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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
- NCBI Entrez Gene: 4052
- Ensembl: ENSG00000049323
- OMIM®: 150390
- UniProtKB/Swiss-Prot: Q14766
Previous GeneCards Identifiers for LTBP1 Gene
- GC02P033130
- GC02P033311
- GC02P033146
- GC02P033084
- GC02P033026
- GC02P033172
- GC02P032905
- GC02P032946
- GC02P032915
- GC02P032917
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 Cutis Laxa. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Degradation of the extracellular matrix. 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)
- NCBI Entrez Gene (4052)
- Ensembl (ENSG00000049323)
- OMIM® (150390)
- UniProtKB/Swiss-Prot (Q14766)
- Open Targets Platform(ENSG00000049323)
- Alliance of Genome Resources
- 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
Latest Assembly
- chr2:32,902,129-33,399,509
- (GRCh38/hg38)
- Size:
- 497,381 bases
- Orientation:
- Plus strand
Previous Assembly
- chr2:33,172,020-33,624,576
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 452,557 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). Interacts with EFEMP2 (PubMed:27339457).
- 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
Antibodies for research
- 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)
-
Boster Bio Antibodies for LTBP1
-
Custom Antibody ServicesProSci Antibodies for LTBP1
-
Santa Cruz Biotechnology (SCBT) Antibodies for LTBP1
Protein products for research
- 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 for research
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
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 | IEA,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
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cardiovascular system phenotype
- immune system phenotype
- mortality/aging
- renal/urinary system phenotype
- liver/biliary system phenotype
- hematopoietic system phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for LTBP1:
Animal Models for LTBP1 Gene
Animal Models for research
-
Taconic Biosciences Mouse Models for LTBP1
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for LTBP1 - Starting at $85 >
- * LTBP1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
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 for research
Inhibitory RNAs for research
- 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 for research
- Applied Biological Materials (abm): Clones for LTBP1 - Starting at $45 >
- * LTBP1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- 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 Lines for research
-
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
.61
Nanog in Mammalian ESC Pluripotency
.61
|
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:0007178 | transmembrane receptor protein serine/threonine kinase signaling pathway | IEA | -- |
| GO:0035583 | sequestering of TGFbeta in extracellular matrix | IDA,TAS | 18677313 |
| GO:0043687 | post-translational protein modification | TAS | -- |
| GO:0044267 | cellular protein metabolic process | TAS | -- |
| GO:1901388 | regulation of transforming growth factor beta activation | IDA | 2022183 |
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 for research
- Applied Biological Materials (abm): CRISPR Clones for LTBP1 - Starting at $85 >
- * LTBP1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
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 for research
Inhibitory RNAs for research
- 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 for research
- Applied Biological Materials (abm): Clones for LTBP1 - Starting at $45 >
- * LTBP1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- 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(4.4)
- Bone(3.7)
- Heart(2.9)
- Muscle(2.8)
- Eye(2.6)
- Kidney(2.6)
- Skin(2.1)
Primer products for research
-
OriGene qPCR primer pairs for LTBP1
Gene Expression Assays for research
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 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | LTBP1 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | LTBP1 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ltbp1 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Ltbp1 29 16 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | LTBP1 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | LTBP1 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | LTBP1 29 |
|
||
| Lizard (Anolis carolinensis) |
Reptilia | LTBP1 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ltbp1 29 |
|
||
| Str.20370 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | LTGF-1 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ltbp1 29 |
|
||
| LTBP1 30 |
|
OneToOne | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG32373 30 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | B0393.5 31 |
|
|
|
| ZK783.1 31 |
|
|
- 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
- Alliance of Genome Resources:
- Additional Orthologs for LTBP1
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 |
|---|---|---|---|---|---|
| rs113319925 | Benign: not provided | 33,275,889(+) |
C/T NM_206943.3(LTBP1):c.2958C>T (p.Ser986=) |
SYNONYMOUS | |
| rs113728018 | Benign: not provided | 33,263,290(+) |
A/G NM_206943.3(LTBP1):c.2519-4A>G |
INTRON | |
| rs114595076 | Benign: not provided | 33,300,491(+) |
G/T NM_206943.3(LTBP1):c.3276G>T (p.Gly1092=) |
SYNONYMOUS | |
| rs141080282 | Likely Benign: not provided | 33,347,499(+) |
G/A NM_206943.3(LTBP1):c.3989G>A (p.Arg1330Gln) |
MISSENSE | |
| rs142857073 | Benign: not provided | 33,262,794(+) |
A/G NM_206943.3(LTBP1):c.2491A>G (p.Thr831Ala) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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 Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LTBP1 Gene
Disorders for LTBP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| geleophysic dysplasia |
|
|
| cutis laxa |
|
|
| acromicric dysplasia |
|
|
| weill-marchesani syndrome |
|
|
| megalocornea |
|
|
Search LTBP1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for LTBP1
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- 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 22
- 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
- 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 40
- 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 22
- 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
ExternalLinks
Products for LTBP1 Gene
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Sources for LTBP1 Gene
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