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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.

GO - Molecular functioni

  1. calcium ion binding Source: UniProtKB
  2. glycosaminoglycan binding Source: UniProtKB
  3. integrin binding Source: UniProtKB
  4. protein binding Source: IntAct
  5. transforming growth factor beta binding Source: UniProtKB
  6. transforming growth factor beta-activated receptor activity 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 – 2727 Reviewed prediction
Add
BLAST
Chaini28 – 16241597Latent-transforming growth factor beta-binding protein 4
PRO_0000310964Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi153 ↔ 163 By similarity
Disulfide bondi157 ↔ 169 By similarity
Disulfide bondi171 ↔ 180 By similarity
Glycosylationi352 – 3521N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi361 ↔ 372 By similarity
Disulfide bondi367 ↔ 381 By similarity
Disulfide bondi383 ↔ 396 By similarity
Glycosylationi425 – 4251N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi549 ↔ 561 By similarity
Disulfide bondi556 ↔ 570 By similarity
Disulfide bondi572 ↔ 585 By similarity
Disulfide bondi591 ↔ 603 By similarity
Disulfide bondi598 ↔ 612 By similarity
Disulfide bondi614 ↔ 627 By similarity
Disulfide bondi633 ↔ 645 By similarity
Disulfide bondi640 ↔ 654 By similarity
Disulfide bondi656 ↔ 669 By similarity
Disulfide bondi675 ↔ 687 By similarity
Disulfide bondi682 ↔ 696 By similarity
Disulfide bondi698 ↔ 707 By similarity
Disulfide bondi714 ↔ 726 By similarity
Disulfide bondi721 ↔ 735 By similarity
Disulfide bondi737 ↔ 750 By similarity
Disulfide bondi756 ↔ 768 By similarity
Disulfide bondi763 ↔ 777 By similarity
Disulfide bondi779 ↔ 792 By similarity
Disulfide bondi838 ↔ 851 By similarity
Disulfide bondi845 ↔ 860 By similarity
Disulfide bondi862 ↔ 876 By similarity
Disulfide bondi882 ↔ 894 By similarity
Disulfide bondi888 ↔ 903 By similarity
Disulfide bondi905 ↔ 918 By similarity
Disulfide bondi924 ↔ 935 By similarity
Disulfide bondi930 ↔ 944 By similarity
Disulfide bondi946 ↔ 959 By similarity
Disulfide bondi1053 ↔ 1065 By similarity
Glycosylationi1055 – 10551N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1059 ↔ 1074 By similarity
Disulfide bondi1076 ↔ 1089 By similarity
Glycosylationi1200 – 12001N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1257 ↔ 1270 By similarity
Disulfide bondi1265 ↔ 1279 By similarity
Disulfide bondi1281 ↔ 1294 By similarity
Disulfide bondi1300 ↔ 1312 By similarity
Disulfide bondi1307 ↔ 1321 By similarity
Disulfide bondi1323 ↔ 1336 By similarity
Glycosylationi1339 – 13391N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1537 ↔ 1548 By similarity
Disulfide bondi1543 ↔ 1557 By similarity
Disulfide bondi1559 ↔ 1572 By similarity
Disulfide bondi1578 ↔ 1593 By similarity
Disulfide bondi1588 ↔ 1602 By similarity
Disulfide bondi1604 ↔ 1617 By similarity

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

ArrayExpressiQ8N2S1.
BgeeiQ8N2S1.
CleanExiHS_LTBP4.
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.1 Publication

Binary interactionsi

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

Protein-protein interaction databases

BioGridi114009. 14 interactions.
IntActiQ8N2S1. 31 interactions.
MINTiMINT-2794871.
STRINGi9606.ENSP00000311905.

Structurei

3D structure databases

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

Family & Domainsi

Domains and Repeats

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

Compositional bias

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

Sequence similaritiesi

Belongs to the LTBP family.
Contains 16 EGF-like domains.

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiNOG261153.
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

