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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TSPYL1 Gene

protein-coding   GIFtS: 55
GCID: GC06M116601

TSPY-Like 1

(Previous name: TSPY-like)
(Previous symbol: TSPYL)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
TSPY-Like 11 2     Testis-Specific Y-Encoded-Like Protein 12
TSPYL1 2 3 5     Testis-Specific-Like Protein, Y Encoded2
TSPY-Like Protein 12 3     SIDDT5
TSPY-like1     

External Ids:    HGNC: 123821   Entrez Gene: 72592   Ensembl: ENSG000001892417   OMIM: 6047145   UniProtKB: Q9H0U93   

Export aliases for TSPYL1 gene to outside databases

Previous GC identifers: GC06M116643 GC06M116704 GC06M114176 GC06M116599


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. GO annotations related to this gene include molecular_function. An important paralog of this gene is SET.

Gene Wiki entry for TSPYL1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TSPYL1 gene promoter:
         HOXA9B   HOXA9   HOXA3   AML1a   STAT5A   SRY   POU2F1   POU2F1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTSPYL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TSPYL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TSPYL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q22.1   Ensembl cytogenetic band:  6q22.1   HGNC cytogenetic band: 6q22.1

TSPYL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TSPYL1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M116601:  view genomic region     (about GC identifiers)

Start:
116,596,022 bp from pter      End:
116,601,280 bp from pter
Size:
5,259 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TSYL1_HUMAN, Q9H0U9 (See protein sequence)
Recommended Name: Testis-specific Y-encoded-like protein 1  
Size: 437 amino acids; 49192 Da
Subcellular location: Nucleus, nucleolus
Secondary accessions: O75885 Q5TFE6

Explore the universe of human proteins at neXtProt for TSPYL1: NX_Q9H0U9

Explore proteomics data for TSPYL1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H0U9

  • TSPYL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TSPYL1 Protein Expression
    REFSEQ proteins: NP_003300.1  
    ENSEMBL proteins: 
     ENSP00000357597  

    Human Recombinant Protein Products for TSPYL1: 
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    Novus Biologicals TSPYL1 Lysates
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    Cloud-Clone Corp. Proteins for TSPYL1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    TSPYL1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR002164 NAP_family

    Graphical View of Domain Structure for InterPro Entry Q9H0U9

    ProtoNet protein and cluster: Q9H0U9

    1 Blocks protein domain: IPB002164 Nucleosome assembly protein (NAP)

    UniProtKB/Swiss-Prot: TSYL1_HUMAN, Q9H0U9
    Similarity: Belongs to the nucleosome assembly protein (NAP) family


    TSPYL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    TSPYL1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TSPYL1:
     Increased number of cells in m 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TSPYL1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TSPYL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TSPYL1 
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    miRNA
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    miRTarBase miRNAs that target TSPYL1:
    hsa-mir-197 (MIRT004190)

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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate TSPYL1 (see all 16):
    hsa-miR-579 hsa-miR-148b hsa-miR-3133 hsa-miR-548l hsa-miR-570 hsa-miR-186 hsa-miR-3148 hsa-miR-148a
    SwitchGear 3'UTR luciferase reporter plasmidTSPYL1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TSPYL1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways


    1 BioSystems Pathway for TSPYL1
        SIDS Susceptibility Pathways


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TSPYL1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/9 Interacting proteins for TSPYL1 (Q9H0U93 ENSP000003575974) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLX4Q8IY923, ENSP000002940084I2D: score=2 STRING: ENSP00000294008
    CTNNA1P352213I2D: score=2 
    HAP1P542573I2D: score=2 
    JUNP054123I2D: score=2 
    DVL3Q929973I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006334nucleosome assembly IEA--
    GO:0008150biological_process ND--

    TSPYL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TSPYL1 (TSYL1)

    Search CenterWatch for drugs/clinical trials and news about TSPYL1 / TSYL1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TSPYL1 gene: 
    NM_003309.3  

    Unigene Cluster for TSPYL1:

    TSPY-like 1
    Hs.744978  [show with all ESTs]
    Unigene Representative Sequence: BC048969
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000368608(uc003pwp.4)
    miRNA
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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate TSPYL1 (see all 16):
    hsa-miR-579 hsa-miR-148b hsa-miR-3133 hsa-miR-548l hsa-miR-570 hsa-miR-186 hsa-miR-3148 hsa-miR-148a
    SwitchGear 3'UTR luciferase reporter plasmidTSPYL1 3' UTR sequence
    Inhib. RNA
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TSPYL1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TSPYL1

    Additional mRNA sequence: 

    AJ420580.1 AK026849.1 AL136629.1 BC048969.1 BC068554.1 

    4 DOTS entries:

    DT.317026  DT.75130090  DT.100798448  DT.100798452 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TSPYL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTTCTGCT
    TSPYL1 Expression
    About this image


    See TSPYL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TSPYL1

    SOURCE GeneReport for Unigene cluster: Hs.744978

    UniProtKB/Swiss-Prot: TSYL1_HUMAN, Q9H0U9
    Tissue specificity: Expressed in testis, ovary, liver, spleen, brain, kidney, prostate, lung, liver, and heart

        SABiosciences Custom PCR Arrays for TSPYL1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSPYL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TSPYL1 gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tspyl11 , 5 testis-specific protein, Y-encoded-like 11, 5 74.48(n)1
    69.81(a)1
      10 (18.85 cM)5
    221101  NM_009433.31  NP_033459.11 
     342821905 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    29(a)
    1 → many
    2(89264771-89274104)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:664301 zgc:66430 46.6(n)
    36.13(a)
      337214  NM_200055.1  NP_956349.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Set6
    Set
    28(a)
    1 → many
    3R(11089257-11090975)
    worm
    (Caenorhabditis elegans)
    Secernentea spr-26
    Suppressor of presenilin-2
    24(a)
    1 → many
    IV(8891470-8892747)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TSPYL1 gene
    SET2  TSPY6P2  TSPYL62  TSPY42  TSPY12  TSPY82  TSPYL22  TSPYL52  
    TSPYL42  TSPY102  TSPY22  TSPY32  
    14 SIMAP similar genes for TSPYL1 using alignment to 1 protein entry:     TSYL1_HUMAN:
    TSPYL    LOC728395    TSPYL6    TSPY8    TSPYL4    TSPY26P
    TSPY6P    TSPY10    TSPY3    TSPY4    TSPY1    TSPY2
    TSPYL2    TSPYL5

    TSPYL1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TSPYL1
    PGOHUM00000242463


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/203 SNPs in TSPYL1 are shown (see all 203)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1903106291,2
    --116596877(+) GGTGGC/TGCATG 1 -- ds50010--------
    rs94888831,2
    C--116596923(+) agaatC/Tgcttg 1 -- ds50010--------
    rs1930515941,2
    --116596957(+) TGAGCA/GGAAGC 1 -- ds50010--------
    rs1387081151,2
    --116596974(+) TGAGCC/TGAGAT 1 -- ds50010--------
    rs752177111,2
    C,F--116596975(+) GAGCCA/GAGATG 1 -- ds50012Minor allele frequency- G:0.33WA CSA 3
    rs1847268151,2
    --116597008(+) GCAACA/TAGAGC 1 -- ds50010--------
    rs1879984271,2
    --116597009(+) CAACAA/GGAGCA 1 -- ds50010--------
    rs563594311,2
    C,F--116597235(+) ACCTTC/ATTTTT 1 -- ds50013Minor allele frequency- A:0.08WA CSA 122
    rs1808203881,2
    --116597494(+) TCAATA/CTGAAA 1 -- ut310--------
    rs1851775201,2
    --116597501(+) GAAAAA/TAATTG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for TSPYL1 (116596022 - 116601280 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TSPYL1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv523972CNV Gain19592680


    Human Gene Mutation Database (HGMD): TSPYL1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604714   
    OMIM disorders: 608800  
    UniProtKB/Swiss-Prot: TSYL1_HUMAN, Q9H0U9
  • 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. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 11 diseases for TSPYL1:    About MalaCards
    sudden infant death with dysgenesis of the testes syndrome    sudden infant death syndrome    male infertility    intrahepatic cholangiocarcinoma
    azoospermia    cholangiocarcinoma    infertility    acute myeloid leukemia
    myeloid leukemia    leukemia    prostatitis


    TSPYL1 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for TSPYL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sudden infant death syndrome 71.9 4 16418600 (2), 15273283 (1), 15833274 (1)
    congenital malformation 58 5 16418600 (2), 15833274 (2), 15273283 (1)
    death sudden 50 1 16418600 (1)

    Genetic Association Database (GAD): TSPYL1
    Human Genome Epidemiology (HuGE) Navigator: TSPYL1 (2 documents)

    Export disorders for TSPYL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TSPYL1 gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with TSPYL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Murine and human TSPYL genes: novel members of the TSPY-SET-NAP1L1 family. (PubMed id 9730615)1, 2, 3, 9 Vogel T....Schmidtke J. (1998)
    2. Genetic investigation of the TSPYL1 gene in sudden infant death syndrome. (PubMed id 16418600)1, 4, 9 Hering R....Riess O. (2006)
    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. (PubMed id 15273283)1, 2, 9 Puffenberger E.G.... Stephan D.A. (2004)
    4. Mutations in the TSPYL1 gene associated with 46,XY di sorder of sex development and male infertility. (PubMed id 19463995)1, 4 Vinci G....Bashamboo A. (2009)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Functional proteomic analysis of human nucleolus. (PubMed id 12429849)1, 2 Scherl A.... Diaz J.-J. (2002)
    7. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    8. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    9. A high-confidence interaction map identifies SIRT1 as a mediator of acetylation of USP22 and the SAGA coactivator complex. (PubMed id 23382074)1 Armour S.M....Sinclair D.A. (2013)
    10. The SOX2-interactome in brain cancer cells identifies the requirement of MSI2 and USP9X for the growth of brain tumor cells. (PubMed id 23667531)1 Cox J.L....Rizzino A. (2013)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7259 HGNC: 12382 Ensembl:ENSG00000189241 euGenes: HUgn7259 ECgene: TSPYL1
    H-InvDB: TSPYL1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    NameDescription
    PharmGKB entry for TSPYL1 Pharmacogenomics, SNPs, Pathways

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