• Gene id: 7259

Gene Summary

• Gene Symbol: TSPYL1   Gene   UCSC   Ensembl
• Aliases: TSPYL
• Gene name: TSPY like 1
• Alternate names: testis-specific Y-encoded-like protein 1, TSPY-like protein 1,
• Gene location: 6q22.1 (116280116: 116274858)     Exons: 1     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [p
• OMIM: 604714

Protein Summary

• Protein general information: Q9H0U9  
  • Name: Testis specific Y encoded like protein 1 (TSPY like protein 1)
  • Length: 437  
  • Mass: 49,192
• Sequence:

  MSGLDGVKRTTPLQTHSIIISDQVPSDQDAHQYLRLRDQSEATQVMAEPGEGGSETVALPPPPPSEEGGVPQDAA
  GRGGTPQIRVVGGRGHVAIKAGQEEGQPPAEGLAAASVVMAADRSLKKGVQGGEKALEICGAQRSASELTAGAEA
  EAEEVKTGKCATVSAAVAERESAEVVKEGLAEKEVMEEQMEVEEQPPEGEEIEVAEEDRLEEEAREEEGPWPLHE
  ALRMDPLEAIQLELDTVNAQADRAFQQLEHKFGRMRRHYLERRNYIIQNIPGFWMTAFRNHPQLSAMIRGQDAEM
  LRYITNLEVKELRHPRTGCKFKFFFRRNPYFRNKLIVKEYEVRSSGRVVSLSTPIIWRRGHEPQSFIRRNQDLIC
  SFFTWFSDHSLPESDKIAEIIKEDLWPNPLQYYLLREGVRRARRRPLREPVEIPRPFGFQSG

• Structural information:
  • Interpro: IPR037231  IPR002164  
  • STRING: ENSP00000357597
• Other Databases: GeneCards:  TSPYL1  Malacards:  TSPYL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0006334	nucleosome assembly	IEA	biological process
GO:0008150	biological_process	ND	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0006334	nucleosome assembly	IEA	biological process
GO:0008150	biological_process	ND	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0019899	enzyme binding	IPI	molecular function

Diseases

Associated diseases	References
46,XY female, gonadal dysgenesis	MIK: 19463995
Azoospermia	MIK: 19463995
Male factor infertility	MIK: 22137496
46,XY female, gonadal dysgenesis	MIK: 19463995
Idiopathic azoospermia	MIK: 19463995
Male infertility	MIK: 19463995
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
19463995	46,XY female, gonadal dysgenesis, idiopathic azoospermia, male infertility	p.K320R, p.R89H		100 individuals with anomalies of testicular development	Male infertility
22137496	Idiopathic male infertility	TSPYL1 (c.419C>G (p.Ser140Cys), c.1098C>A (p.Phe366Leu), c.487G>A (p.Val163Ile))		210 (104 infertile men were selected with idiopathic nonobstructive azoospermia, cryptozoospermia, oligozoospermia, oligonecrozoospermia, and oligoasthenoteratozoospermia (OAT) syndrome, 106 control group men with proven paternity)	Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray