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Aliases for TSPYL1 Gene

Aliases for TSPYL1 Gene

  • TSPY Like 1 2 3 5
  • TSPY-Like Protein 1 3 4
  • TSPYL 3 4
  • Testis-Specific Y-Encoded-Like Protein 1 3
  • TSPY-Like 2

External Ids for TSPYL1 Gene

Previous HGNC Symbols for TSPYL1 Gene


Previous GeneCards Identifiers for TSPYL1 Gene

  • GC06M116643
  • GC06M116704
  • GC06M114176
  • GC06M116599
  • GC06M116601

Summaries for TSPYL1 Gene

Entrez Gene Summary for TSPYL1 Gene

  • 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). [provided by RefSeq, Dec 2009]

CIViC summary for TSPYL1 Gene

GeneCards Summary for TSPYL1 Gene

TSPYL1 (TSPY Like 1) is a Protein Coding gene. Diseases associated with TSPYL1 include Sudden Infant Death With Dysgenesis Of The Testes Syndrome and Sudden Infant Death Syndrome. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Gene Ontology (GO) annotations related to this gene include enzyme binding. An important paralog of this gene is TSPYL6.

Gene Wiki entry for TSPYL1 Gene

Additional gene information for TSPYL1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TSPYL1 Gene

Genomics for TSPYL1 Gene

GeneHancer (GH) Regulatory Elements for TSPYL1 Gene

Promoters and enhancers for TSPYL1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J116276 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 661.6 +0.9 932 5.6 HDGF FOXA2 SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 TSPYL1 PIR59102 DSE CALHM6 TSPYL4 CALHM4 TRAPPC3L KRT18P22 CBX3P9 ENSG00000244158
GH06J116250 Promoter/Enhancer 1.6 Ensembl ENCODE 7.2 +26.6 26577 5.9 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B TSPYL4 DSE KPNA5 ENSG00000234117 TSPYL1 RSPH4A GC06M116250
GH06J116461 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE 5.9 -183.5 -183537 4.5 MXI1 MAX BACH1 BMI1 E2F1 CTBP1 ZNF316 POLR2A SCRT2 IKZF2 ENSG00000244158 CALHM6 DSE ENSG00000234117 TRAPPC3L RWDD1 TSPYL1 ZUP1 ENSG00000285446
GH06J116384 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 5.8 -109.3 -109339 9.7 PKNOX1 MZF1 BATF IRF4 ZNF366 ATF7 FOS ETV6 BCLAF1 IKZF2 DSE CALHM6 CALHM4 CBX3P9 KRT18P22 ENSG00000244158 ENSG00000234117 TRAPPC3L TSPYL1 CALHM5
GH06J116105 Enhancer 0.9 Ensembl ENCODE 5.6 +173.8 173804 1.9 SOX13 USF1 FOXA2 SAP130 MAX ARID4B CEBPG ZNF644 ZSCAN9 LCORL TSPYL4 TSPYL1 NT5DC1 NIP7P3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TSPYL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TSPYL1 gene promoter:
  • SRY
  • POU2F1a
  • POU2F1
  • AML1a
  • STAT5A
  • HOXA3
  • HOXA9
  • HOXA9B
  • Meis-1

Genomic Locations for TSPYL1 Gene

Genomic Locations for TSPYL1 Gene
5,259 bases
Minus strand
5,259 bases
Minus strand

Genomic View for TSPYL1 Gene

Genes around TSPYL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSPYL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSPYL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSPYL1 Gene

Proteins for TSPYL1 Gene

  • Protein details for TSPYL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Testis-specific Y-encoded-like protein 1
    Protein Accession:
    Secondary Accessions:
    • O75885
    • Q5TFE6

    Protein attributes for TSPYL1 Gene

    437 amino acids
    Molecular mass:
    49192 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TSPYL1 Gene

Post-translational modifications for TSPYL1 Gene

  • Ubiquitination at isoforms=256
  • Modification sites at PhosphoSitePlus

Other Protein References for TSPYL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TSPYL1 Gene

Domains & Families for TSPYL1 Gene

Gene Families for TSPYL1 Gene

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

Protein Domains for TSPYL1 Gene

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 TSPYL1: view

Function for TSPYL1 Gene

Gene Ontology (GO) - Molecular Function for TSPYL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019899 enzyme binding IPI 23382074
genes like me logo Genes that share ontologies with TSPYL1: view
genes like me logo Genes that share phenotypes with TSPYL1: view

Human Phenotype Ontology for TSPYL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for TSPYL1 Gene

miRTarBase miRNAs that target TSPYL1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for TSPYL1 Gene

Localization for TSPYL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSPYL1 Gene

Nucleus, nucleolus.

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 TSPYL1 gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TSPYL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IEA,IDA --
genes like me logo Genes that share ontologies with TSPYL1: view

Pathways & Interactions for TSPYL1 Gene

genes like me logo Genes that share pathways with TSPYL1: view

Pathways by source for TSPYL1 Gene

Gene Ontology (GO) - Biological Process for TSPYL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006334 nucleosome assembly IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with TSPYL1: view

No data available for SIGNOR curated interactions for TSPYL1 Gene

Drugs & Compounds for TSPYL1 Gene

No Compound Related Data Available

Transcripts for TSPYL1 Gene

mRNA/cDNA for TSPYL1 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TSPYL1 Gene

TSPY-like 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TSPYL1 Gene

No ASD Table

Relevant External Links for TSPYL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TSPYL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TSPYL1 Gene

Protein differential expression in normal tissues from HIPED for TSPYL1 Gene

This gene is overexpressed in Lung (42.5) and Adrenal (14.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TSPYL1 Gene

Protein tissue co-expression partners for TSPYL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TSPYL1 Gene:


SOURCE GeneReport for Unigene cluster for TSPYL1 Gene:


mRNA Expression by UniProt/SwissProt for TSPYL1 Gene:

Tissue specificity: Expressed in testis, ovary, liver, spleen, brain, kidney, prostate, lung, liver, and heart.

Evidence on tissue expression from TISSUES for TSPYL1 Gene

  • Nervous system(4.6)
  • Muscle(2.7)
  • Heart(2.5)
  • Kidney(2.5)
  • Stomach(2.4)
  • Liver(2.1)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TSPYL1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • mouth
  • neck
  • pharynx
  • tongue
  • vocal cord
  • bronchus
  • esophagus
  • heart
  • heart valve
  • lung
  • trachea
  • stomach
  • penis
  • testicle
  • urethra
  • vagina
  • vulva
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with TSPYL1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TSPYL1 Gene

Orthologs for TSPYL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TSPYL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TSPYL1 34 33
  • 99.24 (n)
(Canis familiaris)
Mammalia TSPYL1 34 33
  • 84.92 (n)
(Bos Taurus)
Mammalia TSPYL1 34 33
  • 80.76 (n)
(Mus musculus)
Mammalia Tspyl1 16 34 33
  • 78.18 (n)
(Rattus norvegicus)
Mammalia Tspyl1 33
  • 76.79 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 34 (a)
(Danio rerio)
Actinopterygii TSPY2 34
  • 21 (a)
fruit fly
(Drosophila melanogaster)
Insecta Set 34
  • 30 (a)
(Caenorhabditis elegans)
Secernentea spr-2 34
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9132 34
  • 26 (a)
Species where no ortholog for TSPYL1 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 TSPYL1 Gene

Gene Tree for TSPYL1 (if available)
Gene Tree for TSPYL1 (if available)
Evolutionary constrained regions (ECRs) for TSPYL1: view image

Paralogs for TSPYL1 Gene

(14) SIMAP similar genes for TSPYL1 Gene using alignment to 1 proteins:

  • TSYL1_HUMAN Pseudogenes for TSPYL1 Gene

genes like me logo Genes that share paralogs with TSPYL1: view

Variants for TSPYL1 Gene

Sequence variations from dbSNP and Humsavar for TSPYL1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000431105 -- 116,280,433(-) G/A upstream_transcript_variant
rs1000449847 -- 116,275,220(-) C/T 3_prime_UTR_variant
rs1000692317 -- 116,281,526(-) G/A upstream_transcript_variant
rs1001166525 -- 116,281,931(-) T/G upstream_transcript_variant
rs1001596711 -- 116,280,022(-) G/T 5_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for TSPYL1 Gene

Variant ID Type Subtype PubMed ID
nsv523972 CNV gain 19592680
esv3576211 CNV gain 25503493

Variation tolerance for TSPYL1 Gene

Residual Variation Intolerance Score: 82.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.74; 93.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TSPYL1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSPYL1 Gene

Disorders for TSPYL1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TSPYL1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards


  • Sudden infant death with dysgenesis of the testes syndrome (SIDDT) [MIM:608800]: Autosomal recessive disorder. Affected infants appear normal at birth, develop signs of visceroautonomic dysfunction early in life, and die before 12 months of age of abrupt cardiorespiratory arrest. Features included bradycardia, hypothermia, severe gastroesophageal reflux, laryngospasm, bronchospasm, and abnormal cardiorespiratory patterns during sleep. Genotypic males with SIDDT had fetal testicular dysgenesis and ambiguous genitalia, with findings such as intraabdominal testes, dysplastic testes, deficient fetal testosterone production, fusion and rugation of the gonadal sac, and partial development of the penile shaft. Female sexual development was normal. Affected infants had an unusual staccato cry, similar to the cry of a goat. {ECO:0000269 PubMed:15273283}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TSPYL1

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 TSPYL1: view

No data available for Genatlas for TSPYL1 Gene

Publications for TSPYL1 Gene

  1. Murine and human TSPYL genes: novel members of the TSPY-SET-NAP1L1 family. (PMID: 9730615) Vogel T … Schmidtke J (Cytogenetics and cell genetics 1998) 2 3 4 22 58
  2. Genetic investigation of the TSPYL1 gene in sudden infant death syndrome. (PMID: 16418600) Hering R … Riess O (Genetics in medicine : official journal of the American College of Medical Genetics 2006) 3 22 44 58
  3. Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. (PMID: 15273283) Puffenberger EG … Stephan DA (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 22 58
  4. Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. (PMID: 19463995) Vinci G … Bashamboo A (Fertility and sterility 2009) 3 44 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for TSPYL1 Gene

Sources for TSPYL1 Gene

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