Q01534 (TSPY1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

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) [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	308 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be involved in sperm differentiation and proliferation. Ref.1
Subcellular location	Cytoplasm. Nucleus. Note: Predominantly cytoplasmic. Also found in nucleus. Ref.1
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. Ref.1 Ref.11
Developmental stage	Detected in 22-week old testis. Ref.1
Induction	Up-regulated by androgen in a prostate cancer cell line. Ref.11
Post-translational modification	Phosphorylated. Ref.1
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	TSPY is located in the gonadoblastoma critical region and is preferentially expressed in tumor germ cells of gonadoblastoma specimens. Expression also correlates with testicular seminoma and tumorigenesis of the prostate gland. Ref.2 Ref.12 Ref.13
Sequence similarities	Belongs to the nucleosome assembly protein (NAP) family.
Sequence caution	The sequence AAA36570.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAA61238.1 differs from that shown. Reason: Probable unspliced transcript. The sequence CAA29640.1 differs from that shown. Reason: Sequence of unknown origin inserted in the coding sequence. 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
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW cell proliferation Traceable author statement Ref.1. Source: ProtInc gonadal mesoderm development Inferred from electronic annotation. Source: UniProtKB-KW nucleosome assembly Inferred from electronic annotation. Source: InterPro sex differentiation Traceable author statement Ref.7. Source: ProtInc spermatogenesis Traceable author statement Ref.1. Source: ProtInc
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
Eef1a1	P10126	5	EBI-1973142,EBI-773865	From a different organism.

Alternative products

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

Note: 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. Ref.2 Ref.10		VAR_016227
	Natural variant	216	1	I → F. Ref.5		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
	Sequence conflict	109	1	P → L in AAB51693. Ref.1
	Sequence conflict	109	1	P → L in AAD47421. Ref.2
	Sequence conflict	109	1	P → L in AAI21115. Ref.4
	Sequence conflict	109	1	P → L in AAA36570. Ref.7
	Sequence conflict	190	1	G → E in AAB51693. Ref.1
	Sequence conflict	190	1	G → E in AAD47421. Ref.2
	Sequence conflict	190	1	G → E in AAI21115. Ref.4
	Sequence conflict	190	1	G → E in AAA36570. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Short) (TSPY-S) [UniParc]. Last modified May 3, 2011. Version 4. Checksum: 5BDF0770F0B400A2	FASTA	308	35,012
	10 20 30 40 50 60 MRPEGSLTYR VPERLRQGFC GVGRAAQALV CASAKEGTAF RMEAVQEGAA GVESEQAALG 70 80 90 100 110 120 EEAVLLLDDI MAEVEVVAEE EGLVERREEA QRAQQAVPGP GPMTPESAPE ELLAVQVELE 130 140 150 160 170 180 PVNAQARKAF SRQREKMERR RKPHLDRRGA VIQSVPGFWA NVIANHPQMS ALITDEDEDM 190 200 210 220 230 240 LSYMVSLEVG 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: D00764D1DB24339A	FASTA	294	33,169
	10 20 30 40 50 60 MRPEGSLTYR VPERLRQGFC GVGRAAQALV CASAKEGTAF RMEAVQEGAA GVESEQAALG 70 80 90 100 110 120 EEAVLLLDDI MAEVEVVAEE EGLVERREEA QRAQQAVPGP GPMTPESAPE ELLAVQVELE 130 140 150 160 170 180 PVNAQARKAF SRQREKMERR RKPHLDRRGA VIQSVPGFWA NVIANHPQMS ALITDEDEDM 190 200 210 220 230 240 LSYMVSLEVG 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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[5]	"TSPY-related sequences represent a microheterogeneous gene family organized as constitutive elements in DYZ5 tandem repeat units on the human Y chromosome." Manz E., Schnieders F., Mueller Brechlin A., Schmidtke J. Genomics 17:726-731(1993) [PubMed] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: DISEASE.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U58096 mRNA. Translation: AAB51693.1. AF106331 Genomic DNA. Translation: AAD47421.1. AC006156 Genomic DNA. No translation available. BC121114 mRNA. Translation: AAI21115.1. X74029 Genomic DNA. No translation available. M94893 mRNA. Translation: AAA61238.1. Sequence problems. M98524 Genomic DNA. No translation available. M98525 mRNA. Translation: AAA36570.1. Different initiation. X06325 Genomic DNA. Translation: CAA29640.1. Sequence problems.
IPI	IPI00019072. IPI00337680.
PIR	A27293. A40571. I54327.
RefSeq	NP_001071165.2. NM_001077697.2. NP_003299.2. NM_003308.3. XP_003403544.1. XM_003403496.1.
UniGene	Hs.556121. Hs.646249. Hs.647493. Hs.730364.
3D structure databases
ProteinModelPortal	Q01534.
SMR	Q01534. Positions 106-288.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q01534. 3 interactions.
STRING	9606.ENSP00000314077.
PTM databases
PhosphoSite	Q01534.
Proteomic databases
PaxDb	Q01534.
PRIDE	Q01534.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000451548; ENSP00000403304; ENSG00000258992.
GeneID	100289087. 7258. 728137.
KEGG	hsa:100289087. hsa:7258. hsa:728137.
UCSC	uc004frw.4. human. uc004frx.4. human.
Organism-specific databases
CTD	100289087. 7258. 728137.
GeneCards	GC0YP009304.
H-InvDB	HIX0148579.
HGNC	HGNC:12381. TSPY1.
HPA	HPA049384.
MIM	480100. gene.
neXtProt	NX_Q01534.
Orphanet	1772. 45,X/46,XY mixed gonadal dysgenesis.
PharmGKB	PA165791579.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG277815.
HOGENOM	HOG000253937.
HOVERGEN	HBG014779.
InParanoid	Q01534.
KO	K11284.
OrthoDB	EOG4DZ1W3.
Gene expression databases
ArrayExpress	Q01534.
Bgee	Q01534.
CleanEx	HS_TSPY1.
Genevestigator	Q01534.
GermOnline	ENSG00000168692. Homo sapiens. ENSG00000185912. Homo sapiens.
Family and domain databases
InterPro	IPR002164. NAP_family. [Graphical view]
PANTHER	PTHR11875. PTHR11875. 1 hit.
Pfam	PF00956. NAP. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	20778832.
SOURCE	Search...

Entry information

Entry name

TSPY1_HUMAN

Accession

Primary (citable) accession number: Q01534
Secondary accession number(s): A6NJD2 , O00216, P09002, Q0VAD3, Q9UNN7

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	May 3, 2011
Last modified:	May 1, 2013
This is version 123 of the entry and version 4 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.