Gene Gene information from NCBI Gene database.
Entrez ID 7259
Gene name TSPY like 1
Gene symbol TSPYL1
Synonyms (NCBI Gene)
TSPYL
Chromosome 6
Chromosome location 6q22.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
1205
miRTarBase ID miRNA Experiments Reference
MIRT004190 hsa-miR-197-3p Microarray 16822819
MIRT040692 hsa-miR-92b-3p CLASH 23622248
MIRT036870 hsa-miR-877-3p CLASH 23622248
MIRT036165 hsa-miR-320c CLASH 23622248
MIRT052748 hsa-miR-1260b CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA
GO:0003682 Function Chromatin binding IBA
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604714 12382 ENSG00000189241
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H0U9
Protein name Testis-specific Y-encoded-like protein 1 (TSPY-like protein 1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00956 NAP 272 411 Nucleosome assembly protein (NAP) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in testis, ovary, liver, spleen, brain, kidney, prostate, lung, liver, and heart. {ECO:0000269|PubMed:9730615}.
Sequence
MSGLDGVKRTTPLQTHSIIISDQVPSDQDAHQYLRLRDQSEATQVMAEPGEGGSETVALP
PPPPSEEGGVPQDAAGRGGTPQIRVVGGRGHVAIKAGQEEGQPPAEGLAAASVVMAADRS
LKKGVQGGEKALEICGAQRSASELTAGAEAEAEEVKTGKCATVSAAVAERESAEVVKEGL
AEKEVMEEQMEVEEQPPEGEEIEVAEEDRLEEEAREEEGPWPLHEALRMDPLEAIQLELD
TVNAQADRAFQQLEHKFGRMRRHYLERRNYIIQNIPGFWMTAFRNHPQLSAMIRGQDAEM
LRYITNLEVKELRHPRTGCKFKFFFRRNPYFRNKLIVKEYEVRSSGRVVSLSTPIIWRRG
HEPQSFIRRNQDLICSFFTWFSDHSLPESDKIAEIIKEDLWPNPLQYYLLR
EGVRRARRR
PLREPVEIPRPFGFQSG
Sequence length 437
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
11
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Sudden infant death-dysgenesis of the testes syndrome Pathogenic; Likely pathogenic rs2534376879, rs775957625, rs776649638 RCV000005716
RCV000993688
RCV001270429
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ehlers-Danlos syndrome, musculocontractural type 2 Benign rs56100880 RCV001733597
TSPYL1-related disorder Likely benign rs748503331, rs2534373570, rs140756663, rs149638466 RCV003963902
RCV003954381
RCV003930801
RCV003958269
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Azoospermia Associate 19463995, 22137496
Blindness Associate 19463995
Conversion Disorder Associate 19463995
Death Sudden Associate 15273283
Disorder of Sex Development 46 XY Associate 19463995
Gonadal Dysgenesis Associate 19463995
Infertility Male Associate 19463995
Oligospermia Associate 22137496
Prostatic Neoplasms Castration Resistant Associate 29027195
Sudden Infant Death with Dysgenesis of the Testes Syndrome Associate 15273283, 16418600