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Q9GZX9 (TWSG1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 82. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Twisted gastrulation protein homolog 1
Gene names
Name:TWSG1
Synonyms:TSG
ORF Names:PSEC0250
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length223 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Secreted By similarity.

Developmental stage

Expressed in brain throughout development. Ref.3

Domain

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

Sequence similarities

Belongs to the twisted gastrulation protein family.

Sequence caution

The sequence BAB55246.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9GZX9-1)

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.
Isoform 2 (identifier: Q9GZX9-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2525 Potential
Chain26 – 223198Twisted gastrulation protein homolog 1
PRO_0000278808

Regions

Compositional bias26 – 7752Cys-rich

Amino acid modifications

Glycosylation521N-linked (GlcNAc...) Potential
Glycosylation811N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence751G → D in isoform 2.
VSP_042538
Alternative sequence76 – 223148Missing in isoform 2.
VSP_042539

Experimental info

Sequence conflict351V → E in BAC11693. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 34AEB1A836871772

FASTA22325,017
        10         20         30         40         50         60 
MKLHYVAVLT LAILMFLTWL PESLSCNKAL CASDVSKCLI QELCQCRPGE GNCSCCKECM 

        70         80         90        100        110        120 
LCLGALWDEC CDCVGMCNPR NYSDTPPTSK STVEELHEPI PSLFRALTEG DTQLNWNIVS 

       130        140        150        160        170        180 
FPVAEELSHH ENLVSFLETV NQPHHQNVSV PSNNVHAPYS SDKEHMCTVV YFDDCMSIHQ 

       190        200        210        220 
CKISCESMGA SKYRWFHNAC CECIGPECID YGSKTVKCMN CMF 

« Hide

Isoform 2 [UniParc].

Checksum: 7734E50FBC9CE962
Show »

FASTA758,284

References

« Hide 'large scale' references
[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]Erratum
Scott I.C., Blitz I.L., Pappano W.N., Maas S.A., Cho K.W.Y., Greenspan D.S.
Nature 411:720-720(2001)
[3]"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.
[4]"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.
[5]"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. expand/collapse author list , 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.
[6]"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. expand/collapse author list , 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.
[7]"DNA sequence and analysis of human chromosome 18."
Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. expand/collapse author list , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.
Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]"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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS11844.1. [Q9GZX9-1]
RefSeqNP_065699.1. NM_020648.5. [Q9GZX9-1]
UniGeneHs.514685.

3D structure databases

ProteinModelPortalQ9GZX9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121338. 2 interactions.
STRING9606.ENSP00000262120.

Polymorphism databases

DMDM74733506.

Proteomic databases

MaxQBQ9GZX9.
PaxDbQ9GZX9.
PRIDEQ9GZX9.

Protocols and materials databases

DNASU57045.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000262120; ENSP00000262120; ENSG00000128791. [Q9GZX9-1]
ENST00000583147; ENSP00000463331; ENSG00000128791. [Q9GZX9-2]
GeneID57045.
KEGGhsa:57045.
UCSCuc002knz.3. human. [Q9GZX9-1]

Organism-specific databases

CTD57045.
GeneCardsGC18P009324.
H-InvDBHIX0014324.
HGNCHGNC:12429. TWSG1.
HPAHPA014898.
MIM605049. gene.
neXtProtNX_Q9GZX9.
PharmGKBPA37089.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG70213.
HOGENOMHOG000044674.
HOVERGENHBG055753.
InParanoidQ9GZX9.
OMANCTVAFM.
OrthoDBEOG7J70GN.
PhylomeDBQ9GZX9.
TreeFamTF323922.

Gene expression databases

ArrayExpressQ9GZX9.
BgeeQ9GZX9.
CleanExHS_TWSG1.
GenevestigatorQ9GZX9.

Family and domain databases

InterProIPR006761. Tsg.
[Graphical view]
PANTHERPTHR12312. PTHR12312. 1 hit.
PfamPF04668. Tsg. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiTWSG1.
GenomeRNAi57045.
NextBio62803.
PROQ9GZX9.
SOURCESearch...

Entry information

Entry nameTWSG1_HUMAN
AccessionPrimary (citable) accession number: Q9GZX9
Secondary accession number(s): B2RE08 expand/collapse secondary AC list , D3DUH9, Q8NBI7, Q96K46
Entry history
Integrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 82 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM