Q8N2S1 (LTBP4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Latent-transforming growth factor beta-binding protein 4
Short name=LTBP-4

Gene names

Name:

LTBP4

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1624 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

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 extra cellular matrix (ECM) By similarity.
Subunit structure	Forms part of the large latent transforming growth factor beta precursor complex; removal is essential for activation of complex. Interacts with LTBP1 and TGFB1. Binds to FBN1 By similarity. Ref.2
Subcellular location	Secreted › extracellular space › extracellular matrix Ref.2 Ref.5.
Tissue specificity	Highly expressed in heart, skeletal muscle, pancreas, uterus, and small intestine. Weakly expressed in placenta and lung. Ref.1 Ref.2
Developmental stage	Very low expression in fetal brain, liver, heart, spleen and thymus. Ref.2
Post-translational modification	Contains hydroxylated asparagine residues By similarity.
Involvement in 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. Ref.6
Sequence similarities	Belongs to the LTBP family. Contains 16 EGF-like domains. Contains 4 TB (TGF-beta binding) domains.

Ontologies

Keywords
Cellular component	Extracellular matrix Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	EGF-like domain Repeat Signal
Ligand	Growth factor binding
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	growth hormone secretion Traceable author statement Ref.2. Source: UniProtKB multicellular organismal development Traceable author statement Ref.2. Source: UniProtKB protein folding Traceable author statement Ref.2. Source: UniProtKB regulation of cell differentiation Traceable author statement Ref.2. Source: UniProtKB regulation of cell growth Traceable author statement Ref.2. Source: UniProtKB regulation of proteolysis Inferred from direct assay Ref.2. Source: UniProtKB regulation of transforming growth factor beta receptor signaling pathway Traceable author statement Ref.2. Source: UniProtKB transforming growth factor beta receptor signaling pathway Inferred from electronic annotation. Source: Compara
Cellular_component	extracellular space Inferred from direct assay PubMed 20551380. Source: BHF-UCL proteinaceous extracellular matrix Inferred from direct assay Ref.2. Source: UniProtKB
Molecular_function	calcium ion binding Non-traceable author statement Ref.2. Source: UniProtKB glycosaminoglycan binding Non-traceable author statement Ref.2. Source: UniProtKB integrin binding Non-traceable author statement Ref.2. Source: UniProtKB transforming growth factor beta binding Inferred from direct assay Ref.2. Source: UniProtKB transforming growth factor beta-activated receptor activity Non-traceable author statement Ref.2. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
ATXN7	O15265	2	EBI-947718,EBI-708350
CACNA1A	O00555	2	EBI-947718,EBI-766279

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8N2S1-1)

Also known as: LTBP-4L;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q8N2S1-2)

Also known as: LTBP-4S;

The sequence of this isoform differs from the canonical sequence as follows:
     1-67: Missing.
     68-151: RAFCRVRSCQ...QRAPAGKAPV → MAGGVRLLWV...APGGPGFRAF

Isoform 3 (identifier: Q8N2S1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-68: MPRPGTSGRR...QTSRRSRCIR → MGDVKALLFVVAARARRLGGAAASESLAVSE

