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Aliases for TSPY1 Gene

Aliases for TSPY1 Gene

  • Testis Specific Protein, Y-Linked 1 2 3
  • Cancer/Testis Antigen 78 2 3 4
  • CT78 3 4
  • TSPY 3 4
  • Testis Specific Protein, Y-Linked 2
  • PJA923 3
  • DYS14 3

External Ids for TSPY1 Gene

Previous HGNC Symbols for TSPY1 Gene

  • TSPY

Previous GeneCards Identifiers for TSPY1 Gene

  • GC0YP008919
  • GC0YP009898
  • GC0YP009304

Summaries for TSPY1 Gene

Entrez Gene Summary for TSPY1 Gene

  • The protein encoded by this gene is found only in testicular tissue and may be involved in spermatogenesis. Approximately 35 copies of this gene are present in humans, but only a single, nonfunctional orthologous gene is found in mouse. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

GeneCards Summary for TSPY1 Gene

TSPY1 (Testis Specific Protein, Y-Linked 1) is a Protein Coding gene. Diseases associated with TSPY1 include gonadoblastoma and y chromosome detection. An important paralog of this gene is TSPY4.

UniProtKB/Swiss-Prot for TSPY1 Gene

  • May be involved in sperm differentiation and proliferation.

Gene Wiki entry for TSPY1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TSPY1 Gene

Genomics for TSPY1 Gene

Regulatory Elements for TSPY1 Gene

Genomic Location for TSPY1 Gene

9,466,955 bp from pter
9,490,081 bp from pter
23,127 bases
Plus strand

Genomic View for TSPY1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TSPY1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSPY1 Gene

Proteins for TSPY1 Gene

  • Protein details for TSPY1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Testis-specific Y-encoded protein 1
    Protein Accession:
    Secondary Accessions:
    • A6NJD2
    • O00216
    • P09002
    • Q0VAD3
    • Q9UNN7

    Protein attributes for TSPY1 Gene

    308 amino acids
    Molecular mass:
    35012 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAA36570.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAA61238.1; Type=Miscellaneous discrepancy; Note=Probable unspliced transcript.; Evidence={ECO:0000305}; Sequence=CAA29640.1; Type=Miscellaneous discrepancy; Note=Sequence of unknown origin inserted in the coding sequence.; Evidence={ECO:0000305}; Sequence=X74029; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Alternative splice isoforms for TSPY1 Gene


neXtProt entry for TSPY1 Gene

Proteomics data for TSPY1 Gene at MOPED

Post-translational modifications for TSPY1 Gene

Other Protein References for TSPY1 Gene

Antibody Products

No data available for DME Specific Peptides for TSPY1 Gene

Domains & Families for TSPY1 Gene

Protein Domains for TSPY1 Gene

Suggested Antigen Peptide Sequences for TSPY1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the nucleosome assembly protein (NAP) family.
  • Belongs to the nucleosome assembly protein (NAP) family.
genes like me logo Genes that share domains with TSPY1: view

No data available for Gene Families for TSPY1 Gene

Function for TSPY1 Gene

Molecular function for TSPY1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in sperm differentiation and proliferation.
UniProtKB/Swiss-Prot Induction:
Up-regulated by androgen in a prostate cancer cell line.

Gene Ontology (GO) - Molecular Function for TSPY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 18649364
genes like me logo Genes that share ontologies with TSPY1: view

Phenotypes for TSPY1 Gene

MGI mutant phenotypes for TSPY1:
inferred from 2 alleles
GenomeRNAi human phenotypes for TSPY1:
genes like me logo Genes that share phenotypes with TSPY1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TSPY1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TSPY1 Gene

Localization for TSPY1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSPY1 Gene

Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Also found in nucleus.

Subcellular locations from

Jensen Localization Image for TSPY1 Gene COMPARTMENTS Subcellular localization image for TSPY1 gene
Compartment Confidence
nucleus 3

Gene Ontology (GO) - Cellular Components for TSPY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with TSPY1: view

Pathways & Interactions for TSPY1 Gene

SuperPathways for TSPY1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TSPY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006334 nucleosome assembly IEA --
GO:0007283 spermatogenesis IEA --
GO:0007506 gonadal mesoderm development IEA --
GO:0007548 sex differentiation TAS 1284595
GO:0008283 cell proliferation TAS 8923009
genes like me logo Genes that share ontologies with TSPY1: view

No data available for Pathways by source and SIGNOR curated interactions for TSPY1 Gene

Drugs & Compounds for TSPY1 Gene

(1) Additional Compounds for TSPY1 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TSPY1: view

Transcripts for TSPY1 Gene

mRNA/cDNA for TSPY1 Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TSPY1 Gene

Testis specific protein, Y-linked 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TSPY1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TSPY1 Gene

No ASD Table

Relevant External Links for TSPY1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TSPY1 Gene

mRNA expression in normal human tissues for TSPY1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TSPY1 Gene

This gene is overexpressed in Testis (x53.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TSPY1 Gene

SOURCE GeneReport for Unigene cluster for TSPY1 Gene Hs.556121

mRNA Expression by UniProt/SwissProt for TSPY1 Gene

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.
genes like me logo Genes that share expression patterns with TSPY1: view

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for TSPY1 Gene

Orthologs for TSPY1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TSPY1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LOC101059018 35
  • 88.62 (n)
  • 76.9 (a)
  • 96 (a)
(Mus musculus)
Mammalia Tspy-ps 16
(Bos Taurus)
Mammalia -- 36
  • 43 (a)
-- 36
  • 35 (a)
-- 36
  • 34 (a)
-- 36
  • 37 (a)
-- 36
  • 33 (a)
-- 36
  • 31 (a)
-- 36
  • 28 (a)
-- 36
  • 35 (a)
-- 36
  • 27 (a)
-- 36
  • 40 (a)
TSPY-M2 36
  • 35 (a)
TSPY-M2 36
  • 41 (a)
TSPY-M2 36
  • 40 (a)
(Canis familiaris)
Mammalia -- 36
  • 25 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 25 (a)
(Danio rerio)
Actinopterygii TSPY2 36
  • 16 (a)
fruit fly
(Drosophila melanogaster)
Insecta Set 36
  • 26 (a)
(Caenorhabditis elegans)
Secernentea spr-2 36
  • 19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9132 36
  • 19 (a)
Species with no ortholog for TSPY1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TSPY1 Gene

Gene Tree for TSPY1 (if available)
Gene Tree for TSPY1 (if available)

Paralogs for TSPY1 Gene

Paralogs for TSPY1 Gene

(16) SIMAP similar genes for TSPY1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TSPY1: view

Variants for TSPY1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TSPY1 Gene

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

Sequence variations from dbSNP and Humsavar for TSPY1 Gene

SNP ID Clin Chr 0Y pos Sequence Context AA Info Type MAF
rs4113857 -- 9,468,882(+) GATGC(C/G)CAGTA intron-variant
rs80126164 -- 9,469,827(+) TGTTT(A/T)TCCAC downstream-variant-500B
rs111894586 -- 9,469,752(+) GGATG(A/T)GTGAC downstream-variant-500B
rs112317775 -- 9,469,787(+) TGTGT(C/G)TTTGT downstream-variant-500B
rs199532657 -- 9,468,442(+) AGTGG(A/G)AGGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TSPY1 Gene

Variant ID Type Subtype PubMed ID
nsv7473 OTHER Inversion 18451855
nsv469840 CNV Loss 16826518
nsv471608 CNV Gain+Loss 15918152

Relevant External Links for TSPY1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Variation tolerance for TSPY1 Gene

Disorders for TSPY1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for TSPY1 Gene - From: Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
y chromosome detection
partial deletion of y
  • partial deletion of chromosome y
sudden infant death with dysgenesis of the testes syndrome
  • siddt
  • seminoma, pure
- elite association
Search TSPY1 in MalaCards View complete list of genes associated with diseases


  • Note=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. {ECO:0000269 PubMed:10090875, ECO:0000269 PubMed:10773691, ECO:0000269 PubMed:11173850}.

Relevant External Links for TSPY1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TSPY1: view

No data available for Genatlas for TSPY1 Gene

Publications for TSPY1 Gene

  1. SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome. (PMID: 19188812) Bianco B. … Verreschi I.T. (Int. J. Gynecol. Pathol. 2009) 23 67
  2. A case of ovine female XY sex reversal syndrome not related to anomalies in the sex-determining region Y (SRY). (PMID: 19864878) Ferrer L.M. … Lacasta D. (Cytogenet. Genome Res. 2009) 23 67
  3. A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma. (PMID: 19513096) Hersmus R. … Looijenga L.H. (Eur. J. Hum. Genet. 2009) 23 67
  4. TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages. (PMID: 19773397) Giachini C. … Krausz C. (J. Clin. Endocrinol. Metab. 2009) 23 67
  5. [Preliminary application of MLPA-based array in detecting Y chromosome abnormalities]. (PMID: 19073581) Zhou D.W. … Ren Z.R. (Yi Chuan 2008) 23 67

Products for TSPY1 Gene

Sources for TSPY1 Gene

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