MPRPGTSGRR PLLLVLLLPL FAAATSAASP SPSPSQVVEV PGVPSRPASV     50
AVCRCCPGQT SRRSRCIRAF CRVRSCQPKK CAGPQRCLNP VPAVPSPSPS 100
VRKRQVSLNW QPLTLQEARA LLKRRRPRGP GGRGLLRRRP PQRAPAGKAP 150
VLCPLICHNG GVCVKPDRCL CPPDFAGKFC QLHSSGARPP APAVPGLTRS 200
VYTMPLANHR DDEHGVASMV SVHVEHPQEA SVVVHQVERV SGPWEEADAE 250
AVARAEAAAR AEAAAPYTVL AQSAPREDGY SDASGFGYCF RELRGGECAS 300
PLPGLRTQEV CCRGAGLAWG VHDCQLCSER LGNSERVSAP DGPCPTGFER 350
VNGSCEDVDE CATGGRCQHG ECANTRGGYT CVCPDGFLLD SSRSSCISQH 400
VISEAKGPCF RVLRDGGCSL PILRNITKQI CCCSRVGKAW GRGCQLCPPF 450
GSEGFREICP AGPGYHYSAS DLRYNTRPLG QEPPRVSLSQ PRTLPATSRP 500
SAGFLPTHRL EPRPEPRPDP RPGPELPLPS IPAWTGPEIP ESGPSSGMCQ 550
RNPQVCGPGR CISRPSGYTC ACDSGFRLSP QGTRCIDVDE CRRVPPPCAP 600
GRCENSPGSF RCVCGPGFRA GPRAAECLDV DECHRVPPPC DLGRCENTPG 650
SFLCVCPAGY QAAPHGASCQ DVDECTQSPG LCGRGACKNL PGSFRCVCPA 700
GFRGSACEED VDECAQEPPP CGPGRCDNTA GSFHCACPAG FRSRGPGAPC 750
QDVDECARSP PPCTYGRCEN TEGSFQCVCP MGFQPNTAGS ECEDVDECEN 800
HLACPGQECV NSPGSFQCRT CPSGHHLHRG RCTDVDECSS GAPPCGPHGH 850
CTNTEGSFRC SCAPGYRAPS GRPGPCADVN ECLEGDFCFP HGECLNTDGS 900
FACTCAPGYR PGPRGASCLD VDECSEEDLC QSGICTNTDG SFECICPPGH 950
RAGPDLASCL DVDECRERGP ALCGSQRCEN SPGSYRCVRD CDPGYHAGPE 1000
GTCDDVDECQ EYGPEICGAQ RCENTPGSYR CTPACDPGYQ PTPGGGCQDV 1050
DECRNRSFCG AHAVCQNLPG SFQCLCDQGY EGARDGRHCV DVNECETLQG 1100
VCGAALCENV EGSFLCVCPN SPEEFDPMTG RCVPPRTSAG TFPGSQPQAP 1150
ASPVLPARPP PPPLPRRPST PRQGPVGSGR RECYFDTAAP DACDNILARN 1200
VTWQECCCTV GEGWGSGCRI QQCPGTETAE YQSLCPHGRG YLAPSGDLSL 1250
RRDVDECQLF RDQVCKSGVC VNTAPGYSCY CSNGYYYHTQ RLECIDNDEC 1300
ADEEPACEGG RCVNTVGSYH CTCEPPLVLD GSQRRCVSNE SQSLDDNLGV 1350
CWQEVGADLV CSHPRLDRQA TYTECCCLYG EAWGMDCALC PAQDSDDFEA 1400
LCNVLRPPAY SPPRPGGFGL PYEYGPDLGP PYQGLPYGPE LYPPPALPYD 1450
PYPPPPGPFA RREAPYGAPR FDMPDFEDDG GPYGESEAPA PPGPGTRWPY 1500
RSRDTRRSFP EPEEPPEGGS YAGSLAEPYE ELEAEECGIL DGCTNGRCVR 1550
VPEGFTCRCF DGYRLDMTRM ACVDINECDE AEAASPLCVN ARCLNTDGSF 1600
RCICRPGFAP THQPHHCAPA RPRA 1624
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

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.
VSP_029362Add
BLAST
Alternative sequencei1 – 6868MPRPG…SRCIR → MGDVKALLFVVAARARRLGG AAASESLAVSE in isoform 3.
VSP_029363Add
BLAST
Alternative sequencei1 – 6767Missing in isoform 2.
VSP_029364Add
BLAST
Alternative sequencei68 – 15184RAFCR…GKAPV → MAGGVRLLWVSLLVLLAQLG PQPGLGRLGERLRVRFTPVV CGLRCVHGPTGSRCTPTCAP RNATSVDSGAPGGAAPGGPG FRAF in isoform 2.
VSP_029365Add
BLAST
Alternative sequencei903 – 91917CTCAP…GASCL → MLGGAGGGPGLRTPCPA in isoform 4.
VSP_029366Add
BLAST
Alternative sequencei1007 – 109286Missing in isoform 4.
VSP_029367Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti170 – 1701L → F in CAA73944. 1 Publication
Sequence conflicti346 – 3461T → A in BAC11024. 1 Publication
Sequence conflicti526 – 5261L → F in AAC39879. 1 Publication
Sequence conflicti526 – 5261L → F in AAC39880. 1 Publication
Sequence conflicti686 – 6861A → G in CAA73944. 1 Publication
Sequence conflicti974 – 9741G → R in BAC11024. 1 Publication
Sequence conflicti1139 – 11391A → V in CAA73944. 1 Publication
Sequence conflicti1142 – 11421F → S in CAA73944. 1 Publication
Sequence conflicti1151 – 11511A → V in CAA73944. 1 Publication
Sequence conflicti1165 – 11651P → S in CAA73944. 1 Publication
Sequence conflicti1169 – 11702ST → RK in CAA73944. 1 Publication
Sequence conflicti1173 – 11731Q → K in CAA73944. 1 Publication
Sequence conflicti1180 – 11801R → C in CAA73944. 1 Publication
Sequence conflicti1402 – 14021C → R in BAC11024. 1 Publication
Sequence conflicti1512 – 15121P → S in BAC11024. 1 Publication
Sequence conflicti1546 – 15461G → D in CAA73944. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
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.
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:
EMBL
GenBank
DDBJ
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.
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. 14 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 .
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.
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

ArrayExpressi Q8N2S1.
Bgeei Q8N2S1.
CleanExi HS_LTBP4.
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: September 3, 2014
This is version 110 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

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