Isoform 4 (identifier: Q8N2S1-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-902: Missing.
     903-919: CTCAPGYRPGPRGASCL → MLGGAGGGPGLRTPCPA
     1007-1092: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 27	27	Potential
	Chain	28 – 1624	1597	Latent-transforming growth factor beta-binding protein 4		PRO_0000310964
Regions
	Domain	149 – 181	33	EGF-like 1
	Domain	287 – 339	53	TB 1
	Domain	357 – 397	41	EGF-like 2; calcium-binding Potential
	Domain	407 – 459	53	TB 2
	Domain	545 – 586	42	EGF-like 3
	Domain	587 – 628	42	EGF-like 4; calcium-binding Potential
	Domain	629 – 670	42	EGF-like 5; calcium-binding Potential
	Domain	671 – 708	38	EGF-like 6; calcium-binding Potential
	Domain	710 – 751	42	EGF-like 7; calcium-binding Potential
	Domain	752 – 793	42	EGF-like 8; calcium-binding Potential
	Domain	834 – 877	44	EGF-like 9; calcium-binding Potential
	Domain	878 – 919	42	EGF-like 10; calcium-binding Potential
	Domain	920 – 960	41	EGF-like 11; calcium-binding Potential
	Domain	1049 – 1090	42	EGF-like 12; calcium-binding Potential
	Domain	1181 – 1235	55	TB 3
	Domain	1253 – 1295	43	EGF-like 13; calcium-binding Potential
	Domain	1296 – 1337	42	EGF-like 14; calcium-binding Potential
	Domain	1349 – 1402	54	TB 4
	Domain	1533 – 1573	41	EGF-like 15
	Domain	1574 – 1618	45	EGF-like 16
	Compositional bias	478 – 565	88	Pro-rich
	Compositional bias	549 – 1118	570	Cys-rich
	Compositional bias	1119 – 1175	57	Pro-rich
	Compositional bias	1407 – 1492	86	Pro-rich
Amino acid modifications
	Glycosylation	352	1	N-linked (GlcNAc...) Potential
	Glycosylation	425	1	N-linked (GlcNAc...) Potential
	Glycosylation	1055	1	N-linked (GlcNAc...) Potential
	Glycosylation	1200	1	N-linked (GlcNAc...) Potential
	Glycosylation	1339	1	N-linked (GlcNAc...) Potential
	Disulfide bond	153 ↔ 163		By similarity
	Disulfide bond	157 ↔ 169		By similarity
	Disulfide bond	171 ↔ 180		By similarity
	Disulfide bond	361 ↔ 372		By similarity
	Disulfide bond	367 ↔ 381		By similarity
	Disulfide bond	383 ↔ 396		By similarity
	Disulfide bond	549 ↔ 561		By similarity
	Disulfide bond	556 ↔ 570		By similarity
	Disulfide bond	572 ↔ 585		By similarity
	Disulfide bond	591 ↔ 603		By similarity
	Disulfide bond	598 ↔ 612		By similarity
	Disulfide bond	614 ↔ 627		By similarity
	Disulfide bond	633 ↔ 645		By similarity
	Disulfide bond	640 ↔ 654		By similarity
	Disulfide bond	656 ↔ 669		By similarity
	Disulfide bond	675 ↔ 687		By similarity
	Disulfide bond	682 ↔ 696		By similarity
	Disulfide bond	698 ↔ 707		By similarity
	Disulfide bond	714 ↔ 726		By similarity
	Disulfide bond	721 ↔ 735		By similarity
	Disulfide bond	737 ↔ 750		By similarity
	Disulfide bond	756 ↔ 768		By similarity
	Disulfide bond	763 ↔ 777		By similarity
	Disulfide bond	779 ↔ 792		By similarity
	Disulfide bond	838 ↔ 851		By similarity
	Disulfide bond	845 ↔ 860		By similarity
	Disulfide bond	862 ↔ 876		By similarity
	Disulfide bond	882 ↔ 894		By similarity
	Disulfide bond	888 ↔ 903		By similarity
	Disulfide bond	905 ↔ 918		By similarity
	Disulfide bond	924 ↔ 935		By similarity
	Disulfide bond	930 ↔ 944		By similarity
	Disulfide bond	946 ↔ 959		By similarity
	Disulfide bond	1053 ↔ 1065		By similarity
	Disulfide bond	1059 ↔ 1074		By similarity
	Disulfide bond	1076 ↔ 1089		By similarity
	Disulfide bond	1257 ↔ 1270		By similarity
	Disulfide bond	1265 ↔ 1279		By similarity
	Disulfide bond	1281 ↔ 1294		By similarity
	Disulfide bond	1300 ↔ 1312		By similarity
	Disulfide bond	1307 ↔ 1321		By similarity
	Disulfide bond	1323 ↔ 1336		By similarity
	Disulfide bond	1537 ↔ 1548		By similarity
	Disulfide bond	1543 ↔ 1557		By similarity
	Disulfide bond	1559 ↔ 1572		By similarity
	Disulfide bond	1578 ↔ 1593		By similarity
	Disulfide bond	1588 ↔ 1602		By similarity
	Disulfide bond	1604 ↔ 1617		By similarity
Natural variations
	Alternative sequence	1 – 902	902	Missing in isoform 4.		VSP_029362
	Alternative sequence	1 – 68	68	MPRPG…SRCIR → MGDVKALLFVVAARARRLGG AAASESLAVSE in isoform 3.		VSP_029363
	Alternative sequence	1 – 67	67	Missing in isoform 2.		VSP_029364
	Alternative sequence	68 – 151	84	RAFCR…GKAPV → MAGGVRLLWVSLLVLLAQLG PQPGLGRLGERLRVRFTPVV CGLRCVHGPTGSRCTPTCAP RNATSVDSGAPGGAAPGGPG FRAF in isoform 2.		VSP_029365
	Alternative sequence	903 – 919	17	CTCAP…GASCL → MLGGAGGGPGLRTPCPA in isoform 4.		VSP_029366
	Alternative sequence	1007 – 1092	86	Missing in isoform 4.		VSP_029367
	Natural variant	194	1	V → I. Ref.2 Corresponds to variant rs2303729 [ dbSNP | Ensembl ].		VAR_037119
	Natural variant	311	1	C → G in URDS. Ref.6		VAR_064153
	Natural variant	635	1	R → G. Corresponds to variant rs33937741 [ dbSNP | Ensembl ].		VAR_037120
	Natural variant	679	1	P → A. Corresponds to variant rs34299942 [ dbSNP | Ensembl ].		VAR_037121
	Natural variant	787	1	T → A. Ref.2 Corresponds to variant rs1131620 [ dbSNP | Ensembl ].		VAR_037122
	Natural variant	820	1	T → A. Ref.2 Corresponds to variant rs1051303 [ dbSNP | Ensembl ].		VAR_037123
	Natural variant	1141	1	T → M. Ref.1 Ref.2 Corresponds to variant rs10880 [ dbSNP | Ensembl ].		VAR_037124
Experimental info
	Sequence conflict	170	1	L → F in CAA73944. Ref.1
	Sequence conflict	346	1	T → A in BAC11024. Ref.3
	Sequence conflict	526	1	L → F in AAC39879. Ref.2
	Sequence conflict	526	1	L → F in AAC39880. Ref.2
	Sequence conflict	686	1	A → G in CAA73944. Ref.1
	Sequence conflict	974	1	G → R in BAC11024. Ref.3
	Sequence conflict	1139	1	A → V in CAA73944. Ref.1
	Sequence conflict	1142	1	F → S in CAA73944. Ref.1
	Sequence conflict	1151	1	A → V in CAA73944. Ref.1
	Sequence conflict	1165	1	P → S in CAA73944. Ref.1
	Sequence conflict	1169 – 1170	2	ST → RK in CAA73944. Ref.1
	Sequence conflict	1173	1	Q → K in CAA73944. Ref.1
	Sequence conflict	1180	1	R → C in CAA73944. Ref.1
	Sequence conflict	1402	1	C → R in BAC11024. Ref.3
	Sequence conflict	1512	1	P → S in BAC11024. Ref.3
	Sequence conflict	1546	1	G → D in CAA73944. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (LTBP-4L) [UniParc]. Last modified November 13, 2007. Version 2. Checksum: 75682D1F6E40657A	FASTA	1,624	173,435
	10 20 30 40 50 60 MPRPGTSGRR PLLLVLLLPL FAAATSAASP SPSPSQVVEV PGVPSRPASV AVCRCCPGQT 70 80 90 100 110 120 SRRSRCIRAF CRVRSCQPKK CAGPQRCLNP VPAVPSPSPS VRKRQVSLNW QPLTLQEARA 130 140 150 160 170 180 LLKRRRPRGP GGRGLLRRRP PQRAPAGKAP VLCPLICHNG GVCVKPDRCL CPPDFAGKFC 190 200 210 220 230 240 QLHSSGARPP APAVPGLTRS VYTMPLANHR DDEHGVASMV SVHVEHPQEA SVVVHQVERV 250 260 270 280 290 300 SGPWEEADAE AVARAEAAAR AEAAAPYTVL AQSAPREDGY SDASGFGYCF RELRGGECAS 310 320 330 340 350 360 PLPGLRTQEV CCRGAGLAWG VHDCQLCSER LGNSERVSAP DGPCPTGFER VNGSCEDVDE 370 380 390 400 410 420 CATGGRCQHG ECANTRGGYT CVCPDGFLLD SSRSSCISQH VISEAKGPCF RVLRDGGCSL 430 440 450 460 470 480 PILRNITKQI CCCSRVGKAW GRGCQLCPPF GSEGFREICP AGPGYHYSAS DLRYNTRPLG 490 500 510 520 530 540 QEPPRVSLSQ PRTLPATSRP SAGFLPTHRL EPRPEPRPDP RPGPELPLPS IPAWTGPEIP 550 560 570 580 590 600 ESGPSSGMCQ RNPQVCGPGR CISRPSGYTC ACDSGFRLSP QGTRCIDVDE CRRVPPPCAP 610 620 630 640 650 660 GRCENSPGSF RCVCGPGFRA GPRAAECLDV DECHRVPPPC DLGRCENTPG SFLCVCPAGY 670 680 690 700 710 720 QAAPHGASCQ DVDECTQSPG LCGRGACKNL PGSFRCVCPA GFRGSACEED VDECAQEPPP 730 740 750 760 770 780 CGPGRCDNTA GSFHCACPAG FRSRGPGAPC QDVDECARSP PPCTYGRCEN TEGSFQCVCP 790 800 810 820 830 840 MGFQPNTAGS ECEDVDECEN HLACPGQECV NSPGSFQCRT CPSGHHLHRG RCTDVDECSS 850 860 870 880 890 900 GAPPCGPHGH CTNTEGSFRC SCAPGYRAPS GRPGPCADVN ECLEGDFCFP HGECLNTDGS 910 920 930 940 950 960 FACTCAPGYR PGPRGASCLD VDECSEEDLC QSGICTNTDG SFECICPPGH RAGPDLASCL 970 980 990 1000 1010 1020 DVDECRERGP ALCGSQRCEN SPGSYRCVRD CDPGYHAGPE GTCDDVDECQ EYGPEICGAQ 1030 1040 1050 1060 1070 1080 RCENTPGSYR CTPACDPGYQ PTPGGGCQDV DECRNRSFCG AHAVCQNLPG SFQCLCDQGY 1090 1100 1110 1120 1130 1140 EGARDGRHCV DVNECETLQG VCGAALCENV EGSFLCVCPN SPEEFDPMTG RCVPPRTSAG 1150 1160 1170 1180 1190 1200 TFPGSQPQAP ASPVLPARPP PPPLPRRPST PRQGPVGSGR RECYFDTAAP DACDNILARN 1210 1220 1230 1240 1250 1260 VTWQECCCTV GEGWGSGCRI QQCPGTETAE YQSLCPHGRG YLAPSGDLSL RRDVDECQLF 1270 1280 1290 1300 1310 1320 RDQVCKSGVC VNTAPGYSCY CSNGYYYHTQ RLECIDNDEC ADEEPACEGG RCVNTVGSYH 1330 1340 1350 1360 1370 1380 CTCEPPLVLD GSQRRCVSNE SQSLDDNLGV CWQEVGADLV CSHPRLDRQA TYTECCCLYG 1390 1400 1410 1420 1430 1440 EAWGMDCALC PAQDSDDFEA LCNVLRPPAY SPPRPGGFGL PYEYGPDLGP PYQGLPYGPE 1450 1460 1470 1480 1490 1500 LYPPPALPYD PYPPPPGPFA RREAPYGAPR FDMPDFEDDG GPYGESEAPA PPGPGTRWPY 1510 1520 1530 1540 1550 1560 RSRDTRRSFP EPEEPPEGGS YAGSLAEPYE ELEAEECGIL DGCTNGRCVR VPEGFTCRCF 1570 1580 1590 1600 1610 1620 DGYRLDMTRM ACVDINECDE AEAASPLCVN ARCLNTDGSF RCICRPGFAP THQPHHCAPA RPRA
	Isoform 2 (LTBP-4S) [UniParc]. Checksum: 3F2995909633F6D0	FASTA	1,557	165,742
	10 20 30 40 50 60 MAGGVRLLWV SLLVLLAQLG PQPGLGRLGE RLRVRFTPVV CGLRCVHGPT GSRCTPTCAP 70 80 90 100 110 120 RNATSVDSGA PGGAAPGGPG FRAFLCPLIC HNGGVCVKPD RCLCPPDFAG KFCQLHSSGA 130 140 150 160 170 180 RPPAPAVPGL TRSVYTMPLA NHRDDEHGVA SMVSVHVEHP QEASVVVHQV ERVSGPWEEA 190 200 210 220 230 240 DAEAVARAEA AARAEAAAPY TVLAQSAPRE DGYSDASGFG YCFRELRGGE CASPLPGLRT 250 260 270 280 290 300 QEVCCRGAGL AWGVHDCQLC SERLGNSERV SAPDGPCPTG FERVNGSCED VDECATGGRC 310 320 330 340 350 360 QHGECANTRG GYTCVCPDGF LLDSSRSSCI SQHVISEAKG PCFRVLRDGG CSLPILRNIT 370 380 390 400 410 420 KQICCCSRVG KAWGRGCQLC PPFGSEGFRE ICPAGPGYHY SASDLRYNTR PLGQEPPRVS 430 440 450 460 470 480 LSQPRTLPAT SRPSAGFLPT HRLEPRPEPR PDPRPGPELP LPSIPAWTGP EIPESGPSSG 490 500 510 520 530 540 MCQRNPQVCG PGRCISRPSG YTCACDSGFR LSPQGTRCID VDECRRVPPP CAPGRCENSP 550 560 570 580 590 600 GSFRCVCGPG FRAGPRAAEC LDVDECHRVP PPCDLGRCEN TPGSFLCVCP AGYQAAPHGA 610 620 630 640 650 660 SCQDVDECTQ SPGLCGRGAC KNLPGSFRCV CPAGFRGSAC EEDVDECAQE PPPCGPGRCD 670 680 690 700 710 720 NTAGSFHCAC PAGFRSRGPG APCQDVDECA RSPPPCTYGR CENTEGSFQC VCPMGFQPNT 730 740 750 760 770 780 AGSECEDVDE CENHLACPGQ ECVNSPGSFQ CRTCPSGHHL HRGRCTDVDE CSSGAPPCGP 790 800 810 820 830 840 HGHCTNTEGS FRCSCAPGYR APSGRPGPCA DVNECLEGDF CFPHGECLNT DGSFACTCAP 850 860 870 880 890 900 GYRPGPRGAS CLDVDECSEE DLCQSGICTN TDGSFECICP PGHRAGPDLA SCLDVDECRE 910 920 930 940 950 960 RGPALCGSQR CENSPGSYRC VRDCDPGYHA GPEGTCDDVD ECQEYGPEIC GAQRCENTPG 970 980 990 1000 1010 1020 SYRCTPACDP GYQPTPGGGC QDVDECRNRS FCGAHAVCQN LPGSFQCLCD QGYEGARDGR 1030 1040 1050 1060 1070 1080 HCVDVNECET LQGVCGAALC ENVEGSFLCV CPNSPEEFDP MTGRCVPPRT SAGTFPGSQP 1090 1100 1110 1120 1130 1140 QAPASPVLPA RPPPPPLPRR PSTPRQGPVG SGRRECYFDT AAPDACDNIL ARNVTWQECC 1150 1160 1170 1180 1190 1200 CTVGEGWGSG CRIQQCPGTE TAEYQSLCPH GRGYLAPSGD LSLRRDVDEC QLFRDQVCKS 1210 1220 1230 1240 1250 1260 GVCVNTAPGY SCYCSNGYYY HTQRLECIDN DECADEEPAC EGGRCVNTVG SYHCTCEPPL 1270 1280 1290 1300 1310 1320 VLDGSQRRCV SNESQSLDDN LGVCWQEVGA DLVCSHPRLD RQATYTECCC LYGEAWGMDC 1330 1340 1350 1360 1370 1380 ALCPAQDSDD FEALCNVLRP PAYSPPRPGG FGLPYEYGPD LGPPYQGLPY GPELYPPPAL 1390 1400 1410 1420 1430 1440 PYDPYPPPPG PFARREAPYG APRFDMPDFE DDGGPYGESE APAPPGPGTR WPYRSRDTRR 1450 1460 1470 1480 1490 1500 SFPEPEEPPE GGSYAGSLAE PYEELEAEEC GILDGCTNGR CVRVPEGFTC RCFDGYRLDM 1510 1520 1530 1540 1550 TRMACVDINE CDEAEAASPL CVNARCLNTD GSFRCICRPG FAPTHQPHHC APARPRA
	Isoform 3 [UniParc]. Checksum: D7675F3B239B3D39	FASTA	1,587	169,484
	10 20 30 40 50 60 MGDVKALLFV VAARARRLGG AAASESLAVS EAFCRVRSCQ PKKCAGPQRC LNPVPAVPSP 70 80 90 100 110 120 SPSVRKRQVS LNWQPLTLQE ARALLKRRRP RGPGGRGLLR RRPPQRAPAG KAPVLCPLIC 130 140 150 160 170 180 HNGGVCVKPD RCLCPPDFAG KFCQLHSSGA RPPAPAVPGL TRSVYTMPLA NHRDDEHGVA 190 200 210 220 230 240 SMVSVHVEHP QEASVVVHQV ERVSGPWEEA DAEAVARAEA AARAEAAAPY TVLAQSAPRE 250 260 270 280 290 300 DGYSDASGFG YCFRELRGGE CASPLPGLRT QEVCCRGAGL AWGVHDCQLC SERLGNSERV 310 320 330 340 350 360 SAPDGPCPTG FERVNGSCED VDECATGGRC QHGECANTRG GYTCVCPDGF LLDSSRSSCI 370 380 390 400 410 420 SQHVISEAKG PCFRVLRDGG CSLPILRNIT KQICCCSRVG KAWGRGCQLC PPFGSEGFRE 430 440 450 460 470 480 ICPAGPGYHY SASDLRYNTR PLGQEPPRVS LSQPRTLPAT SRPSAGFLPT HRLEPRPEPR 490 500 510 520 530 540 PDPRPGPELP LPSIPAWTGP EIPESGPSSG MCQRNPQVCG PGRCISRPSG YTCACDSGFR 550 560 570 580 590 600 LSPQGTRCID VDECRRVPPP CAPGRCENSP GSFRCVCGPG FRAGPRAAEC LDVDECHRVP 610 620 630 640 650 660 PPCDLGRCEN TPGSFLCVCP AGYQAAPHGA SCQDVDECTQ SPGLCGRGAC KNLPGSFRCV 670 680 690 700 710 720 CPAGFRGSAC EEDVDECAQE PPPCGPGRCD NTAGSFHCAC PAGFRSRGPG APCQDVDECA 730 740 750 760 770 780 RSPPPCTYGR CENTEGSFQC VCPMGFQPNT AGSECEDVDE CENHLACPGQ ECVNSPGSFQ 790 800 810 820 830 840 CRTCPSGHHL HRGRCTDVDE CSSGAPPCGP HGHCTNTEGS FRCSCAPGYR APSGRPGPCA 850 860 870 880 890 900 DVNECLEGDF CFPHGECLNT DGSFACTCAP GYRPGPRGAS CLDVDECSEE DLCQSGICTN 910 920 930 940 950 960 TDGSFECICP PGHRAGPDLA SCLDVDECRE RGPALCGSQR CENSPGSYRC VRDCDPGYHA 970 980 990 1000 1010 1020 GPEGTCDDVD ECQEYGPEIC GAQRCENTPG SYRCTPACDP GYQPTPGGGC QDVDECRNRS 1030 1040 1050 1060 1070 1080 FCGAHAVCQN LPGSFQCLCD QGYEGARDGR HCVDVNECET LQGVCGAALC ENVEGSFLCV 1090 1100 1110 1120 1130 1140 CPNSPEEFDP MTGRCVPPRT SAGTFPGSQP QAPASPVLPA RPPPPPLPRR PSTPRQGPVG 1150 1160 1170 1180 1190 1200 SGRRECYFDT AAPDACDNIL ARNVTWQECC CTVGEGWGSG CRIQQCPGTE TAEYQSLCPH 1210 1220 1230 1240 1250 1260 GRGYLAPSGD LSLRRDVDEC QLFRDQVCKS GVCVNTAPGY SCYCSNGYYY HTQRLECIDN 1270 1280 1290 1300 1310 1320 DECADEEPAC EGGRCVNTVG SYHCTCEPPL VLDGSQRRCV SNESQSLDDN LGVCWQEVGA 1330 1340 1350 1360 1370 1380 DLVCSHPRLD RQATYTECCC LYGEAWGMDC ALCPAQDSDD FEALCNVLRP PAYSPPRPGG 1390 1400 1410 1420 1430 1440 FGLPYEYGPD LGPPYQGLPY GPELYPPPAL PYDPYPPPPG PFARREAPYG APRFDMPDFE 1450 1460 1470 1480 1490 1500 DDGGPYGESE APAPPGPGTR WPYRSRDTRR SFPEPEEPPE GGSYAGSLAE PYEELEAEEC 1510 1520 1530 1540 1550 1560 GILDGCTNGR CVRVPEGFTC RCFDGYRLDM TRMACVDINE CDEAEAASPL CVNARCLNTD 1570 1580 GSFRCICRPG FAPTHQPHHC APARPRA
	Isoform 4 [UniParc]. Checksum: 0CAA11F48CB0C133	FASTA	636	68,525
	10 20 30 40 50 60 MLGGAGGGPG LRTPCPADVD ECSEEDLCQS GICTNTDGSF ECICPPGHRA GPDLASCLDV 70 80 90 100 110 120 DECRERGPAL CGSQRCENSP GSYRCVRDCD PGYHAGPEGT CDDVNECETL QGVCGAALCE 130 140 150 160 170 180 NVEGSFLCVC PNSPEEFDPM TGRCVPPRTS AGTFPGSQPQ APASPVLPAR PPPPPLPRRP 190 200 210 220 230 240 STPRQGPVGS GRRECYFDTA APDACDNILA RNVTWQECCC TVGEGWGSGC RIQQCPGTET 250 260 270 280 290 300 AEYQSLCPHG RGYLAPSGDL SLRRDVDECQ LFRDQVCKSG VCVNTAPGYS CYCSNGYYYH 310 320 330 340 350 360 TQRLECIDND ECADEEPACE GGRCVNTVGS YHCTCEPPLV LDGSQRRCVS NESQSLDDNL 370 380 390 400 410 420 GVCWQEVGAD LVCSHPRLDR QATYTECCCL YGEAWGMDCA LCPAQDSDDF EALCNVLRPP 430 440 450 460 470 480 AYSPPRPGGF GLPYEYGPDL GPPYQGLPYG PELYPPPALP YDPYPPPPGP FARREAPYGA 490 500 510 520 530 540 PRFDMPDFED DGGPYGESEA PAPPGPGTRW PYRSRDTRRS FPEPEEPPEG GSYAGSLAEP 550 560 570 580 590 600 YEELEAEECG ILDGCTNGRC VRVPEGFTCR CFDGYRLDMT RMACVDINEC DEAEAASPLC 610 620 630 VNARCLNTDG SFRCICRPGF APTHQPHHCA PARPRA

References

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[1]	"Sequence and expression of a novel member (LTBP-4) of the family of latent transforming growth factor-beta binding proteins." Giltay R., Kostka G., Timpl R. FEBS Lett. 411:164-168(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY, VARIANT MET-1141.
[2]	"Identification and characterization of a new latent transforming growth factor-beta-binding protein, LTBP-4." Saharinen J., Taipale J., Monni O., Keski-Oja J. J. Biol. Chem. 273:18459-18469(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, ALTERNATIVE SPLICING, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, INTERACTION WITH LTBP1 AND TGFB1, VARIANTS ILE-194; ALA-787; ALA-820 AND MET-1141. Tissue: Heart.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Embryo.
[4]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"Sequential deposition of latent TGF-beta binding proteins (LTBPs) during formation of the extracellular matrix in human lung fibroblasts." Koli K., Hyytieainen M., Ryynanen M.J., Keski-Oja J. Exp. Cell Res. 310:370-382(2005) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION.
[6]	"Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development." Urban Z., Hucthagowder V., Schuermann N., Todorovic V., Zilberberg L., Choi J., Sens C., Brown C.W., Clark R.D., Holland K.E., Marble M., Sakai L.Y., Dabovic B., Rifkin D.B., Davis E.C. Am. J. Hum. Genet. 85:593-605(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT URDS GLY-311.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	Y13622 mRNA. Translation: CAA73944.1. AF051344 mRNA. Translation: AAC39879.2. AF051345 mRNA. Translation: AAC39880.2. AK074499 mRNA. Translation: BAC11024.1. AC010412 Genomic DNA. No translation available.
IPI	IPI00395783. IPI00783492. IPI00792792. IPI00873371.
RefSeq	NP_001036009.1. NM_001042544.1. NP_001036010.1. NM_001042545.1. NP_003564.2. NM_003573.2.
UniGene	Hs.466766.
3D structure databases
HSSP	HSSP built from PDB template 1KSQ based on UniProtKB P22064.
ProteinModelPortal	Q8N2S1.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8N2S1. 30 interactions.
MINT	MINT-2794871.
STRING	9606.ENSP00000311905.
PTM databases
PhosphoSite	Q8N2S1.
Polymorphism databases
DMDM	160410003.
Proteomic databases
PaxDb	Q8N2S1.
PRIDE	Q8N2S1.
Protocols and materials databases
DNASU	8425.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000308370; ENSP00000311905; ENSG00000090006.
GeneID	8425.
KEGG	hsa:8425.
UCSC	uc002oog.1. human. uc002ooh.1. human. uc002ooi.1. human. uc002ooj.1. human.
Organism-specific databases
CTD	8425.
GeneCards	GC19P041099.
HGNC	HGNC:6717. LTBP4.
HPA	CAB015194.
MIM	604710. gene. 613177. phenotype.
neXtProt	NX_Q8N2S1.
Orphanet	221145. Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies.
PharmGKB	PA30480.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG261153.
HOGENOM	HOG000293153.
HOVERGEN	HBG052370.
InParanoid	Q8N2S1.
KO	K08023.
Enzyme and pathway databases
Reactome	REACT_118779. Extracellular matrix organization.
Gene expression databases
ArrayExpress	Q8N2S1.
Bgee	Q8N2S1.
CleanEx	HS_LTBP4.
Genevestigator	Q8N2S1.
Family and domain databases
Gene3D	3.90.290.10. 5 hits.
InterPro	IPR026823. cEGF. IPR000742. EG-like_dom. IPR001881. EGF-like_Ca-bd. IPR013032. EGF-like_CS. IPR000152. EGF-type_Asp/Asn_hydroxyl_site. IPR018097. EGF_Ca-bd_CS. IPR017878. TB_dom. [Graphical view]
Pfam	PF12662. cEGF. 1 hit. PF07645. EGF_CA. 15 hits. PF00683. TB. 3 hits. [Graphical view]
SMART	SM00181. EGF. 4 hits. SM00179. EGF_CA. 16 hits. [Graphical view]
SUPFAM	SSF57581. Fibril-assoc. 4 hits.
PROSITE	PS00010. ASX_HYDROXYL. 14 hits. PS00022. EGF_1. 2 hits. PS01186. EGF_2. 12 hits. PS50026. EGF_3. 15 hits. PS01187. EGF_CA. 17 hits. PS51364. TB. 4 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	LTBP4. human.
GenomeRNAi	8425.
NextBio	31524.
SOURCE	Search...

Entry information

Entry name

LTBP4_HUMAN

Accession

Primary (citable) accession number: Q8N2S1
Secondary accession number(s): O00508, O75412, O75413

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 13, 2007
Last sequence update:	November 13, 2007
Last modified:	May 1, 2013
This is version 99 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.