |
| GO:0005578 | proteinaceous extracellular matrix | NAS | 8537398 |
| GO:0005615 | extracellular space | IEA | -- |
| GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
Pathways & Interactions for LTBP1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Apoptotic Pathways in Synovial Fibroblasts |
.74
.66
|
.65
.61
.60
.57
|
| 2 | GPCR Pathway |
.73
.62
|
.55
|
| 3 | ERK Signaling |
.61
.58
|
.49
|
| 4 | Nanog in Mammalian ESC Pluripotency |
.61
|
.48
|
| 5 | CREB Pathway |
.68
.68
|
|
Pathways by source for LTBP1 Gene
1 GeneTex pathway for LTBP1 Gene
2 BioSystems pathways for LTBP1 Gene
3 Reactome pathways for LTBP1 Gene
1 KEGG pathway for LTBP1 Gene
Interacting Proteins for LTBP1 Gene
Selected Interacting proteins:
ENSP00000386043
Q14766-LTBP1_HUMAN
for LTBP1 Gene via
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003281 | ventricular septum development | IEA | -- |
| GO:0007178 | transmembrane receptor protein serine/threonine kinase signaling pathway | IEA | -- |
| GO:0035583 | sequestering of TGFbeta in extracellular matrix | TAS | 18677313 |
| GO:0035904 | aorta development | IEA | -- |
| GO:0043687 | post-translational protein modification | TAS | -- |
Transcripts for LTBP1 Gene
mRNA/cDNA for LTBP1 Gene
- (19) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (257) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for LTBP1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for LTBP1
- genomics-online: gRNA clones - Search results for 107 available LTBP1 gene related products
- Overview of 107 available LTBP1 gene related products
- Applied Biological Materials CRISPR for LTBP1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LTBP1
- GenScript: Design CRISPR guide RNA sequences for LTBP1
miRNA Products
- Search ViGene Biosciences for LTBP1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for LTBP1
- Browse OriGene Inhibitory RNA Products For LTBP1
- genomics-online: shRNA clones - Search results for 107 available LTBP1 gene related products
- Overview of 107 available LTBP1 gene related products
Clone Products
-
OriGene ORF clones in human for LTBP1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for LTBP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for LTBP1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for LTBP1
- Applied Biological Materials Clones for LTBP1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for LTBP1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Proximal Tubule Cells Proximal Tubule
- Medullary Stroma Cells Interstitial Stroma
- Distal Tubule Cells Distal Tubule
- Glomerulus
- Distal Tubule
-
Hair (Integumentary System)
- Outer Root Sheath Cells Outer Root Sheath
- Zigzag Dermal Papilla Cells Dermal Papilla
- Guard Dermal Papilla Cells Dermal Papilla
-
Epithelial Cells
- Outer Root Sheath Cells Outer Root Sheath
- Proximal Tubule Cells Proximal Tubule
- Distal Tubule Cells Distal Tubule
-
Eye (Sensory Organs)
- nGnG Amacrine Cells Inner Nuclear Layer
- Corneal Epithelium
-
Dermis (Integumentary System)
- Zigzag Dermal Papilla Cells Dermal Papilla
- Guard Dermal Papilla Cells Dermal Papilla
-
Intermediate Mesoderm (Gastrulation Derivatives)
- Mesonephric cells Mesonephros
- Mesonephros
-
Ovary (Reproductive System)
- Cumulus Cells Antral Follicle
-
Neurons
- nGnG Amacrine Cells Inner Nuclear Layer
-
Gonad
- Mesonephric cells Mesonephros
- Blood (Hematopoietic System)
- Lateral Plate Mesoderm (Gastrulation Derivatives)
- Paraxial Mesoderm (Gastrulation Derivatives)
-
Uterus (Reproductive System)
-
Placenta (Extraembryonic Tissues)
-
Gall Bladder (Hepatobiliary System)
-
Bone (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for LTBP1 Gene
This gene is overexpressed in Artery - Aorta (x10.0), Artery - Coronary (x7.1), and Artery - Tibial (x6.7).
This gene is overexpressed in Platelet (25.0), Peripheral blood mononuclear cells (20.6), and Serum (13.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LTBP1 Gene
NURSA nuclear receptor signaling pathways regulating expression of LTBP1 Gene:
LTBP1SOURCE GeneReport for Unigene cluster for LTBP1 Gene:
Hs.619315mRNA Expression by UniProt/SwissProt for LTBP1 Gene:
Q14766-LTBP1_HUMAN
Tissue specificity:
Expressed in the aorta (at protein level). Isoform Long is found in fibroblasts.
Evidence on tissue expression from TISSUES for LTBP1 Gene
- Lung(4.8)
- Nervous system(4.7)
- Liver(4.3)
- Blood(4.2)
- Bone(3.5)
- Heart(2.4)
- Muscle(2.3)
- Eye(2.2)
- Kidney(2)
Primer Products
-
OriGene qPCR primer pairs for LTBP1
- genomics-online: primer clones - Search results for 107 available LTBP1 gene related products
- Overview of 107 available LTBP1 gene related products
No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for LTBP1 Gene
Orthologs for LTBP1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LTBP1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | LTBP1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | LTBP1 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ltbp1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Ltbp1 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | LTBP1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | LTBP1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | LTBP1 33 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | LTBP1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ltbp1 33 |
|
||
| Str.20370 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | LTGF-1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ltbp1 33 |
|
||
| LTBP1 34 |
|
OneToOne | |||
| fruit fly (Drosophila melanogaster) |
Insecta | CG32373 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | B0393.5 35 |
|
|
|
| ZK783.1 35 |
|
|
- Species where no ortholog for LTBP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for LTBP1 Gene
Paralogs for LTBP1 Gene
(14) SIMAP similar genes for LTBP1 Gene using alignment to 10 proteins:
Variants for LTBP1 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000001962 | -- | 32,955,011(+) | G/A | genic_upstream_transcript_variant, intron_variant | |
| rs1000002632 | -- | 33,126,348(+) | A/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000006566 | -- | 33,178,426(+) | G/A | intron_variant | |
| rs1000011226 | -- | 33,292,985(+) | C/T | intron_variant | |
| rs1000015870 | -- | 33,167,783(+) | C/T | intron_variant |
Residual Variation Intolerance Score:
34.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.77;
73.52% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for LTBP1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LTBP1 Gene
Disorders for LTBP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| geleophysic dysplasia |
|
|
| bone fracture |
|
|
| pulmonary fibrosis, idiopathic |
|
|
Search LTBP1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for LTBP1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for LTBP1 Gene
Publications for LTBP1 Gene
- The latent transforming growth factor beta binding protein (LTBP) family. (PMID: 11104663) Oklü R … Hesketh R (The Biochemical journal 2000) 2 3 4 22 58
- LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein. (PMID: 17293099) Hirani R … Gibson MA (Matrix biology : journal of the International Society for Matrix Biology 2007) 3 4 22 58
- Novel functional single nucleotide polymorphisms in the latent transforming growth factor-beta binding protein-1L promoter: effect on latent transforming growth factor-beta binding protein-1L expression level and possible prognostic significance in ovarian cancer. (PMID: 16825507) Higashi T … Saijoh K (The Journal of molecular diagnostics : JMD 2006) 3 22 44 58
- Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. (PMID: 12429738) Isogai Z … Sakai LY (The Journal of biological chemistry 2003) 3 4 22 58
- Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta. (PMID: 10930463) Saharinen J … Keski-Oja J (Molecular biology of the cell 2000) 3 4 22 58
Products for LTBP1 Gene
- R&D Systems Antibodies for LTBP1 (Latent TGF-beta bp1)
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- Custom Antibody ServicesOriGene Antibodies for LTBP1
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- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for LTBP1
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for LTBP1
- Novus Biologicals proteins for LTBP1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for LTBP1
- Abcam proteins for LTBP1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Cloud-Clone Corp. Antibodies for LTBP1
- Cloud-Clone Corp. Proteins for LTBP1
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for LTBP1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for LTBP1
- VectorBuilder custom plasmid, inducible vectors for LTBP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for LTBP1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for LTBP1
- antibodies-online: Search results for 38 available LTBP1 Antibodies ranked by validation data
- Compare Top LTBP1 Antibodies
- antibodies-online: Search results for 19 available LTBP1 Elisa Kits ranked by validation data
- Compare Top LTBP1 Elisa Kits
- antibodies-online: Search results for 3 available LTBP1 Proteins ranked by validation data
- Compare Top LTBP1 Proteins
- Search GeneTex for Antibodies for LTBP1
- Search GeneTex for Proteins for LTBP1
- Search ViGene Biosciences for LTBP1
- Santa Cruz Biotechnology (SCBT) Antibodies for LTBP1
- Search Santa Cruz Biotechnology (SCBT) for LTBP1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for LTBP1
- Horizon Cell Lines for LTBP1
- genomics-online: cdna clones - Search results for 107 available LTBP1 gene related products
- Overview of 107 available LTBP1 gene related products
- orf clones - Search results for 107 available LTBP1 gene related products
- Overview of 107 available LTBP1 gene related products
- genomics-online: gRNA clones - Search results for 107 available LTBP1 gene related products
- Overview of 107 available LTBP1 gene related products
- genomics-online: primer clones - Search results for 107 available LTBP1 gene related products
- Overview of 107 available LTBP1 gene related products
- genomics-online: shRNA clones - Search results for 107 available LTBP1 gene related products
- Overview of 107 available LTBP1 gene related products
Sources for LTBP1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew