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Aliases for LTBP1 Gene

Aliases for LTBP1 Gene

  • Latent Transforming Growth Factor Beta Binding Protein 1 2 3 5
  • TGF-Beta1-BP-1 2 3 4
  • Transforming Growth Factor Beta-1-Binding Protein 1 3 4
  • LTBP-1 3 4
  • Latent-Transforming Growth Factor Beta-Binding Protein 1 3

External Ids for LTBP1 Gene

Previous GeneCards Identifiers for LTBP1 Gene

  • GC02P033130
  • GC02P033311
  • GC02P033146
  • GC02P033084
  • GC02P033026
  • GC02P033172
  • GC02P032905

Summaries for LTBP1 Gene

Entrez Gene Summary 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 Cadasil. Among its related pathways are Activation of cAMP-Dependent PKA and GPCR Pathway. 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 extra cellular matrix (ECM).

Gene Wiki entry for LTBP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LTBP1 Gene

Genomics for LTBP1 Gene

Regulatory Elements for LTBP1 Gene

Enhancers for LTBP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F033157 1 FANTOM5 Ensembl ENCODE 56.5 +212.1 212132 3.8 JUND JUN CEBPB FOS MNT LTBP1 FAM98A GC02P033183 TYW1P1
GH02F033165 0.6 ENCODE 52.9 +219.9 219936 2.8 GATA3 ZNF766 JUND SIN3A FOXP2 EZH2 LTBP1 GC02P033183 TYW1P1
GH02F033152 0.2 ENCODE 48.2 +206.4 206370 2.1 JUND ZMYM3 NR3C1 LTBP1 GC02P033183 TYW1P1
GH02F033209 1.4 FANTOM5 Ensembl ENCODE 42.9 +266.3 266262 8.4 HDAC1 PKNOX1 ZNF133 SIN3A FEZF1 RAD21 CHAMP1 ZNF335 ELK1 SCRT2 LTBP1 FAM98A GC02P033183 GC02M033258
GH02F033219 1.2 Ensembl ENCODE 30.6 +273.7 273672 2.1 HDAC1 ESRRA ATF1 JUN YY1 IRF9 GATA3 HNF4G NR2F6 FOS LTBP1 GC02M033258 GC02P033183
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around LTBP1 on UCSC Golden Path with GeneCards custom track

Promoters for LTBP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000587796 428 2401 ATF1 SIN3A FEZF1 ZNF48 ZNF2 YY1 GLIS2 ZNF143 JUNB REST

Genomic Location for LTBP1 Gene

Chromosome:
2
Start:
32,946,972 bp from pter
End:
33,399,509 bp from pter
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:
LTBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LTBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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};

    Three dimensional structures from OCA and Proteopedia for LTBP1 Gene

    Alternative splice isoforms for LTBP1 Gene

neXtProt entry 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 Ser 296, Thr 326, Asn 347, Thr 357, Asn 378, Asn 424, Ser 438, Thr 461, Thr 467, Ser 501, Ser 539, Asn 620, Ser 768, Ser 810, Asn 1197, Asn 1250, Thr 1333, and Asn 1366
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for LTBP1 (Latent TGF-beta bp1)
  • Abcam antibodies for LTBP1
  • Cloud-Clone Corp. Antibodies for LTBP1
  • Santa Cruz Biotechnology (SCBT) Antibodies for LTBP1

No data available for DME Specific Peptides for LTBP1 Gene

Domains & Families for LTBP1 Gene

Suggested Antigen Peptide Sequences for LTBP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q14766

UniProtKB/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.
  • Contains 18 EGF-like domains.
  • Contains 4 TB (TGF-beta binding) domains.
Family:
  • Belongs to the LTBP family.
genes like me logo Genes that share domains with LTBP1: view

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 extra cellular matrix (ECM).

