Reviewed, UniProtKB/Swiss-Prot Q01534 (TSPY1_HUMAN)

Names and origin

Protein names

Recommended name:
    Testis-specific Y-encoded protein 1
Alternative name(s):
    Cancer/testis antigen 78
      Short name=CT78

Gene names

Name:	TSPY1
Synonyms:	TSPY

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	308 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Unknown. May be involved in sperm differentiation and proliferation.
Subcellular location	Cytoplasm. Nucleus. Note= Predominantly cytoplasmic. Also found in nucleus.
Tissue specificity	Specifically expressed in testicular tissues. Isoform 1 and isoform 2 are expressed in spermatogonia and spermatocytes. Found in early testicular carcinoma in situ, spermatogonial cells in testicular tissues of 46,X,Y female and in prostate cancer cell lines.
Developmental stage	Detected in 22-week old testis.
Induction	Up-regulated by androgen in a prostate cancer cell line.
Post-translational modification	Phosphorylated.
Polymorphism	Variants Val-Glu-Val-Val-Ala-Glu-79 Ins and Arg-195 are shown to be present in a number of TSPY1 copies of the Yp11 loci. Variant Arg-195 is shown to be present at least in one TSPY1 copy of the Yq locus. Maps to a tandemly repeated region on chromosome Yp11; additionally at least one copy is reported originating from Yq. The gene is thought to be present with an inter-individual variation in copy number and between 20 and 60 copies per Y chromosome are expected. Ref.3 reports 35 tandemly repeated gene copies on Yp11 originating from one individual.
Involvement in disease	May be associated with gonadoblastoma (GBY) [MIM:424500]. GBY is a rare tumor that rises mostly in the dysgenetic gonads of phenotypic females who harbor some Y-chromosomal material. Copies of TSPY fall within the GBY critical region and TSPY1 is preferentially expressed in the germ cells of tumor aggregates in GBY. Expression correlates with testicular seminoma, and tumorigenesis of the prostate gland. Lies in a chromosomal region that is frequently deleted in infertile males.
Sequence similarities	Belongs to the nucleosome assembly protein (NAP) family.
Sequence caution	The sequence AAA61238.1 differs from that shown. Reason: Miscellaneous discrepancy. Probable unspliced transcript. The sequence X74029 differs from that shown. Reason: Frameshift at several positions.

Ontologies

Keywords
Biological process	Differentiation Gonadal differentiation Spermatogenesis
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	Developmental protein
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW cell proliferation Ref.1 Traceable author statement. Source: ProtInc gonadal mesoderm development Inferred from electronic annotation. Source: UniProtKB-KW nucleosome assembly Inferred from electronic annotation. Source: InterPro spermatogenesis Ref.1 Traceable author statement. Source: ProtInc
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW nucleus Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
itself		1	EBI-1973142,EBI-1973142
Eef1a1	P10126	4	EBI-1973142,EBI-773865	From a different organism.
Eef1a2	P62631	1	EBI-1973142,EBI-642385	From a different organism.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Notes: Additional isoforms seem to exist.

Isoform 1 (identifier: Q01534-1)

Also known as: Short; TSPY-S;

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: Q01534-2)

Also known as: Long; TSPY-L;

The sequence of this isoform differs from the canonical sequence as follows:
     275-308: ILCKDLWRNPLQYYKRMKPPEEGTETSGDSQLLS → SPDRSYVRTCGAIPCNTTRG

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 308	308	Testis-specific Y-encoded protein 1		PRO_0000185668
Natural variations
	Alternative sequence	275 – 308	34	ILCKD…SQLLS → SPDRSYVRTCGAIPCNTTRG in isoform 2.		VSP_008012
	Natural variant	79	1	E → EVEVVAE		VAR_016226
	Natural variant	195	1	P → R		VAR_016227
	Natural variant	216	1	I → F		VAR_016228
Experimental info
	Sequence conflict	2 – 3	2	RP → PA in X74029. Ref.5
	Sequence conflict	92 – 93	2	RA → PR in AAB51693. Ref.1
	Sequence conflict	92 – 93	2	RA → PR in AAD47421. Ref.2
	Sequence conflict	92 – 93	2	RA → PR in AAA36570. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Short) (TSPY-S) [UniParc]. Last modified September 2, 2008. Version 3. Checksum: 5FFC7E3EC4981A4B	FASTA	308	35,101
	10 20 30 40 50 60 MRPEGSLTYR VPERLRQGFC GVGRAAQALV CASAKEGTAF RMEAVQEGAA GVESEQAALG 70 80 90 100 110 120 EEAVLLLDDI MAEVEVVAEE EGLVERREEA QRAQQAVPGP GPMTPESALE ELLAVQVELE 130 140 150 160 170 180 PVNAQARKAF SRQREKMERR RKPHLDRRGA VIQSVPGFWA NVIANHPQMS ALITDEDEDM 190 200 210 220 230 240 LSYMVSLEVE EEKHPVHLCK IMLFFRSNPY FQNKVITKEY LVNITEYRAS HSTPIEWYPD 250 260 270 280 290 300 YEVEAYRRRH HNSSLNFFNW FSDHNFAGSN KIAEILCKDL WRNPLQYYKR MKPPEEGTET SGDSQLLS
	Isoform 2 (Long) (TSPY-L) [UniParc]. Checksum: C2EB107F0140CFB0		294	33,257
	10 20 30 40 50 60 MRPEGSLTYR VPERLRQGFC GVGRAAQALV CASAKEGTAF RMEAVQEGAA GVESEQAALG 70 80 90 100 110 120 EEAVLLLDDI MAEVEVVAEE EGLVERREEA QRAQQAVPGP GPMTPESALE ELLAVQVELE 130 140 150 160 170 180 PVNAQARKAF SRQREKMERR RKPHLDRRGA VIQSVPGFWA NVIANHPQMS ALITDEDEDM 190 200 210 220 230 240 LSYMVSLEVE EEKHPVHLCK IMLFFRSNPY FQNKVITKEY LVNITEYRAS HSTPIEWYPD 250 260 270 280 290 YEVEAYRRRH HNSSLNFFNW FSDHNFAGSN KIAESPDRSY VRTCGAIPCN TTRG

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues." Schnieders F., Doerk T., Arnemann J., Vogel T., Werner P., Schmidtke J. Hum. Mol. Genet. 5:1801-1807(1996) [PubMed: 8923009] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, ALTERNATIVE SPLICING, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE, PHOSPHORYLATION. Tissue: Testis.
[2]	"Characterization of a new TSPY gene family member in Yq (TSPYq1)." Ratti A., Stuppia L., Gatta V., Fogh I., Calabrese G., Pizzuti A., Palka G. Cytogenet. Cell Genet. 88:159-162(2000) [PubMed: 10773691] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), DISEASE, VARIANT ARG-195.
[3]	"The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes." Skaletsky H., Kuroda-Kawaguchi T., Minx P.J., Cordum H.S., Hillier L.W., Brown L.G., Repping S., Pyntikova T., Ali J., Bieri T., Chinwalla A., Delehaunty A., Delehaunty K., Du H., Fewell G., Fulton L., Fulton R., Graves T.A. , Hou S.-F., Latrielle P., Leonard S., Mardis E., Maupin R., McPherson J., Miner T., Nash W., Nguyen C., Ozersky P., Pepin K., Rock S., Rohlfing T., Scott K., Schultz B., Strong C., Tin-Wollam A., Yang S.-P., Waterston R.H., Wilson R.K., Rozen S., Page D.C. Nature 423:825-837(2003) [PubMed: 12815422] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS VAL-GLU-VAL-VAL-ALA-GLU-79 INS AND ARG-195.
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[5]	"TSPY-related sequences represent a microheterogeneous gene family." Manz E., Schnieders F., Mueller Brechlin A., Schmidtke J. Genomics 17:726-731(1993) [PubMed: 8244388] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-274, VARIANT PHE-216.
[6]	"Cloning and sequence analysis of a human Y-chromosome-derived, testicular cDNA, TSPY." Arnemann J., Jakubiczka S., Thuring S., Schmidtke J. Genomics 11:108-114(1991) [PubMed: 1765369] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 5-248. Tissue: Testis.
[7]	"Molecular isolation and characterization of an expressed gene from the human Y chromosome." Zhang J.S., Yang-Feng T.L., Muller U., Mohandas T.K., de Jong P.J., Lau Y.-F.C. Hum. Mol. Genet. 1:717-726(1992) [PubMed: 1284595] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 42-308 (ISOFORM 2). Tissue: Testis.
[8]	"A human Y-chromosomal DNA sequence expressed in testicular tissue." Arnemann J., Epplen J.T., Cooke H.J., Sauermann U., Engel W., Schmidtke J. Nucleic Acids Res. 15:8713-8724(1987) [PubMed: 3479749] [Abstract] Cited for: PRELIMINARY PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Testis.
[9]	"Expression, alternative splicing and haplotype analysis of transcribed testis specific protein (TSPY) genes." Krick R., Jakubiczka S., Arnemann J. Gene 302:11-19(2003) [PubMed: 12527192] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), GENE FAMILY ORGANIZATION.
[10]	"TSPY variants in six loci on the human Y chromosome." Dechend F., Williams G., Skawran B., Schubert S., Krawczak M., Tyler-Smith C., Schmidtke J. Cytogenet. Cell Genet. 91:67-71(2000) [PubMed: 11173833] [Abstract] Cited for: VARIANTS VAL-GLU-VAL-VAL-ALA-GLU-79 INS AND ARG-195, GENE FAMILY ORGANIZATION.
[11]	"Expression analysis of thirty one Y chromosome genes in human prostate cancer." Lau Y.-F.C., Zhang J. Mol. Carcinog. 27:308-321(2000) [PubMed: 10747295] [Abstract] Cited for: TISSUE SPECIFICITY, INDUCTION.
[12]	"Gonadoblastoma, testicular and prostate cancers, and the TSPY gene." Lau Y.-F.C. Am. J. Hum. Genet. 64:921-927(1999) [PubMed: 10090875] [Abstract] Cited for: REVIEW, DISEASE.
[13]	"Expression of a candidate gene for the gonadoblastoma locus in gonadoblastoma and testicular seminoma." Lau Y.-F.C., Chou P.M., Iezzoni J.C., Alonzo J.A., Koemueves L.G. Cytogenet. Cell Genet. 91:160-164(2000) [PubMed: 11173850] [Abstract] Cited for: DISEASE.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	U58096 mRNA. Translation: AAB51693.1. M98524 Genomic DNA. No translation available. AF106331 Genomic DNA. Translation: AAD47421.1. AC006156 Genomic DNA. No translation available. AC006158 Genomic DNA. No translation available. AC025819 Genomic DNA. No translation available. BC121114 mRNA. Translation: AAI21115.1. X74029 Genomic DNA. No translation available. M94893 mRNA. Translation: AAA61238.1. Sequence problems. M98525 mRNA. Translation: AAA36570.1. Different initiation. X06325 Genomic DNA. Translation: CAA29640.1. Sequence problems.
PIR	A27293. A40571. I54327.
UniGene	Hs.556121 Hs.571766 Hs.592352 Hs.646249 Hs.647493
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q01534.
PTM databases
PhosphoSite	Q01534.
Genome annotation databases
Ensembl	ENSG00000168692. Homo sapiens. [Contig view] ENSG00000188656. Homo sapiens. [Contig view]
Organism-specific databases
H-InvDB	HIX0017184. HIX0077362. HIX0077368. HIX0093780.
HGNC	HGNC:12381. TSPY1.
MIM	424500. phenotype. 480100. gene.
PharmGKB	PA37049.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q01534.
HOVERGEN	Q01534.
Gene expression databases
CleanEx	HS_TSPY1.
GermOnline	ENSG00000168692. Homo sapiens. ENSG00000185912. Homo sapiens.
Family and domain databases
InterPro	IPR002164. NAP_family. [Graphical view]
PANTHER	PTHR11875. NAP_family. 1 hit.
Pfam	PF00956. NAP. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
LinkHub	Q01534.
SOURCE	Search...

Entry information

Entry name

TSPY1_HUMAN

Accession

Primary (citable) accession number: Q01534
Secondary accession number(s): O00216 , P09002, Q0VAD3, Q9UNN7

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	September 2, 2008
Last modified:	November 25, 2008
This is version 78 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)