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Q8N2S1 Proteins EGF-like domain Repeats
Uniprot ID:Q8N2S1
Protein name: Latent-transforming growth factor beta-binding protein 4
Gene : LTBP4
Protein Family:LTBP family
Squence Length : 1624
Sequnce
>Q8N2S1 1625 MPRPGTSGRRPLLLVLLLPLFAAATSAASPSPSPSQVVEVPGVPSRPASVAVCRCCPGQTSRRSRCIRAFCRVRSCQPKKCAGPQRCLNPVPAVPSPSPSVRKRQVSLNWQPLTLQEARALLKRRRPRGPGGRGLLRRRPPQRAPAGKAPVLCPLICHNGGVCVKPDRCLCPPDFAGKFCQLHSSGARPPAPAVPGLTRSVYTMPLANHRDDEHGVASMVSVHVEHPQEASVVVHQVERVSGPWEEADAEAVARAEAAARAEAAAPYTVLAQSAPREDGYSDASGFGYCFRELRGGECASPLPGLRTQEVCCRGAGLAWGVHDCQLCSERLGNSERVSAPDGPCPTGFERVNGSCEDVDECATGGRCQHGECANTRGGYTCVCPDGFLLDSSRSSCISQHVISEAKGPCFRVLRDGGCSLPILRNITKQICCCSRVGKAWGRGCQLCPPFGSEGFREICPAGPGYHYSASDLRYNTRPLGQEPPRVSLSQPRTLPATSRPSAGFLPTHRLEPRPEPRPDPRPGPELPLPSIPAWTGPEIPESGPSSGMCQRNPQVCGPGRCISRPSGYTCACDSGFRLSPQGTRCIDVDECRRVPPPCAPGRCENSPGSFRCVCGPGFRAGPRAAECLDVDECHRVPPPCDLGRCENTPGSFLCVCPAGYQAAPHGASCQDVDECTQSPGLCGRGACKNLPGSFRCVCPAGFRGSACEEDVDECAQEPPPCGPGRCDNTAGSFHCACPAGFRSRGPGAPCQDVDECARSPPPCTYGRCENTEGSFQCVCPMGFQPNTAGSECEDVDECENHLACPGQECVNSPGSFQCRTCPSGHHLHRGRCTDVDECSSGAPPCGPHGHCTNTEGSFRCSCAPGYRAPSGRPGPCADVNECLEGDFCFPHGECLNTDGSFACTCAPGYRPGPRGASCLDVDECSEEDLCQSGICTNTDGSFECICPPGHRAGPDLASCLDVDECRERGPALCGSQRCENSPGSYRCVRDCDPGYHAGPEGTCDDVDECQEYGPEICGAQRCENTPGSYRCTPACDPGYQPTPGGGCQDVDECRNRSFCGAHAVCQNLPGSFQCLCDQGYEGARDGRHCVDVNECETLQGVCGAALCENVEGSFLCVCPNSPEEFDPMTGRCVPPRTSAGTFPGSQPQAPASPVLPARPPPPPLPRRPSTPRQGPVGSGRRECYFDTAAPDACDNILARNVTWQECCCTVGEGWGSGCRIQQCPGTETAEYQSLCPHGRGYLAPSGDLSLRRDVDECQLFRDQVCKSGVCVNTAPGYSCYCSNGYYYHTQRLECIDNDECADEEPACEGGRCVNTVGSYHCTCEPPLVLDGSQRRCVSNESQSLDDNLGVCWQEVGADLVCSHPRLDRQATYTECCCLYGEAWGMDCALCPAQDSDDFEALCNVLRPPAYSPPRPGGFGLPYEYGPDLGPPYQGLPYGPELYPPPALPYDPYPPPPGPFARREAPYGAPRFDMPDFEDDGGPYGESEAPAPPGPGTRWPYRSRDTRRSFPEPEEPPEGGSYAGSLAEPYEELEAEECGILDGCTNGRCVRVPEGFTCRCFDGYRLDMTRMACVDINECDEAEAASPLCVNARCLNTDGSFRCICRPGFAPTHQPHHCAPARPRA
Domains
DOMAIN 149 181 EGF-like 1 DOMAIN 287 339 TB 1 DOMAIN 357 397 EGF-like 2 calcium-binding DOMAIN 407 459 TB 2 DOMAIN 545 586 EGF-like 3 DOMAIN 587 628 EGF-like 4 calcium-binding DOMAIN 629 670 EGF-like 5 calcium-binding DOMAIN 671 708 EGF-like 6 calcium-binding DOMAIN 710 751 EGF-like 7 calcium-binding DOMAIN 752 793 EGF-like 8 calcium-binding DOMAIN 834 877 EGF-like 9 calcium-binding DOMAIN 878 919 EGF-like 10 calcium-binding DOMAIN 920 960 EGF-like 11 calcium-binding DOMAIN 1049 1090 EGF-like 12 calcium-binding DOMAIN 1181 1235 TB 3 DOMAIN 1253 1295 EGF-like 13 calcium-binding DOMAIN 1296 1337 EGF-like 14 calcium-binding DOMAIN 1349 1402 TB 4 DOMAIN 1533 1573 EGF-like 15 DOMAIN 1574 1618 EGF-like 16
