Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

TSPYL1 Gene

protein-coding   GIFtS: 54
GCID: GC06M116601

TSPY-like 1

(Previous name: TSPY-like )
(Previous symbol: TSPYL)
 Explore 12 diseases affiliated with
TSPYL1 via our new
 Human Malady Compendium 
Biological research products
for TSPYL1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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:
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)

Gene Wiki entry for TSPYL1


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H0U9

  • TSPYL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003300.1  
    ENSEMBL proteins: 
     ENSP00000357597  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: TSPYL1
    OriGene Protein Over-expression Lysate: TSPYL1
    OriGene Custom Protein Services for TSPYL1 
    GenScript Custom Purified and Recombinant Proteins Services for TSPYL1
    Novus Biologicals TSPYL1 Proteins
    Novus Biologicals TSPYL1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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



    TSPYL1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies: TSPYL1
    OriGene Custom Antibody Services for TSPYL1 
    GenScript Custom Superior Antibodies Services for TSPYL1
    Novus Biologicals TSPYL1 Antibodies
    Abcam antibodies for TSPYL1 
    Uscn Antibodies for TSPYL1
    ThermoFisher Antibody for TSPYL1

    Assay Products for TSPYL1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TSPYL1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for TSPYL1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TSPYL1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002164 NAP_family

    Graphical View of Domain Structure for InterPro Entry Q9H0U9

    ProtoNet protein and cluster: Q9H0U9

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

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
    Products:
        
    miRTarBase miRNAs that target TSPYL1:
    hsa-mir-197 (MIRT004190)

    OriGene 3'-UTR Clone: TSPYL1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TSPYL1
    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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TSPYL1 (see all 7)
    OriGene shRNA RFP: TSPYL1
    OriGene siRNA: TSPYL1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TSPYL1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TSPYL1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TSPYL1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TSPYL1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: TSPYL1 (NM_003309)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TSPYL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TSPYL1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TSPYL1
    Search LifeMap BioReagents cell lines for TSPYL1

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSPYL1

    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


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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways1.00


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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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.458358  [show with all ESTs]
    Unigene Representative Sequence: BC048969
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000368608(uc003pwp.4)

    miRNA
    Products:
         
    OriGene 3'-UTR Clone: TSPYL1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TSPYL1
    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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TSPYL1 (see all 7)
    OriGene shRNA RFP: TSPYL1
    OriGene siRNA: TSPYL1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TSPYL1
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TSPYL1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TSPYL1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: TSPYL1 (NM_003309)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TSPYL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TSPYL1 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TSPYL1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TSPYL1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TSPYL1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TSPYL1

    Additional cDNA sequence: 

    AF042181.1 AJ420580.1 AK026849.1 AK096882.1 AL136629.1 BC048969.1 BC068554.1 CR533535.1 

    11 DOTS entries:

    DT.317026  DT.75130090  DT.100798448  DT.100798450  DT.95232643  DT.100798452  DT.95115225  DT.91743617 
    DT.100798449  DT.100798455  DT.86854450 

    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
    CGAP TAG: TTGTTCTGCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

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

    SOURCE GeneReport for Unigene cluster: Hs.458358

    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
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TSPYL1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TSPYL1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TSPYL1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TSPYL1
    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 eukaryotes.

    Orthologs for TSPYL1 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    39(a)
    1 → many
    2(89265460-89270074)
    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
    21(a)
    1 → many
    IV(8891457-8892734)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NRP26
    NRP16
    template-activating factor I
    26(a)
    25(a)
    many ↔ many
    many ↔ many
    1(6481113-6483596)
    1(28017584-28020049)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    SET, putative, expressed
    NAP domain containing protein, putative, expressed...
    29(a)
    25(a)
    many ↔ many
    many ↔ many
    2(22145563-22150173)
    4(22758069-22761770)


    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  TSPYL62  TSPY42  TSPY12  TSPY82  TSPYL22  TSPYL52  TSPYL42  
    TSPY102  TSPY22  TSPY32  
    13 SIMAP similar genes for TSPYL1 using alignment to 1 protein entry:     TSYL1_HUMAN:
    TSPYL    LOC728395    TSPYL6    TSPY8    TSPYL4    TSPY26P
    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, UniProtKB, 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

