Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 172 (26 Feb 2020)
Sequence version 4 (17 Oct 2006)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Latent-transforming growth factor beta-binding protein 3

Gene

LTBP3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta.2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGrowth factor binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2129379 Molecules associated with elastic fibres

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Latent-transforming growth factor beta-binding protein 3
Short name:
LTBP-3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LTBP3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6716 LTBP3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602090 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NS15

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Dental anomalies and short stature (DASS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by hypoplastic amelogenesis imperfecta, significant short stature, brachyolmia-like anomalies including platyspondyly with short pedicles, narrow intervertebral and interpedicular distances, rectangular-shaped vertebrae with posterior scalloping and herniation of the nuclei, and broad femoral necks. Dental anomalies include widely spaced, small, yellow teeth, oligodontia, and severely reduced to absent enamel.
Related information in OMIM
Geleophysic dysplasia 3 (GPHYSD3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of geleophysic dysplasia, a rare skeletal disease characterized by severe short stature, short hands and feet, and joint limitations. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include skin thickening, progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues. GPHYSD3 inheritance is autosomal dominant.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080565696S → C in GPHYSD3; unknown pathological significance; no effect on TGF-beta secretion. 1 PublicationCorresponds to variant dbSNP:rs1554974135EnsemblClinVar.1

Keywords - Diseasei

Amelogenesis imperfecta, Disease mutation, Dwarfism

Organism-specific databases

DisGeNET

More...
DisGeNETi
4054

MalaCards human disease database

More...
MalaCardsi
LTBP3
MIMi601216 phenotype
617809 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000168056

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
969 Acromicric dysplasia
2899 Brachyolmia-amelogenesis imperfecta syndrome
2623 Geleophysic dysplasia
2227 NON RARE IN EUROPE: Hypodontia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30479

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NS15 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LTBP3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
116242623

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 43Sequence analysisAdd BLAST43
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000764644 – 1303Latent-transforming growth factor beta-binding protein 3Add BLAST1260

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi89N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi113 ↔ 123PROSITE-ProRule annotation
Disulfide bondi117 ↔ 129PROSITE-ProRule annotation
Disulfide bondi131 ↔ 140PROSITE-ProRule annotation
Disulfide bondi279 ↔ 303PROSITE-ProRule annotation
Disulfide bondi289 ↔ 316PROSITE-ProRule annotation
Disulfide bondi304 ↔ 319PROSITE-ProRule annotation
Glycosylationi349N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi359 ↔ 370PROSITE-ProRule annotation
Disulfide bondi365 ↔ 379PROSITE-ProRule annotation
Disulfide bondi381 ↔ 394PROSITE-ProRule annotation
Disulfide bondi405 ↔ 428PROSITE-ProRule annotation
Disulfide bondi415 ↔ 440PROSITE-ProRule annotation
Disulfide bondi429 ↔ 443PROSITE-ProRule annotation
Disulfide bondi430 ↔ 455PROSITE-ProRule annotation
Disulfide bondi578 ↔ 590PROSITE-ProRule annotation
Disulfide bondi585 ↔ 599PROSITE-ProRule annotation
Disulfide bondi601 ↔ 614PROSITE-ProRule annotation
Disulfide bondi620 ↔ 632PROSITE-ProRule annotation
Disulfide bondi625 ↔ 641PROSITE-ProRule annotation
Disulfide bondi664 ↔ 676PROSITE-ProRule annotation
Disulfide bondi670 ↔ 685PROSITE-ProRule annotation
Disulfide bondi687 ↔ 701PROSITE-ProRule annotation
Disulfide bondi748 ↔ 759PROSITE-ProRule annotation
Disulfide bondi754 ↔ 768PROSITE-ProRule annotation
Disulfide bondi770 ↔ 783PROSITE-ProRule annotation
Disulfide bondi789 ↔ 800PROSITE-ProRule annotation
Disulfide bondi795 ↔ 809PROSITE-ProRule annotation
Disulfide bondi811 ↔ 824PROSITE-ProRule annotation
Disulfide bondi830 ↔ 841PROSITE-ProRule annotation
Disulfide bondi836 ↔ 850PROSITE-ProRule annotation
Glycosylationi845N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi852 ↔ 864PROSITE-ProRule annotation
Disulfide bondi870 ↔ 883PROSITE-ProRule annotation
Disulfide bondi877 ↔ 892PROSITE-ProRule annotation
Disulfide bondi894 ↔ 907PROSITE-ProRule annotation
Disulfide bondi919 ↔ 942PROSITE-ProRule annotation
Disulfide bondi929 ↔ 954PROSITE-ProRule annotation
Disulfide bondi929Interchain (with C-33 in TGFB1); in linked formBy similarity
Glycosylationi936N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi943 ↔ 959PROSITE-ProRule annotation
Disulfide bondi944 ↔ 971PROSITE-ProRule annotation
Disulfide bondi954Interchain (with C-33 in TGFB1); in linked formBy similarity
Disulfide bondi997 ↔ 1010PROSITE-ProRule annotation
Disulfide bondi1005 ↔ 1019PROSITE-ProRule annotation
Disulfide bondi1021 ↔ 1034PROSITE-ProRule annotation
Disulfide bondi1040 ↔ 1051PROSITE-ProRule annotation
Disulfide bondi1046 ↔ 1060PROSITE-ProRule annotation
Disulfide bondi1062 ↔ 1075PROSITE-ProRule annotation
Disulfide bondi1086 ↔ 1097PROSITE-ProRule annotation
Disulfide bondi1092 ↔ 1106PROSITE-ProRule annotation
Disulfide bondi1108 ↔ 1121PROSITE-ProRule annotation
Disulfide bondi1138 ↔ 1162PROSITE-ProRule annotation
Disulfide bondi1148 ↔ 1174PROSITE-ProRule annotation
Disulfide bondi1163 ↔ 1177PROSITE-ProRule annotation
Disulfide bondi1164 ↔ 1186PROSITE-ProRule annotation
Disulfide bondi1258 ↔ 1273PROSITE-ProRule annotation
Disulfide bondi1268 ↔ 1282PROSITE-ProRule annotation
Glycosylationi1275N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Contains hydroxylated asparagine residues.By similarity
Two intrachain disulfide bonds from the TB3 domain are rearranged upon TGFB1 binding, and form interchain bonds with TGFB1 propeptide, anchoring it to the extracellular matrix.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NS15

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NS15

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NS15

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NS15

PeptideAtlas

More...
PeptideAtlasi
Q9NS15

PRoteomics IDEntifications database

More...
PRIDEi
Q9NS15

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
82461 [Q9NS15-1]
82462 [Q9NS15-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NS15

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NS15

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Isoform 2: Expressed prominently in heart, skeletal muscle, prostate, testis, small intestine and ovary (PubMed:12154076). Isoform 1: Strongly expressed in pancreas and liver (PubMed:12154076).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000168056 Expressed in descending thoracic aorta and 223 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NS15 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NS15 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA073170

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms part of the large latent transforming growth factor beta precursor complex; removal is essential for activation of complex.

1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110232, 9 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NS15, 8 interactors

Molecular INTeraction database

More...
MINTi
Q9NS15

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000301873

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9NS15 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9NS15

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini109 – 141EGF-like 1PROSITE-ProRule annotationAdd BLAST33
Domaini277 – 331TB 1PROSITE-ProRule annotationAdd BLAST55
Domaini355 – 395EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini403 – 455TB 2PROSITE-ProRule annotationAdd BLAST53
Domaini574 – 615EGF-like 3PROSITE-ProRule annotationAdd BLAST42
Domaini616 – 659EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST44
Domaini660 – 702EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST43
Domaini744 – 784EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini785 – 825EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini826 – 865EGF-like 8; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini866 – 908EGF-like 9; calcium-bindingPROSITE-ProRule annotationAdd BLAST43
Domaini917 – 971TB 3PROSITE-ProRule annotationAdd BLAST55
Domaini993 – 1035EGF-like 10; calcium-bindingPROSITE-ProRule annotationAdd BLAST43
Domaini1036 – 1076EGF-like 11; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini1082 – 1122EGF-like 12; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini1136 – 1186TB 4PROSITE-ProRule annotationAdd BLAST51
Domaini1254 – 1298EGF-like 13; calcium-bindingPROSITE-ProRule annotationAdd BLAST45

