• Gene id: 4054

Gene Summary

• Gene Symbol: LTBP3   Gene   UCSC   Ensembl
• Aliases: DASS, GPHYSD3, LTBP-3, LTBP2, STHAG6, pp6425
• Gene name: latent transforming growth factor beta binding protein 3
• Alternate names: latent-transforming growth factor beta-binding protein 3, latent TGF beta binding protein 3,
• Gene location: 11q13.1 (65558388: 65538558)     Exons: 29     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also

Protein Summary

• Protein general information: Q9NS15  
  • Name: Latent transforming growth factor beta binding protein 3 (LTBP 3)
  • Length: 1303  
  • Mass: 139359
  • Tissue specificity: Isoform 2
• Sequence:

  MPGPRGAAGGLAPEMRGAGAAGLLALLLLLLLLLLGLGGRVEGGPAGERGAGGGGALARERFKVVFAPVICKRTC
  LKGQCRDSCQQGSNMTLIGENGHSTDTLTGSGFRVVVCPLPCMNGGQCSSRNQCLCPPDFTGRFCQVPAGGAGGG
  TGGSGPGLSRTGALSTGALPPLAPEGDSVASKHAIYAVQVIADPPGPGEGPPAQHAAFLVPLGPGQISAEVQAPP
  PVVNVRVHHPPEASVQVHRIESSNAESAAPSQHLLPHPKPSHPRPPTQKPLGRCFQDTLPKQPCGSNPLPGLTKQ
  EDCCGSIGTAWGQSKCHKCPQLQYTGVQKPGPVRGEVGADCPQGYKRLNSTHCQDINECAMPGVCRHGDCLNNPG
  SYRCVCPPGHSLGPSRTQCIADKPEEKSLCFRLVSPEHQCQHPLTTRLTRQLCCCSVGKAWGARCQRCPTDGTAA
  FKEICPAGKGYHILTSHQTLTIQGESDFSLFLHPDGPPKPQQLPESPSQAPPPEDTEEERGVTTDSPVSEERSVQ
  QSHPTATTTPARPYPELISRPSPPTMRWFLPDLPPSRSAVEIAPTQVTETDECRLNQNICGHGECVPGPPDYSCH
  CNPGYRSHPQHRYCVDVNECEAEPCGPGRGICMNTGGSYNCHCNRGYRLHVGAGGRSCVDLNECAKPHLCGDGGF
  CINFPGHYKCNCYPGYRLKASRPPVCEDIDECRDPSSCPDGKCENKPGSFKCIACQPGYRSQGGGACRDVNECAE
  GSPCSPGWCENLPGSFRCTCAQGYAPAPDGRSCLDVDECEAGDVCDNGICSNTPGSFQCQCLSGYHLSRDRSHCE
  DIDECDFPAACIGGDCINTNGSYRCLCPQGHRLVGGRKCQDIDECSQDPSLCLPHGACKNLQGSYVCVCDEGFTP
  TQDQHGCEEVEQPHHKKECYLNFDDTVFCDSVLATNVTQQECCCSLGAGWGDHCEIYPCPVYSSAEFHSLCPDGK
  GYTQDNNIVNYGIPAHRDIDECMLFGSEICKEGKCVNTQPGYECYCKQGFYYDGNLLECVDVDECLDESNCRNGV
  CENTRGGYRCACTPPAEYSPAQRQCLSPEEMDVDECQDPAACRPGRCVNLPGSYRCECRPPWVPGPSGRDCQLPE
  SPAERAPERRDVCWSQRGEDGMCAGPLAGPALTFDDCCCRQGRGWGAQCRPCPPRGAGSHCPTSQSESNSFWDTS
  PLLLGKPPRDEDSSEEDSDECRCVSGRCVPRPGGAVCECPGGFQLDASRARCVDIDECRELNQRGLLCKSERCVN
  TSGSFRCVCKAGFARSRPHGACVPQRRR

• Structural information:
  • Protein Domains: (109..14-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (277..33-)
    (/note="TB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00697-)
    (355..39-)
    (/note="EGF-like-)
    (-)
    (/evidence="ECO:0000255|PROS-)
  • Interpro: IPR026823  IPR001881  IPR013032  IPR000742  IPR000152   IPR018097  IPR009030  IPR017878  IPR036773  
  • Prosite: PS00010 PS00022 PS01186 PS50026 PS01187 PS51364
  • STRING: ENSP00000301873
• Other Databases: GeneCards:  LTBP3  Malacards:  LTBP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050431	transforming growth factor beta binding	IBA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0019838	growth factor binding	IEA	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0060430	lung saccule development	IEA	biological process
GO:0045780	positive regulation of bone resorption	IEA	biological process
GO:0030502	negative regulation of bone mineralization	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0001501	skeletal system development	IEA	biological process
GO:0060349	bone morphogenesis	IEA	biological process
GO:0046849	bone remodeling	IEA	biological process
GO:0032331	negative regulation of chondrocyte differentiation	IEA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0005576	extracellular region	HDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0062023	collagen-containing extracellular matrix	IDA	cellular component
GO:2000741	positive regulation of mesenchymal stem cell differentiation	IMP	biological process
GO:1902462	positive regulation of mesenchymal stem cell proliferation	IMP	biological process
GO:0050431	transforming growth factor beta binding	IPI	molecular function
GO:0036363	transforming growth factor beta activation	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0050431	transforming growth factor beta binding	IPI	molecular function
GO:0050431	transforming growth factor beta binding	IPI	molecular function
GO:0050431	transforming growth factor beta binding	IPI	molecular function

Diseases

Associated diseases	References
Tooth agenesis	KEGG:H00625
Tooth agenesis	KEGG:H00625
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq