UniProtKB - Q9GZX9 (TWSG1_HUMAN)
Twisted gastrulation protein homolog 1
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 similarityGO - Molecular functioni
- heparin binding Source: Ensembl
- transforming growth factor beta binding Source: BHF-UCL
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
- negative regulation of CD4-positive, alpha-beta T cell proliferation Source: BHF-UCL
- negative regulation of cytokine production Source: BHF-UCL
- 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
- regulation of BMP signaling pathway Source: GO_Central
- salivary gland morphogenesis Source: Ensembl
- transforming growth factor beta receptor signaling pathway Source: BHF-UCL
Keywordsi
Molecular function | Developmental protein |
Enzyme and pathway databases
PathwayCommonsi | Q9GZX9 |
SignaLinki | Q9GZX9 |
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 | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:12429, TWSG1 |
MIMi | 605049, gene |
neXtProti | NX_Q9GZX9 |
VEuPathDBi | HostDB:ENSG00000128791 |
Subcellular locationi
Extracellular region or secreted
- Secreted By similarity
Extracellular region or secreted
- extracellular space Source: GO_Central
Keywords - Cellular componenti
SecretedPathology & Biotechi
Organism-specific databases
DisGeNETi | 57045 |
OpenTargetsi | ENSG00000128791 |
PharmGKBi | PA37089 |
Miscellaneous databases
Pharosi | Q9GZX9, Tbio |
Genetic variation 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
GlycoproteinProteomic databases
CPTACi | CPTAC-1513 |
EPDi | Q9GZX9 |
jPOSTi | Q9GZX9 |
MassIVEi | Q9GZX9 |
MaxQBi | Q9GZX9 |
PaxDbi | Q9GZX9 |
PeptideAtlasi | Q9GZX9 |
PRIDEi | Q9GZX9 |
ProteomicsDBi | 80169 [Q9GZX9-1] 80170 [Q9GZX9-2] |
PTM databases
GlyConnecti | 1867, 4 N-Linked glycans (1 site) |
GlyGeni | Q9GZX9, 2 sites, 4 N-linked glycans (1 site) |
iPTMneti | Q9GZX9 |
PhosphoSitePlusi | Q9GZX9 |
Expressioni
Developmental stagei
Gene expression databases
Bgeei | ENSG00000128791, Expressed in seminal vesicle and 225 other tissues |
ExpressionAtlasi | Q9GZX9, baseline and differential |
Genevisiblei | Q9GZX9, HS |
Organism-specific databases
HPAi | ENSG00000128791, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with CHRD and BMP4. This interaction enhances CHRD/BMP4 complex formation.
Interacts with BMP7 (By similarity).
By similarityBinary interactionsi
Q9GZX9
GO - Molecular functioni
- transforming growth factor beta binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 121338, 14 interactors |
CORUMi | Q9GZX9 |
IntActi | Q9GZX9, 9 interactors |
STRINGi | 9606.ENSP00000262120 |
Miscellaneous databases
RNActi | Q9GZX9, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q9GZX9 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Domaini
Sequence similaritiesi
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | ENOG502QRE9, Eukaryota |
GeneTreei | ENSGT00390000007058 |
HOGENOMi | CLU_2670412_0_0_1 |
InParanoidi | Q9GZX9 |
OMAi | SCVDLCP |
OrthoDBi | 1254178at2759 |
PhylomeDBi | Q9GZX9 |
TreeFami | TF323922 |
Family and domain databases
InterProi | View protein in InterPro IPR006761, Tsg |
PANTHERi | PTHR12312, PTHR12312, 1 hit |
Pfami | View protein in Pfam PF04668, Tsg, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
The sequence of this isoform differs from the canonical sequence as follows:
75-75: G → D
76-223: Missing.
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketJ3QS03 | J3QS03_HUMAN | Twisted gastrulation protein homolo... | TWSG1 | 184 | Annotation score: |
Sequence cautioni
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 |
CCDSi | CCDS11844.1 [Q9GZX9-1] |
RefSeqi | NP_065699.1, NM_020648.5 [Q9GZX9-1] |
Genome annotation databases
Ensembli | ENST00000262120.10; ENSP00000262120.5; ENSG00000128791.12 ENST00000583147.5; ENSP00000463331.1; ENSG00000128791.12 [Q9GZX9-2] |
GeneIDi | 57045 |
KEGGi | hsa:57045 |
MANE-Selecti | ENST00000262120.10; ENSP00000262120.5; NM_020648.6; NP_065699.1 |
UCSCi | uc002knz.3, human [Q9GZX9-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS11844.1 [Q9GZX9-1] |
RefSeqi | NP_065699.1, NM_020648.5 [Q9GZX9-1] |
3D structure databases
AlphaFoldDBi | Q9GZX9 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 121338, 14 interactors |
CORUMi | Q9GZX9 |
IntActi | Q9GZX9, 9 interactors |
STRINGi | 9606.ENSP00000262120 |
PTM databases
GlyConnecti | 1867, 4 N-Linked glycans (1 site) |
GlyGeni | Q9GZX9, 2 sites, 4 N-linked glycans (1 site) |
iPTMneti | Q9GZX9 |
PhosphoSitePlusi | Q9GZX9 |
Genetic variation databases
BioMutai | TWSG1 |
DMDMi | 74733506 |
Proteomic databases
CPTACi | CPTAC-1513 |
EPDi | Q9GZX9 |
jPOSTi | Q9GZX9 |
MassIVEi | Q9GZX9 |
MaxQBi | Q9GZX9 |
PaxDbi | Q9GZX9 |
PeptideAtlasi | Q9GZX9 |
PRIDEi | Q9GZX9 |
ProteomicsDBi | 80169 [Q9GZX9-1] 80170 [Q9GZX9-2] |
Protocols and materials databases
Antibodypediai | 2970, 115 antibodies from 23 providers |
DNASUi | 57045 |
Genome annotation databases
Ensembli | ENST00000262120.10; ENSP00000262120.5; ENSG00000128791.12 ENST00000583147.5; ENSP00000463331.1; ENSG00000128791.12 [Q9GZX9-2] |
GeneIDi | 57045 |
KEGGi | hsa:57045 |
MANE-Selecti | ENST00000262120.10; ENSP00000262120.5; NM_020648.6; NP_065699.1 |
UCSCi | uc002knz.3, human [Q9GZX9-1] |
Organism-specific databases
CTDi | 57045 |
DisGeNETi | 57045 |
GeneCardsi | TWSG1 |
HGNCi | HGNC:12429, TWSG1 |
HPAi | ENSG00000128791, Low tissue specificity |
MIMi | 605049, gene |
neXtProti | NX_Q9GZX9 |
OpenTargetsi | ENSG00000128791 |
PharmGKBi | PA37089 |
VEuPathDBi | HostDB:ENSG00000128791 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QRE9, Eukaryota |
GeneTreei | ENSGT00390000007058 |
HOGENOMi | CLU_2670412_0_0_1 |
InParanoidi | Q9GZX9 |
OMAi | SCVDLCP |
OrthoDBi | 1254178at2759 |
PhylomeDBi | Q9GZX9 |
TreeFami | TF323922 |
Enzyme and pathway databases
PathwayCommonsi | Q9GZX9 |
SignaLinki | Q9GZX9 |
Miscellaneous databases
BioGRID-ORCSi | 57045, 12 hits in 1079 CRISPR screens |
ChiTaRSi | TWSG1, human |
GeneWikii | TWSG1 |
GenomeRNAii | 57045 |
Pharosi | Q9GZX9, Tbio |
PROi | PR:Q9GZX9 |
RNActi | Q9GZX9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000128791, Expressed in seminal vesicle and 225 other tissues |
ExpressionAtlasi | Q9GZX9, baseline and differential |
Genevisiblei | Q9GZX9, HS |
Family and domain databases
InterProi | View protein in InterPro IPR006761, Tsg |
PANTHERi | PTHR12312, PTHR12312, 1 hit |
Pfami | View protein in Pfam PF04668, Tsg, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | TWSG1_HUMAN | |
Accessioni | Q9GZX9Primary (citable) accession number: Q9GZX9 Secondary accession number(s): B2RE08 Q96K46 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 6, 2007 |
Last sequence update: | March 1, 2001 | |
Last modified: | May 25, 2022 | |
This is version 133 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
Reference proteomeDocuments
- 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