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Protein

Latent-transforming growth factor beta-binding protein 4

Gene

LTBP4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).By similarity

GO - Molecular functioni

  • calcium ion binding Source: UniProtKB
  • glycosaminoglycan binding Source: UniProtKB
  • integrin binding Source: UniProtKB
  • transforming growth factor beta-activated receptor activity Source: UniProtKB
  • transforming growth factor beta binding Source: UniProtKB

GO - Biological processi

  • growth hormone secretion Source: UniProtKB
  • multicellular organism development Source: UniProtKB
  • protein folding Source: UniProtKB
  • regulation of cell differentiation Source: UniProtKB
  • regulation of cell growth Source: UniProtKB
  • regulation of proteolysis Source: UniProtKB
  • regulation of transforming growth factor beta receptor signaling pathway Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

Growth factor binding

Enzyme and pathway databases

ReactomeiR-HSA-2129379. Molecules associated with elastic fibres.

Names & Taxonomyi

Protein namesi
Recommended name:
Latent-transforming growth factor beta-binding protein 4
Short name:
LTBP-4
Gene namesi
Name:LTBP4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:6717. LTBP4.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • extracellular matrix Source: UniProtKB
  • extracellular region Source: Reactome
  • extracellular space Source: BHF-UCL
  • proteinaceous extracellular matrix Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Urban-Rifkin-Davis syndrome (URDS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613177
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064153311C → G in URDS. 1 PublicationCorresponds to variant rs267607229dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi8425.
MalaCardsiLTBP4.
MIMi613177. phenotype.
OpenTargetsiENSG00000090006.
Orphaneti221145. Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies.
98896. Duchenne muscular dystrophy.
PharmGKBiPA30480.

Polymorphism and mutation databases

BioMutaiLTBP4.
DMDMi160410003.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 27Sequence analysisAdd BLAST27
ChainiPRO_000031096428 – 1624Latent-transforming growth factor beta-binding protein 4Add BLAST1597

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi153 ↔ 163PROSITE-ProRule annotation
Disulfide bondi157 ↔ 169PROSITE-ProRule annotation
Disulfide bondi171 ↔ 180PROSITE-ProRule annotation
Disulfide bondi289 ↔ 311PROSITE-ProRule annotation
Disulfide bondi298 ↔ 324PROSITE-ProRule annotation
Disulfide bondi312 ↔ 327PROSITE-ProRule annotation
Glycosylationi352N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi361 ↔ 372PROSITE-ProRule annotation
Disulfide bondi367 ↔ 381PROSITE-ProRule annotation
Disulfide bondi383 ↔ 396PROSITE-ProRule annotation
Disulfide bondi409 ↔ 431PROSITE-ProRule annotation
Disulfide bondi418 ↔ 444PROSITE-ProRule annotation
Glycosylationi425N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi432 ↔ 447PROSITE-ProRule annotation
Disulfide bondi433 ↔ 459PROSITE-ProRule annotation
Disulfide bondi549 ↔ 561PROSITE-ProRule annotation
Disulfide bondi556 ↔ 570PROSITE-ProRule annotation
Disulfide bondi572 ↔ 585PROSITE-ProRule annotation
Disulfide bondi591 ↔ 603PROSITE-ProRule annotation
Disulfide bondi598 ↔ 612PROSITE-ProRule annotation
Disulfide bondi614 ↔ 627PROSITE-ProRule annotation
Disulfide bondi633 ↔ 645PROSITE-ProRule annotation
Disulfide bondi640 ↔ 654PROSITE-ProRule annotation
Disulfide bondi656 ↔ 669PROSITE-ProRule annotation
Disulfide bondi675 ↔ 687PROSITE-ProRule annotation
Disulfide bondi682 ↔ 696PROSITE-ProRule annotation
Disulfide bondi698 ↔ 707PROSITE-ProRule annotation
Disulfide bondi714 ↔ 726PROSITE-ProRule annotation
Disulfide bondi721 ↔ 735PROSITE-ProRule annotation
Disulfide bondi737 ↔ 750PROSITE-ProRule annotation
Disulfide bondi756 ↔ 768PROSITE-ProRule annotation
Disulfide bondi763 ↔ 777PROSITE-ProRule annotation
Disulfide bondi779 ↔ 792PROSITE-ProRule annotation
Disulfide bondi838 ↔ 851PROSITE-ProRule annotation
Disulfide bondi845 ↔ 860PROSITE-ProRule annotation
Disulfide bondi862 ↔ 876PROSITE-ProRule annotation
Disulfide bondi882 ↔ 894PROSITE-ProRule annotation
Disulfide bondi888 ↔ 903PROSITE-ProRule annotation
Disulfide bondi905 ↔ 918PROSITE-ProRule annotation
Disulfide bondi924 ↔ 935PROSITE-ProRule annotation
Disulfide bondi930 ↔ 944PROSITE-ProRule annotation
Disulfide bondi946 ↔ 959PROSITE-ProRule annotation
Disulfide bondi1053 ↔ 1065PROSITE-ProRule annotation
Glycosylationi1055N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1059 ↔ 1074PROSITE-ProRule annotation
Disulfide bondi1076 ↔ 1089PROSITE-ProRule annotation
Disulfide bondi1183 ↔ 1206PROSITE-ProRule annotation
Disulfide bondi1193 ↔ 1218PROSITE-ProRule annotation
Glycosylationi1200N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1207 ↔ 1223PROSITE-ProRule annotation
Disulfide bondi1208 ↔ 1235PROSITE-ProRule annotation
Disulfide bondi1257 ↔ 1270PROSITE-ProRule annotation
Disulfide bondi1265 ↔ 1279PROSITE-ProRule annotation
Disulfide bondi1281 ↔ 1294PROSITE-ProRule annotation
Disulfide bondi1300 ↔ 1312PROSITE-ProRule annotation
Disulfide bondi1307 ↔ 1321PROSITE-ProRule annotation
Disulfide bondi1323 ↔ 1336PROSITE-ProRule annotation
Glycosylationi1339N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1351 ↔ 1375PROSITE-ProRule annotation
Disulfide bondi1361 ↔ 1387PROSITE-ProRule annotation
Disulfide bondi1376 ↔ 1390PROSITE-ProRule annotation
Disulfide bondi1377 ↔ 1402PROSITE-ProRule annotation
Disulfide bondi1537 ↔ 1548PROSITE-ProRule annotation
Disulfide bondi1543 ↔ 1557PROSITE-ProRule annotation
Disulfide bondi1559 ↔ 1572PROSITE-ProRule annotation
Disulfide bondi1578 ↔ 1593PROSITE-ProRule annotation
Disulfide bondi1588 ↔ 1602PROSITE-ProRule annotation
Disulfide bondi1604 ↔ 1617PROSITE-ProRule annotation

Post-translational modificationi

Contains hydroxylated asparagine residues.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ8N2S1.
PaxDbiQ8N2S1.
PeptideAtlasiQ8N2S1.
PRIDEiQ8N2S1.

PTM databases

iPTMnetiQ8N2S1.
PhosphoSitePlusiQ8N2S1.

Expressioni

Tissue specificityi

Highly expressed in heart, skeletal muscle, pancreas, uterus, and small intestine. Weakly expressed in placenta and lung.2 Publications

Developmental stagei

Very low expression in fetal brain, liver, heart, spleen and thymus.1 Publication

Gene expression databases

BgeeiENSG00000090006.
CleanExiHS_LTBP4.
ExpressionAtlasiQ8N2S1. baseline and differential.
GenevisibleiQ8N2S1. HS.

Organism-specific databases

HPAiCAB015194.

Interactioni

Subunit structurei

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).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
ATXN7O152652EBI-947718,EBI-708350
CACNA1AO005552EBI-947718,EBI-766279

GO - Molecular functioni

  • integrin binding Source: UniProtKB
  • transforming growth factor beta binding Source: UniProtKB

Protein-protein interaction databases

BioGridi114009. 32 interactors.
IntActiQ8N2S1. 32 interactors.
MINTiMINT-2794871.
STRINGi9606.ENSP00000311905.

Structurei

3D structure databases

ProteinModelPortaliQ8N2S1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini149 – 181EGF-like 1PROSITE-ProRule annotationAdd BLAST33
Domaini287 – 339TB 1PROSITE-ProRule annotationAdd BLAST53
Domaini357 – 397EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini407 – 459TB 2PROSITE-ProRule annotationAdd BLAST53
Domaini545 – 586EGF-like 3PROSITE-ProRule annotationAdd BLAST42
Domaini587 – 628EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini629 – 670EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini671 – 708EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd BLAST38
Domaini710 – 751EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini752 – 793EGF-like 8; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini834 – 877EGF-like 9; calcium-bindingPROSITE-ProRule annotationAdd BLAST44
Domaini878 – 919EGF-like 10; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini920 – 960EGF-like 11; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini1049 – 1090EGF-like 12; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1181 – 1235TB 3PROSITE-ProRule annotationAdd BLAST55
Domaini1253 – 1295EGF-like 13; calcium-bindingPROSITE-ProRule annotationAdd BLAST43
Domaini1296 – 1337EGF-like 14; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1349 – 1402TB 4PROSITE-ProRule annotationAdd BLAST54
Domaini1533 – 1573EGF-like 15PROSITE-ProRule annotationAdd BLAST41
Domaini1574 – 1618EGF-like 16PROSITE-ProRule annotationAdd BLAST45

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi478 – 565Pro-richAdd BLAST88
Compositional biasi549 – 1118Cys-richAdd BLAST570
Compositional biasi1119 – 1175Pro-richAdd BLAST57
Compositional biasi1407 – 1492Pro-richAdd BLAST86

Sequence similaritiesi

Belongs to the LTBP family.Curated
Contains 16 EGF-like domains.PROSITE-ProRule annotation
Contains 4 TB (TGF-beta binding) domains.PROSITE-ProRule annotation

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410KD9E. Eukaryota.
ENOG410YAPY. LUCA.
GeneTreeiENSGT00760000118806.
HOGENOMiHOG000293153.
HOVERGENiHBG052370.
InParanoidiQ8N2S1.
KOiK08023.
OMAiWRYRSRD.
OrthoDBiEOG091G009A.
PhylomeDBiQ8N2S1.
TreeFamiTF317514.

Family and domain databases

Gene3Di3.90.290.10. 5 hits.
InterProiIPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_.
IPR017878. TB_dom.
[Graphical view]
PfamiPF07645. EGF_CA. 17 hits.
PF00683. TB. 3 hits.
[Graphical view]
SMARTiSM00181. EGF. 20 hits.
SM00179. EGF_CA. 19 hits.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 6 hits.
SSF57581. SSF57581. 4 hits.
PROSITEiPS00010. 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]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N2S1-1) [UniParc]FASTAAdd to basket
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.

« Hide

        10         20         30         40         50
MPRPGTSGRR PLLLVLLLPL FAAATSAASP SPSPSQVVEV PGVPSRPASV
60 70 80 90 100
AVCRCCPGQT SRRSRCIRAF CRVRSCQPKK CAGPQRCLNP VPAVPSPSPS
110 120 130 140 150
VRKRQVSLNW QPLTLQEARA LLKRRRPRGP GGRGLLRRRP PQRAPAGKAP
160 170 180 190 200
VLCPLICHNG GVCVKPDRCL CPPDFAGKFC QLHSSGARPP APAVPGLTRS
210 220 230 240 250
VYTMPLANHR DDEHGVASMV SVHVEHPQEA SVVVHQVERV SGPWEEADAE
260 270 280 290 300
AVARAEAAAR AEAAAPYTVL AQSAPREDGY SDASGFGYCF RELRGGECAS
310 320 330 340 350
PLPGLRTQEV CCRGAGLAWG VHDCQLCSER LGNSERVSAP DGPCPTGFER
360 370 380 390 400
VNGSCEDVDE CATGGRCQHG ECANTRGGYT CVCPDGFLLD SSRSSCISQH
410 420 430 440 450
VISEAKGPCF RVLRDGGCSL PILRNITKQI CCCSRVGKAW GRGCQLCPPF
460 470 480 490 500
GSEGFREICP AGPGYHYSAS DLRYNTRPLG QEPPRVSLSQ PRTLPATSRP
510 520 530 540 550
SAGFLPTHRL EPRPEPRPDP RPGPELPLPS IPAWTGPEIP ESGPSSGMCQ
560 570 580 590 600
RNPQVCGPGR CISRPSGYTC ACDSGFRLSP QGTRCIDVDE CRRVPPPCAP
610 620 630 640 650
GRCENSPGSF RCVCGPGFRA GPRAAECLDV DECHRVPPPC DLGRCENTPG
660 670 680 690 700
SFLCVCPAGY QAAPHGASCQ DVDECTQSPG LCGRGACKNL PGSFRCVCPA
710 720 730 740 750
GFRGSACEED VDECAQEPPP CGPGRCDNTA GSFHCACPAG FRSRGPGAPC
760 770 780 790 800
QDVDECARSP PPCTYGRCEN TEGSFQCVCP MGFQPNTAGS ECEDVDECEN
810 820 830 840 850
HLACPGQECV NSPGSFQCRT CPSGHHLHRG RCTDVDECSS GAPPCGPHGH
860 870 880 890 900
CTNTEGSFRC SCAPGYRAPS GRPGPCADVN ECLEGDFCFP HGECLNTDGS
910 920 930 940 950
FACTCAPGYR PGPRGASCLD VDECSEEDLC QSGICTNTDG SFECICPPGH
960 970 980 990 1000
RAGPDLASCL DVDECRERGP ALCGSQRCEN SPGSYRCVRD CDPGYHAGPE
1010 1020 1030 1040 1050
GTCDDVDECQ EYGPEICGAQ RCENTPGSYR CTPACDPGYQ PTPGGGCQDV
1060 1070 1080 1090 1100
DECRNRSFCG AHAVCQNLPG SFQCLCDQGY EGARDGRHCV DVNECETLQG
1110 1120 1130 1140 1150
VCGAALCENV EGSFLCVCPN SPEEFDPMTG RCVPPRTSAG TFPGSQPQAP
1160 1170 1180 1190 1200
ASPVLPARPP PPPLPRRPST PRQGPVGSGR RECYFDTAAP DACDNILARN
1210 1220 1230 1240 1250
VTWQECCCTV GEGWGSGCRI QQCPGTETAE YQSLCPHGRG YLAPSGDLSL
1260 1270 1280 1290 1300
RRDVDECQLF RDQVCKSGVC VNTAPGYSCY CSNGYYYHTQ RLECIDNDEC
1310 1320 1330 1340 1350
ADEEPACEGG RCVNTVGSYH CTCEPPLVLD GSQRRCVSNE SQSLDDNLGV
1360 1370 1380 1390 1400
CWQEVGADLV CSHPRLDRQA TYTECCCLYG EAWGMDCALC PAQDSDDFEA
1410 1420 1430 1440 1450
LCNVLRPPAY SPPRPGGFGL PYEYGPDLGP PYQGLPYGPE LYPPPALPYD
1460 1470 1480 1490 1500
PYPPPPGPFA RREAPYGAPR FDMPDFEDDG GPYGESEAPA PPGPGTRWPY
1510 1520 1530 1540 1550
RSRDTRRSFP EPEEPPEGGS YAGSLAEPYE ELEAEECGIL DGCTNGRCVR
1560 1570 1580 1590 1600
VPEGFTCRCF DGYRLDMTRM ACVDINECDE AEAASPLCVN ARCLNTDGSF
1610 1620
RCICRPGFAP THQPHHCAPA RPRA
Length:1,624
Mass (Da):173,435
Last modified:November 13, 2007 - v2
Checksum:i75682D1F6E40657A
GO
Isoform 2 (identifier: Q8N2S1-2) [UniParc]FASTAAdd to basket
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

Show »
Length:1,557
Mass (Da):165,742
Checksum:i3F2995909633F6D0
GO
Isoform 3 (identifier: Q8N2S1-3) [UniParc]FASTAAdd to basket

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

Show »
Length:1,587
Mass (Da):169,484
Checksum:iD7675F3B239B3D39
GO
Isoform 4 (identifier: Q8N2S1-4) [UniParc]FASTAAdd to basket

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.
Show »
Length:636
Mass (Da):68,525
Checksum:i0CAA11F48CB0C133
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti170L → F in CAA73944 (PubMed:9271198).Curated1
Sequence conflicti346T → A in BAC11024 (PubMed:14702039).Curated1
Sequence conflicti526L → F in AAC39879 (PubMed:9660815).Curated1
Sequence conflicti526L → F in AAC39880 (PubMed:9660815).Curated1
Sequence conflicti686A → G in CAA73944 (PubMed:9271198).Curated1
Sequence conflicti974G → R in BAC11024 (PubMed:14702039).Curated1
Sequence conflicti1139A → V in CAA73944 (PubMed:9271198).Curated1
Sequence conflicti1142F → S in CAA73944 (PubMed:9271198).Curated1
Sequence conflicti1151A → V in CAA73944 (PubMed:9271198).Curated1
Sequence conflicti1165P → S in CAA73944 (PubMed:9271198).Curated1
Sequence conflicti1169 – 1170ST → RK in CAA73944 (PubMed:9271198).Curated2
Sequence conflicti1173Q → K in CAA73944 (PubMed:9271198).Curated1
Sequence conflicti1180R → C in CAA73944 (PubMed:9271198).Curated1
Sequence conflicti1402C → R in BAC11024 (PubMed:14702039).Curated1
Sequence conflicti1512P → S in BAC11024 (PubMed:14702039).Curated1
Sequence conflicti1546G → D in CAA73944 (PubMed:9271198).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037119194V → I.1 PublicationCorresponds to variant rs2303729dbSNPEnsembl.1
Natural variantiVAR_064153311C → G in URDS. 1 PublicationCorresponds to variant rs267607229dbSNPEnsembl.1
Natural variantiVAR_037120635R → G.Corresponds to variant rs33937741dbSNPEnsembl.1
Natural variantiVAR_037121679P → A.Corresponds to variant rs34299942dbSNPEnsembl.1
Natural variantiVAR_037122787T → A.1 PublicationCorresponds to variant rs1131620dbSNPEnsembl.1
Natural variantiVAR_037123820T → A.1 PublicationCorresponds to variant rs1051303dbSNPEnsembl.1
Natural variantiVAR_0371241141T → M.2 PublicationsCorresponds to variant rs10880dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0293621 – 902Missing in isoform 4. 1 PublicationAdd BLAST902
Alternative sequenceiVSP_0293631 – 68MPRPG…SRCIR → MGDVKALLFVVAARARRLGG AAASESLAVSE in isoform 3. 1 PublicationAdd BLAST68
Alternative sequenceiVSP_0293641 – 67Missing in isoform 2. 1 PublicationAdd BLAST67
Alternative sequenceiVSP_02936568 – 151RAFCR…GKAPV → MAGGVRLLWVSLLVLLAQLG PQPGLGRLGERLRVRFTPVV CGLRCVHGPTGSRCTPTCAP RNATSVDSGAPGGAAPGGPG FRAF in isoform 2. 1 PublicationAdd BLAST84
Alternative sequenceiVSP_029366903 – 919CTCAP…GASCL → MLGGAGGGPGLRTPCPA in isoform 4. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_0293671007 – 1092Missing in isoform 4. 1 PublicationAdd BLAST86

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS74368.1. [Q8N2S1-3]
CCDS74369.1. [Q8N2S1-1]
CCDS74370.1. [Q8N2S1-2]
RefSeqiNP_001036009.1. NM_001042544.1. [Q8N2S1-1]
NP_001036010.1. NM_001042545.1. [Q8N2S1-2]
NP_003564.2. NM_003573.2.
UniGeneiHs.466766.

Genome annotation databases

EnsembliENST00000308370; ENSP00000311905; ENSG00000090006. [Q8N2S1-1]
ENST00000396819; ENSP00000380031; ENSG00000090006. [Q8N2S1-2]
GeneIDi8425.
KEGGihsa:8425.
UCSCiuc032hxp.2. human. [Q8N2S1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS74368.1. [Q8N2S1-3]
CCDS74369.1. [Q8N2S1-1]
CCDS74370.1. [Q8N2S1-2]
RefSeqiNP_001036009.1. NM_001042544.1. [Q8N2S1-1]
NP_001036010.1. NM_001042545.1. [Q8N2S1-2]
NP_003564.2. NM_003573.2.
UniGeneiHs.466766.

3D structure databases

ProteinModelPortaliQ8N2S1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114009. 32 interactors.
IntActiQ8N2S1. 32 interactors.
MINTiMINT-2794871.
STRINGi9606.ENSP00000311905.

PTM databases

iPTMnetiQ8N2S1.
PhosphoSitePlusiQ8N2S1.

Polymorphism and mutation databases

BioMutaiLTBP4.
DMDMi160410003.

Proteomic databases

MaxQBiQ8N2S1.
PaxDbiQ8N2S1.
PeptideAtlasiQ8N2S1.
PRIDEiQ8N2S1.

Protocols and materials databases

DNASUi8425.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000308370; ENSP00000311905; ENSG00000090006. [Q8N2S1-1]
ENST00000396819; ENSP00000380031; ENSG00000090006. [Q8N2S1-2]
GeneIDi8425.
KEGGihsa:8425.
UCSCiuc032hxp.2. human. [Q8N2S1-1]

Organism-specific databases

CTDi8425.
DisGeNETi8425.
GeneCardsiLTBP4.
HGNCiHGNC:6717. LTBP4.
HPAiCAB015194.
MalaCardsiLTBP4.
MIMi604710. gene.
613177. phenotype.
neXtProtiNX_Q8N2S1.
OpenTargetsiENSG00000090006.
Orphaneti221145. Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies.
98896. Duchenne muscular dystrophy.
PharmGKBiPA30480.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410KD9E. Eukaryota.
ENOG410YAPY. LUCA.
GeneTreeiENSGT00760000118806.
HOGENOMiHOG000293153.
HOVERGENiHBG052370.
InParanoidiQ8N2S1.
KOiK08023.
OMAiWRYRSRD.
OrthoDBiEOG091G009A.
PhylomeDBiQ8N2S1.
TreeFamiTF317514.

Enzyme and pathway databases

ReactomeiR-HSA-2129379. Molecules associated with elastic fibres.

Miscellaneous databases

ChiTaRSiLTBP4. human.
GenomeRNAii8425.
PROiQ8N2S1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000090006.
CleanExiHS_LTBP4.
ExpressionAtlasiQ8N2S1. baseline and differential.
GenevisibleiQ8N2S1. HS.

Family and domain databases

Gene3Di3.90.290.10. 5 hits.
InterProiIPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_.
IPR017878. TB_dom.
[Graphical view]
PfamiPF07645. EGF_CA. 17 hits.
PF00683. TB. 3 hits.
[Graphical view]
SMARTiSM00181. EGF. 20 hits.
SM00179. EGF_CA. 19 hits.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 6 hits.
SSF57581. SSF57581. 4 hits.
PROSITEiPS00010. 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]
ProtoNetiSearch...

Entry informationi

Entry nameiLTBP4_HUMAN
AccessioniPrimary (citable) accession number: Q8N2S1
Secondary accession number(s): O00508, O75412, O75413
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: November 13, 2007
Last modified: November 2, 2016
This is version 133 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.