• Gene id: 8425

Gene Summary

• Gene Symbol: LTBP4   Gene   UCSC   Ensembl
• Aliases: ARCL1C, LTBP-4, LTBP4L, LTBP4S
• Gene name: latent transforming growth factor beta binding protein 4
• Alternate names: latent-transforming growth factor beta-binding protein 4, latent transforming growth factor-beta binding protein 4L,
• Gene location: 19q13.2 (40593165: 40629819)     Exons: 35     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other pro
• OMIM: 616660

Protein Summary

• Protein general information: Q8N2S1  
  • Name: Latent transforming growth factor beta binding protein 4 (LTBP 4)
  • Length: 1624  
  • Mass: 173435
  • Tissue specificity: Highly expressed in heart, skeletal muscle, pancreas, uterus, and small intestine. Weakly expressed in placenta and lung. {ECO
• Sequence:

  MPRPGTSGRRPLLLVLLLPLFAAATSAASPSPSPSQVVEVPGVPSRPASVAVCRCCPGQTSRRSRCIRAFCRVRS
  CQPKKCAGPQRCLNPVPAVPSPSPSVRKRQVSLNWQPLTLQEARALLKRRRPRGPGGRGLLRRRPPQRAPAGKAP
  VLCPLICHNGGVCVKPDRCLCPPDFAGKFCQLHSSGARPPAPAVPGLTRSVYTMPLANHRDDEHGVASMVSVHVE
  HPQEASVVVHQVERVSGPWEEADAEAVARAEAAARAEAAAPYTVLAQSAPREDGYSDASGFGYCFRELRGGECAS
  PLPGLRTQEVCCRGAGLAWGVHDCQLCSERLGNSERVSAPDGPCPTGFERVNGSCEDVDECATGGRCQHGECANT
  RGGYTCVCPDGFLLDSSRSSCISQHVISEAKGPCFRVLRDGGCSLPILRNITKQICCCSRVGKAWGRGCQLCPPF
  GSEGFREICPAGPGYHYSASDLRYNTRPLGQEPPRVSLSQPRTLPATSRPSAGFLPTHRLEPRPEPRPDPRPGPE
  LPLPSIPAWTGPEIPESGPSSGMCQRNPQVCGPGRCISRPSGYTCACDSGFRLSPQGTRCIDVDECRRVPPPCAP
  GRCENSPGSFRCVCGPGFRAGPRAAECLDVDECHRVPPPCDLGRCENTPGSFLCVCPAGYQAAPHGASCQDVDEC
  TQSPGLCGRGACKNLPGSFRCVCPAGFRGSACEEDVDECAQEPPPCGPGRCDNTAGSFHCACPAGFRSRGPGAPC
  QDVDECARSPPPCTYGRCENTEGSFQCVCPMGFQPNTAGSECEDVDECENHLACPGQECVNSPGSFQCRTCPSGH
  HLHRGRCTDVDECSSGAPPCGPHGHCTNTEGSFRCSCAPGYRAPSGRPGPCADVNECLEGDFCFPHGECLNTDGS
  FACTCAPGYRPGPRGASCLDVDECSEEDLCQSGICTNTDGSFECICPPGHRAGPDLASCLDVDECRERGPALCGS
  QRCENSPGSYRCVRDCDPGYHAGPEGTCDDVDECQEYGPEICGAQRCENTPGSYRCTPACDPGYQPTPGGGCQDV
  DECRNRSFCGAHAVCQNLPGSFQCLCDQGYEGARDGRHCVDVNECETLQGVCGAALCENVEGSFLCVCPNSPEEF
  DPMTGRCVPPRTSAGTFPGSQPQAPASPVLPARPPPPPLPRRPSTPRQGPVGSGRRECYFDTAAPDACDNILARN
  VTWQECCCTVGEGWGSGCRIQQCPGTETAEYQSLCPHGRGYLAPSGDLSLRRDVDECQLFRDQVCKSGVCVNTAP
  GYSCYCSNGYYYHTQRLECIDNDECADEEPACEGGRCVNTVGSYHCTCEPPLVLDGSQRRCVSNESQSLDDNLGV
  CWQEVGADLVCSHPRLDRQATYTECCCLYGEAWGMDCALCPAQDSDDFEALCNVLRPPAYSPPRPGGFGLPYEYG
  PDLGPPYQGLPYGPELYPPPALPYDPYPPPPGPFARREAPYGAPRFDMPDFEDDGGPYGESEAPAPPGPGTRWPY
  RSRDTRRSFPEPEEPPEGGSYAGSLAEPYEELEAEECGILDGCTNGRCVRVPEGFTCRCFDGYRLDMTRMACVDI
  NECDEAEAASPLCVNARCLNTDGSFRCICRPGFAPTHQPHHCAPARPRA

• Structural information:
  • Protein Domains: (149..18-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (287..33-)
    (/note="TB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00697-)
    (357..39-)
    (/note="EGF-like-)
    (-)
    (/evidence="ECO:0000255|PROS-)
  • Interpro: IPR001881  IPR013032  IPR000742  IPR000152  IPR018097   IPR009030  IPR017878  IPR036773  
  • Prosite: PS00010 PS00022 PS01186 PS50026 PS01187 PS51364
  • STRING: ENSP00000311905
• Other Databases: GeneCards:  LTBP4  Malacards:  LTBP4

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:0005509	calcium ion binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046879	hormone secretion	IEA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0031012	extracellular matrix	IEA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
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:0005576	extracellular region	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	IDA	cellular component
GO:0030162	regulation of proteolysis	IDA	biological process
GO:0050431	transforming growth factor beta binding	IDA	molecular function
GO:0031012	extracellular matrix	IDA	cellular component
GO:0050431	transforming growth factor beta binding	IPI	molecular function
GO:0030252	growth hormone secretion	TAS	biological process
GO:0005024	transforming growth factor beta-activated receptor activity	NAS	molecular function
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0005509	calcium ion binding	NAS	molecular function
GO:0045595	regulation of cell differentiation	TAS	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0005539	glycosaminoglycan binding	NAS	molecular function
GO:0005178	integrin binding	NAS	molecular function
GO:0006457	protein folding	TAS	biological process
GO:0001558	regulation of cell growth	TAS	biological process

Diseases

Associated diseases	References
Cutis laxa	KEGG:H00557
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities	KEGG:H00904
Cutis laxa	KEGG:H00557
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities	KEGG:H00904
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray