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Q9GZX9

- TWSG1_HUMAN

UniProt

Q9GZX9 - TWSG1_HUMAN

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Protein

Twisted gastrulation protein homolog 1

Gene

TWSG1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript 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

  1. BMP signaling pathway Source: Ensembl
  2. camera-type eye development Source: Ensembl
  3. cell differentiation Source: Ensembl
  4. forebrain development Source: Ensembl
  5. hemopoiesis Source: Ensembl
  6. mesoderm formation Source: Ensembl
  7. negative regulation of BMP signaling pathway Source: Ensembl
  8. negative regulation of osteoblast differentiation Source: Ensembl
  9. ossification Source: Ensembl
  10. positive regulation of BMP signaling pathway Source: Ensembl
  11. salivary gland morphogenesis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental 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
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:12429. TWSG1.

Subcellular locationi

Secreted By similarity

GO - Cellular componenti

  1. extracellular space Source: Ensembl
  2. extracellular vesicular exosome Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA37089.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2525Sequence AnalysisAdd
BLAST
Chaini26 – 223198Twisted gastrulation protein homolog 1PRO_0000278808Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi52 – 521N-linked (GlcNAc...)Sequence Analysis
Glycosylationi81 – 811N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9GZX9.
PaxDbiQ9GZX9.
PRIDEiQ9GZX9.

Expressioni

Developmental stagei

Expressed in brain throughout development.1 Publication

Gene expression databases

BgeeiQ9GZX9.
CleanExiHS_TWSG1.
ExpressionAtlasiQ9GZX9. baseline and differential.
GenevestigatoriQ9GZX9.

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

Protein-protein interaction databases

BioGridi121338. 2 interactions.
STRINGi9606.ENSP00000262120.

Structurei

3D structure databases

ProteinModelPortaliQ9GZX9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi26 – 7752Cys-richAdd
BLAST

Domaini

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

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG70213.
GeneTreeiENSGT00390000007058.
HOGENOMiHOG000044674.
HOVERGENiHBG055753.
InParanoidiQ9GZX9.
OMAiNCTVAFM.
OrthoDBiEOG7J70GN.
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. Align

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti35 – 351V → E in BAC11693. (PubMed:16303743)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei75 – 751G → D in isoform 2. 1 PublicationVSP_042538
Alternative sequencei76 – 223148Missing in isoform 2. 1 PublicationVSP_042539Add
BLAST

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]

Polymorphism databases

DMDMi74733506.

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 .
CCDSi CCDS11844.1. [Q9GZX9-1 ]
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. 2 interactions.
STRINGi 9606.ENSP00000262120.

Polymorphism databases

DMDMi 74733506.

Proteomic databases

MaxQBi Q9GZX9.
PaxDbi Q9GZX9.
PRIDEi Q9GZX9.

Protocols and materials databases

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.
UCSCi uc002knz.3. human. [Q9GZX9-1 ]

Organism-specific databases

CTDi 57045.
GeneCardsi GC18P009324.
H-InvDB HIX0014324.
HGNCi HGNC:12429. TWSG1.
HPAi HPA014898.
MIMi 605049. gene.
neXtProti NX_Q9GZX9.
PharmGKBi PA37089.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG70213.
GeneTreei ENSGT00390000007058.
HOGENOMi HOG000044674.
HOVERGENi HBG055753.
InParanoidi Q9GZX9.
OMAi NCTVAFM.
OrthoDBi EOG7J70GN.
PhylomeDBi Q9GZX9.
TreeFami TF323922.

Miscellaneous databases

GeneWikii TWSG1.
GenomeRNAii 57045.
NextBioi 62803.
PROi Q9GZX9.
SOURCEi Search...

Gene expression databases

Bgeei Q9GZX9.
CleanExi HS_TWSG1.
ExpressionAtlasi Q9GZX9. baseline and differential.
Genevestigatori Q9GZX9.

Family and domain databases

InterProi IPR006761. Tsg.
[Graphical view ]
PANTHERi PTHR12312. PTHR12312. 1 hit.
Pfami PF04668. Tsg. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Homologues of Twisted gastrulation are extracellular cofactors in antagonism of BMP signalling."
    Scott I.C., Blitz I.L., Pappano W.N., Maas S.A., Cho K.W.Y., Greenspan D.S.
    Nature 410:475-478(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Aorta.
  2. "Evolutionary conservation, developmental expression, and genomic mapping of mammalian Twisted gastrulation."
    Graf D., Timmons P.M., Hitchins M., Episkopou V., Moore G., Ito T., Fujiyama A., Fisher A.G., Merkenschlager M.
    Mamm. Genome 12:554-560(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), DEVELOPMENTAL STAGE.
  3. "Human Twisted gastrulation protein: a new signal pathway for spermatogenesis."
    Li J.M., Sha J.H., Zhou Z.M.
    Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Testis.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Teratocarcinoma and Uterus.
  5. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
    Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
    , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
    DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Teratocarcinoma.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Lung.

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: October 29, 2014
This is version 85 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

External Data

Dasty 3