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

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

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 Megalocornea. Among its related pathways are ERK Signaling and TGF-Beta 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).

Gene Wiki entry for LTBP1 Gene

Additional gene information for LTBP1 Gene

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 for LTBP1 Gene

Promoters and enhancers for LTBP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J033128 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.1 +186.7 186748 9 ZSCAN5C TCF12 FOS REST POLR2A ZNF341 FOXA2 OSR2 NR2F2 CTCF LTBP1 RF00017-3158 TYW1P1
GH02J032946 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas 500.7 +0.7 747 3.4 CTCF NRF1 TCF12 PHF8 ZFX ZNF639 ZIC2 ZBTB10 ZBTB26 REST LTBP1 ENSG00000236854 RF00994-474 LINC00486
GH02J033157 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 56.5 +212.1 212146 3.8 JUND FOS POLR2A RBM25 STAT3 GATA2 JUN YY1 LTBP1 FAM98A piR-50437-369 piR-46002-315
GH02J033209 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 42.9 +266.5 266463 8.8 EP300 NRF1 TCF12 JUND FOS REST POLR2A KDM6A TRIM28 CTBP1 LTBP1 FAM98A piR-43107-151 piR-36756-038
GH02J033165 Enhancer 0.8 Ensembl ENCODE dbSUPER 52.9 +220.0 219955 2.8 JUND USF1 EZH2 FOXA1 POLR2A GATA3 TAF1 LTBP1 piR-46002-315 piR-50437-369
- 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 UCSC Golden Path with GeneCards custom track

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
chr2:32,946,953-33,399,509
(GRCh38/hg38)
Size:
452,557 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:
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:
    • 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};

    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.
  • 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
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • LTBP1_HUMAN (329)

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

Blocks:
  • Aspartic acid and asparagine hydroxylation site
  • EGF-like calcium-binding
  • Matrix fibril-associated
InterPro:
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

Q14766

UniProtKB/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.
genes like me logo Genes that share domains with LTBP1: view

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

Phenotypes From GWAS Catalog 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: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 --
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

Clone Products

  • Addgene plasmids 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LTBP1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
nucleus 3
cytosol 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 HDA,TAS --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0031012 extracellular matrix NAS 8537398
GO:0032991 protein-containing complex IDA 12429738
genes like me logo Genes that share ontologies with LTBP1: view

Pathways & Interactions for LTBP1 Gene

PathCards logo

SuperPathways for LTBP1 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
3 ERK Signaling
.61
.61
.58
.51
.49
4 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
5 CREB Pathway
.68
.68
.63
.50
genes like me logo Genes that share pathways with LTBP1: view

Pathways by source 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

SIGNOR curated interactions for LTBP1 Gene

Activates:

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 IDA,TAS 18677313
GO:0035904 aorta development IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with LTBP1: view

Drugs & Compounds for LTBP1 Gene

(6) Drugs for LTBP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) 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

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 :

Clone Products

  • Addgene plasmids for LTBP1

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

No ASD Table

Relevant External Links for LTBP1 Gene

GeneLoc Exon Structure 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, 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.619315

mRNA 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

  • Lung(4.8)
  • Nervous system(4.7)
  • Blood(4.3)
  • Liver(4.3)
  • Bone(3.5)
  • Heart(2.4)
  • Muscle(2.3)
  • Eye(2.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with LTBP1: view

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.

Orthologs for LTBP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LTBP1 31 30
  • 99.11 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LTBP1 31 30
  • 91.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LTBP1 31 30
  • 90.17 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ltbp1 30
  • 86.86 (n)
mouse
(Mus musculus)
Mammalia Ltbp1 17 31 30
  • 86.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LTBP1 31
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LTBP1 31
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves LTBP1 30
  • 78.7 (n)
lizard
(Anolis carolinensis)
Reptilia LTBP1 31
  • 31 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ltbp1 30
  • 67.42 (n)
Str.20370 30
African clawed frog
(Xenopus laevis)
Amphibia LTGF-1 30
zebrafish
(Danio rerio)
Actinopterygii ltbp1 30
  • 60.55 (n)
LTBP1 31
  • 23 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG32373 31
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea B0393.5 32
  • 39 (a)
ZK783.1 32
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for LTBP1: view image

Paralogs for LTBP1 Gene

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

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

Additional dbSNP identifiers (rs#s) for LTBP1 Gene

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)

Additional Variant Information for LTBP1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for LTBP1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
geleophysic dysplasia
  • geleophysic dwarfism
megalocornea
  • anterior megalophthalmos
anus benign neoplasm
  • anal neoplasm
weill-marchesani syndrome
  • wms
isolated ectopia lentis
  • familial ectopia lentis
- elite association - COSMIC cancer census association via MalaCards
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
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) Oklü R … Hesketh R (The Biochemical journal 2000) 2 3 4 23 54
  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 MA (Matrix biology : journal of the International Society for Matrix Biology 2007) 3 4 23 54
  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 (The Journal of molecular diagnostics : JMD 2006) 3 23 41 54
  4. 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 54
  5. 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 54

Products for LTBP1 Gene

Sources for LTBP1 Gene