Free for academic non-profit institutions. Other users need a Commercial license
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 late... See more...
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
- GC02P032946
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 Acromicric Dysplasia. Among its related pathways are Degradation of the extracellular matrix and NF-KappaB Family 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 Summary for LTBP1 Gene
-
Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space (PubMed:2022183, PubMed:8617200, PubMed:8939931). Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta (PubMed:8617200, PubMed:8939931, PubMed:15184403). Outcompeted by LRRC32/GARP for binding to LAP regulatory chain of TGF-beta (PubMed:22278742).
Additional gene information for LTBP1 Gene
- HGNC(6714)
- Entrez Gene(4052)
- Ensembl(ENSG00000049323)
- OMIM(150390)
- UniProtKB(Q14766)
- Open Targets Platform(ENSG00000049323)
- Search for LTBP1 at DataMed
- Search for LTBP1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LTBP1 Gene
Genomics for LTBP1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for LTBP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around LTBP1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LTBP1
- Top Transcription factor binding sites by QIAGEN in the LTBP1 gene promoter:
-
- Egr-3
- FOXD1
- Ik-2
- Lmo2
- Meis-1
- Meis-1a
- Meis-1b
- MyoD
- POU2F1
- POU2F1a
Genomic Locations for LTBP1 Gene
Genomic Locations for LTBP1 Gene
- chr2:32,902,129-33,399,509
- (GRCh38/hg38)
- Size:
- 497,381 bases
- Orientation:
- Plus strand
- chr2:33,172,039-33,624,576
- (GRCh37/hg19)
- Size:
- 452,538 bases
- Orientation:
- Plus strand
Genomic View for LTBP1 Gene
Genes around LTBP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p22.3 by HGNC
- 2p22.3 by Entrez Gene
- 2p22.3 by Ensembl
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:
-
- Interacts with TGFB1; associates via disulfide bonds with the Latency-associated peptide chain (LAP) regulatory chain of TGFB1, leading to regulate activation of TGF-beta-1 (PubMed:10930463, PubMed:2022183, PubMed:8617200, PubMed:15567420, PubMed:8939931, PubMed:22278742). LTBP1 does not bind directly to TGF-beta-1, the active chain of TGFB1 (PubMed:10930463). Interacts (via C-terminal domain) with FBN1 (via N-terminal domain) (PubMed:12429738, PubMed:17293099). Interacts with FBN2 (PubMed:12429738). Interacts with ADAMTSL2 (PubMed:18677313).
- SequenceCaution:
-
- Sequence=BAD92038.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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.
- 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 Asn347, Thr357, Asn378, Asn424, Ser438, Ser460, Thr461, Thr463, Thr467, Thr469, Ser470, Asn167, Ser501, Thr533, Ser536, Thr537, Ser539, Asn620, Ser296, Thr304, Thr326, Thr801, Ser810, Ser768, Thr769, Thr785, Asn1163, Asn1197, Asn1250, Thr1333, and Asn1366
- NX_Q14766 (NX_Q14766-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- LTBP1_HUMAN (329)
Other Protein References for LTBP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_005264374.1
- XP_005264375.1
- XP_011531155.1
- XP_011531157.1
- XP_011531158.1
- XP_011531159.1
- XP_011531160.1
- XP_011531161.1
- XP_011531162.1
- XP_011531163.1
- XP_011531164.1
- XP_016859597.1
- XP_016859598.1
- XP_016859599.1
- XP_024308656.1
- XP_024308657.1
- XP_024308658.1
- NP_000618.4
- NP_001159736.2
- NP_001159737.2
- NP_001159738.2
- NP_996826.3
Antibody Products
- G Biosciences Immunotag™ LTBP1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for LTBP1
- Novus Biologicals Antibodies for LTBP1
-
Abcam antibodies for LTBP1
- Invitrogen Antibodies for LTBP1 (AFLGC-LTBP1)
-
Biorbyt antibodies for LTBP1
-
Boster Bio 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
-
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
- InterPro:
- Blocks:
-
- Aspartic acid and asparagine hydroxylation site
- EGF-like calcium-binding
- Matrix fibril-associated
- ProtoNet:
Suggested Antigen Peptide Sequences for LTBP1 Gene
- GenScript: Design optimal peptide antigens:
-
- LTBP1 protein (B7ZLY3_HUMAN)
- Transforming growth factor beta-1-binding protein 1 (LTBP1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q14766UniProtKB/Swiss-Prot:
LTBP1_HUMAN :- The 8-Cys3 region in the third TB domain mediates the interchain disulfide bond interaction with the Latency-associated peptide chain (LAP) regulatory chain of TGFB1.