    10/157 NCBI SNPs in TSPYL1 are shown (see all 157    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs94888831,2
    --114175807(+) agaatC/Tgcttg 1 -- ds50010--------
    rs752177111,2
    C,--114175859(+) GAGCCA/GAGATG 1 -- ds50012Minor allele frequency- G:0.33WA CSA 3
    rs563594311,2
    C,F,--114176119(+) ACCTTC/ATTTTT 1 -- ds50013Minor allele frequency- A:0.08WA CSA 122
    rs24987021,2
    --114176859(-) gccacC/Tgcacc 1 -- ut311Minor allele frequency- T:0.50CSA 2
    rs1133373141,2
    C,--114176926(+) GAGATG/CGAGAC 1 -- ut311Minor allele frequency- C:0.50WA 2
    rs737677091,2
    C,F,--114177570(+) TACAGA/TTGAGA 1 -- ut314Minor allele frequency- T:0.05WA CSA NA 242
    rs780626761,2
    --114177730(+) ACTACA/GTGGAA 1 -- ut310--------
    rs31802261,2
    C,H--114178055(-) TGCTAG/AATTTC 1 -- ut312Minor allele frequency- A:0.00NS NA 284
    rs735489201,2
    C,--114178084(+) TTACCA/GTCATG 1 -- ut312Minor allele frequency- G:0.07WA 120
    rs786760831,2
    C,F,--114178437(+) AGAATA/GTCTGT 1 -- ut311Minor allele frequency- G:0.07WA 118

    HapMap Linkage Disequilibrium report for TSPYL1 (116596022 - 116601280 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TSPYL1: --
    Human Gene Mutation Database (HGMD): TSPYL1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TSPYL1
    DNA2.0 Custom Variant and Variant Library Synthesis for TSPYL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TSPYL1 for disorders           About GeneDecksing

    OMIM gene information: 604714   
    OMIM disorders: 608800  
    UniProtKB/Swiss-Prot: TSYL1_HUMAN, Q9H0U9
  • Defects in TSPYL1 are the cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT)
  • [MIM:608800]. SIDDT is an 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

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

    3 Novoseek 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)

    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 27):
    (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. 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)
    3. 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)
    4. Functional proteomic analysis of human nucleolus. (PubMed id 12429849)1, 2 Scherl A.... Diaz J.-J. (2002)
    5. 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)
    6. Genetic investigation of the TSPYL1 gene in sudden infant death syndrome. (PubMed id 16418600)1, 9 Hering R....Riess O. (2006)
    7. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
    8. Should TSPYL1 mutation screening be included in routin e diagnostics of male idiopathic infertility? (PubMed id 22137496)1 Javaher P....Schubert S. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TSPYL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TSPYL1 gene:
    Search GeneIP for patents involving TSPYL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for TSPYL1   OriGene shRNA RFP for TSPYL1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TSPYL1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TSPYL1  
     OriGene Protein Over-expression Lysate for TSPYL1   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for TSPYL1   OriGene 3'-UTR Clone for TSPYL1  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TSPYL1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TSPYL1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for TSPYL1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for TSPYL1   OriGene Custom Protein Services for TSPYL1  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TSPYL1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TSPYL1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TSPYL1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TSPYL1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TSPYL1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TSPYL1
     GenScript Custom Purified and Recombinant Proteins Services for TSPYL1 GenScript cDNA clones with any tag delivered in your preferred vector for TSPYL1
     GenScript Custom Assay Services for TSPYL1 GenScript Custom Superior Antibodies Services for TSPYL1
     GenScript Custom overexpressing Cell Line Services for TSPYL1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in TSPYL1 promoter
     Search Chromatin IP Primers for TSPYL1
     RT2 qPCR Primer Assay in human, mouse, rat TSPYL1
     Search GNC Networks for TSPYL1
     SABiosciences Custom PCR Arrays for TSPYL1
     Search Tocris compounds for TSPYL1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     TSPYL1 antibodies
     TSPYL1 proteins
     TSPYL1 lysates
     Antibodies for TSPYL1
     See all of Abcam's Antibodies, Kits and Proteins for TSPYL1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     TSPYL1 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for TSPYL1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSPYL1
     SwitchGear 3'UTR luciferase reporter plasmids for TSPYL1
     SwitchGear Promoter luciferase reporter plasmids for TSPYL1
     ThermoFisher Antibody for TSPYL1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TSPYL1
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      TSPYL1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4