• Gene id: 4052

Gene Summary

• Gene Symbol: LTBP1   Gene   UCSC   Ensembl
• Gene name: latent transforming growth factor beta binding protein 1
• Alternate names: latent-transforming growth factor beta-binding protein 1, LTBP-1, TGF-beta1-BP-1, transforming growth factor beta-1-binding protein 1,
• Gene location: 2p22.3 (32902128: 33399508)     Exons: 38     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 150390

Protein Summary

• Protein general information: Q14766  
  • Name: Latent transforming growth factor beta binding protein 1 (LTBP 1) (Transforming growth factor beta 1 binding protein 1) (TGF beta1 BP 1)
  • Length: 1721  
  • Mass: 186796
  • Tissue specificity: Expressed in the aorta (at protein level) (PubMed
• Sequence:

  MAGAWLRWGLLLWAGLLASSAHGRLRRITYVVHPGPGLAAGALPLSGPPRSRTFNVALNARYSRSSAAAGAPSRA
  SPGVPSERTRRTSKPGGAALQGLRPPPPPPPEPARPAVPGGQLHPNPGGHPAAAPFTKQGRQVVRSKVPQETQSG
  GGSRLQVHQKQQLQGVNVCGGRCCHGWSKAPGSQRCTKPSCVPPCQNGGMCLRPQLCVCKPGTKGKACETIAAQD
  TSSPVFGGQSPGAASSWGPPEQAAKHTSSKKADTLPRVSPVAQMTLTLKPKPSVGLPQQIHSQVTPLSSQSVVIH
  HGQTQEYVLKPKYFPAQKGISGEQSTEGSFPLRYVQDQVAAPFQLSNHTGRIKVVFTPSICKVTCTKGSCQNSCE
  KGNTTTLISENGHAADTLTATNFRVVICHLPCMNGGQCSSRDKCQCPPNFTGKLCQIPVHGASVPKLYQHSQQPG
  KALGTHVIHSTHTLPLTVTSQQGVKVKFPPNIVNIHVKHPPEASVQIHQVSRIDGPTGQKTKEAQPGQSQVSYQG
  LPVQKTQTIHSTYSHQQVIPHVYPVAAKTQLGRCFQETIGSQCGKALPGLSKQEDCCGTVGTSWGFNKCQKCPKK
  PSYHGYNQMMECLPGYKRVNNTFCQDINECQLQGVCPNGECLNTMGSYRCTCKIGFGPDPTFSSCVPDPPVISEE
  KGPCYRLVSSGRQCMHPLSVHLTKQLCCCSVGKAWGPHCEKCPLPGTAAFKEICPGGMGYTVSGVHRRRPIHHHV
  GKGPVFVKPKNTQPVAKSTHPPPLPAKEEPVEALTFSREHGPGVAEPEVATAPPEKEIPSLDQEKTKLEPGQPQL
  SPGISTIHLHPQFPVVIEKTSPPVPVEVAPEASTSSASQVIAPTQVTEINECTVNPDICGAGHCINLPVRYTCIC
  YEGYRFSEQQRKCVDIDECTQVQHLCSQGRCENTEGSFLCICPAGFMASEEGTNCIDVDECLRPDVCGEGHCVNT
  VGAFRCEYCDSGYRMTQRGRCEDIDECLNPSTCPDEQCVNSPGSYQCVPCTEGFRGWNGQCLDVDECLEPNVCAN
  GDCSNLEGSYMCSCHKGYTRTPDHKHCRDIDECQQGNLCVNGQCKNTEGSFRCTCGQGYQLSAAKDQCEDIDECQ
  HRHLCAHGQCRNTEGSFQCVCDQGYRASGLGDHCEDINECLEDKSVCQRGDCINTAGSYDCTCPDGFQLDDNKTC
  QDINECEHPGLCGPQGECLNTEGSFHCVCQQGFSISADGRTCEDIDECVNNTVCDSHGFCDNTAGSFRCLCYQGF
  QAPQDGQGCVDVNECELLSGVCGEAFCENVEGSFLCVCADENQEYSPMTGQCRSRTSTDLDVDVDQPKEEKKECY
  YNLNDASLCDNVLAPNVTKQECCCTSGVGWGDNCEIFPCPVLGTAEFTEMCPKGKGFVPAGESSSEAGGENYKDA
  DECLLFGQEICKNGFCLNTRPGYECYCKQGTYYDPVKLQCFDMDECQDPSSCIDGQCVNTEGSYNCFCTHPMVLD
  ASEKRCIRPAESNEQIEETDVYQDLCWEHLSDEYVCSRPLVGKQTTYTECCCLYGEAWGMQCALCPLKDSDDYAQ
  LCNIPVTGRRQPYGRDALVDFSEQYTPEADPYFIQDRFLNSFEELQAEECGILNGCENGRCVRVQEGYTCDCFDG
  YHLDTAKMTCVDVNECDELNNRMSLCKNAKCINTDGSYKCLCLPGYVPSDKPNYCTPLNTALNLEKDSDLE

• Structural information:
  • Protein Domains: (187..21-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (399..43-)
    (/note="EGF-like-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (557..60-)
    (/note="TB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00-)
  • Interpro: IPR026823  IPR001881  IPR013032  IPR000742  IPR000152   IPR018097  IPR009030  IPR017878  IPR036773  
  • Prosite: PS00010 PS00022 PS01186 PS50026 PS01187 PS51364
  • PDB: 1KSQ
  • PDBsum: 1KSQ
  • DIP: 50011
  • STRING: ENSP00000386043
• Other Databases: GeneCards:  LTBP1  Malacards:  LTBP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050436	microfibril binding	IBA	molecular function
GO:0031012	extracellular matrix	IDA	cellular component
GO:1901388	regulation of transforming growth factor beta activation	IDA	biological process
GO:1901388	regulation of transforming growth factor beta activation	IDA	biological process
GO:0035583	sequestering of TGFbeta in extracellular matrix	IDA	biological process
GO:0035583	sequestering of TGFbeta in extracellular matrix	IDA	biological process
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
GO:0050431	transforming growth factor beta binding	IPI	molecular function
GO:0005515	protein binding	IPI	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:0050436	microfibril binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0001527	microfibril	IDA	cellular component
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0060976	coronary vasculature development	IEA	biological process
GO:0031012	extracellular matrix	IEA	cellular component
GO:0035904	aorta development	IEA	biological process
GO:0003281	ventricular septum development	IEA	biological process
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0035583	sequestering of TGFbeta in extracellular matrix	TAS	biological process
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	HDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	IEA	biological process
GO:0062023	collagen-containing extracellular matrix	IDA	cellular component
GO:0050431	transforming growth factor beta binding	IPI	molecular function
GO:0050431	transforming growth factor beta binding	IPI	molecular function
GO:0031012	extracellular matrix	NAS	cellular component
GO:0050431	transforming growth factor beta binding	IPI	molecular function
GO:0050431	transforming growth factor beta binding	IPI	molecular function
GO:0005024	transforming growth factor beta-activated receptor activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04350	TGF-beta signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881