LifeMap Function Summary for LTBP1 Gene

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with LTBP1: view
genes like me logo Genes that share phenotypes with LTBP1: view

Animal Models for LTBP1 Gene

MGI Knock Outs for LTBP1:

Animal Model Products

  • Taconic Biosciences Mouse Models for LTBP1

miRNA for LTBP1 Gene

miRTarBase miRNAs that target LTBP1

Flow Cytometry Products

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LTBP1 Gene COMPARTMENTS Subcellular localization image for LTBP1 gene
Compartment Confidence
extracellular 5
cytosol 2
nucleus 2
plasma membrane 2
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for LTBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001527 microfibril IDA 12429738
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix NAS 8537398
GO:0005615 extracellular space IEA --
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
genes like me logo Genes that share ontologies with LTBP1: view

Pathways & Interactions for LTBP1 Gene

genes like me logo Genes that share pathways with LTBP1: view

SIGNOR curated interactions for LTBP1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for LTBP1 Gene

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:0060976 coronary vasculature development IEA --
genes like me logo Genes that share ontologies with LTBP1: view

Drugs & Compounds for LTBP1 Gene

(7) Drugs for LTBP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for LTBP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LTBP1: view

Transcripts for LTBP1 Gene

Unigene Clusters for LTBP1 Gene

Latent transforming growth factor beta binding protein 1:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LTBP1 Gene

No ASD Table

Relevant External Links for LTBP1 Gene

GeneLoc Exon Structure for
LTBP1
ECgene alternative splicing isoforms for
LTBP1

Expression for LTBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LTBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Protein differential expression in normal tissues from HIPED for LTBP1 Gene

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:

LTBP1

SOURCE GeneReport for Unigene cluster for LTBP1 Gene:

Hs.619315

mRNA 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.
genes like me logo Genes that share expression patterns with LTBP1: view

Primer Products

No data available for Protein tissue co-expression partners for LTBP1 Gene

Orthologs for LTBP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LTBP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LTBP1 34 35
  • 99.11 (n)
dog
(Canis familiaris)
Mammalia LTBP1 34 35
  • 91.61 (n)
cow
(Bos Taurus)
Mammalia LTBP1 34 35
  • 90.17 (n)
rat
(Rattus norvegicus)
Mammalia Ltbp1 34
  • 86.86 (n)
mouse
(Mus musculus)
Mammalia Ltbp1 34 16 35
  • 86.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LTBP1 35
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LTBP1 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves LTBP1 34
  • 78.7 (n)
lizard
(Anolis carolinensis)
Reptilia LTBP1 35
  • 31 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ltbp1 34
  • 67.42 (n)
Str.20370 34
African clawed frog
(Xenopus laevis)
Amphibia LTGF-1 34
zebrafish
(Danio rerio)
Actinopterygii ltbp1 34
  • 60.55 (n)
LTBP1 35
  • 23 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG32373 35
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea B0393.5 36
  • 39 (a)
ZK783.1 36
  • 29 (a)
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)

Evolution for LTBP1 Gene

ENSEMBL:
Gene Tree for LTBP1 (if available)
TreeFam:
Gene Tree for LTBP1 (if available)

Paralogs for LTBP1 Gene

Paralogs for LTBP1 Gene

genes like me logo Genes that share paralogs with LTBP1: view

Variants for LTBP1 Gene

Sequence variations from dbSNP and Humsavar for LTBP1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000951 -- 33,037,341(+) AAGGT(A/G)TAATA intron-variant
rs10048733 -- 33,208,098(+) CATCC(A/G)GATTC intron-variant
rs10048778 -- 33,209,330(+) TTGGG(C/T)CATGG intron-variant
rs10048782 -- 33,209,890(+) CAAGA(G/T)CTCCA intron-variant
rs10084248 -- 33,210,000(+) TGAAG(A/T)TGTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LTBP1 Gene

Variant ID Type Subtype PubMed ID
dgv1109e212 CNV gain 25503493
dgv1884n106 CNV deletion 24896259
dgv3749n100 CNV gain 25217958
dgv443n27 CNV gain 19166990
dgv593e201 CNV deletion 23290073
dgv617n67 CNV loss 20364138
dgv618n67 CNV loss 20364138
dgv6750n54 CNV gain 21841781
dgv6751n54 CNV loss 21841781
dgv6752n54 CNV loss 21841781
dgv6753n54 CNV loss 21841781
dgv6754n54 CNV gain 21841781
esv1003692 CNV deletion 20482838
esv1004367 CNV gain 20482838
esv24129 CNV gain+loss 19812545
esv2422335 CNV duplication 17116639
esv2422472 CNV duplication 17116639
esv2517327 CNV deletion 19546169
esv2656984 CNV deletion 23128226
esv2667427 CNV deletion 23128226
esv2674232 CNV deletion 23128226
esv2719883 CNV deletion 23290073
esv2719885 CNV deletion 23290073
esv2719887 CNV deletion 23290073
esv2719889 CNV deletion 23290073
esv2751888 CNV gain 17911159
esv2763243 CNV gain 21179565
esv2994 CNV loss 18987735
esv3304273 CNV mobile element insertion 20981092
esv3306594 CNV mobile element insertion 20981092
esv3308942 CNV mobile element insertion 20981092
esv33628 CNV loss 17666407
esv3391419 CNV insertion 20981092
esv3408153 CNV insertion 20981092
esv3410643 CNV insertion 20981092
esv3436033 CNV insertion 20981092
esv3554633 CNV deletion 23714750
esv3554644 CNV deletion 23714750
esv3554655 CNV deletion 23714750
esv3583711 CNV loss 25503493
esv3583712 CNV loss 25503493
esv3590249 CNV gain 21293372
esv3590271 CNV loss 21293372
esv3590273 CNV loss 21293372
esv3590274 CNV gain 21293372
esv3590278 CNV loss 21293372
esv3590279 CNV loss 21293372
esv3590281 CNV loss 21293372
esv3590284 CNV loss 21293372
esv992850 CNV gain 20482838
nsv1000512 CNV gain 25217958
nsv1011020 CNV loss 25217958
nsv1072405 CNV deletion 25765185
nsv1134849 CNV deletion 24896259
nsv1149092 CNV duplication 26484159
nsv1151620 CNV deletion 26484159
nsv1152177 CNV deletion 26484159
nsv2669 CNV deletion 18451855
nsv2670 CNV deletion 18451855
nsv498917 CNV loss 21111241
nsv511178 CNV loss 21212237
nsv511775 CNV loss 21212237
nsv514057 CNV loss 21397061
nsv516173 CNV gain+loss 19592680
nsv518285 CNV loss 19592680
nsv524337 CNV loss 19592680
nsv528277 CNV gain 19592680
nsv581285 CNV gain 21841781
nsv581288 CNV loss 21841781
nsv581294 CNV loss 21841781
nsv581298 CNV gain 21841781
nsv581308 CNV loss 21841781
nsv581309 CNV loss 21841781
nsv819533 CNV loss 19587683
nsv820846 CNV deletion 20802225
nsv828753 CNV loss 20364138
nsv828764 CNV loss 20364138

Variation tolerance for LTBP1 Gene

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)

Relevant External Links for LTBP1 Gene

Human Gene Mutation Database (HGMD)
LTBP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LTBP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LTBP1 Gene

Disorders for LTBP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for LTBP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
geleophysic dysplasia
  • geleophysic dwarfism
cadasil
  • cadasil syndrome
pulmonary fibrosis, idiopathic
  • idiopathic pulmonary fibrosis
- elite association - COSMIC cancer census association via MalaCards
Search LTBP1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for LTBP1

Genetic Association Database (GAD)
LTBP1
Human Genome Epidemiology (HuGE) Navigator
LTBP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LTBP1
genes like me logo Genes that share disorders with LTBP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LTBP1 Gene

Publications for LTBP1 Gene

  1. The latent transforming growth factor beta binding protein (LTBP) family. (PMID: 11104663) Oklu R. … Hesketh R. (Biochem. J. 2000) 2 3 4 22 64
  2. 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 M.A. (Matrix Biol. 2007) 3 4 22 64
  3. 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. (J Mol Diagn 2006) 3 22 46 64
  4. Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. (PMID: 12429738) Isogai Z. … Sakai L.Y. (J. Biol. Chem. 2003) 3 4 22 64
  5. 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. (Mol. Biol. Cell 2000) 3 4 22 64

Products for LTBP1 Gene

Sources for LTBP1 Gene

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