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Aliases for LTBP1 Gene

Aliases for LTBP1 Gene

  • Latent Transforming Growth Factor Beta Binding Protein 1 2 3
  • 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

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. Among its related pathways are NF-KappaB Family Pathway and NF-KappaB Family Pathway. GO annotations related to this gene include calcium ion binding and transforming growth factor beta-activated receptor activity. An important paralog of this gene is LTBP3.

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

Genomic Location for LTBP1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LTBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LTBP1 Gene

Regulatory Elements 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. Binds to FBN1 and FBN2. Interacts with ADAMTSL2.
    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

Proteomics data for LTBP1 Gene at MOPED

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
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Ser296, Thr304, Thr326, Asn347, Thr357, Asn378, Asn424, Ser438, Ser460, Thr461, Thr463, Thr467, Thr469, Ser470, Ser501, Thr533, Ser536, Thr537, Ser539, Asn620, Ser768, Thr769, Thr785, Thr801, Ser810, Asn1197, Asn1250, Thr1333, and Asn1366

No data available for DME Specific Peptides for LTBP1 Gene

Domains for LTBP1 Gene

Gene Families for LTBP1 Gene

HGNC:
  • LTBP :Latent transforming growth factor, beta binding proteins

UniProtKB/Swiss-Prot:

LTBP1_HUMAN
Domain:
  • Associates covalently with small latent TGF-beta complex via domain TB 3:
    • Q14766
  • Contains 18 EGF-like domains.:
    • Q14766
  • Contains 4 TB (TGF-beta binding) domains.:
    • Q14766
Family:
  • Belongs to the LTBP family.:
    • Q14766
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:0050431 transforming growth factor beta binding IPI 10930463
GO:0050436 microfibril binding IDA 12429738
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:

miRNA for LTBP1 Gene

miRTarBase miRNAs that target LTBP1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
nucleus 1
plasma membrane 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:0031012 colocalizes_with extracellular matrix IDA 20551380
GO:0043234 protein complex IDA 12429738
genes like me logo Genes that share ontologies with LTBP1: view

Pathways for LTBP1 Gene

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

Gene Ontology (GO) - Biological Process for LTBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway NAS 8537398
GO:0030198 extracellular matrix organization TAS --
GO:0035583 sequestering of TGFbeta in extracellular matrix TAS 18677313
genes like me logo Genes that share ontologies with LTBP1: view

Compounds for LTBP1 Gene

(9) Novoseek inferred chemical compound relationships for LTBP1 Gene

Compound -log(P) Hits PubMed IDs
tgf beta1 54.8 3
sodium deoxycholate 48.5 2
cysteine 27.5 1
chondroitin sulfate 24.5 1
proline 5.48 1
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:

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 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 (10.0), Artery - Coronary (7.1), and Artery - Tibial (6.7).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for LTBP1 Gene

SOURCE GeneReport for Unigene cluster for LTBP1 Gene Hs.619315

mRNA Expression by UniProt/SwissProt for LTBP1 Gene

Q14766-LTBP1_HUMAN
Tissue specificity: Isoform Long is found in fibroblasts
genes like me logo Genes that share expressions with LTBP1: view

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 36
  • 99.11 (n)
  • 98.89 (a)
LTBP1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LTBP1 36
  • 90.17 (n)
  • 92.52 (a)
LTBP1 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LTBP1 36
  • 91.61 (n)
  • 94.61 (a)
LTBP1 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ltbp1 36
  • 86.7 (n)
  • 89.25 (a)
Ltbp1 16
Ltbp1 37
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LTBP1 37
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LTBP1 37
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ltbp1 36
  • 86.86 (n)
  • 89.78 (a)
chicken
(Gallus gallus)
Aves LTBP1 36
  • 78.7 (n)
  • 80.37 (a)
lizard
(Anolis carolinensis)
Reptilia LTBP1 37
  • 31 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LTGF-1 36
tropical clawed frog
(Silurana tropicalis)
Amphibia ltbp1 36
  • 67.42 (n)
  • 65.61 (a)
Str.20370 36
zebrafish
(Danio rerio)
Actinopterygii ltbp1 36
  • 60.55 (n)
  • 54.17 (a)
LTBP1 37
  • 23 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG32373 37
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK783.1 38
  • 29 (a)
B0393.5 38
  • 39 (a)
Species with no ortholog for LTBP1:
  • 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

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 MAF
rs1949 -- 33,117,950(-) CATAT(A/C/T)CTAAA intron-variant
rs8970 -- 33,398,653(+) AATAC(A/G)GAAAC utr-variant-3-prime
rs57568 -- 33,048,230(+) AGAGC(A/G)CTTAT intron-variant
rs107195 -- 32,977,031(+) GAGGT(A/G)GGTGG intron-variant
rs118207 -- 33,112,067(+) TTATA(C/T)AGATG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2422335 CNV Duplication 17116639
esv2751888 CNV Gain 17911159
nsv516173 CNV Gain+Loss 19592680
dgv443n27 CNV Gain 19166990
esv2422472 CNV Duplication 17116639
nsv2669 CNV Loss 18451855
nsv2670 CNV Loss 18451855
nsv511178 CNV Loss 21212237
nsv819533 CNV Loss 19587683
dgv617n67 CNV Loss 20364138
dgv618n67 CNV Loss 20364138
nsv820846 CNV Deletion 20802225
esv992850 CNV Gain 20482838
nsv511775 CNV Loss 21212237
esv2994 CNV Deletion 18987735
esv2719883 CNV Deletion 23290073
esv2667427 CNV Deletion 23128226
nsv498917 CNV Loss 21111241
nsv514057 CNV Loss 21397061
esv24129 CNV Gain+Loss 19812545
esv1004367 CNV Gain 20482838
nsv828753 CNV Loss 20364138
nsv828764 CNV Loss 20364138
esv33628 CNV Loss 17666407
esv2674232 CNV Deletion 23128226
nsv873789 CNV Gain 21882294
esv1003692 CNV Deletion 20482838
nsv873790 CNV Loss 21882294
esv270870 CNV Insertion 20981092
esv273215 CNV Insertion 20981092
esv2517327 CNV Deletion 19546169
esv2719885 CNV Deletion 23290073
dgv634e201 CNV Deletion 23290073
esv2719887 CNV Deletion 23290073
nsv873791 CNV Loss 21882294
esv2719889 CNV Deletion 23290073
nsv518285 CNV Loss 19592680
esv2656984 CNV Deletion 23128226
esv268552 CNV Insertion 20981092
nsv524337 CNV Loss 19592680
nsv528277 CNV Gain 19592680

Relevant External Links for LTBP1 Gene

HapMap Linkage Disequilibrium report
LTBP1
Human Gene Mutation Database (HGMD)
LTBP1

Disorders for LTBP1 Gene

(1) MalaCards Diseases for LTBP1 Gene

Search for LTBP1 Gene in MalaCards »

(3) Novoseek inferred disease relationships for LTBP1 Gene

Disease -log(P) Hits PubMed IDs
ovarian cancer 8.88 3
carcinoma 0 2
hyperplasia 0 1

Relevant External Links for LTBP1

Genetic Association Database (GAD)
LTBP1
Human Genome Epidemiology (HuGE) Navigator
LTBP1
genes like me logo Genes that share disorders with LTBP1: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. Latent transforming growth factor-beta binding proteins (LTBPs) -- structural extracellular matrix proteins for targeting TGF-beta action. (PMID: 10743502) Saharinen J. … Keski-Oja J. (Cytokine Growth Factor Rev. 1999) 3 4 23
  3. Efficient association of an amino-terminally extended form of human latent transforming growth factor-beta binding protein with the extracellular matrix. (PMID: 8537398) Olofsson A. … Heldin C.-H. (J. Biol. Chem. 1995) 3 4 23
  4. 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 23
  5. 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 23

Products for LTBP1 Gene

Sources for LTBP1 Gene

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