- Belongs to the LTBP family.
- Domain:
-
- The 8-Cys3 region in the third TB domain mediates the interchain disulfide bond interaction with the Latency-associated peptide chain (LAP) regulatory chain of TGFB1.
- Family:
-
- Belongs to the LTBP family.
Function for LTBP1 Gene
Molecular function for LTBP1 Gene
- UniProtKB/Swiss-Prot Function:
- Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space (PubMed:2022183, PubMed:8617200, PubMed:8939931). Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta (PubMed:8617200, PubMed:8939931, PubMed:15184403). Outcompeted by LRRC32/GARP for binding to LAP regulatory chain of TGF-beta (PubMed:22278742).
- GENATLAS Biochemistry:
- latent transforming growth factor beta,binding protein 1,with homology to LTBP2 and fibrillin
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:0005201 | extracellular matrix structural constituent | RCA | 20551380 |
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 12429738 |
| GO:0019838 | growth factor binding | IEA | -- |
Phenotypes for LTBP1 Gene
- MGI mutant phenotypes for LTBP1:
-
inferred from 6 alleles
- nervous system phenotype
- immune system phenotype
- cardiovascular system phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- hematopoietic system phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for LTBP1:
Animal Models for LTBP1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for LTBP1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for LTBP1 - Select products 50% OFF >
- * LTBP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for LTBP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LTBP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for LTBP1
miRNA for LTBP1 Gene
- miRTarBase miRNAs that target LTBP1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LTBP1
- Browse OriGene Inhibitory RNA Products For LTBP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LTBP1
Clone Products
- Applied Biological Materials (abm): Clones for LTBP1 - Select products 50% OFF >
- * LTBP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for LTBP1
- Addgene plasmids for LTBP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LTBP1
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. Secreted, extracellular space, extracellular matrix.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 4 |
| nucleus | 3 |
| cytosol | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001527 | microfibril | IDA | 12429738 |
| GO:0005576 | extracellular region | HDA,TAS | -- |
| GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
| GO:0031012 | extracellular matrix | NAS | 8537398 |
| GO:0032991 | protein-containing complex | IDA | 12429738 |
Pathways & Interactions for LTBP1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
|
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
|
| 2 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
|
| 3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
| 4 | Nanog in Mammalian ESC Pluripotency |
GSK3 Signaling
.62
Nanog in Mammalian ESC Pluripotency
.62
|
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
|
| 5 | CREB Pathway |
CREB Pathway
.68
IP3 Pathway
.68
|
Activation of PKC through GPCR
.63
Intracellular Calcium Signaling
.50
|
Pathways by source for LTBP1 Gene
2 BioSystems pathways for LTBP1 Gene
3 Reactome pathways for LTBP1 Gene
1 KEGG pathway for LTBP1 Gene
54 Qiagen pathways for LTBP1 Gene
- 14-3-3 Induced Intracellular Signaling
- Actin-Based Motility by Rho Family GTPases
- Activation of cAMP-Dependent PKA
- Activation of PKA through GPCR
- Activation of PKC through GPCR
1 GeneTex pathway for LTBP1 Gene
Interacting Proteins for LTBP1 Gene
Selected Interacting proteins:
Q14766-LTBP1_HUMAN
ENSP00000386043
for LTBP1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for LTBP1
| 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 | IDA,TAS | 18677313 |
| GO:0035904 | aorta development | IEA | -- |
| GO:0043687 | post-translational protein modification | TAS | -- |
Transcripts for LTBP1 Gene
mRNA/cDNA for LTBP1 Gene
- 5 REFSEQ mRNAs :
- 21 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000402934 4948 nts (view in UCSC)
- ENST00000404525 5092 nts (view in UCSC)
- ENST00000404816 6502 nts (view in UCSC)
- ENST00000407925 5087 nts (view in UCSC)
- ENST00000413303 713 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for LTBP1 - Select products 50% OFF >
- * LTBP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for LTBP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LTBP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for LTBP1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LTBP1
- Browse OriGene Inhibitory RNA Products For LTBP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LTBP1
Clone Products
- Applied Biological Materials (abm): Clones for LTBP1 - Select products 50% OFF >
- * LTBP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for LTBP1
- Addgene plasmids for LTBP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LTBP1
Relevant External Links for LTBP1 Gene
- GeneLoc Exon Structure for
- LTBP1
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, MaxQB, and MOPED for LTBP1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LTBP1
SOURCE 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) (PubMed:17293099). Isoform Long: Expressed in fibroblasts (PubMed:17293099).
Evidence on tissue expression from TISSUES for LTBP1 Gene
- Nervous system(4.8)
- Lung(4.8)
- Blood(4.5)
- Liver(4.5)
- Bone(3.8)
- Heart(3.1)
- Muscle(3)
- Eye(2.8)
- Kidney(2.7)
- Skin(2.3)
- Intestine(2.1)
Primer Products
-
OriGene qPCR primer pairs for LTBP1
Gene Expression Assay 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 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | LTBP1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | LTBP1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ltbp1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Ltbp1 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | LTBP1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | LTBP1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | LTBP1 30 |
|
||
| Lizard (Anolis carolinensis) |
Reptilia | LTBP1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ltbp1 30 |
|
||
| Str.20370 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | LTGF-1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ltbp1 30 |
|
||
| LTBP1 31 |
|
OneToOne | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG32373 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | B0393.5 32 |
|
|
|
| ZK783.1 32 |
|
|
- Species where no ortholog for LTBP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
Evolution for LTBP1 Gene
- ENSEMBL:
- Gene Tree for LTBP1 (if available)
- TreeFam:
- Gene Tree for LTBP1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for LTBP1: view image
Paralogs for LTBP1 Gene
(14) SIMAP similar genes for LTBP1 Gene using alignment to 10 proteins:
- LTBP1_HUMAN
- B7ZLY3_HUMAN
- C9JD84_HUMAN
- C9JDW2_HUMAN
- E7EUU6_HUMAN
- E7EV71_HUMAN
- H7BZ76_HUMAN
- H7C0I7_HUMAN
- H7C2H7_HUMAN
- H7C4L5_HUMAN
Variants for LTBP1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LTBP1 Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 710311 | Benign: not provided | 33,188,841(+) | T/C | MISSENSE_VARIANT | |
| 711325 | Benign: not provided | 33,262,794(+) | A/G | MISSENSE_VARIANT | |
| 713933 | Benign: not provided | 33,280,135(+) | G/A | MISSENSE_VARIANT | |
| 717568 | Likely Benign: not provided | 33,347,499(+) | G/A | MISSENSE_VARIANT | |
| 727526 | Benign: not provided | 33,397,215(+) | C/G | SYNONYMOUS_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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LTBP1 Gene
Disorders for LTBP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| geleophysic dysplasia |
|
|
| acromicric dysplasia |
|
|
| megalocornea |
|
|
| weill-marchesani syndrome |
|
|
| isolated ectopia lentis |
|
|
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
- Open Targets Platform
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 23
- 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 23
- 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 23 41
- Sequential deposition of latent TGF-beta binding proteins (LTBPs) during formation of the extracellular matrix in human lung fibroblasts. (PMID: 16157329) Koli K … Keski-Oja J (Experimental cell research 2005) 3 4 23
- 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 23
ExternalLinks
Products for LTBP1 Gene
- Custom Antibody ServicesOriGene Antibodies for LTBP1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for LTBP1
- Origene Custom Protein Services for LTBP1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LTBP1
- Browse OriGene Inhibitory RNA Products For LTBP1
- OriGene qPCR primer pairs for LTBP1
- OriGene CRISPR knockouts for LTBP1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For LTBP1
- Sino Biological Human cDNA Clone for LTBP1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for LTBP1
- Novus Biologicals proteins for LTBP1
- 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
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for LTBP1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for LTBP1 (AFLGC-LTBP1)
- VectorBuilder Custom and pre-made DNA vectors for LTBP1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for LTBP1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for LTBP1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for LTBP1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for LTBP1
- Addgene plasmids for LTBP1
- antibodies-online: Show 4 available LTBP1 Antibodies ranked by validation data
- Compare Top LTBP1 Antibodies
- antibodies-online: Show 20 available LTBP1 Elisa Kits ranked by validation data
- Compare Top LTBP1 Elisa Kits
- antibodies-online: Show 4 available LTBP1 Proteins ranked by validation data
- Compare Top LTBP1 Proteins
- 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
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LTBP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LTBP1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for LTBP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LTBP1
- Boster Bio Antibodies for LTBP1
- Browse Boster Bio ELISA Kits
- Biorbyt antibodies for LTBP1
Sources for LTBP1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB