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Q8N2S1

- LTBP4_HUMAN

UniProt

Q8N2S1 - LTBP4_HUMAN

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Protein

Latent-transforming growth factor beta-binding protein 4

Gene

LTBP4

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. calcium ion binding Source: UniProtKB
  2. glycosaminoglycan binding Source: UniProtKB
  3. integrin binding Source: UniProtKB
  4. transforming growth factor beta-activated receptor activity Source: UniProtKB
  5. transforming growth factor beta binding Source: UniProtKB

GO - Biological processi

  1. extracellular matrix organization Source: Reactome
  2. growth hormone secretion Source: UniProtKB
  3. multicellular organismal development Source: UniProtKB
  4. protein folding Source: UniProtKB
  5. regulation of cell differentiation Source: UniProtKB
  6. regulation of cell growth Source: UniProtKB
  7. regulation of proteolysis Source: UniProtKB
  8. regulation of transforming growth factor beta receptor signaling pathway Source: UniProtKB
  9. transforming growth factor beta receptor signaling pathway Source: Ensembl
Complete GO annotation...

Keywords - Ligandi

Growth factor binding

Enzyme and pathway databases

ReactomeiREACT_150331. 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
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:6717. LTBP4.

Subcellular locationi

Secretedextracellular spaceextracellular matrix 2 Publications

GO - Cellular componenti

  1. extracellular matrix Source: UniProt
  2. extracellular region Source: Reactome
  3. extracellular space Source: BHF-UCL
  4. extracellular vesicular exosome Source: UniProt
  5. proteinaceous extracellular matrix Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti311 – 3111C → G in URDS. 1 Publication
VAR_064153

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2727Sequence AnalysisAdd
BLAST
Chaini28 – 16241597Latent-transforming growth factor beta-binding protein 4PRO_0000310964Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi153 ↔ 163PROSITE-ProRule annotation
Disulfide bondi157 ↔ 169PROSITE-ProRule annotation
Disulfide bondi171 ↔ 180PROSITE-ProRule annotation
Glycosylationi352 – 3521N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi361 ↔ 372PROSITE-ProRule annotation
Disulfide bondi367 ↔ 381PROSITE-ProRule annotation
Disulfide bondi383 ↔ 396PROSITE-ProRule annotation
Glycosylationi425 – 4251N-linked (GlcNAc...)Sequence Analysis
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
Glycosylationi1055 – 10551N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi1059 ↔ 1074PROSITE-ProRule annotation
Disulfide bondi1076 ↔ 1089PROSITE-ProRule annotation
Glycosylationi1200 – 12001N-linked (GlcNAc...)Sequence Analysis
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
Glycosylationi1339 – 13391N-linked (GlcNAc...)Sequence Analysis
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.
PRIDEiQ8N2S1.

PTM databases

PhosphoSiteiQ8N2S1.

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

BgeeiQ8N2S1.
CleanExiHS_LTBP4.
ExpressionAtlasiQ8N2S1. baseline and differential.
GenevestigatoriQ8N2S1.

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

Protein-protein interaction databases

BioGridi114009. 16 interactions.
IntActiQ8N2S1. 31 interactions.
MINTiMINT-2794871.
STRINGi9606.ENSP00000311905.

Structurei

3D structure databases

ProteinModelPortaliQ8N2S1.
SMRiQ8N2S1. Positions 287-465, 551-1119, 1161-1337, 1527-1608.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini149 – 18133EGF-like 1PROSITE-ProRule annotationAdd
BLAST
Domaini287 – 33953TB 1Add
BLAST
Domaini357 – 39741EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini407 – 45953TB 2Add
BLAST
Domaini545 – 58642EGF-like 3PROSITE-ProRule annotationAdd
BLAST
Domaini587 – 62842EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini629 – 67042EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini671 – 70838EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini710 – 75142EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini752 – 79342EGF-like 8; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini834 – 87744EGF-like 9; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini878 – 91942EGF-like 10; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini920 – 96041EGF-like 11; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini1049 – 109042EGF-like 12; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini1181 – 123555TB 3Add
BLAST
Domaini1253 – 129543EGF-like 13; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini1296 – 133742EGF-like 14; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini1349 – 140254TB 4Add
BLAST
Domaini1533 – 157341EGF-like 15PROSITE-ProRule annotationAdd
BLAST
Domaini1574 – 161845EGF-like 16PROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi478 – 56588Pro-richAdd
BLAST
Compositional biasi549 – 1118570Cys-richAdd
BLAST
Compositional biasi1119 – 117557Pro-richAdd
BLAST
Compositional biasi1407 – 149286Pro-richAdd
BLAST

Sequence similaritiesi

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

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiNOG261153.
GeneTreeiENSGT00760000118806.
HOGENOMiHOG000293153.
HOVERGENiHBG052370.
InParanoidiQ8N2S1.
KOiK08023.
PhylomeDBiQ8N2S1.
TreeFamiTF317514.

Family and domain databases

Gene3Di3.90.290.10. 5 hits.
InterProiIPR026823. cEGF.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_N_dom.
IPR017878. TB_dom.
[Graphical view]
PfamiPF12662. cEGF. 1 hit.
PF07645. EGF_CA. 15 hits.
PF00683. TB. 3 hits.
[Graphical view]
SMARTiSM00181. EGF. 4 hits.
SM00179. EGF_CA. 16 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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti170 – 1701L → F in CAA73944. (PubMed:9271198)Curated
Sequence conflicti346 – 3461T → A in BAC11024. (PubMed:14702039)Curated
Sequence conflicti526 – 5261L → F in AAC39879. (PubMed:9660815)Curated
Sequence conflicti526 – 5261L → F in AAC39880. (PubMed:9660815)Curated
Sequence conflicti686 – 6861A → G in CAA73944. (PubMed:9271198)Curated
Sequence conflicti974 – 9741G → R in BAC11024. (PubMed:14702039)Curated
Sequence conflicti1139 – 11391A → V in CAA73944. (PubMed:9271198)Curated
Sequence conflicti1142 – 11421F → S in CAA73944. (PubMed:9271198)Curated
Sequence conflicti1151 – 11511A → V in CAA73944. (PubMed:9271198)Curated
Sequence conflicti1165 – 11651P → S in CAA73944. (PubMed:9271198)Curated
Sequence conflicti1169 – 11702ST → RK in CAA73944. (PubMed:9271198)Curated
Sequence conflicti1173 – 11731Q → K in CAA73944. (PubMed:9271198)Curated
Sequence conflicti1180 – 11801R → C in CAA73944. (PubMed:9271198)Curated
Sequence conflicti1402 – 14021C → R in BAC11024. (PubMed:14702039)Curated
Sequence conflicti1512 – 15121P → S in BAC11024. (PubMed:14702039)Curated
Sequence conflicti1546 – 15461G → D in CAA73944. (PubMed:9271198)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti194 – 1941V → I.1 Publication
Corresponds to variant rs2303729 [ dbSNP | Ensembl ].
VAR_037119
Natural varianti311 – 3111C → G in URDS. 1 Publication
VAR_064153
Natural varianti635 – 6351R → G.
Corresponds to variant rs33937741 [ dbSNP | Ensembl ].
VAR_037120
Natural varianti679 – 6791P → A.
Corresponds to variant rs34299942 [ dbSNP | Ensembl ].
VAR_037121
Natural varianti787 – 7871T → A.1 Publication
Corresponds to variant rs1131620 [ dbSNP | Ensembl ].
VAR_037122
Natural varianti820 – 8201T → A.1 Publication
Corresponds to variant rs1051303 [ dbSNP | Ensembl ].
VAR_037123
Natural varianti1141 – 11411T → M.2 Publications
Corresponds to variant rs10880 [ dbSNP | Ensembl ].
VAR_037124

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 902902Missing in isoform 4. 1 PublicationVSP_029362Add
BLAST
Alternative sequencei1 – 6868MPRPG…SRCIR → MGDVKALLFVVAARARRLGG AAASESLAVSE in isoform 3. 1 PublicationVSP_029363Add
BLAST
Alternative sequencei1 – 6767Missing in isoform 2. 1 PublicationVSP_029364Add
BLAST
Alternative sequencei68 – 15184RAFCR…GKAPV → MAGGVRLLWVSLLVLLAQLG PQPGLGRLGERLRVRFTPVV CGLRCVHGPTGSRCTPTCAP RNATSVDSGAPGGAAPGGPG FRAF in isoform 2. 1 PublicationVSP_029365Add
BLAST
Alternative sequencei903 – 91917CTCAP…GASCL → MLGGAGGGPGLRTPCPA in isoform 4. 1 PublicationVSP_029366Add
BLAST
Alternative sequencei1007 – 109286Missing in isoform 4. 1 PublicationVSP_029367Add
BLAST

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.
UCSCiuc002oog.1. human. [Q8N2S1-3]
uc002ooh.1. human. [Q8N2S1-1]
uc002ooi.1. human. [Q8N2S1-2]
uc002ooj.1. human. [Q8N2S1-4]

Polymorphism databases

DMDMi160410003.

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.
CCDSi CCDS74368.1. [Q8N2S1-3 ]
CCDS74369.1. [Q8N2S1-1 ]
CCDS74370.1. [Q8N2S1-2 ]
RefSeqi NP_001036009.1. NM_001042544.1. [Q8N2S1-1 ]
NP_001036010.1. NM_001042545.1. [Q8N2S1-2 ]
NP_003564.2. NM_003573.2.
UniGenei Hs.466766.

3D structure databases

ProteinModelPortali Q8N2S1.
SMRi Q8N2S1. Positions 287-465, 551-1119, 1161-1337, 1527-1608.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114009. 16 interactions.
IntActi Q8N2S1. 31 interactions.
MINTi MINT-2794871.
STRINGi 9606.ENSP00000311905.

PTM databases

PhosphoSitei Q8N2S1.

Polymorphism databases

DMDMi 160410003.

Proteomic databases

MaxQBi Q8N2S1.
PaxDbi Q8N2S1.
PRIDEi Q8N2S1.

Protocols and materials databases

DNASUi 8425.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000308370 ; ENSP00000311905 ; ENSG00000090006 . [Q8N2S1-1 ]
ENST00000396819 ; ENSP00000380031 ; ENSG00000090006 . [Q8N2S1-2 ]
GeneIDi 8425.
KEGGi hsa:8425.
UCSCi uc002oog.1. human. [Q8N2S1-3 ]
uc002ooh.1. human. [Q8N2S1-1 ]
uc002ooi.1. human. [Q8N2S1-2 ]
uc002ooj.1. human. [Q8N2S1-4 ]

Organism-specific databases

CTDi 8425.
GeneCardsi GC19P041099.
HGNCi HGNC:6717. LTBP4.
HPAi CAB015194.
MIMi 604710. gene.
613177. phenotype.
neXtProti NX_Q8N2S1.
Orphaneti 221145. Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies.
98896. Duchenne muscular dystrophy.
PharmGKBi PA30480.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG261153.
GeneTreei ENSGT00760000118806.
HOGENOMi HOG000293153.
HOVERGENi HBG052370.
InParanoidi Q8N2S1.
KOi K08023.
PhylomeDBi Q8N2S1.
TreeFami TF317514.

Enzyme and pathway databases

Reactomei REACT_150331. Molecules associated with elastic fibres.

Miscellaneous databases

ChiTaRSi LTBP4. human.
GenomeRNAii 8425.
NextBioi 31524.
PROi Q8N2S1.
SOURCEi Search...

Gene expression databases

Bgeei Q8N2S1.
CleanExi HS_LTBP4.
ExpressionAtlasi Q8N2S1. baseline and differential.
Genevestigatori Q8N2S1.

Family and domain databases

Gene3Di 3.90.290.10. 5 hits.
InterProi IPR026823. cEGF.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_N_dom.
IPR017878. TB_dom.
[Graphical view ]
Pfami PF12662. cEGF. 1 hit.
PF07645. EGF_CA. 15 hits.
PF00683. TB. 3 hits.
[Graphical view ]
SMARTi SM00181. EGF. 4 hits.
SM00179. EGF_CA. 16 hits.
[Graphical view ]
SUPFAMi SSF57184. SSF57184. 6 hits.
SSF57581. SSF57581. 4 hits.
PROSITEi 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 ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

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 26, 2014
This is version 113 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

External Data

Dasty 3