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Protein

Twisted gastrulation protein homolog 1

Gene

TWSG1

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

Caution

GO - Molecular functioni

  • transforming growth factor beta binding Source: BHF-UCL

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein

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

EuPathDBiHostDB:ENSG00000128791.11
HGNCiHGNC:12429 TWSG1
MIMi605049 gene
neXtProtiNX_Q9GZX9

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; Source: COMPARTMENTS

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...) asparagineSequence analysis1
Glycosylationi81N-linked (GlcNAc...) asparagineSequence 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

GO - Molecular functioni

  • transforming growth factor beta binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi1213386 interactors.
CORUMiQ9GZX9
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
OMAiCTCCKEC
OrthoDBiEOG091G0J76
PhylomeDBiQ9GZX9
TreeFamiTF323922

Family and domain databases

InterProiView protein in InterPro
IPR006761 Tsg
PANTHERiPTHR12312 PTHR12312, 1 hit
PfamiView 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. 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

Similar proteinsi

Entry informationi

Entry nameiTWSG1_HUMAN
AccessioniPrimary (citable) accession number: Q9GZX9
Secondary accession number(s): B2RE08
, D3DUH9, Q8NBI7, Q96K46
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: March 1, 2001
Last modified: February 28, 2018
This is version 108 of the entry and version 1 of the sequence. See 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