TWSG1

Functionⁱ

May be involved in dorsoventral axis formation. Seems to antagonize BMP signaling by forming ternary complexes with CHRD and BMPs, thereby preventing BMPs from binding to their receptors. In addition to the anti-BMP function, also has pro-BMP activity, partly mediated by cleavage and degradation of CHRD, which releases BMPs from ternary complexes. May be an important modulator of BMP-regulated cartilage development and chondrocyte differentiation. May play a role in thymocyte development (By similarity).By similarity

GO - Molecular functionⁱ

transforming growth factor beta binding
Source: BHF-UCL
Inferred from direct assayⁱ
- 17164348

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

BMP signaling pathway Source: Ensembl
camera-type eye development Source: Ensembl
cell differentiation Source: Ensembl
forebrain development Source: Ensembl
hemopoiesis Source: Ensembl
mesoderm formation Source: Ensembl
negative regulation of BMP signaling pathway Source: Ensembl
negative regulation of CD4-positive, alpha-beta T cell activation
Source: BHF-UCL
Inferred from direct assayⁱ
- 17164348
negative regulation of CD4-positive, alpha-beta T cell proliferation
Source: BHF-UCL
Inferred from direct assayⁱ
- 17164348
negative regulation of cytokine production
Source: BHF-UCL
Inferred from direct assayⁱ
- 17164348
negative regulation of osteoblast differentiation Source: Ensembl
ossification Source: Ensembl
positive regulation of BMP signaling pathway Source: Ensembl
positive regulation of pathway-restricted SMAD protein phosphorylation
Source: BHF-UCL
Inferred from direct assayⁱ
- 17164348
salivary gland morphogenesis Source: Ensembl
transforming growth factor beta receptor signaling pathway
Source: BHF-UCL
Inferred from direct assayⁱ
- 17164348

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Developmental protein

Molecular function

Developmental protein

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Twisted gastrulation protein homolog 1
Gene namesⁱ	Name:TWSG1 Synonyms:TSG ORF Names:PSEC0250
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 18

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000128791.11
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:12429 TWSG1
MIMⁱ	605049 gene
neXtProtⁱ	NX_Q9GZX9

Keywords - Cellular componentⁱ

Secreted

Pathology & Biotechⁱ

Organism-specific databases

DisGeNET More...DisGeNETⁱ	57045
Open Targets More...OpenTargetsⁱ	ENSG00000128791
PharmGKBⁱ	PA37089

Polymorphism and mutation databases

BioMutaⁱ	TWSG1
DMDMⁱ	74733506

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Signal peptideⁱ	1 – 25	Sequence analysisAdd BLAST		25
ChainⁱPRO_0000278808	26 – 223	Twisted gastrulation protein homolog 1Add BLAST		198

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Glycosylationⁱ	52	N-linked (GlcNAc...) asparagineSequence analysis		1
Glycosylationⁱ	81	N-linked (GlcNAc...) asparagineSequence analysis		1

Keywords - PTMⁱ

Glycoprotein

Proteomic databases

EPDⁱ	Q9GZX9
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9GZX9
PaxDbⁱ	Q9GZX9
PeptideAtlas More...PeptideAtlasⁱ	Q9GZX9
PRIDEⁱ	Q9GZX9
ProteomicsDBⁱ	80169 80170 [Q9GZX9-2]

PTM databases

iPTMnetⁱ	Q9GZX9
PhosphoSitePlusⁱ	Q9GZX9

Expressionⁱ

Developmental stageⁱ

Expressed in brain throughout development.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000128791
CleanExⁱ	HS_TWSG1
ExpressionAtlasⁱ	Q9GZX9 baseline and differential
Genevisibleⁱ	Q9GZX9 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA014898

HPAⁱ

HPA014898

Interactionⁱ

Subunit structureⁱ

Interacts with CHRD and BMP4. This interaction enhances CHRD/BMP4 complex formation. Interacts with BMP7 (By similarity).By similarity

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
SGTA	O43765	3	EBI-10304067,EBI-347996

With

Entry

#Exp.

IntAct

Notes

SGTA

O43765

3

EBI-10304067,EBI-347996

GO - Molecular functionⁱ

transforming growth factor beta binding
Source: BHF-UCL
Inferred from direct assayⁱ
- 17164348

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	121338, 6 interactors
CORUMⁱ	Q9GZX9
IntActⁱ	Q9GZX9, 4 interactors
STRINGⁱ	9606.ENSP00000262120

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q9GZX9
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	26 – 77	Cys-richAdd BLAST		52

Domainⁱ

The N-terminal domain is sufficient to interact with BMP4.By similarity

Sequence similaritiesⁱ

Belongs to the twisted gastrulation protein family.Curated

Keywords - Domainⁱ

Signal

Phylogenomic databases

eggNOGⁱ	ENOG410IF1M Eukaryota ENOG4110NGY LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000007058
HOGENOMⁱ	HOG000044674
HOVERGENⁱ	HBG055753
InParanoidⁱ	Q9GZX9
OMAⁱ	CTCCKEC
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0J76
PhylomeDBⁱ	Q9GZX9
TreeFamⁱ	TF323922

Family and domain databases

InterProⁱ	View protein in InterPro IPR006761 Tsg
PANTHERⁱ	PTHR12312 PTHR12312, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF04668 Tsg, 1 hit

Sequences (2)ⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket Added to basket

Isoform 1 (identifier: Q9GZX9-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MKLHYVAVLT LAILMFLTWL PESLSCNKAL CASDVSKCLI QELCQCRPGE 
        60         70         80         90        100
GNCSCCKECM LCLGALWDEC CDCVGMCNPR NYSDTPPTSK STVEELHEPI 
       110        120        130        140        150
PSLFRALTEG DTQLNWNIVS FPVAEELSHH ENLVSFLETV NQPHHQNVSV 
       160        170        180        190        200
PSNNVHAPYS SDKEHMCTVV YFDDCMSIHQ CKISCESMGA SKYRWFHNAC 
       210        220 
CECIGPECID YGSKTVKCMN CMF

Length:223

Mass (Da):25,017

Last modified:March 1, 2001 - v1

Checksum:ⁱ34AEB1A836871772

GO

Isoform 2 (identifier: Q9GZX9-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
75-75: G → D
76-223: Missing.

« Hide

        10         20         30         40         50
MKLHYVAVLT LAILMFLTWL PESLSCNKAL CASDVSKCLI QELCQCRPGE 
        60         70 
GNCSCCKECM LCLGALWDEC CDCVD

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »

Length:75

Mass (Da):8,284

Checksum:ⁱ7734E50FBC9CE962

GO

Sequence cautionⁱ

The sequence BAB55246 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	35	V → E in BAC11693 (PubMed:16303743).Curated		1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_042538	75	G → D in isoform 2. 1 Publication		1
Alternative sequenceⁱVSP_042539	76 – 223	Missing in isoform 2. 1 PublicationAdd BLAST		148

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF196834 mRNA Translation: AAG43468.1 AJ297391 mRNA Translation: CAC05581.1 AF294628 mRNA Translation: AAG10076.1 AK027629 mRNA Translation: BAB55246.1 Sequence problems. AK075550 mRNA Translation: BAC11693.1 AK315751 mRNA Translation: BAG38105.1 AP001033 Genomic DNA No translation available. CH471113 Genomic DNA Translation: EAX01606.1 CH471113 Genomic DNA Translation: EAX01607.1 BC020490 mRNA Translation: AAH20490.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS11844.1 [Q9GZX9-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_065699.1, NM_020648.5 [Q9GZX9-1]
UniGeneⁱ	Hs.514685

Genome annotation databases

Ensemblⁱ	ENST00000262120; ENSP00000262120; ENSG00000128791 [Q9GZX9-1] ENST00000583147; ENSP00000463331; ENSG00000128791 [Q9GZX9-2]
GeneIDⁱ	57045
KEGGⁱ	hsa:57045
UCSC genome browser More...UCSCⁱ	uc002knz.3 human [Q9GZX9-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length
Q9GZX9	Uncharacterized protein		Limosa lapponica baueri		273
UPI0005D08950		Aquila chrysaetos canadensis		227
UPI000670E6B9		Anser cygnoides domesticus		225
UPI000B3DBF67		NUMME		224
Uncharacterized protein		CALSU		224
+144
Q9GZX9-2	TWSG1 isoform 2		PONAB		75
TWSG1 isoform 2		PANTR		75

Protein	Similar proteins		Species	Score	Length
Q9GZX9	Uncharacterized protein		Limosa lapponica baueri		273
UPI0005D08950		Aquila chrysaetos canadensis		227
UPI000670E6B9		Anser cygnoides domesticus		225
UPI000B3DBF67		NUMME		224
Uncharacterized protein		CALSU		224
+217
Q9GZX9-2	TWSG1 isoform 2		PONAB		75
TWSG1 isoform 2		PANTR		75

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF196834 mRNA Translation: AAG43468.1 AJ297391 mRNA Translation: CAC05581.1 AF294628 mRNA Translation: AAG10076.1 AK027629 mRNA Translation: BAB55246.1 Sequence problems. AK075550 mRNA Translation: BAC11693.1 AK315751 mRNA Translation: BAG38105.1 AP001033 Genomic DNA No translation available. CH471113 Genomic DNA Translation: EAX01606.1 CH471113 Genomic DNA Translation: EAX01607.1 BC020490 mRNA Translation: AAH20490.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS11844.1 [Q9GZX9-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_065699.1, NM_020648.5 [Q9GZX9-1]
UniGeneⁱ	Hs.514685

3D structure databases

ProteinModelPortalⁱ	Q9GZX9
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	121338, 6 interactors
CORUMⁱ	Q9GZX9
IntActⁱ	Q9GZX9, 4 interactors
STRINGⁱ	9606.ENSP00000262120

PTM databases

iPTMnetⁱ	Q9GZX9
PhosphoSitePlusⁱ	Q9GZX9

Polymorphism and mutation databases

BioMutaⁱ	TWSG1
DMDMⁱ	74733506

Proteomic databases

EPDⁱ	Q9GZX9
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9GZX9
PaxDbⁱ	Q9GZX9
PeptideAtlas More...PeptideAtlasⁱ	Q9GZX9
PRIDEⁱ	Q9GZX9
ProteomicsDBⁱ	80169 80170 [Q9GZX9-2]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	57045
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000262120; ENSP00000262120; ENSG00000128791 [Q9GZX9-1] ENST00000583147; ENSP00000463331; ENSG00000128791 [Q9GZX9-2]
GeneIDⁱ	57045
KEGGⁱ	hsa:57045
UCSC genome browser More...UCSCⁱ	uc002knz.3 human [Q9GZX9-1]

Organism-specific databases

CTDⁱ	57045
DisGeNET More...DisGeNETⁱ	57045
EuPathDBⁱ	HostDB:ENSG00000128791.11
GeneCardsⁱ	TWSG1
H-InvDBⁱ	HIX0014324
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:12429 TWSG1
Human Protein Atlas More...HPAⁱ	HPA014898
MIMⁱ	605049 gene
neXtProtⁱ	NX_Q9GZX9
Open Targets More...OpenTargetsⁱ	ENSG00000128791
PharmGKBⁱ	PA37089
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IF1M Eukaryota ENOG4110NGY LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000007058
HOGENOMⁱ	HOG000044674
HOVERGENⁱ	HBG055753
InParanoidⁱ	Q9GZX9
OMAⁱ	CTCCKEC
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0J76
PhylomeDBⁱ	Q9GZX9
TreeFamⁱ	TF323922

Miscellaneous databases

GeneWikiⁱ	TWSG1
GenomeRNAiⁱ	57045
Protein Ontology More...PROⁱ	PR:Q9GZX9
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000128791
CleanExⁱ	HS_TWSG1
ExpressionAtlasⁱ	Q9GZX9 baseline and differential
Genevisibleⁱ	Q9GZX9 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR006761 Tsg
PANTHERⁱ	PTHR12312 PTHR12312, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF04668 Tsg, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	TWSG1_HUMAN
Accessionⁱ	Q9GZX9Primary (citable) accession number: Q9GZX9 Secondary accession number(s): B2RE08 , D3DUH9, Q8NBI7, Q96K46
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	March 6, 2007
	Last sequence update:	March 1, 2001
	Last modified:	July 18, 2018
	This is version 111 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

Human chromosome 18
Human chromosome 18: entries, gene names and cross-references to MIM
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
SIMILARITY comments
Index of protein domains and families

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UniRef

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Supporting data

UniProtKB - Q9GZX9 (TWSG1_HUMAN)

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Twisted gastrulation protein homolog 1

Select a section on the left to see content.

<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

<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

<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 - Biological processi

<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

Organism-specific databases

<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

Extracellular region or 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

Organism-specific databases

Polymorphism and mutation databases

<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

Amino acid modifications

Proteomic databases

PTM databases

<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

Organism-specific databases

<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>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

Protein-protein interaction databases

<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

<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

Compositional bias

<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

Phylogenomic databases

Family and domain databases

<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

Experimental Info

Alternative sequence

Sequence databases

Genome annotation databases

<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

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequence cautionⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