Q16384 (SSX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein SSX1

Alternative name(s):
Cancer/testis antigen 5.1
Short name=CT5.1
Synovial sarcoma, X breakpoint 1

Gene names

Name:

SSX1

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	188 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Could act as a modulator of transcription.
Tissue specificity	Expressed at high level in the testis. Expressed at low level in thyroid. Not detected in tonsil, colon, lung, spleen, prostate, kidney, striated and smooth muscles. Detected in rhabdomyosarcoma and fibrosarcoma cell lines. Not detected in mesenchymal and epithelial cell lines.
Involvement in disease	A chromosomal aberration involving SSX1 may be a cause of synovial sarcoma. Translocation t(X;18)(p11.2;q11.2). The translocation is specifically found in more than 80% of synovial sarcoma. The fusion products SSXT-SSX1 or SSXT-SSX2 are probably responsible for transforming activity. Heterogeneity in the position of the breakpoint can occur (low frequency).
Sequence similarities	Belongs to the SSX family. Contains 1 KRAB-related domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Coding sequence diversity	Chromosomal rearrangement
Disease	Proto-oncogene
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Traceable author statement PubMed 10072425. Source: ProtInc
Molecular_function	nucleic acid binding Inferred from electronic annotation. Source: InterPro transcription corepressor activity Traceable author statement PubMed 10072425. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 188	188	Protein SSX1		PRO_0000181828
Regions
	Domain	20 – 83	64	KRAB-related
Sites
	Site	62 – 63	2	Breakpoint for translocation to form the SSXT-SSX1 fusion protein (rare)
	Site	110 – 111	2	Breakpoint for translocation to form the SSXT-SSX1 fusion protein

Sequences

	Sequence		Length	Mass (Da)
	Q16384 [UniParc]. Last modified December 15, 1998. Version 2. Checksum: E440D1B2AE3AE9F7	FASTA	188	21,931
	10 20 30 40 50 60 MNGDDTFAKR PRDDAKASEK RSKAFDDIAT YFSKKEWKKM KYSEKISYVY MKRNYKAMTK 70 80 90 100 110 120 LGFKVTLPPF MCNKQATDFQ GNDFDNDHNR RIQVEHPQMT FGRLHRIIPK IMPKKPAEDE 130 140 150 160 170 180 NDSKGVSEAS GPQNDGKQLH PPGKANISEK INKRSGPKRG KHAWTHRLRE RKQLVIYEEI SDPEEDDE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Fusion of SYT to two genes, SSX1 and SSX2, encoding proteins with homology to the Kruppel-associated box in human synovial sarcoma." Crew A.J., Clark J., Fisher C., Gill S., Grimer R., Chand A., Shipley J., Gusterson B.A., Cooper C.S. EMBO J. 14:2333-2340(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Fibrosarcoma.
[2]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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]. Tissue: Placenta and Skin.
[4]	"Identification of two alternative fusion genes, SYT-SSX1 and SYT-SSX2, in t(X;18)(p11.2;q11.2)-positive synovial sarcomas." de Leeuw B., Balemans M., Olde Weghuis D., Geurts van Kessel A. Hum. Mol. Genet. 4:1097-1099(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 111-188. Tissue: Synovial sarcoma.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X86174 mRNA. Translation: CAA60110.1. AL683817 Genomic DNA. Translation: CAI41141.1. BC001003 mRNA. Translation: AAH01003.1. BC125151 mRNA. Translation: AAI25152.1. BC128611 mRNA. Translation: AAI28612.1. BC133693 mRNA. Translation: AAI33694.1. BC150487 mRNA. Translation: AAI50488.1. S79325 mRNA. Translation: AAB35378.1.
IPI	IPI00001519.
PIR	S55057.
RefSeq	NP_005626.1. NM_005635.2.
UniGene	Hs.434142.
3D structure databases
ProteinModelPortal	Q16384.
SMR	Q16384. Positions 19-70.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000366118.
PTM databases
PhosphoSite	Q16384.
Polymorphism databases
DMDM	3915027.
Proteomic databases
PaxDb	Q16384.
PRIDE	Q16384.
Protocols and materials databases
DNASU	6756.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000376919; ENSP00000366118; ENSG00000126752. ENST00000596574; ENSP00000472663; ENSG00000268546.
GeneID	6756.
KEGG	hsa:6756.
UCSC	uc004djb.1. human.
Organism-specific databases
CTD	6756.
GeneCards	GC0XP048114.
HGNC	HGNC:11335. SSX1.
MIM	312820. gene+phenotype.
neXtProt	NX_Q16384.
Orphanet	3273. Synovial sarcoma.
PharmGKB	PA36159.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG147011.
HOGENOM	HOG000231461.
HOVERGEN	HBG002056.
InParanoid	Q16384.
KO	K15624.
OMA	RRIQVEH.
OrthoDB	EOG4G4GRJ.
Gene expression databases
Bgee	Q16384.
CleanEx	HS_SSX1.
Genevestigator	Q16384.
GermOnline	ENSG00000126752. Homo sapiens.
Family and domain databases
InterPro	IPR001909. Krueppel-associated_box. IPR003655. Krueppel-associated_box-rel. IPR019041. SSXRD_motif. [Graphical view]
Pfam	PF09514. SSXRD. 1 hit. [Graphical view]
SMART	SM00349. KRAB. 1 hit. [Graphical view]
SUPFAM	SSF109640. Krueppel-associated_box. 1 hit.
PROSITE	PS50806. KRAB_RELATED. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	SSX1. human.
GenomeRNAi	6756.
NextBio	26356.
SOURCE	Search...

Entry information

Entry name

SSX1_HUMAN

Accession

Primary (citable) accession number: Q16384
Secondary accession number(s): A3KN76, Q08AJ2, Q5JQ64

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 15, 1998
Last sequence update:	December 15, 1998
Last modified:	May 1, 2013
This is version 108 of the entry and version 2 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.