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UniProtKB - P10600 (TGFB3_HUMAN)

Entry version 220 (12 Aug 2020)
Sequence version 1 (01 Jul 1989)
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Protein

Transforming growth factor beta-3 proprotein

Gene

TGFB3

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

Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively.By similarity
Required to maintain the Transforming growth factor beta-3 (TGF-beta-3) chain in a latent state during storage in extracellular matrix (By similarity). Associates non-covalently with TGF-beta-3 and regulates its activation via interaction with 'milieu molecules', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-3 (By similarity). Interaction with integrins results in distortion of the Latency-associated peptide chain and subsequent release of the active TGF-beta-3 (By similarity).By similarity
Transforming growth factor beta-3: Multifunctional protein that regulates embryogenesis and cell differentiation and is required in various processes such as secondary palate development (By similarity). Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains remain non-covalently linked rendering TGF-beta-3 inactive during storage in extracellular matrix (By similarity). At the same time, LAP chain interacts with 'milieu molecules', such as LTBP1 and LRRC32/GARP that control activation of TGF-beta-3 and maintain it in a latent state during storage in extracellular milieus (By similarity). TGF-beta-3 is released from LAP by integrins: integrin-binding results in distortion of the LAP chain and subsequent release of the active TGF-beta-3 (By similarity). Once activated following release of LAP, TGF-beta-3 acts by binding to TGF-beta receptors (TGFBR1 and TGFBR2), which transduce signal (By similarity).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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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, Mitogen

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P10600

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-114608, Platelet degranulation
R-HSA-2129379, Molecules associated with elastic fibres
R-HSA-3000178, ECM proteoglycans

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P10600

SIGNOR Signaling Network Open Resource

More...SIGNORi		P10600

<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:
Transforming growth factor beta-3 proprotein
Cleaved into the following 2 chains:
Latency-associated peptide
Short name:
LAP
Transforming growth factor beta-3
Short name:
TGF-beta-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:TGFB3
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000119699.7

Human Gene Nomenclature Database

More...HGNCi		HGNC:11769, TGFB3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		190230, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P10600

<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

Arrhythmogenic right ventricular dysplasia, familial, 1 (ARVD1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.
Related information in OMIM
Loeys-Dietz syndrome 5 (LDS5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Loeys-Dietz syndrome, a syndrome with widespread systemic involvement characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. LDS5 additional variable features include mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity. LDS5 patients do not manifest remarkable aortic or arterial tortuosity, and there is no strong evidence for early aortic dissection.
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_070924409C → Y in LDS5; hypomorphic mutation; results in impaired TGF-beta signaling. 1 PublicationCorresponds to variant dbSNP:rs398122984EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi293Q → R: Abolishes methylation by N6AMT1. 1 Publication1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		7043

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

More...GeneReviewsi		TGFB3

MalaCards human disease database

More...MalaCardsi		TGFB3
MIMi107970, phenotype
615582, phenotype

Open Targets

More...OpenTargetsi		ENSG00000119699

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

More...Orphaneti		293899, Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
293888, Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
293910, Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
91387, Familial thoracic aortic aneurysm and aortic dissection

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36483

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P10600, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3712903

Drug and drug target database

More...DrugBanki		DB03316, 1,4-Dioxane

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TGFB3

Domain mapping of disease mutations (DMDM)

More...DMDMi		135684

<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 – 23Sequence analysisAdd BLAST23
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000003379624 – 300Latency-associated peptideBy similarityAdd BLAST277
ChainiPRO_0000033797301 – 412Transforming growth factor beta-3By similarityAdd BLAST112

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>Glycosylationi74N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi135N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi142N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei293N5-methylglutamine1 Publication1
<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 bondi307 ↔ 3161 Publication
Disulfide bondi315 ↔ 3781 Publication
Disulfide bondi344 ↔ 4091 Publication
Disulfide bondi348 ↔ 4111 Publication
Disulfide bondi377Interchain1 Publication

<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

Transforming growth factor beta-3 proprotein: The precursor proprotein is cleaved in the Golgi apparatus to form Transforming growth factor beta-3 (TGF-beta-3) and Latency-associated peptide (LAP) chains, which remain non-covalently linked, rendering TGF-beta-3 inactive.By similarity
Methylated at Gln-293 by N6AMT1.1 Publication

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein, Methylation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P10600

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P10600

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

More...PaxDbi		P10600

PeptideAtlas

More...PeptideAtlasi		P10600

PRoteomics IDEntifications database

More...PRIDEi		P10600

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		52617 [P10600-1]
74762

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1837, 3 N-Linked glycans (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P10600, 3 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P10600

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

More...PhosphoSitePlusi		P10600

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000119699, Expressed in left coronary artery and 214 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P10600, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P10600, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000119699, Low tissue specificity

<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

Interacts with ASPN (PubMed:8819159). Latency-associated peptide: Homodimer; disulfide-linked. Latency-associated peptide:

Interacts with Transforming growth factor beta-3 (TGF-beta-3) chain; interaction is non-covalent and maintains (TGF-beta-3) in a latent state (By similarity). Latency-associated peptide:

Interacts with LRRC32/GARP; leading to regulate activation of TGF-beta-3 and promote epithelial fusion during palate development (By similarity). Latency-associated peptide:

Interacts (via cell attachment site) with integrins, leading to release of the active TGF-beta-3 (By similarity). Transforming growth factor beta-3: Homodimer; disulfide-linked (PubMed:8819159). Transforming growth factor beta-3:

Interacts with TGF-beta receptors (TGFBR1 and TGFBR2), leading to signal transduction (By similarity).

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112901, 7 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-2544, TGF-beta-3-TGFR complex
CPX-606, TGF-beta-3 complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P10600

Database of interacting proteins

More...DIPi		DIP-5937N

Protein interaction database and analysis system

More...IntActi		P10600, 9 interactors

Molecular INTeraction database

More...MINTi		P10600

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000238682

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P10600, 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

Secondary structure

1412
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		P10600

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P10600

<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

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi261 – 263Cell attachment siteBy similarity3

<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 TGF-beta family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3900, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155747

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_039840_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P10600

KEGG Orthology (KO)

More...KOi		K13377

Identification of Orthologs from Complete Genome Data

More...OMAi		CVTMTLS

Database for complete collections of gene phylogenies

More...PhylomeDBi		P10600

TreeFam database of animal gene trees

More...TreeFami		TF351793

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.10.90.10, 1 hit

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00355

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029034, Cystine-knot_cytokine
IPR001839, TGF-b_C
IPR001111, TGF-b_propeptide
IPR016319, TGF-beta
IPR015615, TGF-beta-rel
IPR015618, TGFB3
IPR017948, TGFb_CS

The PANTHER Classification System

More...PANTHERi		PTHR11848, PTHR11848, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00019, TGF_beta, 1 hit
PF00688, TGFb_propeptide, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF001787, TGF-beta, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01423, TGFBETA
PR01426, TGFBETA3

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00204, TGFB, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF57501, SSF57501, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00250, TGF_BETA_1, 1 hit
PS51362, TGF_BETA_2, 1 hit