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi3 – 167Gly-richAdd BLAST165
Compositional biasi578 – 894Cys-richAdd BLAST317

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the LTBP family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IR6V Eukaryota
ENOG4110G15 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160285

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NS15

KEGG Orthology (KO)

More...
KOi
K08023

Identification of Orthologs from Complete Genome Data

More...
OMAi
CDAEPCG

Database of Orthologous Groups

More...
OrthoDBi
1174178at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NS15

TreeFam database of animal gene trees

More...
TreeFami
TF317514

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.90.290.10, 4 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026823 cEGF
IPR001881 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_cys_sf
IPR017878 TB_dom
IPR036773 TB_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12662 cEGF, 2 hits
PF07645 EGF_CA, 9 hits
PF12661 hEGF, 1 hit
PF00683 TB, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00181 EGF, 15 hits
SM00179 EGF_CA, 14 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57184 SSF57184, 4 hits
SSF57581 SSF57581, 4 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00010 ASX_HYDROXYL, 11 hits
PS00022 EGF_1, 1 hit
PS01186 EGF_2, 8 hits
PS50026 EGF_3, 13 hits
PS01187 EGF_CA, 12 hits
PS51364 TB, 4 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NS15-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MPGPRGAAGG LAPEMRGAGA AGLLALLLLL LLLLLGLGGR VEGGPAGERG
60 70 80 90 100
AGGGGALARE RFKVVFAPVI CKRTCLKGQC RDSCQQGSNM TLIGENGHST
110 120 130 140 150
DTLTGSGFRV VVCPLPCMNG GQCSSRNQCL CPPDFTGRFC QVPAGGAGGG
160 170 180 190 200
TGGSGPGLSR TGALSTGALP PLAPEGDSVA SKHAIYAVQV IADPPGPGEG
210 220 230 240 250
PPAQHAAFLV PLGPGQISAE VQAPPPVVNV RVHHPPEASV QVHRIESSNA
260 270 280 290 300
ESAAPSQHLL PHPKPSHPRP PTQKPLGRCF QDTLPKQPCG SNPLPGLTKQ
310 320 330 340 350
EDCCGSIGTA WGQSKCHKCP QLQYTGVQKP GPVRGEVGAD CPQGYKRLNS
360 370 380 390 400
THCQDINECA MPGVCRHGDC LNNPGSYRCV CPPGHSLGPS RTQCIADKPE
410 420 430 440 450
EKSLCFRLVS PEHQCQHPLT TRLTRQLCCC SVGKAWGARC QRCPTDGTAA
460 470 480 490 500
FKEICPAGKG YHILTSHQTL TIQGESDFSL FLHPDGPPKP QQLPESPSQA
510 520 530 540 550
PPPEDTEEER GVTTDSPVSE ERSVQQSHPT ATTTPARPYP ELISRPSPPT
560 570 580 590 600
MRWFLPDLPP SRSAVEIAPT QVTETDECRL NQNICGHGEC VPGPPDYSCH
610 620 630 640 650
CNPGYRSHPQ HRYCVDVNEC EAEPCGPGRG ICMNTGGSYN CHCNRGYRLH
660 670 680 690 700
VGAGGRSCVD LNECAKPHLC GDGGFCINFP GHYKCNCYPG YRLKASRPPV
710 720 730 740 750
CEDIDECRDP SSCPDGKCEN KPGSFKCIAC QPGYRSQGGG ACRDVNECAE
760 770 780 790 800
GSPCSPGWCE NLPGSFRCTC AQGYAPAPDG RSCLDVDECE AGDVCDNGIC
810 820 830 840 850
SNTPGSFQCQ CLSGYHLSRD RSHCEDIDEC DFPAACIGGD CINTNGSYRC
860 870 880 890 900
LCPQGHRLVG GRKCQDIDEC SQDPSLCLPH GACKNLQGSY VCVCDEGFTP
910 920 930 940 950
TQDQHGCEEV EQPHHKKECY LNFDDTVFCD SVLATNVTQQ ECCCSLGAGW
960 970 980 990 1000
GDHCEIYPCP VYSSAEFHSL CPDGKGYTQD NNIVNYGIPA HRDIDECMLF
1010 1020 1030 1040 1050
GSEICKEGKC VNTQPGYECY CKQGFYYDGN LLECVDVDEC LDESNCRNGV
1060 1070 1080 1090 1100
CENTRGGYRC ACTPPAEYSP AQRQCLSPEE MDVDECQDPA ACRPGRCVNL
1110 1120 1130 1140 1150
PGSYRCECRP PWVPGPSGRD CQLPESPAER APERRDVCWS QRGEDGMCAG
1160 1170 1180 1190 1200
PLAGPALTFD DCCCRQGRGW GAQCRPCPPR GAGSHCPTSQ SESNSFWDTS
1210 1220 1230 1240 1250
PLLLGKPPRD EDSSEEDSDE CRCVSGRCVP RPGGAVCECP GGFQLDASRA
1260 1270 1280 1290 1300
RCVDIDECRE LNQRGLLCKS ERCVNTSGSF RCVCKAGFAR SRPHGACVPQ

RRR
Length:1,303
Mass (Da):139,359
Last modified:October 17, 2006 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3BC6B1EE19198414
GO
Isoform 2 (identifier: Q9NS15-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1082-1128: Missing.

Show »
Length:1,256
Mass (Da):134,292
Checksum:i1D930E5D208601E2
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PKW1E9PKW1_HUMAN
Latent-transforming growth factor b...
LTBP3
1,136Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YC99H0YC99_HUMAN
Latent-transforming growth factor b...
LTBP3
907Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PJR2E9PJR2_HUMAN
Latent-transforming growth factor b...
LTBP3
733Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PQR0E9PQR0_HUMAN
Latent-transforming growth factor b...
LTBP3
259Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PR84E9PR84_HUMAN
Latent-transforming growth factor b...
LTBP3
306Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YCQ2H0YCQ2_HUMAN
Latent-transforming growth factor b...
LTBP3
140Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PPT7E9PPT7_HUMAN
Latent-transforming growth factor b...
LTBP3
221Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PR75E9PR75_HUMAN
Latent-transforming growth factor b...
LTBP3
123Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YE75H0YE75_HUMAN
Latent-transforming growth factor b...
LTBP3
69Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PRF2E9PRF2_HUMAN
Latent-transforming growth factor b...
LTBP3
116Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There is more potential isoformShow all

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB15767 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti35Missing in BAB15767 (Ref. 2) Curated1
Sequence conflicti477D → H in AAB64201 (PubMed:9620332).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080565696S → C in GPHYSD3; unknown pathological significance; no effect on TGF-beta secretion. 1 PublicationCorresponds to variant dbSNP:rs1554974135EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0092411082 – 1128Missing in isoform 2. 1 PublicationAdd BLAST47

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF135960 mRNA Translation: AAF62352.3
AK024477 mRNA Translation: BAB15767.1 Different initiation.
AF011407 mRNA Translation: AAB64201.1
BC008761 mRNA Translation: AAH08761.2
AL117551 mRNA Translation: CAB55988.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS44647.1 [Q9NS15-1]
CCDS8103.1 [Q9NS15-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
T17298

NCBI Reference Sequences

More...
RefSeqi
NP_001123616.1, NM_001130144.2 [Q9NS15-1]
NP_001157738.1, NM_001164266.1
NP_066548.2, NM_021070.4 [Q9NS15-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000301873; ENSP00000301873; ENSG00000168056 [Q9NS15-1]
ENST00000322147; ENSP00000326647; ENSG00000168056 [Q9NS15-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
4054

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4054

UCSC genome browser

More...
UCSCi
uc001oei.4 human [Q9NS15-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF135960 mRNA Translation: AAF62352.3
AK024477 mRNA Translation: BAB15767.1 Different initiation.
AF011407 mRNA Translation: AAB64201.1
BC008761 mRNA Translation: AAH08761.2
AL117551 mRNA Translation: CAB55988.1
CCDSiCCDS44647.1 [Q9NS15-1]
CCDS8103.1 [Q9NS15-2]
PIRiT17298
RefSeqiNP_001123616.1, NM_001130144.2 [Q9NS15-1]
NP_001157738.1, NM_001164266.1
NP_066548.2, NM_021070.4 [Q9NS15-2]

3D structure databases

SMRiQ9NS15
ModBaseiSearch...

Protein-protein interaction databases

BioGridi110232, 9 interactors
IntActiQ9NS15, 8 interactors
MINTiQ9NS15
STRINGi9606.ENSP00000301873

PTM databases

iPTMnetiQ9NS15
PhosphoSitePlusiQ9NS15

Polymorphism and mutation databases

BioMutaiLTBP3
DMDMi116242623

Proteomic databases

jPOSTiQ9NS15
MassIVEiQ9NS15
MaxQBiQ9NS15
PaxDbiQ9NS15
PeptideAtlasiQ9NS15
PRIDEiQ9NS15
ProteomicsDBi82461 [Q9NS15-1]
82462 [Q9NS15-2]

Genome annotation databases

EnsembliENST00000301873; ENSP00000301873; ENSG00000168056 [Q9NS15-1]
ENST00000322147; ENSP00000326647; ENSG00000168056 [Q9NS15-2]
GeneIDi4054
KEGGihsa:4054
UCSCiuc001oei.4 human [Q9NS15-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4054
DisGeNETi4054

GeneCards: human genes, protein and diseases

More...
GeneCardsi
LTBP3
HGNCiHGNC:6716 LTBP3
HPAiHPA073170
MalaCardsiLTBP3
MIMi601216 phenotype
602090 gene
617809 phenotype
neXtProtiNX_Q9NS15
OpenTargetsiENSG00000168056
Orphaneti969 Acromicric dysplasia
2899 Brachyolmia-amelogenesis imperfecta syndrome
2623 Geleophysic dysplasia
2227 NON RARE IN EUROPE: Hypodontia
PharmGKBiPA30479

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IR6V Eukaryota
ENOG4110G15 LUCA
GeneTreeiENSGT00940000160285
InParanoidiQ9NS15
KOiK08023
OMAiCDAEPCG
OrthoDBi1174178at2759
PhylomeDBiQ9NS15
TreeFamiTF317514

Enzyme and pathway databases

ReactomeiR-HSA-2129379 Molecules associated with elastic fibres

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
LTBP3 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
LTBP3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
4054
PharosiQ9NS15 Tbio

Protein Ontology

More...
PROi
PR:Q9NS15
RNActiQ9NS15 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000168056 Expressed in descending thoracic aorta and 223 other tissues
ExpressionAtlasiQ9NS15 baseline and differential
GenevisibleiQ9NS15 HS

Family and domain databases

Gene3Di3.90.290.10, 4 hits
InterProiView protein in InterPro
IPR026823 cEGF
IPR001881 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_cys_sf
IPR017878 TB_dom
IPR036773 TB_dom_sf
PfamiView protein in Pfam
PF12662 cEGF, 2 hits
PF07645 EGF_CA, 9 hits
PF12661 hEGF, 1 hit
PF00683 TB, 4 hits
SMARTiView protein in SMART
SM00181 EGF, 15 hits
SM00179 EGF_CA, 14 hits
SUPFAMiSSF57184 SSF57184, 4 hits
SSF57581 SSF57581, 4 hits
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 11 hits
PS00022 EGF_1, 1 hit
PS01186 EGF_2, 8 hits
PS50026 EGF_3, 13 hits
PS01187 EGF_CA, 12 hits
PS51364 TB, 4 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiLTBP3_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NS15
Secondary accession number(s): O15107
, Q96HB9, Q9H7K2, Q9UFN4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: October 17, 2006
Last modified: February 26, 2020
This is version 172 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again