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FLASH GENE

Symbol

LTBP3

contributors: mct/npt - updated : 22-05-2018

HGNC name	latent transforming growth factor beta binding protein 3
HGNC id	6716

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GLSD3 geleophysic dysplasia 3 OLSS oligodontia, short stature
Location	11q13.1      Physical location : 65.306.030 - 65.325.699
Synonym name	latent TGF beta binding protein 3
Synonym symbol(s)	LTBP-3, LTBP2, pp6425, DKFZp586M2123, FLJ33431, FLJ39893, FLJ42533, FLJ44138, DASS, GPHYSD3, STHAG6

DNA

TYPE	functioning gene
STRUCTURE	19.83 kb     27 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	one alternatively spliced exon
	GC-rich TATA-less promoter contained several transcription initiation sites and putative binding sites for multiple sequence specific transcription factors including Sp1, AP-1, c-Ets, MZF-1, Runx1 and members of the GATA-family (Kantola 2005)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001130144 28 - 4721 NP_001123616 139 1303 - 2014 25187517 NM_021070 27 - 4580 NP_066548 134 1256 - 2014 25187517 NM_001164266 27 - 4576 NP_001157738 - 1139 - 2014 25187517

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Lymphoid/Immune spleen       highly   thymus       highly Reproductive female system ovary     highly   male system prostate     highly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal fibrillin 4-cys motif
	a non cb EGF-like motif
	13 other EGF-like motifs (12cb EGF-like)
	four 8 cysteine residues repeats (one of F, three of LT type)

HOMOLOGY

intraspecies	homolog to LTBP1
	homolog to fibrillin

Homologene

FAMILY	fibrillin superfamily
	LTBP family

CATEGORY

structural protein , signaling growth factor

SUBCELLULAR LOCALIZATION	extracellular
text	extracellular matrix (ECM) protein

basic FUNCTION	may play critical roles in controlling and directing the activity of TGFB1
	may have a structural role in the extra cellular matrix (ECM)
	required for targeting and activation of TGFB, and in particular regulates the bioavailability of TGFB in chondrocytes (Noor 2009)
	playing an important role in development of the axial skeleton (Noor 2009)
	important regulatory role in TGF-beta activation and autocrine growth control in MSCs (Mesenchymal stem cells) (Koli 2008)
	differentially regulating TGF-beta activation and extracellular matrix accumulation during osteogenic differentiation (Koli 2008)
	in Marfan syndrome, improper localization of latent TGFB1 complexes composed of LTBP3 and TGFB1 contributes to aortic disease progression
	is important for craniofacial morphogenesis and hard tissue mineralization, as it is essential for activation of transforming growth factor-beta (TGFB1)
	is required for ameloblast differentiation and for the formation of decussating enamel prisms, to prevent enamel nodule formation, and for proper root morphogenesis
	represents a novel oncotarget that has distinctive functions in the regulation of angiogenesis-dependent tumor cell intravasation, a critical process during early cancer dissemination

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

forming part of the large latent transforming growth factor beta precursor complex

INTERACTION

DNA

RNA

small molecule

protein	one isoform binding to the 100kDa latent TGFB1 complex, through the latency associated polypeptide (LAP)
	LTBP2, LTBP3 inhibit the proprotein convertase PCSK5
	regulating the bioavailability of TGF-betas, and having an essential role in the secretion and targeting of TGF-beta1
	MALAT1 directly interacted with SP1 and LTBP3 promoter to increase expression of LTBP3 gene

cell & other

REGULATION

induced by

TGF beta 1 (promoter activity is mediated by Smad3/4 and AP-1 binding elements) (Kantola 2005)

Other

released from the TGFB complex by plasmin leading to activation of TGFB

ASSOCIATED DISORDERS

corresponding disease(s)

OLSS , GLSD3

Susceptibility

to thoracic aortic aneurysms and dissections

Variant & Polymorphism other	homozygous LTBP3 pathogenic variants predispose individuals to thoracic aortic aneurysms and dissections, isolated or associated to others syndromes

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

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