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Q9H0U9

- TSYL1_HUMAN

UniProt

Q9H0U9 - TSYL1_HUMAN

Protein

Testis-specific Y-encoded-like protein 1

Gene

TSPYL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 111 (01 Oct 2014)
      Sequence version 3 (14 Oct 2008)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. enzyme binding Source: UniProt

    GO - Biological processi

    1. nucleosome assembly Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Testis-specific Y-encoded-like protein 1
    Short name:
    TSPY-like protein 1
    Gene namesi
    Name:TSPYL1
    Synonyms:TSPYL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:12382. TSPYL1.

    Subcellular locationi

    Nucleusnucleolus 1 Publication

    GO - Cellular componenti

    1. nucleolus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi608800. phenotype.
    Orphaneti168593. Sudden infant death - dysgenesis of the testes.
    PharmGKBiPA37050.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 437437Testis-specific Y-encoded-like protein 1PRO_0000185670Add
    BLAST

    Proteomic databases

    MaxQBiQ9H0U9.
    PaxDbiQ9H0U9.
    PRIDEiQ9H0U9.

    2D gel databases

    SWISS-2DPAGEQ9H0U9.

    PTM databases

    PhosphoSiteiQ9H0U9.

    Expressioni

    Tissue specificityi

    Expressed in testis, ovary, liver, spleen, brain, kidney, prostate, lung, liver, and heart.1 Publication

    Gene expression databases

    BgeeiQ9H0U9.
    CleanExiHS_TSPYL1.
    GenevestigatoriQ9H0U9.

    Organism-specific databases

    HPAiHPA031971.

    Interactioni

    Protein-protein interaction databases

    BioGridi113110. 8 interactions.
    IntActiQ9H0U9. 3 interactions.
    MINTiMINT-4719042.
    STRINGi9606.ENSP00000357597.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H0U9.
    SMRiQ9H0U9. Positions 229-410.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiNOG264197.
    HOVERGENiHBG014779.
    InParanoidiQ9H0U9.
    KOiK11284.
    OMAiRRNQDVV.
    OrthoDBiEOG76MK8K.
    PhylomeDBiQ9H0U9.
    TreeFamiTF313386.

    Family and domain databases

    InterProiIPR002164. NAP_family.
    [Graphical view]
    PANTHERiPTHR11875. PTHR11875. 1 hit.
    PfamiPF00956. NAP. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9H0U9-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSGLDGVKRT TPLQTHSIII SDQVPSDQDA HQYLRLRDQS EATQVMAEPG    50
    EGGSETVALP PPPPSEEGGV PQDAAGRGGT PQIRVVGGRG HVAIKAGQEE 100
    GQPPAEGLAA ASVVMAADRS LKKGVQGGEK ALEICGAQRS ASELTAGAEA 150
    EAEEVKTGKC ATVSAAVAER ESAEVVKEGL AEKEVMEEQM EVEEQPPEGE 200
    EIEVAEEDRL EEEAREEEGP WPLHEALRMD PLEAIQLELD TVNAQADRAF 250
    QQLEHKFGRM RRHYLERRNY IIQNIPGFWM TAFRNHPQLS AMIRGQDAEM 300
    LRYITNLEVK ELRHPRTGCK FKFFFRRNPY FRNKLIVKEY EVRSSGRVVS 350
    LSTPIIWRRG HEPQSFIRRN QDLICSFFTW FSDHSLPESD KIAEIIKEDL 400
    WPNPLQYYLL REGVRRARRR PLREPVEIPR PFGFQSG 437
    Length:437
    Mass (Da):49,192
    Last modified:October 14, 2008 - v3
    Checksum:iD651A6FAA7CF811F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti174 – 1741E → EV in CAB66564. (PubMed:11230166)Curated
    Sequence conflicti174 – 1741E → EV in AAH48969. (PubMed:15489334)Curated
    Sequence conflicti420 – 4201R → C in AAC62384. (PubMed:9730615)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti62 – 621P → S.1 Publication
    Corresponds to variant rs3828743 [ dbSNP | Ensembl ].
    VAR_016229
    Natural varianti74 – 741A → P.1 Publication
    Corresponds to variant rs3749895 [ dbSNP | Ensembl ].
    VAR_016230
    Natural varianti181 – 1811A → T.
    Corresponds to variant rs3749894 [ dbSNP | Ensembl ].
    VAR_046722

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136629 mRNA. Translation: CAB66564.1.
    AL050331 Genomic DNA. Translation: CAB55883.1.
    CH471051 Genomic DNA. Translation: EAW48232.1.
    BC048969 mRNA. Translation: AAH48969.1.
    AF042181 mRNA. Translation: AAC62384.1.
    CCDSiCCDS34518.1.
    RefSeqiNP_003300.1. NM_003309.3.
    UniGeneiHs.458358.
    Hs.744978.

    Genome annotation databases

    EnsembliENST00000368608; ENSP00000357597; ENSG00000189241.
    GeneIDi7259.
    KEGGihsa:7259.
    UCSCiuc003pwp.4. human.

    Polymorphism databases

    DMDMi209572711.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136629 mRNA. Translation: CAB66564.1 .
    AL050331 Genomic DNA. Translation: CAB55883.1 .
    CH471051 Genomic DNA. Translation: EAW48232.1 .
    BC048969 mRNA. Translation: AAH48969.1 .
    AF042181 mRNA. Translation: AAC62384.1 .
    CCDSi CCDS34518.1.
    RefSeqi NP_003300.1. NM_003309.3.
    UniGenei Hs.458358.
    Hs.744978.

    3D structure databases

    ProteinModelPortali Q9H0U9.
    SMRi Q9H0U9. Positions 229-410.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113110. 8 interactions.
    IntActi Q9H0U9. 3 interactions.
    MINTi MINT-4719042.
    STRINGi 9606.ENSP00000357597.

    PTM databases

    PhosphoSitei Q9H0U9.

    Polymorphism databases

    DMDMi 209572711.

    2D gel databases

    SWISS-2DPAGE Q9H0U9.

    Proteomic databases

    MaxQBi Q9H0U9.
    PaxDbi Q9H0U9.
    PRIDEi Q9H0U9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000368608 ; ENSP00000357597 ; ENSG00000189241 .
    GeneIDi 7259.
    KEGGi hsa:7259.
    UCSCi uc003pwp.4. human.

    Organism-specific databases

    CTDi 7259.
    GeneCardsi GC06M116601.
    HGNCi HGNC:12382. TSPYL1.
    HPAi HPA031971.
    MIMi 604714. gene.
    608800. phenotype.
    neXtProti NX_Q9H0U9.
    Orphaneti 168593. Sudden infant death - dysgenesis of the testes.
    PharmGKBi PA37050.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG264197.
    HOVERGENi HBG014779.
    InParanoidi Q9H0U9.
    KOi K11284.
    OMAi RRNQDVV.
    OrthoDBi EOG76MK8K.
    PhylomeDBi Q9H0U9.
    TreeFami TF313386.

    Miscellaneous databases

    GeneWikii TSPYL1.
    GenomeRNAii 7259.
    NextBioi 28381.
    PROi Q9H0U9.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9H0U9.
    CleanExi HS_TSPYL1.
    Genevestigatori Q9H0U9.

    Family and domain databases

    InterProi IPR002164. NAP_family.
    [Graphical view ]
    PANTHERi PTHR11875. PTHR11875. 1 hit.
    Pfami PF00956. NAP. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS SER-62 AND PRO-74.
      Tissue: Fetal brain.
    2. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Testis.
    5. "Murine and human TSPYL genes: novel members of the TSPY-SET-NAP1L1 family."
      Vogel T., Dittrich O., Mehraein Y., Dechend F., Schnieders F., Schmidtke J.
      Cytogenet. Cell Genet. 81:265-270(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 365-437, TISSUE SPECIFICITY.
    6. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. "Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function."
      Puffenberger E.G., Hu-Lince D., Parod J.M., Craig D.W., Dobrin S.E., Conway A.R., Donarum E.A., Strauss K.A., Dunckley T., Cardenas J.F., Melmed K.R., Wright C.A., Liang W., Stafford P., Flynn C.R., Morton D.H., Stephan D.A.
      Proc. Natl. Acad. Sci. U.S.A. 101:11689-11694(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SIDDT.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiTSYL1_HUMAN
    AccessioniPrimary (citable) accession number: Q9H0U9
    Secondary accession number(s): O75885, Q5TFE6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 15, 2003
    Last sequence update: October 14, 2008
    Last modified: October 1, 2014
    This is version 111 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3