<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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: P10600-1) [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
MKMHLQRALV VLALLNFATV SLSLSTCTTL DFGHIKKKRV EAIRGQILSK 
        60         70         80         90        100
LRLTSPPEPT VMTHVPYQVL ALYNSTRELL EEMHGEREEG CTQENTESEY 
       110        120        130        140        150
YAKEIHKFDM IQGLAEHNEL AVCPKGITSK VFRFNVSSVE KNRTNLFRAE 
       160        170        180        190        200
FRVLRVPNPS SKRNEQRIEL FQILRPDEHI AKQRYIGGKN LPTRGTAEWL 
       210        220        230        240        250
SFDVTDTVRE WLLRRESNLG LEISIHCPCH TFQPNGDILE NIHEVMEIKF 
       260        270        280        290        300
KGVDNEDDHG RGDLGRLKKQ KDHHNPHLIL MMIPPHRLDN PGQGGQRKKR 
       310        320        330        340        350
ALDTNYCFRN LEENCCVRPL YIDFRQDLGW KWVHEPKGYY ANFCSGPCPY 
       360        370        380        390        400
LRSADTTHST VLGLYNTLNP EASASPCCVP QDLEPLTILY YVGRTPKVEQ 
       410 
LSNMVVKSCK CS
Length:412
Mass (Da):47,328
Last modified:July 1, 1989 - v1
<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:i3CAD3548D3AEA178
GO
Isoform 2 (identifier: P10600-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     310-412: Missing.

Show »
Length:309
Mass (Da):35,708
Checksum:i30F7A936E9467729
GO

<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 CAA33024 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01631560T → M1 PublicationCorresponds to variant dbSNP:rs4252315EnsemblClinVar.1
Natural variantiVAR_070924409C → Y in LDS5; hypomorphic mutation; results in impaired TGF-beta signaling. 1 PublicationCorresponds to variant dbSNP:rs398122984EnsemblClinVar.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_056285310 – 412Missing in isoform 2. 2 PublicationsAdd BLAST103

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
J03241 mRNA Translation: AAA61161.1
X14149 mRNA Translation: CAA32362.1
X14885 X14891 Genomic DNA Translation: CAA33024.1 Different initiation.
AY140241 Genomic DNA Translation: AAM96819.1
AY208161 Genomic DNA Translation: AAO13495.1
BT007287 mRNA Translation: AAP35951.1
AF107885 Genomic DNA Translation: AAC79727.1
BC018503 mRNA Translation: AAH18503.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS86415.1 [P10600-2]
CCDS9846.1 [P10600-1]

Protein sequence database of the Protein Information Resource

More...PIRi		A36169

NCBI Reference Sequences

More...RefSeqi		NP_001316867.1, NM_001329938.1 [P10600-2]
NP_001316868.1, NM_001329939.1 [P10600-1]
NP_003230.1, NM_003239.4 [P10600-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000238682; ENSP00000238682; ENSG00000119699 [P10600-1]
ENST00000556285; ENSP00000451110; ENSG00000119699 [P10600-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		7043

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:7043

UCSC genome browser

More...UCSCi		uc001xsc.3, human [P10600-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs
SeattleSNPs
Wikipedia

TGF beta-3 entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J03241 mRNA Translation: AAA61161.1
X14149 mRNA Translation: CAA32362.1
X14885 X14891 Genomic DNA Translation: CAA33024.1 Different initiation.
AY140241 Genomic DNA Translation: AAM96819.1
AY208161 Genomic DNA Translation: AAO13495.1
BT007287 mRNA Translation: AAP35951.1
AF107885 Genomic DNA Translation: AAC79727.1
BC018503 mRNA Translation: AAH18503.1
CCDSiCCDS86415.1 [P10600-2]
CCDS9846.1 [P10600-1]
PIRiA36169
RefSeqiNP_001316867.1, NM_001329938.1 [P10600-2]
NP_001316868.1, NM_001329939.1 [P10600-1]
NP_003230.1, NM_003239.4 [P10600-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1KTZX-ray2.15A301-412[»]
1TGJX-ray2.00A301-412[»]
1TGKX-ray3.30A301-412[»]
2PJYX-ray3.00A301-412[»]
3EO1X-ray3.10C/F/I/L301-412[»]
4UM9X-ray2.50E/F259-269[»]
SMRiP10600
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi112901, 7 interactors
ComplexPortaliCPX-2544, TGF-beta-3-TGFR complex
CPX-606, TGF-beta-3 complex
CORUMiP10600
DIPiDIP-5937N
IntActiP10600, 9 interactors
MINTiP10600
STRINGi9606.ENSP00000238682