EGF-like sequence regions
149 - 181 VLCPLICHNGGVCVKPDRCLCPPDFAGKFCQLH 357 - 397 DECATGGRCQHGECANTRGGYTCVCPDGFLLDSSRSSCISQ 545 - 586 GMCQRNPQVCGPGRCISRPSGYTCACDSGFRLSPQGTRCIDV 587 - 628 DECRRVPPPCAPGRCENSPGSFRCVCGPGFRAGPRAAECLDV 629 - 670 DECHRVPPPCDLGRCENTPGSFLCVCPAGYQAAPHGASCQDV 671 - 708 DECTQSPGLCGRGACKNLPGSFRCVCPAGFRGSACEED 710 - 751 DECAQEPPPCGPGRCDNTAGSFHCACPAGFRSRGPGAPCQDV 752 - 793 DECARSPPPCTYGRCENTEGSFQCVCPMGFQPNTAGSECEDV 834 - 877 DECSSGAPPCGPHGHCTNTEGSFRCSCAPGYRAPSGRPGPCADV 878 - 919 NECLEGDFCFPHGECLNTDGSFACTCAPGYRPGPRGASCLDV 920 - 960 DECSEEDLCQSGICTNTDGSFECICPPGHRAGPDLASCLDV 1049 - 1090 DECRNRSFCGAHAVCQNLPGSFQCLCDQGYEGARDGRHCVDV 1253 - 1295 DECQLFRDQVCKSGVCVNTAPGYSCYCSNGYYYHTQRLECIDN 1296 - 1337 DECADEEPACEGGRCVNTVGSYHCTCEPPLVLDGSQRRCVSN 1533 - 1573 EECGILDGCTNGRCVRVPEGFTCRCFDGYRLDMTRMACVDI 1574 - 1618 NECDEAEAASPLCVNARCLNTDGSFRCICRPGFAPTHQPHHCAPA
Function
"May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role in the extracellular matrix (ECM) (By similarity)"
Disease
"DISEASE: Urban-Rifkin-Davis syndrome (URDS) [MIM:613177]: A syndrome characterized by disrupted pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial and dermal development Clinical features include cutis laxa, mild cardiovascular lesions, respiratory distress with cystic and atelectatic changes in the lungs, and diverticulosis, tortuosity and stenosis at various levels of the intestinal tract Craniofacial features include microretrognathia, flat midface, receding forehead and wide fontanelles Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Duchenne muscular dystrophy (DMD) [MIM:310200]: Most common form of muscular dystrophy; a sex-linked recessive disorder It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs The pelvic girdle is affected first, then the shoulder girdle Progression is steady and most patients are confined to a wheelchair by age of 10 or 12 Flexion contractures and scoliosis ultimately occur About 50% of patients have a lower IQ than their genetic expectations would suggest There is no treatment Note=The gene represented in this entry may act as a disease modifier DMD patients homozygous for the IAAM haplotype consisting of Ile-194, Ala-787, Ala-820 and Met-1141 remain ambulatory significantly longer than those heterozygous or homozygous for the VTTT haplotype consisting of Val-194, Thr-787, Thr-820 and Thr-1141 This may be due to increased binding to TGFB1, resulting in TGFB1 sequestration in the extracellular matrix and reduced TGFB1 signaling which has been linked to improved muscle function and regeneration"