Q9GZX9 (TWSG1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Twisted gastrulation protein homolog 1

Gene names

Name:	TWSG1
Synonyms:	TSG
ORF Names:	PSEC0250

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	223 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Alternative splicing
Domain	Signal
Molecular function	Developmental protein
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	BMP signaling pathway Inferred from electronic annotation. Source: Compara camera-type eye development Inferred from electronic annotation. Source: Compara cell differentiation Inferred from electronic annotation. Source: Compara forebrain development Inferred from electronic annotation. Source: Compara hemopoiesis Inferred from electronic annotation. Source: Compara mesoderm formation Inferred from electronic annotation. Source: Compara negative regulation of BMP signaling pathway Inferred from electronic annotation. Source: Compara negative regulation of osteoblast differentiation Inferred from electronic annotation. Source: Compara ossification Inferred from electronic annotation. Source: Compara positive regulation of BMP signaling pathway Inferred from electronic annotation. Source: Compara salivary gland morphogenesis Inferred from electronic annotation. Source: Compara
Cellular_component	extracellular space Inferred from electronic annotation. Source: Compara
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 25	25	Potential
	Chain	26 – 223	198	Twisted gastrulation protein homolog 1		PRO_0000278808
Regions
	Compositional bias	26 – 77	52	Cys-rich
Amino acid modifications
	Glycosylation	52	1	N-linked (GlcNAc...) Potential
	Glycosylation	81	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	75	1	G → D in isoform 2.		VSP_042538
	Alternative sequence	76 – 223	148	Missing in isoform 2.		VSP_042539
Experimental info
	Sequence conflict	35	1	V → E in BAC11693. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 34AEB1A836871772	FASTA	223	25,017
	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
	Isoform 2 [UniParc]. Checksum: 7734E50FBC9CE962	FASTA	75	8,284
	10 20 30 40 50 60 MKLHYVAVLT LAILMFLTWL PESLSCNKAL CASDVSKCLI QELCQCRPGE GNCSCCKECM 70 LCLGALWDEC CDCVD

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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. , 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.
IPI	IPI00410487. IPI00830092.
RefSeq	NP_065699.1. NM_020648.5.
UniGene	Hs.514685.
3D structure databases
ProteinModelPortal	Q9GZX9.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000262120.
Polymorphism databases
DMDM	74733506.
Proteomic databases
PaxDb	Q9GZX9.
PRIDE	Q9GZX9.
Protocols and materials databases
DNASU	57045.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000262120; ENSP00000262120; ENSG00000128791. ENST00000583147; ENSP00000463331; ENSG00000128791.
GeneID	57045.
KEGG	hsa:57045.
UCSC	uc002knz.3. human.
Organism-specific databases
CTD	57045.
GeneCards	GC18P009324.
H-InvDB	HIX0014324.
HGNC	HGNC:12429. TWSG1.
HPA	HPA014898.
MIM	605049. gene.
neXtProt	NX_Q9GZX9.
PharmGKB	PA37089.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG70213.
HOGENOM	HOG000044674.
HOVERGEN	HBG055753.
InParanoid	Q9GZX9.
OMA	NCTVAFM.
OrthoDB	EOG4NCMDP.
PhylomeDB	Q9GZX9.
Gene expression databases
Bgee	Q9GZX9.
CleanEx	HS_TWSG1.
Genevestigator	Q9GZX9.
Family and domain databases
InterPro	IPR006761. Tsg. [Graphical view]
PANTHER	PTHR12312. PTHR12312. 1 hit.
Pfam	PF04668. Tsg. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	57045.
NextBio	62803.
SOURCE	Search...

Entry information

Entry name

TWSG1_HUMAN

Accession

Primary (citable) accession number: Q9GZX9
Secondary accession number(s): B2RE08 , D3DUH9, Q8NBI7, Q96K46

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 6, 2007
Last sequence update:	March 1, 2001
Last modified:	April 3, 2013
This is version 73 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.