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Aliases for TSPY1 Gene

Aliases for TSPY1 Gene

  • Testis Specific Protein, Y-Linked 1 2 3 5
  • Cancer/Testis Antigen 78 2 3 4
  • TSPY 3 4
  • CT78 3 4
  • Testis-Specific Y-Encoded Protein 1 3
  • 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. Many functional paralogs and pseudogenes of this gene are present in a cluster in humans, but only a single, nonfunctional orthologous gene is found in mouse. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

GeneCards Summary for TSPY1 Gene

TSPY1 (Testis Specific Protein, Y-Linked 1) is a Protein Coding gene. Diseases associated with TSPY1 include Gonadoblastoma and Testicular Seminoma. An important paralog of this gene is TSPY10.

UniProtKB/Swiss-Prot for TSPY1 Gene

  • May be involved in sperm differentiation and proliferation.

Gene Wiki entry for TSPY1 Gene

Additional gene information for TSPY1 Gene

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

Genomics for TSPY1 Gene

GeneHancer (GH) Regulatory Elements for TSPY1 Gene

Top Transcription factor binding sites by QIAGEN in the TSPY1 gene promoter:

Genomic Locations for TSPY1 Gene

Genomic Locations for TSPY1 Gene
2,795 bases
Plus strand

Genomic View for TSPY1 Gene

Genes around TSPY1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSPY1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for TSPY1 Gene

Other Protein References for TSPY1 Gene

No data available for DME Specific Peptides for TSPY1 Gene

Domains & Families for TSPY1 Gene

Gene Families for TSPY1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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

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

GenomeRNAi human phenotypes for TSPY1:
genes like me logo Genes that share phenotypes with TSPY1: view

Human Phenotype Ontology for TSPY1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TSPY1 Gene

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:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis TAS,IEA --
GO:0007506 gonadal mesoderm development IEA --
GO:0007548 sex differentiation TAS 1284595
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

(4) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(2) 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

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

NURSA nuclear receptor signaling pathways regulating expression of TSPY1 Gene:


SOURCE GeneReport for Unigene cluster for TSPY1 Gene:


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.

Phenotype-based relationships between genes and organs from Gene ORGANizer for TSPY1 Gene

Germ Layers:
  • mesoderm
  • reproductive
  • testicle
genes like me logo Genes that share expression patterns with TSPY1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Evidence on tissue expression from TISSUES 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 TSPY 34
  • 96 (a)
LOC101059018 33
  • 88.62 (n)
(Bos Taurus)
Mammalia -- 34
  • 43 (a)
-- 34
  • 40 (a)
-- 34
  • 37 (a)
-- 34
  • 35 (a)
-- 34
  • 35 (a)
TSPY-M2 34 34 34
  • 35 (a)
-- 34
  • 34 (a)
-- 34
  • 33 (a)
-- 34
  • 31 (a)
-- 34
  • 28 (a)
-- 34
  • 27 (a)
(Canis familiaris)
Mammalia -- 34
  • 25 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 25 (a)
(Danio rerio)
Actinopterygii TSPY2 34
  • 16 (a)
fruit fly
(Drosophila melanogaster)
Insecta Set 34
  • 26 (a)
(Caenorhabditis elegans)
Secernentea spr-2 34
  • 19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9132 34
  • 19 (a)
Species where no ortholog for TSPY1 was found in the sources mined by GeneCards:
  • 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)
  • mouse (Mus musculus)
  • 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.
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.

Sequence variations from dbSNP and Humsavar for TSPY1 Gene

SNP ID Clin Chr 0Y pos Variation AA Info Type
rs111894586 -- 9,469,752(+) T/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs112317775 -- 9,469,787(+) C/G/T downstream_transcript_variant
rs199532657 -- 9,468,442(+) A/G intron_variant
rs200389251 -- 9,467,336(+) G/A coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant
rs201424738 -- 9,467,365(+) T/G coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv1077608 CNV duplication 25765185
nsv1115926 CNV duplication 24896259
nsv1151272 CNV duplication 26484159
nsv7473 OTHER inversion 18451855
nsv953735 CNV duplication 24416366

Additional Variant Information for TSPY1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
  • gby
testicular seminoma
  • seminoma of testis
partial deletion of y
  • partial deletion of chromosome y
  • seminoma, pure
sudden infant death with dysgenesis of the testes syndrome
  • siddt
- elite association - COSMIC cancer census association via MalaCards
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}.

Additional Disease Information for TSPY1

Genetic Association Database
Human Genome Epidemiology 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. TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages. (PMID: 19773397) Giachini C … Krausz C (The Journal of clinical endocrinology and metabolism 2009) 3 22 44 58
  2. Expression, alternative splicing and haplotype analysis of transcribed testis specific protein (TSPY) genes. (PMID: 12527192) Krick R … Arnemann J (Gene 2003) 3 4 22 58
  3. Expression analysis of thirty one Y chromosome genes in human prostate cancer. (PMID: 10747295) Lau YF … Zhang J (Molecular carcinogenesis 2000) 3 4 22 58
  4. Gonadoblastoma, testicular and prostate cancers, and the TSPY gene. (PMID: 10090875) Lau YF (American journal of human genetics 1999) 3 4 22 58
  5. Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues. (PMID: 8923009) Schnieders F … Schmidtke J (Human molecular genetics 1996) 3 4 22 58

Products for TSPY1 Gene

Sources for TSPY1 Gene

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