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Q01534

- TSPY1_HUMAN

UniProt

Q01534 - TSPY1_HUMAN

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Protein

Testis-specific Y-encoded protein 1

Gene

TSPY1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

May be involved in sperm differentiation and proliferation.1 Publication

GO - Biological processi

  1. cell differentiation Source: UniProtKB-KW
  2. cell proliferation Source: ProtInc
  3. gonadal mesoderm development Source: UniProtKB-KW
  4. nucleosome assembly Source: InterPro
  5. sex differentiation Source: ProtInc
  6. spermatogenesis Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Gonadal differentiation, Spermatogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Testis-specific Y-encoded protein 1
Alternative name(s):
Cancer/testis antigen 78
Short name:
CT78
Gene namesi
Name:TSPY1
Synonyms:TSPY
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome Y

Organism-specific databases

HGNCiHGNC:12381. TSPY1.

Subcellular locationi

Cytoplasm 1 Publication. Nucleus 1 Publication
Note: Predominantly cytoplasmic. Also found in nucleus.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
  2. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.3 Publications

Organism-specific databases

Orphaneti1772. 45,X/46,XY mixed gonadal dysgenesis.
1646. Partial chromosome Y deletion.
PharmGKBiPA165791579.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 308308Testis-specific Y-encoded protein 1PRO_0000185668Add
BLAST

Post-translational modificationi

Phosphorylated.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ01534.
PRIDEiQ01534.

PTM databases

PhosphoSiteiQ01534.

Expressioni

Tissue specificityi

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.2 Publications

Developmental stagei

Detected in 22-week old testis.1 Publication

Inductioni

Up-regulated by androgen in a prostate cancer cell line.1 Publication

Gene expression databases

BgeeiQ01534.
CleanExiHS_TSPY1.
ExpressionAtlasiQ01534. baseline.
GenevestigatoriQ01534.

Organism-specific databases

HPAiHPA049384.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
Eef1a1P101265EBI-1973142,EBI-773865From a different organism.

Protein-protein interaction databases

BioGridi113109. 4 interactions.
608573. 1 interaction.
940742. 1 interaction.
DIPiDIP-46607N.
IntActiQ01534. 3 interactions.
STRINGi9606.ENSP00000314077.

Structurei

3D structure databases

ProteinModelPortaliQ01534.
SMRiQ01534. Positions 106-288.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG277815.
GeneTreeiENSGT00530000062882.
HOGENOMiHOG000253937.
HOVERGENiHBG014779.
InParanoidiQ01534.
KOiK11284.
OMAiRHERWWE.
OrthoDBiEOG7FBRJB.
TreeFamiTF313386.

Family and domain databases

InterProiIPR002164. NAP_family.
[Graphical view]
PANTHERiPTHR11875. PTHR11875. 1 hit.
PfamiPF00956. NAP. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q01534-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MRPEGSLTYR VPERLRQGFC GVGRAAQALV CASAKEGTAF RMEAVQEGAA
60 70 80 90 100
GVESEQAALG EEAVLLLDDI MAEVEVVAEE EGLVERREEA QRAQQAVPGP
110 120 130 140 150
GPMTPESAPE ELLAVQVELE PVNAQARKAF SRQREKMERR RKPHLDRRGA
160 170 180 190 200
VIQSVPGFWA NVIANHPQMS ALITDEDEDM LSYMVSLEVG EEKHPVHLCK
210 220 230 240 250
IMLFFRSNPY FQNKVITKEY LVNITEYRAS HSTPIEWYPD YEVEAYRRRH
260 270 280 290 300
HNSSLNFFNW FSDHNFAGSN KIAEILCKDL WRNPLQYYKR MKPPEEGTET

SGDSQLLS
Length:308
Mass (Da):35,012
Last modified:May 3, 2011 - v4
Checksum:i5BDF0770F0B400A2
GO
Isoform 2 (identifier: Q01534-2) [UniParc]FASTAAdd to Basket

Also known as: Long, TSPY-L

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

Show »
Length:294
Mass (Da):33,169
Checksum:iD00764D1DB24339A
GO

Sequence cautioni

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.
The sequence AAA36570.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2 – 32RP → PA in X74029. (PubMed:8244388)Curated
Sequence conflicti92 – 932RA → PR in AAB51693. (PubMed:8923009)Curated
Sequence conflicti92 – 932RA → PR in AAD47421. (PubMed:10773691)Curated
Sequence conflicti92 – 932RA → PR in AAA36570. (PubMed:1284595)Curated
Sequence conflicti109 – 1091P → L in AAB51693. (PubMed:8923009)Curated
Sequence conflicti109 – 1091P → L in AAD47421. (PubMed:10773691)Curated
Sequence conflicti109 – 1091P → L in AAI21115. (PubMed:15489334)Curated
Sequence conflicti109 – 1091P → L in AAA36570. (PubMed:1284595)Curated
Sequence conflicti190 – 1901G → E in AAB51693. (PubMed:8923009)Curated
Sequence conflicti190 – 1901G → E in AAD47421. (PubMed:10773691)Curated
Sequence conflicti190 – 1901G → E in AAI21115. (PubMed:15489334)Curated
Sequence conflicti190 – 1901G → E in AAA36570. (PubMed:1284595)Curated

Polymorphismi

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. PubMed:12815422 reports 35 tandemly repeated gene copies on Yp11 originating from one individual.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti79 – 791E → EVEVVAE.
VAR_016226
Natural varianti195 – 1951P → R.2 Publications
VAR_016227
Natural varianti216 – 2161I → F.1 Publication
VAR_016228

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei275 – 30834ILCKD…SQLLS → SPDRSYVRTCGAIPCNTTRG in isoform 2. CuratedVSP_008012Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS48205.1. [Q01534-1]
CCDS76071.1. [Q01534-2]
PIRiA27293.
A40571.
I54327.
RefSeqiNP_001071165.2. NM_001077697.2.
NP_001269398.1. NM_001282469.1.
NP_003299.2. NM_003308.3. [Q01534-1]
UniGeneiHs.556121.
Hs.646249.
Hs.647493.
Hs.730364.

Genome annotation databases

GeneIDi100289087.
7258.
728137.
KEGGihsa:100289087.
hsa:7258.
hsa:728137.
UCSCiuc004frw.4. human. [Q01534-1]
uc004frx.4. human. [Q01534-2]

Polymorphism databases

DMDMi332278243.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS48205.1. [Q01534-1 ]
CCDS76071.1. [Q01534-2 ]
PIRi A27293.
A40571.
I54327.
RefSeqi NP_001071165.2. NM_001077697.2.
NP_001269398.1. NM_001282469.1.
NP_003299.2. NM_003308.3. [Q01534-1 ]
UniGenei Hs.556121.
Hs.646249.
Hs.647493.
Hs.730364.

3D structure databases

ProteinModelPortali Q01534.
SMRi Q01534. Positions 106-288.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113109. 4 interactions.
608573. 1 interaction.
940742. 1 interaction.
DIPi DIP-46607N.
IntActi Q01534. 3 interactions.
STRINGi 9606.ENSP00000314077.

PTM databases

PhosphoSitei Q01534.

Polymorphism databases

DMDMi 332278243.

Proteomic databases

PaxDbi Q01534.
PRIDEi Q01534.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

GeneIDi 100289087.
7258.
728137.
KEGGi hsa:100289087.
hsa:7258.
hsa:728137.
UCSCi uc004frw.4. human. [Q01534-1 ]
uc004frx.4. human. [Q01534-2 ]

Organism-specific databases

CTDi 100289087.
7258.
728137.
GeneCardsi GC0YP009304.
H-InvDB HIX0148579.
HGNCi HGNC:12381. TSPY1.
HPAi HPA049384.
MIMi 480100. gene.
neXtProti NX_Q01534.
Orphaneti 1772. 45,X/46,XY mixed gonadal dysgenesis.
1646. Partial chromosome Y deletion.
PharmGKBi PA165791579.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG277815.
GeneTreei ENSGT00530000062882.
HOGENOMi HOG000253937.
HOVERGENi HBG014779.
InParanoidi Q01534.
KOi K11284.
OMAi RHERWWE.
OrthoDBi EOG7FBRJB.
TreeFami TF313386.

Miscellaneous databases

NextBioi 20778832.
PROi Q01534.
SOURCEi Search...

Gene expression databases

Bgeei Q01534.
CleanExi HS_TSPY1.
ExpressionAtlasi Q01534. baseline.
Genevestigatori Q01534.

Family and domain databases

InterProi IPR002164. NAP_family.
[Graphical view ]
PANTHERi PTHR11875. PTHR11875. 1 hit.
Pfami PF00956. NAP. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.

Entry informationi

Entry nameiTSPY1_HUMAN
AccessioniPrimary (citable) accession number: Q01534
Secondary accession number(s): A6NJD2
, O00216, P09002, Q0VAD3, Q9UNN7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: May 3, 2011
Last modified: October 29, 2014
This is version 137 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome Y
    Human chromosome Y: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3