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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

  • TSPYL

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]

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 SIDS Susceptibility Pathways. GO annotations related to this gene include enzyme binding. An important paralog of this gene is TSPYL6.

Gene Wiki entry 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

Regulatory Elements for TSPYL1 Gene

Enhancers for TSPYL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F116276 1.1 ENCODE 11.6 +0.7 691 5.1 HDGF CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF207 FOS FAM26F TSPYL4 FAM26D TSPYL1 TRAPPC3L KRT18P22 CBX3P9 ENSG00000244158 ENSG00000234117 ZUFSP
GH06F116384 1.6 FANTOM5 Ensembl ENCODE 5.8 -109.2 -109240 9.9 PKNOX1 WRNIP1 ZNF2 RAD21 ZNF366 ETV6 FOS CREM ZNF263 YY2 DSE FAM26F FAM26D CBX3P9 KRT18P22 ENSG00000244158 ENSG00000234117 TRAPPC3L ENSG00000240050 TSPYL1
GH06F116250 1.1 ENCODE 7.2 +26.6 26578 5.9 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF143 SP3 ZHX2 REST TSPYL4 DSE ENSG00000240050 KPNA5 ENSG00000234117 TSPYL1 RSPH4A GC06M116250
GH06F116365 0.7 ENCODE 9.7 -86.1 -86117 1.3 PKNOX1 GFI1B HLF OVOL3 FEZF1 ZNF2 ZIC2 ZNF843 OSR2 CTBP1 CBX3P9 KRT18P22 ENSG00000244158 FAM26F TRAPPC3L ENSG00000234117 TSPYL1 PIR33476 GC06M116282 GC06M116283
GH06F116461 1.1 FANTOM5 ENCODE 5.9 -183.5 -183538 4.5 MXI1 TEAD4 ASH2L MAX BMI1 E2F1 ZNF316 CTBP1 POLR2A SCRT2 FAM26F DSE ENSG00000234117 TRAPPC3L ENSG00000240050 RWDD1 TSPYL1 ZUFSP ENSG00000244158
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TSPYL1 on UCSC Golden Path with GeneCards custom track

Promoters for TSPYL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001225239 1717 5201 HDGF CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 ZNF207

Genomic Location for TSPYL1 Gene

Chromosome:
6
Start:
116,274,859 bp from pter
End:
116,280,117 bp from pter
Size:
5,259 bases
Orientation:
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:
    Q9H0U9-TSYL1_HUMAN
    Recommended name:
    Testis-specific Y-encoded-like protein 1
    Protein Accession:
    Q9H0U9
    Secondary Accessions:
    • O75885
    • Q5TFE6

    Protein attributes for TSPYL1 Gene

    Size:
    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 Lys 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

Protein Domains for TSPYL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H0U9

UniProtKB/Swiss-Prot:

TSYL1_HUMAN :
  • Belongs to the nucleosome assembly protein (NAP) family.
Family:
  • Belongs to the nucleosome assembly protein (NAP) family.
genes like me logo Genes that share domains with TSPYL1: view

No data available for Gene Families for TSPYL1 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
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

Gene Ontology (GO) - Cellular Components for TSPYL1 Gene

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

Pathways & Interactions for TSPYL1 Gene

SuperPathways for TSPYL1 Gene

SuperPathway Contained pathways
1 SIDS Susceptibility Pathways
genes like me logo Genes that share pathways with TSPYL1: view

Pathways by source for TSPYL1 Gene

1 BioSystems pathway 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

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for TSPYL1 Gene

GeneLoc Exon Structure for
TSPYL1
ECgene alternative splicing isoforms for
TSPYL1

Expression for TSPYL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, PaxDb, and MOPED for TSPYL1 Gene



Protein tissue co-expression partners for TSPYL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TSPYL1 Gene:

TSPYL1

SOURCE GeneReport for Unigene cluster for TSPYL1 Gene:

Hs.744978

mRNA Expression by UniProt/SwissProt for TSPYL1 Gene:

Q9H0U9-TSYL1_HUMAN
Tissue specificity: Expressed in testis, ovary, liver, spleen, brain, kidney, prostate, lung, liver, and heart.
genes like me logo Genes that share expression patterns with TSPYL1: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia TSPYL1 34 35
  • 99.24 (n)
dog
(Canis familiaris)
Mammalia TSPYL1 34 35
  • 84.92 (n)
cow
(Bos Taurus)
Mammalia TSPYL1 34 35
  • 80.76 (n)
mouse
(Mus musculus)
Mammalia Tspyl1 34 16 35
  • 78.18 (n)
rat
(Rattus norvegicus)
Mammalia Tspyl1 34
  • 76.79 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 34 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii TSPY2 35
  • 21 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Set 35
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea spr-2 35
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9132 35
  • 26 (a)
OneToMany
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

ENSEMBL:
Gene Tree for TSPYL1 (if available)
TreeFam:
Gene Tree for TSPYL1 (if available)

Paralogs for TSPYL1 Gene

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

Pseudogenes.org 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 Sequence Context AA Info Type
rs1045182 -- 116,277,312(-) ATGGA(A/G)AAATA intron-variant, utr-variant-3-prime
rs10456904 -- 116,277,630(+) CAAAT(A/G)TTTCT intron-variant, utr-variant-3-prime
rs10484837 -- 116,277,130(-) ACTTA(C/T)TGTGA intron-variant, utr-variant-3-prime
rs10484838 -- 116,276,561(-) AAATT(C/G)ATGTT intron-variant, utr-variant-3-prime
rs111282581 -- 116,277,779(+) CGCCT(C/G)TAGTC intron-variant, utr-variant-3-prime

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)

Relevant External Links for TSPYL1 Gene

Human Gene Mutation Database (HGMD)
TSPYL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSPYL1

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: OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sudden infant death with dysgenesis of the testes syndrome
  • siddt
sudden infant death syndrome
  • cot death
spermatocytoma
  • spermatocytic seminoma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TSYL1_HUMAN
  • 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.

Relevant External Links for TSPYL1

Genetic Association Database (GAD)
TSPYL1
Human Genome Epidemiology (HuGE) Navigator
TSPYL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TSPYL1
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. (Cytogenet. Cell Genet. 1998) 2 3 4 22 64
  2. Genetic investigation of the TSPYL1 gene in sudden infant death syndrome. (PMID: 16418600) Hering R. … Riess O. (Genet. Med. 2006) 3 22 46 64
  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 E.G. … Stephan D.A. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 22 64
  4. Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. (PMID: 19463995) Vinci G. … Bashamboo A. (Fertil. Steril. 2009) 3 46 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for TSPYL1 Gene

Sources for TSPYL1 Gene

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