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Entry version 156 (31 Jul 2019)
Sequence version 2 (13 Nov 2007)
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Protein

Latent-transforming growth factor beta-binding protein 4

Gene

LTBP4

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

Annotation score:5 out of 5

<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.By similarity

<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

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

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_and_taxonomy_section">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 4
Short name:
LTBP-4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:LTBP4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6717 LTBP4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604710 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N2S1

<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

Urban-Rifkin-Davis syndrome (URDS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by disrupted pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial and dermal development. Clinical features include cutis laxa, mild cardiovascular lesions, respiratory distress with cystic and atelectatic changes in the lungs, and diverticulosis, tortuosity and stenosis at various levels of the intestinal tract. Craniofacial features include microretrognathia, flat midface, receding forehead and wide fontanelles.
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_064153311C → G in URDS. 1 PublicationCorresponds to variant dbSNP:rs267607229Ensembl.1
Duchenne muscular dystrophy (DMD)2 Publications
The gene represented in this entry may act as a disease modifier. DMD patients homozygous for the IAAM haplotype consisting of Ile-194, Ala-787, Ala-820 and Met-1141 remain ambulatory significantly longer than those heterozygous or homozygous for the VTTT haplotype consisting of Val-194, Thr-787, Thr-820 and Thr-1141. This may be due to increased binding to TGFB1, resulting in TGFB1 sequestration in the extracellular matrix and reduced TGFB1 signaling which has been linked to improved muscle function and regeneration.1 Publication
Disease descriptionMost common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment.
Related information in OMIM

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
8425

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
LTBP4

MalaCards human disease database

More...
MalaCardsi
LTBP4
MIMi310200 phenotype
613177 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000090006

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

More...
Orphaneti
221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
98896 Duchenne muscular dystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30480

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LTBP4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
160410003

<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 – 27Sequence analysisAdd BLAST27
<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_000031096428 – 1624Latent-transforming growth factor beta-binding protein 4Add BLAST1597

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 bondi153 ↔ 163PROSITE-ProRule annotation
Disulfide bondi157 ↔ 169PROSITE-ProRule annotation
Disulfide bondi171 ↔ 180PROSITE-ProRule annotation
Disulfide bondi289 ↔ 311PROSITE-ProRule annotation
Disulfide bondi298 ↔ 324PROSITE-ProRule annotation
Disulfide bondi312 ↔ 327PROSITE-ProRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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>Glycosylationi352N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi361 ↔ 372PROSITE-ProRule annotation
Disulfide bondi367 ↔ 381PROSITE-ProRule annotation
Disulfide bondi383 ↔ 396PROSITE-ProRule annotation
Disulfide bondi409 ↔ 431PROSITE-ProRule annotation
Disulfide bondi418 ↔ 444PROSITE-ProRule annotation
Glycosylationi425N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi432 ↔ 447PROSITE-ProRule annotation
Disulfide bondi433 ↔ 459PROSITE-ProRule annotation
Disulfide bondi549 ↔ 561PROSITE-ProRule annotation
Disulfide bondi556 ↔ 570PROSITE-ProRule annotation
Disulfide bondi572 ↔ 585PROSITE-ProRule annotation
Disulfide bondi591 ↔ 603PROSITE-ProRule annotation
Disulfide bondi598 ↔ 612PROSITE-ProRule annotation
Disulfide bondi614 ↔ 627PROSITE-ProRule annotation
Disulfide bondi633 ↔ 645PROSITE-ProRule annotation
Disulfide bondi640 ↔ 654PROSITE-ProRule annotation
Disulfide bondi656 ↔ 669PROSITE-ProRule annotation
Disulfide bondi675 ↔ 687PROSITE-ProRule annotation
Disulfide bondi682 ↔ 696PROSITE-ProRule annotation
Disulfide bondi698 ↔ 707PROSITE-ProRule annotation
Disulfide bondi714 ↔ 726PROSITE-ProRule annotation
Disulfide bondi721 ↔ 735PROSITE-ProRule annotation
Disulfide bondi737 ↔ 750PROSITE-ProRule annotation
Disulfide bondi756 ↔ 768PROSITE-ProRule annotation
Disulfide bondi763 ↔ 777PROSITE-ProRule annotation
Disulfide bondi779 ↔ 792PROSITE-ProRule annotation
Disulfide bondi838 ↔ 851PROSITE-ProRule annotation
Disulfide bondi845 ↔ 860PROSITE-ProRule annotation
Disulfide bondi862 ↔ 876PROSITE-ProRule annotation
Disulfide bondi882 ↔ 894PROSITE-ProRule annotation
Disulfide bondi888 ↔ 903PROSITE-ProRule annotation
Disulfide bondi905 ↔ 918PROSITE-ProRule annotation
Disulfide bondi924 ↔ 935PROSITE-ProRule annotation
Disulfide bondi930 ↔ 944PROSITE-ProRule annotation
Disulfide bondi946 ↔ 959PROSITE-ProRule annotation
Disulfide bondi1053 ↔ 1065PROSITE-ProRule annotation
Glycosylationi1055N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1059 ↔ 1074PROSITE-ProRule annotation
Disulfide bondi1076 ↔ 1089PROSITE-ProRule annotation
Disulfide bondi1183 ↔ 1206PROSITE-ProRule annotation
Disulfide bondi1193 ↔ 1218PROSITE-ProRule annotation
Disulfide bondi1193Interchain (with C-33 in TGFB1); in linked formBy similarity
Glycosylationi1200N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1207 ↔ 1223PROSITE-ProRule annotation
Disulfide bondi1208 ↔ 1235PROSITE-ProRule annotation
Disulfide bondi1218Interchain (with C-33 in TGFB1); in linked formBy similarity
Disulfide bondi1257 ↔ 1270PROSITE-ProRule annotation
Disulfide bondi1265 ↔ 1279PROSITE-ProRule annotation
Disulfide bondi1281 ↔ 1294PROSITE-ProRule annotation
Disulfide bondi1300 ↔ 1312PROSITE-ProRule annotation
Disulfide bondi1307 ↔ 1321PROSITE-ProRule annotation
Disulfide bondi1323 ↔ 1336PROSITE-ProRule annotation
Glycosylationi1339N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1351 ↔ 1375PROSITE-ProRule annotation
Disulfide bondi1361 ↔ 1387PROSITE-ProRule annotation
Disulfide bondi1376 ↔ 1390PROSITE-ProRule annotation
Disulfide bondi1377 ↔ 1402PROSITE-ProRule annotation
Disulfide bondi1537 ↔ 1548PROSITE-ProRule annotation
Disulfide bondi1543 ↔ 1557PROSITE-ProRule annotation
Disulfide bondi1559 ↔ 1572PROSITE-ProRule annotation
Disulfide bondi1578 ↔ 1593PROSITE-ProRule annotation
Disulfide bondi1588 ↔ 1602PROSITE-ProRule annotation
Disulfide bondi1604 ↔ 1617PROSITE-ProRule annotation

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8N2S1

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8N2S1

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

More...
PaxDbi
Q8N2S1

PeptideAtlas

More...
PeptideAtlasi
Q8N2S1

PRoteomics IDEntifications database

More...
PRIDEi
Q8N2S1

ProteomicsDB human proteome resource

More...
ProteomicsDBi
71731 [Q8N2S1-1]
71732 [Q8N2S1-2]
71733 [Q8N2S1-3]
71734 [Q8N2S1-4]

PTM databases

CarbonylDB database of protein carbonylation sites

More...
CarbonylDBi
Q8N2S1

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N2S1

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

More...
PhosphoSitePlusi
Q8N2S1

<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

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

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000090006 Expressed in 203 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8N2S1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N2S1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB015194

<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_section">'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_section">'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 (PubMed:9660815).

Interacts with LTBP1 and TGFB1 (PubMed:9660815).

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
114009, 36 interactors

Protein interaction database and analysis system

More...
IntActi
Q8N2S1, 33 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000311905

<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
Q8N2S1

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

Compositional bias

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

<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
ENOG410KD9E Eukaryota
ENOG410YAPY LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158234

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000293153

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N2S1

KEGG Orthology (KO)

More...
KOi
K08023

Identification of Orthologs from Complete Genome Data

More...
OMAi
WRYRSRD

Database of Orthologous Groups

More...
OrthoDBi
1174178at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N2S1

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
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
PF07645 EGF_CA, 17 hits
PF12661 hEGF, 1 hit
PF00683 TB, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00181 EGF, 20 hits
SM00179 EGF_CA, 19 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57184 SSF57184, 6 hits
SSF57581 SSF57581, 4 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00010 ASX_HYDROXYL, 14 hits
PS00022 EGF_1, 2 hits
PS01186 EGF_2, 12 hits
PS50026 EGF_3, 15 hits
PS01187 EGF_CA, 17 hits
PS51364 TB, 4 hits

<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_length">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 (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 4 <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 4 described isoforms and 14 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8N2S1-1) [UniParc]FASTAAdd to basket
Also known as: LTBP-4L

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
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
<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: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

<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 14 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DH07A0A0C4DH07_HUMAN
Latent-transforming growth factor b...
LTBP4
1,587Annotation 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>
F8WAA0F8WAA0_HUMAN
Latent-transforming growth factor b...
LTBP4
957Annotation 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>
M0QZX0M0QZX0_HUMAN
Latent-transforming growth factor b...
LTBP4
673Annotation 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>
M0R351M0R351_HUMAN
Latent-transforming growth factor b...
LTBP4
224Annotation 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>
A0A087WXJ2A0A087WXJ2_HUMAN
Latent-transforming growth factor b...
LTBP4
145Annotation 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>
M0QYE9M0QYE9_HUMAN
Latent-transforming growth factor b...
LTBP4
303Annotation 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>
A0A087WVV5A0A087WVV5_HUMAN
Latent-transforming growth factor b...
LTBP4
252Annotation 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>
A0A087WXC2A0A087WXC2_HUMAN
Latent-transforming growth factor b...
LTBP4
189Annotation 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>
A0A087WUU1A0A087WUU1_HUMAN
Latent-transforming growth factor b...
LTBP4
182Annotation 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>
A0A087WVR1A0A087WVR1_HUMAN
Latent-transforming growth factor b...
LTBP4
94Annotation 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 are more potential isoformsShow all

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037119194V → I2 PublicationsCorresponds to variant dbSNP:rs2303729EnsemblClinVar.1
Natural variantiVAR_064153311C → G in URDS. 1 PublicationCorresponds to variant dbSNP:rs267607229Ensembl.1
Natural variantiVAR_037120635R → G. Corresponds to variant dbSNP:rs33937741Ensembl.1
Natural variantiVAR_037121679P → A. Corresponds to variant dbSNP:rs34299942Ensembl.1
Natural variantiVAR_037122787T → A2 PublicationsCorresponds to variant dbSNP:rs1131620EnsemblClinVar.1
Natural variantiVAR_037123820T → A2 PublicationsCorresponds to variant dbSNP:rs1051303EnsemblClinVar.1
Natural variantiVAR_0371241141T → M3 PublicationsCorresponds to variant dbSNP:rs10880EnsemblClinVar.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_0293621 – 902Missing in isoform 4. 1 PublicationAdd BLAST902
Alternative sequenceiVSP_0293631 – 68MPRPG…SRCIR → MGDVKALLFVVAARARRLGG AAASESLAVSE in isoform 3. 1 PublicationAdd BLAST68
Alternative sequenceiVSP_0293641 – 67Missing in isoform 2. 1 PublicationAdd BLAST67
Alternative sequenceiVSP_02936568 – 151RAFCR…GKAPV → MAGGVRLLWVSLLVLLAQLG PQPGLGRLGERLRVRFTPVV CGLRCVHGPTGSRCTPTCAP RNATSVDSGAPGGAAPGGPG FRAF in isoform 2. 1 PublicationAdd BLAST84
Alternative sequenceiVSP_029366903 – 919CTCAP…GASCL → MLGGAGGGPGLRTPCPA in isoform 4. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_0293671007 – 1092Missing in isoform 4. 1 PublicationAdd BLAST86

Sequence databases

Select the link destinations:

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
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.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS74368.1 [Q8N2S1-3]
CCDS74369.1 [Q8N2S1-1]
CCDS74370.1 [Q8N2S1-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001036009.1, NM_001042544.1 [Q8N2S1-1]
NP_001036010.1, NM_001042545.1 [Q8N2S1-2]
NP_003564.2, NM_003573.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000308370; ENSP00000311905; ENSG00000090006 [Q8N2S1-1]
ENST00000396819; ENSP00000380031; ENSG00000090006 [Q8N2S1-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
8425

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:8425

UCSC genome browser

More...
UCSCi
uc032hxp.2 human [Q8N2S1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
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

3D structure databases

SMRiQ8N2S1
ModBaseiSearch...

Protein-protein interaction databases

BioGridi114009, 36 interactors
IntActiQ8N2S1, 33 interactors
STRINGi9606.ENSP00000311905

PTM databases

CarbonylDBiQ8N2S1
iPTMnetiQ8N2S1
PhosphoSitePlusiQ8N2S1

Polymorphism and mutation databases

BioMutaiLTBP4
DMDMi160410003

Proteomic databases

jPOSTiQ8N2S1
MaxQBiQ8N2S1
PaxDbiQ8N2S1
PeptideAtlasiQ8N2S1
PRIDEiQ8N2S1
ProteomicsDBi71731 [Q8N2S1-1]
71732 [Q8N2S1-2]
71733 [Q8N2S1-3]
71734 [Q8N2S1-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
8425
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
8425
DisGeNETi8425

GeneCards: human genes, protein and diseases

More...
GeneCardsi
LTBP4
GeneReviewsiLTBP4
HGNCiHGNC:6717 LTBP4
HPAiCAB015194
MalaCardsiLTBP4
MIMi310200 phenotype
604710 gene
613177 phenotype
neXtProtiNX_Q8N2S1
OpenTargetsiENSG00000090006
Orphaneti221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
98896 Duchenne muscular dystrophy
PharmGKBiPA30480

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410KD9E Eukaryota
ENOG410YAPY LUCA
GeneTreeiENSGT00940000158234
HOGENOMiHOG000293153
InParanoidiQ8N2S1
KOiK08023
OMAiWRYRSRD
OrthoDBi1174178at2759
PhylomeDBiQ8N2S1
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
LTBP4 human

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

More...
GenomeRNAii
8425

Protein Ontology

More...
PROi
PR:Q8N2S1

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000090006 Expressed in 203 organ(s), highest expression level in testis
ExpressionAtlasiQ8N2S1 baseline and differential
GenevisibleiQ8N2S1 HS

Family and domain databases

Gene3Di3.90.290.10, 4 hits
InterProiView protein in InterPro
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
PF07645 EGF_CA, 17 hits
PF12661 hEGF, 1 hit
PF00683 TB, 3 hits
SMARTiView protein in SMART
SM00181 EGF, 20 hits
SM00179 EGF_CA, 19 hits
SUPFAMiSSF57184 SSF57184, 6 hits
SSF57581 SSF57581, 4 hits
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 14 hits
PS00022 EGF_1, 2 hits
PS01186 EGF_2, 12 hits
PS50026 EGF_3, 15 hits
PS01187 EGF_CA, 17 hits
PS51364 TB, 4 hits

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 nameiLTBP4_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: Q8N2S1
Secondary accession number(s): O00508, O75412, O75413
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: November 13, 2007
Last modified: July 31, 2019
This is version 156 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 19
    Human chromosome 19: 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

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