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Protein

Twisted gastrulation protein homolog 1

Gene

TWSG1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Enzyme and pathway databases

BioCyciZFISH:ENSG00000128791-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Twisted gastrulation protein homolog 1
Gene namesi
Name:TWSG1
Synonyms:TSG
ORF Names:PSEC0250
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:12429. TWSG1.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • extracellular space Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi57045.
OpenTargetsiENSG00000128791.
PharmGKBiPA37089.

Polymorphism and mutation databases

BioMutaiTWSG1.
DMDMi74733506.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25Sequence analysisAdd BLAST25
ChainiPRO_000027880826 – 223Twisted gastrulation protein homolog 1Add BLAST198

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi52N-linked (GlcNAc...)Sequence analysis1
Glycosylationi81N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9GZX9.
MaxQBiQ9GZX9.
PaxDbiQ9GZX9.
PeptideAtlasiQ9GZX9.
PRIDEiQ9GZX9.

PTM databases

iPTMnetiQ9GZX9.
PhosphoSitePlusiQ9GZX9.

Expressioni

Developmental stagei

Expressed in brain throughout development.1 Publication

Gene expression databases

BgeeiENSG00000128791.
CleanExiHS_TWSG1.
ExpressionAtlasiQ9GZX9. baseline and differential.
GenevisibleiQ9GZX9. HS.

Organism-specific databases

HPAiHPA014898.

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
SGTAO437653EBI-10304067,EBI-347996

Protein-protein interaction databases

BioGridi121338. 5 interactors.
IntActiQ9GZX9. 2 interactors.
STRINGi9606.ENSP00000262120.

Structurei

3D structure databases

ProteinModelPortaliQ9GZX9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi26 – 77Cys-richAdd BLAST52

Domaini

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

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IF1M. Eukaryota.
ENOG4110NGY. LUCA.
GeneTreeiENSGT00390000007058.
HOGENOMiHOG000044674.
HOVERGENiHBG055753.
InParanoidiQ9GZX9.
OMAiKYYEECC.
OrthoDBiEOG091G0J76.
PhylomeDBiQ9GZX9.
TreeFamiTF323922.

Family and domain databases

InterProiIPR006761. Tsg.
[Graphical view]
PANTHERiPTHR12312. PTHR12312. 1 hit.
PfamiPF04668. Tsg. 1 hit.
[Graphical view]

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. AlignAdd to basket

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

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

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 keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti35V → E in BAC11693 (PubMed:16303743).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04253875G → D in isoform 2. 1 Publication1
Alternative sequenceiVSP_04253976 – 223Missing in isoform 2. 1 PublicationAdd BLAST148

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.
CCDSiCCDS11844.1. [Q9GZX9-1]
RefSeqiNP_065699.1. NM_020648.5. [Q9GZX9-1]
UniGeneiHs.514685.

Genome annotation databases

EnsembliENST00000262120; ENSP00000262120; ENSG00000128791. [Q9GZX9-1]
ENST00000583147; ENSP00000463331; ENSG00000128791. [Q9GZX9-2]
GeneIDi57045.
KEGGihsa:57045.
UCSCiuc002knz.3. human. [Q9GZX9-1]

Keywords - Coding sequence diversityi

Alternative splicing

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.
CCDSiCCDS11844.1. [Q9GZX9-1]
RefSeqiNP_065699.1. NM_020648.5. [Q9GZX9-1]
UniGeneiHs.514685.

3D structure databases

ProteinModelPortaliQ9GZX9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121338. 5 interactors.
IntActiQ9GZX9. 2 interactors.
STRINGi9606.ENSP00000262120.

PTM databases

iPTMnetiQ9GZX9.
PhosphoSitePlusiQ9GZX9.

Polymorphism and mutation databases

BioMutaiTWSG1.
DMDMi74733506.

Proteomic databases

EPDiQ9GZX9.
MaxQBiQ9GZX9.
PaxDbiQ9GZX9.
PeptideAtlasiQ9GZX9.
PRIDEiQ9GZX9.

Protocols and materials databases

DNASUi57045.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262120; ENSP00000262120; ENSG00000128791. [Q9GZX9-1]
ENST00000583147; ENSP00000463331; ENSG00000128791. [Q9GZX9-2]
GeneIDi57045.
KEGGihsa:57045.
UCSCiuc002knz.3. human. [Q9GZX9-1]

Organism-specific databases

CTDi57045.
DisGeNETi57045.
GeneCardsiTWSG1.
H-InvDBHIX0014324.
HGNCiHGNC:12429. TWSG1.
HPAiHPA014898.
MIMi605049. gene.
neXtProtiNX_Q9GZX9.
OpenTargetsiENSG00000128791.
PharmGKBiPA37089.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF1M. Eukaryota.
ENOG4110NGY. LUCA.
GeneTreeiENSGT00390000007058.
HOGENOMiHOG000044674.
HOVERGENiHBG055753.
InParanoidiQ9GZX9.
OMAiKYYEECC.
OrthoDBiEOG091G0J76.
PhylomeDBiQ9GZX9.
TreeFamiTF323922.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000128791-MONOMER.

Miscellaneous databases

GeneWikiiTWSG1.
GenomeRNAii57045.
PROiQ9GZX9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000128791.
CleanExiHS_TWSG1.
ExpressionAtlasiQ9GZX9. baseline and differential.
GenevisibleiQ9GZX9. HS.

Family and domain databases

InterProiIPR006761. Tsg.
[Graphical view]
PANTHERiPTHR12312. PTHR12312. 1 hit.
PfamiPF04668. Tsg. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTWSG1_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 101 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.