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Q01534 (TSPY1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 135. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Testis-specific Y-encoded protein 1
Alternative name(s):
Cancer/testis antigen 78
Short name=CT78
Gene names
Name:TSPY1
Synonyms:TSPY
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length308 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Eef1a1P101265EBI-1973142,EBI-773865From 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 308308Testis-specific Y-encoded protein 1
PRO_0000185668

Natural variations

Alternative sequence275 – 30834ILCKD…SQLLS → SPDRSYVRTCGAIPCNTTRG in isoform 2.
VSP_008012
Natural variant791E → EVEVVAE.
VAR_016226
Natural variant1951P → R. Ref.2 Ref.10
VAR_016227
Natural variant2161I → F. Ref.5
VAR_016228

Experimental info

Sequence conflict2 – 32RP → PA in X74029. Ref.5
Sequence conflict92 – 932RA → PR in AAB51693. Ref.1
Sequence conflict92 – 932RA → PR in AAD47421. Ref.2
Sequence conflict92 – 932RA → PR in AAA36570. Ref.7
Sequence conflict1091P → L in AAB51693. Ref.1
Sequence conflict1091P → L in AAD47421. Ref.2
Sequence conflict1091P → L in AAI21115. Ref.4
Sequence conflict1091P → L in AAA36570. Ref.7
Sequence conflict1901G → E in AAB51693. Ref.1
Sequence conflict1901G → E in AAD47421. Ref.2
Sequence conflict1901G → E in AAI21115. Ref.4
Sequence conflict1901G → E in AAA36570. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Short) (TSPY-S) [UniParc].

Last modified May 3, 2011. Version 4.
Checksum: 5BDF0770F0B400A2

FASTA30835,012
        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 

« Hide

Isoform 2 (Long) (TSPY-L) [UniParc].

Checksum: D00764D1DB24339A
Show »

FASTA29433,169

References

« Hide '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. expand/collapse author list , 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.
CCDSCCDS48205.1. [Q01534-1]
PIRA27293.
A40571.
I54327.
RefSeqNP_001071165.2. NM_001077697.2.
NP_001269398.1. NM_001282469.1.
NP_003299.2. NM_003308.3. [Q01534-1]
UniGeneHs.556121.
Hs.646249.
Hs.647493.
Hs.730364.

3D structure databases

ProteinModelPortalQ01534.
SMRQ01534. Positions 106-288.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113109. 4 interactions.
608573. 1 interaction.
940742. 1 interaction.
DIPDIP-46607N.
IntActQ01534. 3 interactions.
STRING9606.ENSP00000314077.

PTM databases

PhosphoSiteQ01534.

Polymorphism databases

DMDM332278243.

Proteomic databases

PaxDbQ01534.
PRIDEQ01534.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000451548; ENSP00000403304; ENSG00000258992. [Q01534-1]
GeneID100289087.
7258.
728137.
KEGGhsa:100289087.
hsa:7258.
hsa:728137.
UCSCuc004frw.4. human. [Q01534-1]
uc004frx.4. human. [Q01534-2]

Organism-specific databases

CTD100289087.
7258.
728137.
GeneCardsGC0YP009304.
H-InvDBHIX0148579.
HGNCHGNC:12381. TSPY1.
HPAHPA049384.
MIM480100. gene.
neXtProtNX_Q01534.
Orphanet1772. 45,X/46,XY mixed gonadal dysgenesis.
1646. Partial chromosome Y deletion.
PharmGKBPA165791579.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG277815.
HOGENOMHOG000253937.
HOVERGENHBG014779.
InParanoidQ01534.
KOK11284.
OMARHERWWE.
OrthoDBEOG7FBRJB.
TreeFamTF313386.

Gene expression databases

BgeeQ01534.
CleanExHS_TSPY1.
GenevestigatorQ01534.

Family and domain databases

InterProIPR002164. NAP_family.
[Graphical view]
PANTHERPTHR11875. PTHR11875. 1 hit.
PfamPF00956. NAP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio20778832.
PROQ01534.
SOURCESearch...

Entry information

Entry nameTSPY1_HUMAN
AccessionPrimary (citable) accession number: Q01534
Secondary accession number(s): A6NJD2 expand/collapse secondary AC list , O00216, P09002, Q0VAD3, Q9UNN7
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: May 3, 2011
Last modified: July 9, 2014
This is version 135 of the entry and version 4 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome Y

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