Chemistry databases

ChEMBLiCHEMBL3712903
DrugBankiDB03316, 1,4-Dioxane

PTM databases

GlyConnecti1837, 3 N-Linked glycans (1 site)
GlyGeniP10600, 3 sites
iPTMnetiP10600
PhosphoSitePlusiP10600

Polymorphism and mutation databases

BioMutaiTGFB3
DMDMi135684

Proteomic databases

jPOSTiP10600
MassIVEiP10600
PaxDbiP10600
PeptideAtlasiP10600
PRIDEiP10600
ProteomicsDBi52617 [P10600-1]
74762

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		P10600, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

More...Antibodypediai		4331, 459 antibodies

The DNASU plasmid repository

More...DNASUi		7043

Genome annotation databases

EnsembliENST00000238682; ENSP00000238682; ENSG00000119699 [P10600-1]
ENST00000556285; ENSP00000451110; ENSG00000119699 [P10600-2]
GeneIDi7043
KEGGihsa:7043
UCSCiuc001xsc.3, human [P10600-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		7043
DisGeNETi7043
EuPathDBiHostDB:ENSG00000119699.7

GeneCards: human genes, protein and diseases

More...GeneCardsi		TGFB3
GeneReviewsiTGFB3
HGNCiHGNC:11769, TGFB3
HPAiENSG00000119699, Low tissue specificity
MalaCardsiTGFB3
MIMi107970, phenotype
190230, gene
615582, phenotype
neXtProtiNX_P10600
OpenTargetsiENSG00000119699
Orphaneti293899, Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
293888, Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
293910, Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
91387, Familial thoracic aortic aneurysm and aortic dissection
PharmGKBiPA36483

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3900, Eukaryota
GeneTreeiENSGT00940000155747
HOGENOMiCLU_039840_0_0_1
InParanoidiP10600
KOiK13377
OMAiCVTMTLS
PhylomeDBiP10600
TreeFamiTF351793

Enzyme and pathway databases

PathwayCommonsiP10600
ReactomeiR-HSA-114608, Platelet degranulation
R-HSA-2129379, Molecules associated with elastic fibres
R-HSA-3000178, ECM proteoglycans
SignaLinkiP10600
SIGNORiP10600

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		7043, 4 hits in 882 CRISPR screens

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

More...ChiTaRSi		TGFB3, human
EvolutionaryTraceiP10600

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Transforming_growth_factor,_beta_3

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

More...GenomeRNAii		7043
PharosiP10600, Tbio

Protein Ontology

More...PROi		PR:P10600
RNActiP10600, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000119699, Expressed in left coronary artery and 214 other tissues
ExpressionAtlasiP10600, baseline and differential
GenevisibleiP10600, HS

Family and domain databases

Gene3Di2.10.90.10, 1 hit
IDEALiIID00355
InterProiView protein in InterPro
IPR029034, Cystine-knot_cytokine
IPR001839, TGF-b_C
IPR001111, TGF-b_propeptide
IPR016319, TGF-beta
IPR015615, TGF-beta-rel
IPR015618, TGFB3
IPR017948, TGFb_CS
PANTHERiPTHR11848, PTHR11848, 1 hit
PfamiView protein in Pfam
PF00019, TGF_beta, 1 hit
PF00688, TGFb_propeptide, 1 hit
PIRSFiPIRSF001787, TGF-beta, 1 hit
PRINTSiPR01423, TGFBETA
PR01426, TGFBETA3
SMARTiView protein in SMART
SM00204, TGFB, 1 hit
SUPFAMiSSF57501, SSF57501, 1 hit
PROSITEiView protein in PROSITE
PS00250, TGF_BETA_1, 1 hit
PS51362, TGF_BETA_2, 1 hit

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 nameiTGFB3_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: P10600
Secondary accession number(s): Q8WV88
<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: July 1, 1989
Last sequence update: July 1, 1989
Last modified: August 12, 2020
This is version 220 of the entry and version 1 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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